1. family and parenting
2. motherhood
3. pregnancy

INFORMED CONSENT OF PREGNANCY
The obstetricians and certified nurse midwives of Women's Health Specialists wish to welcome
you to our practice. We consider this to be a very enjoyable specialty because our patients are
generally healthy women eagerly awaiting the arrival of their babies. We believe that good
communication and an environment of mutual respect and cooperation help ensure a healthy mother
and baby.
As you may be aware, there has been a rise in malpractice claims against doctors, some valid
and some frivolous. This increase in lawsuits has resulted in a huge increase in malpractice insurance
rates for all obstetricians. Because of often impossibly high malpractice insurance rates, some
obstetricians have stopped delivering babies. The climate of medical malpractice today demands that
the patient be as informed as possible of potential (but unlikely) problems that may occur from
pregnancy. Pregnancy is a normal process for women. But there is always the possibility of
complications. These infrequent problems may happen with or without warning, often despite our best
efforts to prevent them. We want to educate you and your partner about these possibilities so that you
may be more prepared in the very unlikely event that you develop such a problem ..
The patient's lifestyle is an important part of her health, pregnant or not. Obesity,smoking,
poor eating habits, drug use, and not getting enough exercise may cause complications in both the
mother and her developing child. The patient is responsible for her lifestyle choices.
About 3% to 4% of all babies are born with birth defects. Smoking, medications, street drugs, over the
counter medicines, alcohol, viruses and fevers, complications of other medical conditions such as
diabetes, and problems passed on in families are some of the causes of these. Often there is no
identifiable reason. Stillbirth is rare, but when it does happen there is often no obvious cause.
During the first few months ofpregnancy, nausea and vomiting are a common problem.
Occasionally, it becomes severe enough for a hospital stay. Miscarriage occurs in about 20% of
pregnancies. Bleeding mayor may not be a sign of this. Pregnancy loss after·the first trimester is
more rare and may occur for reasons that are unknown and unavoidable. The loss of an early
pregnancy may require surgery, such as aD & C to prevent infection or blood loss.
Medical problems such as diabetes, heart disease, high blood pressure and herpes require
special attention in pregnancy. Pregnancy can make some of these problems worse. It is important for
the patient who has a medical condition to work with her doctors to become as healthy as possible
before becoming pregnant. This may include exercising, losing weight andlor changing medications.
Infections such as bladder or kidney can be common in pregnancy. Less common are infections within
the uterus during pregnancy. Any infection that can happen before pregnancy can happen during
pregnancy.
Problems later in pregnancy can include heavy bleeding due to the problems with the placement
of the placenta(afterbirth) or an early separation of the placenta from the inside of the uterus. Other
problems that can only happen in pregnancy include problems with the baby's growth, babies born too
early, problems with interactions between the baby's blood and the mother's. Pregnant women are
prone to varicose veins, phlebitis and blood clots. Toxemia of pregnancy is a condition resulting in
high blood pressure. Toxemia may be mild or severe. When it is severe there can be problems with
the functions of the mother's kidneys, liver, or the ability of the blood to clot. Any of these
complications may result in hospitalization and/or early delivery. These can be, but is rarely, life
threatening.
Cesarean section is major surgery that can be life saving when necessary. Cesarean section
may be needed for many reasons: the baby may not do well in labor, the baby may not be head first,
the baby may not be fitting through the birth canal properly, and many of the problems mentioned
earlier can result in cesarean section. Cesarean section can be associated with infectious complications
and/or injury to surrounding organs that may require further surgery or treatment. Occasionally
forceps or a vacuum cup is needed to help deliver the baby's head. When indicated they can be life
saving for the baby. Properly used they usually cause no problems but can Jeave a mark on the baby
that will go away. It is very rare, but there can be injuries to the baby's head, even with proper use.
These instruments are not used unless the benefits outweigh any risk. Any women can have tears of
the vagina, rectum or uterus in the childbirth process. Sometimes women develop a large bruise ofthe
pelvic area that can need surgery to heal. The afterbirth usually comes out in one piece; however,
small fragments can remain inside and cause bleeding and infection. Very rarely, there is such heavy
bleeding after delivery, either vaginal or by cesarean section, that a blood transfusion or hysterectomy
may be needed to save a life. Usually, stitches of the vagina and bottom heal quickly. Occasionally
there may be an infection or poor healing in that area that requires treatment.
Anesthesia also has risks. Women may be allergic to or have reactions to the medications used.
General anesthesia can result in aspiration pneumonia. Patients receiving medicines of any kind can
have a reaction, allergic or otherwise. Blood transfusions (given only when absolutely needed) can
result in bad reactions or infections transmitted by blood.
We are proud to offer in our practice both the services of obstetricians and highly trained and
skilled certified nurse-midwives. This team approach to health care gives our patients high quality
care. When a midwife attends a birth, physician support is readily available. Our midwives have over
50 years experience among them bringing healthy babies into the world. Patients may request to have
a physician only for the delivery. Very rarely, deli very may go so fast that the doctor or midwife
cannot get to the hospital in time. The most qualified person present will attend the delivery should
that happen.
To attempt to list every single emergency or complication is impossible. This "informed
consent" is not intended to alarm the patient, only to remind the patient that life and pregnancy are not
without risk. We ask that you and your partner acknowledge the receipt of this information with your
signature and it becomes part of your record. We shall be happy to answer any questions you might
have. You may request a copy of this document for your personal records.
Patient signature: _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ Date: _ _ _ _ _ _ _ _ _ __
Partner: _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ Witness: _ _ _ _ _ _ _ _ _ __
_ _ _ I give permission to leave test results on my answering machine.
_ _ _ I give permission to discuss test results with my partrier or parent or _ _ _ _ _ _ _ __
CHART#- - - - - - - -
Women's Health Specialists
Notice to Obstetrical Patient
I have been furnished information by Women's Health Specialists prepared by the
Florida Birth Related Neurology Injury Compensation Assoication, and have been
advised that all the physicians of Women's Health Specialists are participating physicians
in that program, wherein certain limited compensation is available in the event certain
neurological injury may occur during labor, delivery or resuscitation. For specifics on the
program, I understand I can contact the Florida Birth Related Neurological Injury
Compensation Association (NICA), 1435 East Piedmont Drive, Suite 101, Tallahassee,
Florida 32312, (904) 488-8191. I further acknowledge that I have received a copy ofthe
brochure prepared by NICA.
Dated this _ _ _ _ _ day of _ _ _ _ _ _ _ _ 2013 Signature of Patient ____________________ Name of Patient ------------------
Social Security Number ___________________ Attest:
Nurse or Physician ______________________
Date -----------CHART #----------3/97
c % r t h of, b,by ;, 'n exc;t;ng 'nd happy Hme.
You have every reason to expect that the birth will be
normal and that both mother and child will go home
healthy and happy.
malities. Only injuries to
infants delivered by par­
ticipating physicians,.as
defined in s. 766.302(7){
Florida Statutes, are rn\JI:'r<'n
Unfortunately, despite the skill and dedication of doctors
and hospitals, complications during birth sometimes
Compensation
occur. Perhaps the worst complication is one which
results in damage to the newborn's nervous system ­
called a "neurological injury". Such an injury may be
catastrophic, physically, financially and emotionally.
Compensation may be provided for the following:
• Actual expenses for necessary and reasonable care,
services, drugs, equipment, facilities and travel,
excluding expenses that can be compensated by state
In an effort to deal with this serious problem, the Florida
or federal government or by private insurers.
• in addition, an award, not to exceed $100,000 to the
infant's parents or guardians.
Legislature, in 1988, passed a law which created a Plan
that offers an alternative to lengthy malpractice litigation
processes brought about when a child suffers a qualifying
neurological injury at birth. The law created the
Florida Birth-Related Neurological injury Compensation
Association (NICA).
Excl usive Remedy
The law provides that awards under the Plan are exclusive.
This means that if an injury is covered by the Plan, the
child and its family are not entitled to compensation
through malpractice lawsuits.
Criteria and Coverage
Birth-related neurological injuries have been defined as
an injury to the spinal cord or brain of a live-born infant
weighing at least 2500 grams at birth. In the case of
multiple gestation, the live birth weight is 2000 grams for
each infant. The injury must have been caused by oxygen
deprivation or mechanical injury, which occurred in the
course of labor, delivery or resuscitation in the immediate
post delivery period in a hospital. Only hospital births
are covered.
The injury must have rendered the infant permanently
and substantially mentally and physically impaired. The
legislation does not apply to genetic or congenital abnor­
• Death benefit in the amount of $10,000.
• Reasonable expenses for filing the claim,including
attorney's fees.
NICA is one of only two (2) such programs in the nation,
and is devoted to managing a fund that provides com­
pensation to parents whose child may suffer a qualifying
birth-related neurological injury. The Plan takes the "No­
Fault" approach for all parties involved. This means that
no costly litigation is required and the parents of a child
qualifying under the law who file a claim with the
Division of Administrative Hearings may have all actual
expenses for medical and hospital care paid by the Plan.
You are eligible for this protection if your doctor is a
participating physician in the NICA Plan. if your doctor is
a participating physician, that means that your doctor has
purchased this benefit for you in the event that your child
should suffer a birth-related neurological injury, which
qualifies under the law. if your health care provider has
provided you with a copy of this informational form, your
health care provider is placing you on ~otice that one or
more physician(s) at your health care provider participates
in the NICA Plan.
Women's.
HEALTH
SPECIALISTS
JeuneNti Aesthetic
Beauty & Laser Center
To the Physicians and Staff of Women's Health Specialists:
Patient Chart #:
-----------------
RE: Pennission to share Private Health Infonnatian and leave results
1) I hereby permit WHS to leave
[ ] Normal
[ 1Abnormal
test results on:
Home Phone
------------------
Cell Phone.___________
Other____________________
2) I do not permit WHS to leave test results messages to me. [ ]
3) I hereby permit my Private Health Information to be shared with the following individuals:
Person
Relationship
Phone #
Person
Relationship
Phone #
Person
Re lationsh ip
Phone #
Person
Relationship
Phone #
Person
Relationship
Phone #
These pennissions will be in effect until I notify Women's Health Specialists in writing a revocation of the permission(s).
Patient Signature / Date
Printed N arne
Witness Signature / Date'
Printed N arne
CHART#
GENETICS APPENDIX
GENETICS
CYSTIC FIBROSIS SCREENING QUESTIONNAIRE
This form should be filled out when routine cystic fibrosis DNA screening for 31 common mutations is orderd (test
480533). The form should be completed by the ordering physician's office and must accompany the sample. Please
call 1-800-345-4363 with any questions.
Patient's name: _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ Patient's date of birth: _ _ _ _ _ _ _ _ _ __
Name of person completing form: _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ __
Physician's signature: _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ __
Indication for testing:
_ _ _ Routine carrier screening _ _ _ Screening for partner of a previously identified carrier _ _ _ Routine screening of fetus (either on CVS or amniotic fluid) _ _ _ Suspected diagnosis of fetus/ symptomatic individual _ _ _ Known diagnosis of symptomatic individual Patient history:
Is this patient/this patient's partner currently pregnant? _ _ _ Yes._ _ _No If so, what is current gestational age? _ __ Has anyone in the patient's family been diagnosed with cystic fibrosis or been identified as carrier for cystic
fibrosis mutation? _ _Yes _ _No
If this patient is suspected to have cystic fibrosis, what clinical symptoms/ultrasound findings are present?
Has the individual been sweat tested?
Patient ethnicity:
_ _Caucasian, Northern European
(poland, Germany, etc)
_ _ Caucasian, Southern European
(Italy, Greece, etc)
_ _ Hispanic (puerto Rican, Mexican, etc)
_ _ Asian American Indian _ _ Ashkenazi Jewish _ _ African American/Black _ _ Other _ _ _ __ (please indicate) _ _ Unknown Race/Ethnicity Note: This form should be photocopied as necessary and submitted (with specimens) to the laboratory.
WOMEN'S HEALTH SPECIA.LlSTS PRACI1CE GUIDELINES SCREENING FOR CARRIER STATUS CYSTIC FIBROSIS JANUARY 29, 2002 BACKGROUND
Cystic fibrosis is the most common autosomal recessive genetic disorder in Caucasians.
Table 1- Incidence RaciaJlEthnic Group
Incidence of CF
African American
1/3,300
1/8,000-9,000
1/15,000
Asian American
1132, I00
Caucasians
Hispanics
Carrier Risk 1/29 1/46 1/62 1/90 The gene that causes CF was isolated in 1989. There are more than 900 mutations of this gene that vary in
incidence depending on the population. The standard screening test recommended includes a pan-ethnic panel of
25 mutations.
Carrier Detection lGites
RaciaJlEtbnic Group
Detection Rate
Caucasian
Ashkenazi Jew
Hispanic
82% 93% 51% 45% African American
In 1997 an NIH Consensus Conference recommended that screening for CF should be expanded from those with family history to include couples planning a pregnancy, and to couples seeking prenatal care. Table 2-Risk of Offspring Having Cystic Fibrosis
RaciallEtbnic Group
BotbiNegative
No Test
Ashkenazi Jew
1/3,459,600
Caucasian
In8,400
Hispanic
113,300
1/107,880
1/3,720
1/116
113,300
1116,240
1/560
1/116
118,464
1119,320
11420
111&4
1144,100
African American
1/171,396
1116,900
Asian
1132,400
NegativelUntested
1153,820
No
PositivelNegative
11828
Data
PositivelUntested
1/260
1/360
Limitations of &reening;
Screening cannot detect all mutations. Risk estimates depend on correctly identified paternity. The estimate ofresiduaI risk applies only when fiunily history is negative. Knowledge of mutations cannot always be used to predict the severity of the disorder. Screening may detect couples at risk for a baby with CBA VD-an otherwise healthy male who is infertile. CONSENT FORM FOR CARRIER TESTING FOR CYSTIC FIBROSIS
Cystic Fibrosis (CF) is a genetic disorder that is passed on to a child from both of its parents. CF
is a lifelong illness. People with CF do not live as long as healthy people. Some who
are very ill will die in childhood. Others who have a milder form of the disease may live to be in
their forties and have careers and families. CF causes problems with digestion and breathing. All
people with CF require medical care which may become very expensive, especially without adequate
health insurance.
Both parents must carry the gene for CF. The risk of being a CF carrier depends on your
ethnicity. If you are of European Caucasian or Ashkenazi Jewish descent your risk is 1 in 29,
Hispanic American 1 in 46, African American 1 in 65, or Asian American 1 in 90.
There is a blood test for carrier status for CF. This tests for the most common 25
mutations of the gene. There are over 900 mutations. This means you could have a negative test
and still be a carrier. The test improves your odds~ it is not 100% accurate. Whether or not to
receive testing is your choice.
Possible reasons to be tested
If CF seems like a very serious problem to you or if you or your partner has someone in the
Family with CF or is a known carrier
If you would consider amniocentesis for diagnosis of CF in a fetus in order to consider the
possible termination of a pregnancy or to help prepare for the birth of a baby with CF
If you would find test results reassuring and/or the cost of testing is covered by your
insurance company
Possible reasons not to be tested
If CF does not seem like a serious disorder to you or your chance of carrier status is low
If you would never consider amniocentesis even if both you and your partner were found
to be carriers.
Because the test is not perfect and doesn't identify all carriers
Because the test is costly and not covered by your insurance company
Make sure you understand the following before signing this form. Please ask us if you need more
information.
1. I understand that the decision to be tested is mine alone.
2. I understand the test does not detect all CF carriers.
3. If I am a carrier then testing my baby's father will help me better understand my baby's
risk for CF.
4. If one parent is a carrier and the other is not, there is still a chance the baby may have CF
although it is a small chance.
5. If both parents are carriers, additional testing can be done to see if the baby has CF.
6. If the baby has inherited a changed CF gene from both parents, the only way to avoid the
birth of a baby is by terminating the pregnancy. I have read and understand the above information and: ____1 do not want CF carrier testing
____I do want CF carrier testing
Signed: _ _ _ _ _ _ _ _ _ _ _ DATE _ _ _ _ _ _ CHART#_ _ _ __
WHAT IS CYSTIC FIBROSIS?
Cystic fibrosis (CF) is one of the most common inherited
diseases. It is caused by the failure of a protein to maintain
the chloride (salt) balance in the body. CF causes the
body to produce thick, sticky mucus thac can cause
breathing problems and lung infections, digestive
problems (difficulty absorbing some types of foods),
and infertility. CF does not cause mental retardation or
birth defects.
The symptoms of CF may vary from person to
person. Some health problems caused by CF can be
treated, but the disease itself cannot be cured. Most
people with CF have a shortened life span; some
will not survive past early childhood, but others will
live into their 40s or longer. 1 The average length of
survival for people with CF is 37.4 years. 2
References
1. American College of Obste,ricians and GynecologiS[s. CYJlic Fibrosis
Cam" usring: The D<cision Is YOUN. Washington. DC: American College of
ObS[etricians and GynecologiS[s; 2001.
2. Cystic Fibrosis Foundapon. Pari.,,, Registry Annual Data Repon 2008.
Berhesd •• Md: CystiC Fibrosis Foundation; 2008.
3. Langefclder_Schwind E. Klou E, Sugarman E. Penmen B. ond the
NSGC Su!:'commirtee On Cystic Fibrosis Carrier Testing. Cystic Fibrosis
Pren:lrai screening in genetic counsding practice: Recommendadons of
the National Sociery of Genedc Counselors. Journal ofGmnic Coumding.
2005; 14(1):1-15.
4. Richards CS. Bradley LA. Amos J. et aI. Standards and guidelines
for CFTR mutations testing. Gtndi£s in M.Jicin•• 2002; 4(5): 379-391.
5. Warson MS. Cu([ing GC. Desnick RJ, et aI. Cystic Fibrosis
population carrier screening: 2004 revision of American College of
Medical Genetics mutation panel. G.,."rics in M.Jicin. 2004; 6(5):
387-391.
6. Based on internal Bayesian calculation on file
7. American College ofObS[etricians and Gynecologists. Update
on carrier screening for cystic fibrosis ACOG Committee Opinion
No. 325. ObsUtrics 6- Gyntcoiogy. 2005; 106: 1465-8.
CYSTIC
FmROSIS
What causes cystic fibrosis?
Cystic fibrosis is caused by changes to the CF
gene that a person inherits from his or her
parents. Genes are found in evety cell in the
body, and they carry the instructions for making
proteins that control how each cell works.
Genes can undergo abnormal changes (called
mutations) that may cause cells to stop working
the way they should, and this can lead to
health problems.
Normally, each person has 2 copies of every
gene; 1 copy is inherited from each parent.
A person must inherit 2 copies of a CF gene
mutation in order to be affected by CF. If a
person inherits just 1 CF gene mutation, he
or she is a CF carrier. A person who has no
family history of CF and no children with
CF can still be a CF carrier. A CF carrier
will nor have CF-related health problems
but may have children affected with the
disease if his or her partner is also a CF
carrier. When both parents are carriers of
CF, there is a 25% (1 in 4) chance with
each pregnancy that the child will have
cystic fibrosis. 3
Note: This material is provided for
general inf()rmation purposes only.
It is not intended as a substitute for
medical adViCe and/or consultation
with a physician or technical ~ert.
CarePATH
Your guide to better health
C
CarePATH
Your guide to better health
C
Who is at risk for cystic fibrosis?
Cystic fibrosis is found in all eth{lic groups but is most
COmmon ;unong whites (Caucasians).~ About 1 in 2500
Caucasians is affected by this disease. 3.4 The CF carrier
risk for several ethnic groups is shown in table 1. The
chance ofbcing a carrier is greater for those who have a
family history of CF. I
Table 1. Cystic Fibrosis Carrier Frequency'
Ethnic group
AshkenaziJewish
Carrier risk
1/25
Caucasian (non-Hispanic)
1/25
Hispanic American
African American
1/46
1/65
Asian American
1/90
What is a ~tic fibrosis carrier screening test? A cystic fibrosis carrier screening test can identifY
gene mutations that are linked to CF. The test may
be performed on a sample of blood, cells obtained
by swabbing the inside of the mouth (buccal swab),
or cells obtained from a developing baby.
There are many possible CF gene mutations.
Some are rare, and there may be some that have
not been discovered yet. Lab Corp's CF Profile is
a carrier test that looks for the 32 most common
mutations known to be linked to CF. A negative
test result means it is unlikely that a person is a
CF carrier, but there is still a small chance that
a rare mutation may be present.
Table 2. Cystic FibrClsis Carrier Risk Followin9 a Negative Test Result for 32 Mutations
Carrier detectiOil rate for
tlfe 32 Cf mu,.tj~ns
CF carrier risk
prior to testing'
Ashkenazi JeWish
97%'
1/25"
1/80Q1
Caucasian (non-Hispanic)
90%'
1/25
1I24()1
Hispanic American
73%'
1/46
1/237'
African American
69%'
1/65
1/207'
Asian American
55%' .
1/90':
111986
Ethnic Group
Cf carrier risk after a negative
result for 32 mutations.
"Applies only to those who do not have a f.unily history of cystic fibrosis.
Table 2 shows the CF carrier risk for people who have had a
negative CF carrier test result. The information in the table
applies only to people who do not have a family history of
CF. LabCorp also offers a Cystic Fibrosis Expanded Profile
that looks for additional CF mutations and may be useful for
screening people who have a family history of CF and other
special cases.
What does it mean if the screening
test is positive?
If the CF screening test indicates a person is a carrier, the
next step is to test his or her partner. Both partners must be
carriers of a CF gene mutation to have an affected child. If
the partner has a negative test result, the chance of having
a baby with CF is very low. 1 If the partner's test result is
positive, the couple has a 25% chance with each pregnancy
of haVing a child with Cf.3
What can a couple do if there is a risk of
having affected children?
There are several options for couples who are at risk of
having a child with CF. Many include personal choices that
are best discussed with a health care provider. A genetic
counselor is a type of health care provider who can help you
understand genetic disorders such as CF, genetic testing, and
the choices available to diagnose certain genetic disorders
during pregnancy. Two options that may be discussed with
a genetic counselor are chorionic villus sathpling (CVS), a
test done between the lOth aJl. d 13th weeks of pregnancy,
and :J.ffi.niocentesis, a teSt done between the 15th and 20th
weeks of pregnancy. Other options are available and can be
discussed with your health care provider.
'Why is CF testing recommended?
Cystic fibrosis is one of the most common
inherited diseases. The American College of
Obstetricians and Gynecologists (ACOG) and
the American College of Medical Genetics
(ACMG) have recommended that carrier
screening should be offered to all Caucasian
couples who are pregnant or considering
pregnancy, and carrier screening should be
made available to all patients. 7 CF testing is not
required; it is an option. The choice to have CF
carrier testing is a personal one that should be
discussed with a health care provider.
'Where can I find more information?
Cystic Fibrosis Foundation
Telephone 1-800-344-4823
Website http://www.cff.org
Genetic Alliance
Telephone 202-966-5557
Website http://www/geneticalliance.org
National Society of Genetic Counselors
Telephone 312-321-6834
Website http://www.nsgc.org
Women's
HEALTH
SPECIALISTS
3498 NW Federal Hiehway Jensen Beach. FL 34957 SCREENING FOR DOWN SYNDROME AND OPEN NEURAL TUBE DEFECTS
Ultrasound with nuchal translucency combined with maternal serum screening and AFP are tests that may help detect several
types of birth defects (Down syndrome. Trisomy 18,and open neural tube defects). There are also birth defects that these tests
will not find, For many types of birth defects there is no screening test.·
A screening test is a test performed when there are no symptoms or known risk factors present. A screening test can only
assess your risk of having a baby with certain birth defects. A diagnostic test can usually show whether your baby actually has
the defect. If your screening test shows a higher than average risk of having a baby with a certain defect. further tests may be
used for diagnosis. Most women with abnormal screening tests have normal babies. If a woman is already at an increased risk
of having a baby with one of these problems. she may be offered the diagnostic test first rather than having the screening test.
If the maternal screen or quad screen results are normal. your risk of having a baby with either an open neural tube defect or
Down syndrome is low. There is still a chance. however, that the risk of a defect in your baby was not detected by the screening
test(s). The quad screen alone will detect approximately 80% of babies with Down syndrome or Trisomy 18. The nuchal
translucency and maternal serum screening with AFP will detect approximately 97% of babies with these conditions.
It is your decision whether to not to have any testing. Some
wom~n
find having the test to be reassuring. Others would
rather not have the information. The results of these tests can help some women make decisions about their options.
•
I have had an opportunity to ask questions and have them answered _ _ _ _ _ _ _ _ _ __
•
consent ( ]
•
consent [
1
decline []
to have my blood drawn for the quad screen test.
•
consent [
1
decline [1
the nuchal translucency + matemal (sequential screen) serum screening test.
decline
[1 the nuchal translucency + HARMONY/PANORAMA + AFP screening test.
Signature,_ _ _ _ _ _ _ _ _ _ _ _ _ _ _ __
Print Name _ _ _ _ _ _ _ _ _ _ _ _ Patient 10#_ _ _ _ __
Wltness._ _ _ _ _ _ _ _ _ _ _ _ _ _ Date_ _ _ _ __
About Integrated Genetics
Integrated Genetics has been a leader In genetic testing and counseling services for over 25yeors, About Ariosa Diagnostics
Ariosa Diagnostics. Inc. Is
committed to providing safe. highly
. accurate and affordable prenatal
tests for maternal and fetal health.
This brochure is provided by Integrated Genetics and Ariosa Diagnostics. Inc, as an educational service for health core providers and their patients, For more Information on our genetic testing and counseling services. please visit our web sites: www.harmonytest.com www.mytestingoptlons.com www.integratedgenetlcs.com For billing information. please call
(800) 845-6167.
We are available between the hours of 8:00 a.m. to 5:00 p.m .• Monday through Friday, fi Integrated
DIAGNOSTICS
II GENETICS
LabCorp Specialty Tmlng Group
Ariosa. Harmony. ond Harmony Prenatal Test are trademarks at Ariosa Diagnostics. Inc. C:2013Ariasa Diagnostics.lnc.AlI righls rese!Ved. C:2013laboralory Corporalion ot America· Holding•. All rights reserved. rep-611>vS-0113 11108Ml113·3 LabCorp Client Services
800-345-4363 (GENE)
www.integratedgenetics.com
Harmony Prenatal Test Simple, safe and accurate for you
and your pregnancy.
The HarmonyTM Prenatal Test is a
non-invasive test that detects
common fetal trisomies in
pregnancies of 10 weeks or more,
based on directed analysis of
DNA in maternal blood.
What is a trisomy?
---~--------------~------~~-----
~----
~-~-~------
Humans have 23 pairs of chromosomes. which
are strands of DNA and proteins that carry genetic
information. A trisomy is a chromosomal condition
that occurs when there are three copies of a particular
chromosome instead of the expected two.
Trisomy 21 is due to an extra chromosome 21 and is the
most common trisomy at the time of birth. Trisomy 21.
also called Down Syndrome. is associated with mild to
moderate Intellectual disabilities and may also lead
to digestive disease and congenital heart defects.! It
is estimated that trisomy 21 is present in lout of every
700 newborns. 1
Trisomy 18 is due to an extra chromosome 18. Trisomy
18, also called Edwards Syndrome. is associated with
a high rate of miscarriage. Infants born with trisomy 18
often have congenital heart defects as well as various
other medical conditions. shortening their lifespan,
It is estimated that trisomy 18 Is present In approximately
lout of every 5.000 newborns. 2
www.integratedgenetics.com
Trisomy 13 is due to an extra chromosome 13. Trisomy
13. also called Patau Syndrome. is associated with a
high rate of miscarriage. Infants born with trisomy 13
usually have severe congenital heart defects and other
medical conditions. Survival beyond the first year is rare.
It is estimated that trisomy 13 is present in approximately
1 out of every 16.000 newborns,3
Harmony detects trisomies of chromosomes 21. 18
and 13 in the fetus, but does not rule out all fetal
abnormalities.
What will the Harmony Prenatal Test
teU me and my healthcare provider?
The Harmony Prenatal Test assesses the risk of three
fetal trisamies by measuring the relative amount of
chromosomes in maternal blood.
How is the Harmony Prenatal Test
different from other prenatal tests?
The Harmony Prenatal Test is based on the newest
advances in non-invasive prenatal tesling. It is a simple
and safe blood test that has been shown In Clinical
studies to detect the risk of fetal trisomies with high
accuracy,4
The Harmony Test has been shown to have detection
rates of up to 99"'{' and false pasitive rates as low as
0.1 % for trisomy 21. 18 and 13. Diagnostic tests such
as amniocentesis or chorionic villus sampling (CVS)
are accurate for detecting fetal trisomies. but they are
invasive and pose a slight risk for fetalloss. 5
Who can get the Harmony Prenatal Test? InfdrmedCon$ent/D$olin~f9tH~fmQnY:%
Prenatal Testing
. ,. ..... , ..
..
The Harmony Prenatal Test can be ordered by
healthcare professionals for women with pregnancies
of at least 10 weeks' gestational age. The test Is not
for use In multiple pregnancies (such as twins) or
egg-donor pregnancies.
Low Risk result
If the Harmony Prenatal Test results show a Low Risk.
the chance C1f having a baby with trisomy 21. trisomy
18. or trisomy 13 is low. As with any test. a low risk
result reduces. but does not eliminate. the chance
of having an affected pregnancy.
High Risk result
If the Harmony Prenatal Test results show a High Risk.
there is an increased chance of having a baby with
trisomy 21. trisomy 18. or trisomy 13. If your result is
High Risk. your healthcare provider may offer genetiC
counseling and/or diagnostic testing to determine if
your baby is affected with one of these conditions.
.
-
1.Jh~purpose oftheHarmqny~rfl~qtal.Te&tl$'t?·:..'
lde~tlfy. pr~n(:mGI@sthatlT\?y~~fl?QrtlQ~ed.·. riSK.
'.. ·.fo(tr1S0mY21.trISO~yl~.()~)!:I~0B'lY·1~..
·.;,j· ·ic: .•. .·. . .•. .·
2.NOt;all'Offectedf~tu$es~dn·bJ··~~~~tij~~~tiryi~:W/I1·;
'bernlssed byal1Yispret)nIJjgt~fsi,~t}!~iq,·;j'0 . i.", .
3.... some·womf)n·.wif.hncirrri§l;f~fy~gwlW.~9~;,i."';
obnormal screening results.
,.,~,'
'"i '., . . .
4·.• AO,norlT\al·
.
scr~n,bgrE¥sU'ti:rn~Yl6a,¢?te;t~e~~,.,
forfurtherfesting, SUch;as'(jltr6sQ~ngdnd1'6r.:eVS·
orarnnlb~~tesis.;t ". .. . . .•. "i, . . . '.~Z'ft..:'!·4.:i.~i:,{i,
5;'.. The.decjSion.toconsentto;o(torefQSEd~eobQVe testing is e,rltlreltrb\ne~;, ' ;':,"" .'l""~{f· 6.... No.test<s).\<AU'·~.··p$rfQrn1editi!?9r~pOQedC?hrny . . ,;z~
sample' other tnont~oseo~t~o~e9;pY Vy ~c:)clqr.:t,;
~ti~~e~~~:~;~h~IR~2~~3~!~t~~i;~~~~='r.,.··' sam~r~'by thelaboro~ry.~',.>
7.
.'. .•.•. •. . •. . ••.. •.; .' ,"
My d06tor mayrel~sernYp~egponc:ybu+$brli~.
orultrQ$ou)')d (mdorpnlo~t~lsreslJtts ~';,~SO~rlx;
GenetIC'lol:>aratorleS.L~C;!9be;usedf . . . . st9t1stlcal
anaIYSI~~Qfthelab~~Qt?"($'~orma . ",9if>i ;,'~\
e.' Esoterfx:~hetic.;LdbQrdt?rr$s,tl'c,
···A.sk.y().Ur",pr9Vjd.r,~., .....".' '.
'/Jihe
t~st resOI!~1)NWto'the'<:i9cto(n2tY;, ..•• ,.' ".cx[to
.' .hls/hero'· nt~n'~.ssit~~r.v'~~1;~ttlor~e~,~jt1e
,,,,,•. ~patfent
.... ~9Ygx;"#C~i
. ' .,,':"<~:-i'~'':.> :h~r; Tfl~inf()trPCJfjRh!ryf~;SbrOcbur~lsproyiae<i
'.;:\'~
./TOlrfQF~Ob'c;J~%ut,Jh.~;~~[rno&YfJre~qtci/. . ,i'f';;,'~":~·/i·.
•..Test..• TglkTOyOvr~eCfjthC(1r~proyl<ierfj~f"re
"'yOUdeG/~eJfth~[1;C1f'fl]dnyprel1otQ' Test
.Isappropriafefciryo·U.
s-~~
_;~~;-~{-\<:}~""C
>,;
Integrated Genetics (800) 848-4436
.
-
i;ff..;:." ,":0
,,~,:_~, ~;:':"~:. J(",-_~;_~,~:~~:
..
_
,::-;>~,~,-: --:}·;<i
"--/oi'(
.
.'\j'i<'
'>?' . .
'~ •
/am~'i~h~isk.Whara~~ifl~ij~1
Informed Consent/Decline for Harmony
Prenatal Testing
If
testing
Is oval/obi.? ...,' .,,',
'"
If 0 HOrrnonyprenatalTests~OINSiYOU ore High RisK. it
does not necess~rily r;neon fhmtl1~.pregn9!'lCWhds (Continued from other side)
'onaot fhesebirtn~~~ts. VOl;lrh~lih¢(]taprOVlder My signature below indicates that I have read. or had
read to me. the above Information and I understand
it. I have also read or had explained to me the
specific dlsease(s) or condltions(s) tested for, and
the specific test(s) I am hoving, including the test
descriptions, principles. and limitations. I have hod the
opportunity to discuss the purposes and possible risks
of this testing with my doctor or someone my doctor
has designated. I know that genetic counseling is
avaiiable to me before and after the testing. I have
all the information I want and all my questions have
been answered.
.'.,in~y.offer y<>ljonEiOff?£:lfOJIOWln~~(()~\.J~s; . .ChOrioiifovllli$(3mpUng (O~)"ls;:q;;~r?Oedyre
thottokes a smona~OqntoftISsl.lefrd/'!'ltl'lEr,
. ~~IOPing plocenta,l1;eilssue Is fhen'~Q.tJb'
olaporatory to testthe'~hromosomes~<:3VS1S
lyploolly ~rf?rll'\~d b6tWeenwl.ql'l~:h12weeks
of pregnan¢y.CVS is assQ<J1
'.. 0 small lis/(
ot mISC~~~?~.;
• Am[lIQQEtntesiilS 9
'.
.'.r
prQCe{.1U~·ffi6wtthdraws
a smoll omount offlu\ctthot surroYndsJhe.fetus.
The fluid Is then· santtofhf:llob9rafory'tQle~t
the. chromosomes.' An.amnlo~ntesISiSYSY9I1Y
performed arovndoroffer the;T6'thWeekof
I have decided that:
pregnanpY.Arl1niocentesls.,~assQblated with
D I want the Harmony Prenatal Test.
a smollriskof./lilscarrloge.,.·('
Horrnony PrenOtalTest does nC)t$C~f1"o?6peni'leurol
tubedefedts. Open neurQltc.Jbeaefects OCpufWI'l(!in ...'
fhebaby's neural tube cJC)f1s not close completetyC1~d
qnopening remCJins .ol<:)ngpqr:toft~;po~y'Ssplneor. . . .
~d. Open n
ftf/!$ aef9cts o¢Q(J(in'~f?out l.out . . ..
tJffivaryl ,500JI~QJrtHS, 6 ASecon~trJIT1~sf§r blood test: .
. called MSAPP'()fonulttpsound, Is ifiq~I~'f9detect
openneurol tube detects;
),. . .
[ ] I do not wont the Harmony Prenatal Test.
eutrI,
Patient Signature
Date
The HarmohyPrenatalTest hO$il)eanaavaloped andispartormed
as a latx>ratorytest servlceQyArlosoDlagnostics.
.
a CLIA..certlijEld cfinlcallabor\;ltOry,
Obtained by
'. '.. • '.' ..:i
,i:':'::·::-- .:,;<;.y
.' .' . . . . . '. ..,.,..,:.;,)!\'.•. .. ' . l,U.S. Notional Ub«l!YofMedIClne. Genefic$ t-tOnleRe~;j)own
;Rti.....IlC41.
'.
;;';!~~I~~J/Qnr.nkn;n!h.9:loQndifi~~~;Aqc:Sed· •••....
California. Georgia. and New York have statutes requiring laboratories
to send confidential results of certain genetic tests to state or federal
health agencies for monitoring the detection of birth defects. It is
a standard of care for physicians to obtain informed consent for
genetic festing. This model consent form is designed to address the
requirements of New York State Civil Rights Low Section 79-1 and
Massachusetts General Law Chapter 111. Section 70G, Integrated
Genetics requires that ali reproductive genetic testing sent to any
of our laboratories be accompanied by the signed attestation on
the front of this Test Requisllion Form, Relevant patient educational
materials are also available through Integrated Genetics,
This model informed consent form is provided by Integrated Genetics
as a courtesy to physicians and their patients,
.2. U.S,Noff9l'lo!Ubrory c;>f Medlclne.~efl9$ HomeReferenqtl.Trf~ll'tVj8.· htfp;/lgIJr.nfm.nih.gc;>VI condlUonJlrlSOl'f1',"l8.Accessed July j~:z012, 3;. U,$, NotIonal Ubrary of Medlclne.·GeneH~ Home ReferenQ!t.TrlSQIl'tV 13; htfp:llghr,n1m,nih,govIcondltlon/irlsornv:.l3. Accessed .July12. 2012: 4. ACOG ProQHe& Uenn 7.7.Screenlngfortetqlpl'lrQ{1'\OspmQiObnormolll!e$.
OQst.,GyneopI; (2007) 109;211.",227,> . ..i.....
.
•
.•.•....••••....
Norton,M•• BrCIr•. H" \'.9Iss. J,. I(arlml.A.. ,taliNPrl-tnvasJveChrorriosOmiJl
Evol~Hon (NICE) Study: Resul~ otaMUltIqenter. Pro$pectMi.~ohort
study for Detection of FetolTtlsamv21oncfTrlsomv 18. AmJ Obstel'·
'!e ~Yrn!CoI, (2012),doJ;lO,lQ16/J.OJog,2012.o:>.~1~;?!!(' ....•..
"6;' O.S. Food and DnxJ A!imlniilli'Qtion (FDA). htfp;t~.'<ti.goy/Drugs/ 5,
! .. .
Integrated Genetics is a business unit of Esoterix Genetic Laboratories.
LtC. a wholly-owned subsidiary of Laboratory Corporation of America"
Holdings,
. OrugSafety/PostJTl(iik'lJtbr9gS9felylntormaH~~ISQOdPrOVldersl ,prugSgfetylntorrria1lOnforfleQthCareProfe$S100aIsl~1ll1~9,hlrrl.
Acl;:essed JlJly 18i ,[1012..
:
WWw.mytastingoptions.com
'..
.
II
WHAT IS MATERNAL
SERUM SCREENING?
Maternal serum screening is a simple blood test
offered during pregnancy to identifY women who
are at increased risk of having babies with Down
syndrome, trisomy 18, or an open neural tube defect
such as open spina binda.
What is AFP Tetra?
References
1. Ccncers for Disease C..orurol and Pr(!vC!nrion. Binh dcf4:c(s: Fr~u(!nrly
.slced quesrions. Available at: htrp:llwww.cdc.gov/ncbddd/bd/f.oql.h,m.
Accessed Aprtl 5, 20 I O.
2. Am<rican College of ObS[erricians and GynecologiSlS. Screening
for f«al chromosomal abnormali'ies. ACOG Practice Bull«in No. 77.
Ob,,.,';,, and Gyn,cology. 2007;109:217-227.
3. US N"ional Library of Medicine. Trisomy 18. [Genedes Home Reference Web sire]. January 2009. Available at: hup:llghr.n1m.nih.govl condilion:<risomyIB. Accessed April 5, 1010. 4. Palomaki GE, Neveux LM. Knigh, GJ. Haddow JE. M..ernal serum-imegrared screening for trisomy 18 using bmh flrs<- and second­
crimester markers. l'raIataJ Di4['IO';'. 2003;23:243-247. 5. Commi[(e. on Educational Bullerins of [he American College .,f Obsretrid.ns and Gynecologists. Marernal serum scrcening. ACOG Educational Bull"in. 1996;228: 1-9. G.UftO
~I)
AFP
TETRA
AFP Tetra is a maternal serum screening test
that is offered berween the 15th and 21st weeks
(second trimester) of pregnancy. It measures the
levels of 4 proteins in the mother's blood: AFP
(alpha-fetoprotein), hCG (human chorionic
gonadotropin), uE3 (unconjugated estriol), and
dimeric inhibin A (DIA). Results of the blood
test are combined with clinical information
about the mother, such as her age and weight,
to determine the developing baby's risk of
having Down syndrome, trisomy 18, or an
open neural tube defecr.
What are Down syndrome, trisomy
18, and open neural tube defects?
Down syndrome and trisomy 18 are
conditions caused by chromosomal
abnormalities. Chromosomes are present
in every cell of the body and contain
genetic information that helps determine
how we look, how our bodies grow and
develop, and our health. A developing
baby normally receives 23 chromosomes
from each parem for a rotal of23 pairs
of chromosomes in each cell. The
chromosome pairs are numbered 1
through 23. Sometimes a baby can
be born with roo many or toO few
chromosomes. Errors in the number
of chromosomes may cause a variety
of birth defects, ranging from mild
ro severe.
Note: This material is provided for
general informarion purposes only. It is
lIor intended as a substirure for medical
advice and/or consulrarion wim a
physician or technical expert.
CareP.ATH
Your guide to better health
e
CarePATH
Your guide to bener health
8
In Down syndrome, also called nisomy 21, a baby has
an extra copy of the number 21 chromosome. All babies
with Down syndrome have some degree of mental
retardadon and often have physical abnormalities such as
heart defectS. About 1 in 800 babies is born with Down
syndrome.' AFP Tetra is expected (0 detect 75% (0 80%
of pregnancies affected with Down syndrome in the early
second trimester with a false-positive rate of 5% (meaning
5% of unaffected pregnancies will have positive screening
test resulrs)? Women who have a positive screening test
result will be offered further testing (0 find out if their
babies have Down syndrome.
Trisomy 18 is also known as Edward syndrome. Babies
with this condition have an extra copy of the number
18 chromosome. Trisomy 18 causes severe mental
retardation and physical abnormalities. Most babies
with trisomy 18 do not survive the first year oflik.
Trisomy 18 is rare, occurring in 1 in
~
every 5000 births.' AFP Tetra
is expected (0 detect 73%
of pregnancies with
trisomy 18.4
Open neural tube
defectS, such as
spina bifida and
anencephaly, occur
when a baby's spinal cord
does not close completely
during development. About 1
in 1000 babies is born with an open neural
rube defecL I The effects of open spina bifida
range from bladder control problems ro
paralysis to a buildup of fl uid inside the
skull (hydrocephalus). Anencephaly results
in underdevelopment in parts of the brain.
Babies born with anencephaly usually
survive only hours or days after birth. AFP
Tetra is expected ro detea about 80% of
cases of open spina bifida and 90% of
cases of anencephaly.5
What does it mean if my AFP Tetra screening
is negative?
A negative test result indicates the likelihood that your
baby has Down syndrome is reduced. However, the
AFP Tetra screening test cannot completely rule out the
possibility that your baby could have Down syndrome.
The measuremenrs used in the AFP Tetra test can also
be used ro identifY pregnancies with a relatively low risk
of trisomy 18 and open spina bifida, but they cannot
completely rule our the chances of having a baby with
either of those conditions. Additionally, screening using the
AFP Tetra test does not detect other types of chromosomal
abnormalities or birth defeCts.
Does a positive AFP Tetra result mean my
baby has a birth defect?
No. Screening tests cannot diagnose problems with your
baby or pregnancy. A positive test result can only tell you
there is an increased risk that your baby may have Down
syndrome, trisomy 18, or an open neural rube defecL
Typically, a woman who has a positive screening result is
offered additional tests ro find our if her baby has one of
these conditions.
If my test result is positive, what happens next?
Follow-up options are discussed between you and your
docror. If your screening test is positive, your doctor may
recommend one or more of the follOWing:
• Genetic counseling. A genetic counselor can help you
understand your test results and explain your options
for finding OUt if your baby has Down syndrome,
trisomy 18, or an open neural rube defect. A genetic
counseling session will include an in-depth discussion
about your personal and family medical hisrories as
well as your pregnancy history. Genetic counseling
may be provided by a certified genetic counselor, a
perinarologist (high-risk pregnancy doctor), or your
Own obstetrician.
• Ultrasound. This procedure uses
high-frequency sound waves and
a computer to create images of
a developing baby. In the second
trimester, a detailed ultrasound
examination of a baby may be able
to identifY some birth defecrs such as
open spina bifida. Babies with Down
syndrome and trisomy 18 may have
certain features that can be seen on
ultrasound, bur, in general, neither
can be diagnosed by ultrasound alone.
Ultrasound is also used to measure
the baby and determine how far along
you are in your pregnancy (your baby's
gestational age). The levels of the proteins
measured in the AFP Tetra test vary with
each week of pregnancy, so knowing the
exact gestational age is an essential part of
the test. If ultrasound dating changes your
baby's gestational age by 10 days or more,
your physician may ask the lab to recalculate
your test results. Ultrasound may reveal the presence of twins, which can also affect your AFP Tetra result. • Amniocentesis. This procedure is usually
performed after the 15th week of pregnancy.
Ultrasound is used to guide a thin needle
through the abdomen into the uterus, and a
small amount of fluid (amniotic fluid) from
around the baby is removed. The ceIls in the
fluid are examined in the laboratory to find
out if a chromosome abnormality like Down
syndrome or trisomy 18 is present. Amniocentesis
can diagnose most chromosomal abnormalities but
cannot diagnose or identifY all birth defecrs. A1pha­
fetoprorein (AFP) is also measured in the amniotic
fluid, and if open spina bifida is suspected a spinal
protein called acetylcholinesterase (AChE) is measured
as well. This combination of tests can diagnose most,
but not all, babies with open spina bifida. 5
WfL,\T
Is
SEQUENTIAL SCREENING?
Sequential Screening is a two-stage screening procedure
offered during pregnancy to identifY women who are at
increased risk of having a baby wim Down syndrome. I It
also permits screening for open neural tube defects, such as
open spina bifida, and me identification of pregnancies at
high risk for trisomy 18.
The first stage of Sequential Screening is offered between
me 10th and 13th weeks of pregnancy and requires
a blood sample and an ultrasound examination. The
blood sample is used to measure two proteins that
are found in a pregnant woman's blood: pregnancy­
associated plasma protein A (PAPP-A) and human
chorionic gonadotropin (hCG). An ultrasound exam
of the baby is performed [Q measure the nuchal
translucency (NT) .• Nuchal translucency refers [Q
a collection of fluid in me back of me baby's neck.
Babies with Down syndrome and trisomy 18 tend to
have NT measurements that are larger than those of
babies without these conditions.
Results of the blood and NT measurements are
combined, and a risk for Down syndrome and
trisomy 18 is determined. If a baby is found to
be at very high risk for either Down syndrome
or trisomy 18, then diagnostic testing is offered.
Most women (over 99%) will not be in this
very high-risk group, and they proceed with the
second stage of Sequential Screening.
The second stage of Sequential Screening is
offered between the 15th and 21st weeks of
pregnancy and requires a blood sample co
measure four substances found in a pregnant
woman's blood: alpha-fecoprotein (AFP),
hCG, unconjugaced estriol (uE3), and
dimeric inhibin A (DIA).
The NT measurement and the
measurements from both blood samples
are then combined with information about
you, such as your age and weight, to
determine your baby's final risk for having
Down syndrome. The AFP measurement
is used to screen for open neural tube
defects, and the combination of the
different markers may identify babies at
increased risk for trisomy 18.
is removed from the placenta by inserting a needle
through the abdomen or by passing a catherer (thin
rube) through the cervix, both under ultrasound
guidance. The cells in the tissue are analyzed co
determine whether the developing baby has a
chromosomal abnormality such as Down syndrome
or trisomy 18. CVS identifies most chromosomal
abnormalities but cannot diagnose or identify all
birth defects.
SEQUENTIAL
SCREENING
WHAT
You
SHOULD
KNow
References
L Wald NJ. Rudnick> AR. Bestwick JP. Sequential and concingem
prena,aI screening for Down syndrome. Prmtztlll Didgnosis. 2006 Sep;
26(9):769-777.
2. Palomaki GE. S..inorr K. Knight GJ. Haddow JE. Comparing
three screC!'ning srrarcgic5 for combining firsr-and second-trimesrer
Down Syndrome markets. Obrmricr and Gyn",ology. 2006
Feb;107(2);367-37S.
3. American College of Ob"erricians and Gynecologists.
Marernal Serum Screening. Educatio1U11 Bulktin. 1996; September
(228):3,5-8.
4. Wald NJ. Petsonal communication: Updated SURUSS
Esrimares of Screening Performance. To be published.
5. Nussbaum Robert L.. ediror. Thompson and Thompson
GIn.tier in M.t/icY". Grh ed. Phu.delphia: w.B. Saunders
Company; 200 I.
6. Palomaki GE. Neveux LM. !(jnghr GJ. Haddow JE.
Maternal serum-integrated screening for trisomy 18 using
born first (rimester- and second-trimester markers. Prmtltlll
Diagnosis. 2003 Mar: 23(31:243-247.
7. B",d1ey LA. P:uomaki GE, McDowdi GA. ONTO
Working Group. ACMG LaboCitOCY Qualicy Assurance
Commi((ee. Technical ,undards and guiddincs: Prcmw
screening for open neural tube defectS. Gm.tia in M.t/idnr.
2005 May-Jun;7(Sl:35S-369.
*The NT measurement should be performed
by a health care professional credentialed by
the Fetal Medicine Foundation. the Nuchal
Translucency Quality Review Program, or
an equivalent entity.
Integrated Test Technology under license
from Interna Ltd, UK.
Note: This material is provided for
general infonnation purposes only.
1t is not intended as a substitute for
medical advice and/or consultation
with a physician or technical expert.
CarePATH® Your guide to better health
I~ LabCorp
laboratory Corporal/on of America
Why Are Some Women Offered Diagnostic
Testing After the First Stage of Sequential
Screening?
Most women who undergo Sequential Screening will
complete the twO stages and have two blood samples
collected. A few women (less than 1%) however, will be
found to be at very high risk for having a baby with Down
syndrome or trisomy 18 after the first stage and will be
offered the option of diagnostic testing. Most women will
not be in clUs very high-risk group and should proceed
with the second stage of screening between the 15th and
21st weeks of pregnancy.
Why Should I Have the Second Stage of
Screening if I Am Not Screen-Positive
After the First Stage?
By itself, the first stage of screening at 10 to 13 weeks
of pregnancy has a much lower detection rate for
Down syndrome (and trisomy 18) than a test based
on combining measurements from both stages of
pregnancy (10 to 13 weeks and 15 to 21 weeks).
Studies show that about 3 out of 10 babies with
Down syndrome will be missed by the firSt blood
test alone. 1.2 Therefore, to achieve the highest
detection rate, women mUSt complete both Stages
of Sequential Screening.
What Are Down Syndrome, Trisomy
18, and Open Neural Tube Defects?
Down syndrome and trisomy 18 are conditions
caused by chromosomal abnormalities.
Chromosomes are present in every cell of the
body and contain genetic information that
helps determine how we look, how our bodies
grow and develop, and our health. A baby
normally receives 23 chromosomes from
each parent, so there are a total of23 pairs
of chromosomes in each cell. Sometimes
a baby can be born with tOO many or too
few chromosomes. Errors in the number of
chromosomes may cause a variety of birth
defects, ranging from mild to severe.
In Down syndrome, also called trisomy
21, the baby has an exua copy of the
#21 chromosome. All babies with
Down syndrome have some degree
of mental retardation and often
have physical abnormalities such as
heart defects. About 1 in 800 babies is born with Down
syndrome. 3 Sequential Screening is expected to detect 92%
of pregnancies with Down syndrome in the early second
trimester with 3.5% of unaffected pregnancies having
positive results (ie, a false-positive rate of 3.5%.)'
Trisomy 18 is also known as Edwards syndrome. Babies
with this condition have an extra copy of the #18
chromosome. Trisomy 18 causes severe mental retardation
and physical abnormalities. Most babies with trisomy 18
die within the first year of life. Trisomy 18 is rare. occurring
in 1 in evety 7500 births.' Sequential Screening is expected
to detect 90% of pregnancies with trisomy 18 with little
increase in the false-positive rate over the rate of 3.5%. 6
Open neural tube defects (ONTD). such as open spina
bifida. occur when the baby's neural rube. or spine, does
not close completely during development. About 1 in 1000
babies is born with open spina bifida. 2 The effects of open
spina bioda range from bladder control problems to paralysis
and hydrocephalus. Screening is performed by measuring
AFP levels in the second trimester of pregnancy and can
identifY 80% of pregnancies with open spina bifida with a
false-positive rare of 1% to 3%.3.7
What Does it Mean if My Sequential
Screening Is Negative?
A negative screening result indicates that, compared to
unscreened women. the risk that your baby has Down
syndrome is significantly reduced, but it cannot completely
rule OUt the possibility of this condition in your baby. The
measurements used in Sequential Screening can also be used
to identify pregnancies with a relatively low risk of trisomy
18 and open neural rube defects, but again, it cannot rule
out the possiblicy of a baby having either of these conditions.
Sequential Screening does noe detect other chromosome
abnormalities or birth defects.
Does a Positive Sequential Screening Result
Mean My Baby Has a Birth Defect?
No. Screening tests cannot indicate for cerrain whether or
not your baby has a birth defect. A positive test result can
only tell you that your baby is at increased risk of having
Down syndrome, and the measurements are also used to
identify pregnancies at a high risk for trisomy 18 or an
open neural rube defect if the AFP level is high. Typically.
a woman who has a positive screening result is offered
diagnOStic tests to determine if the baby has one of these
birth defects.
If My Screening Result Is
Positive, What Happens Next?
FoUow-up options are discussed
between you and your doctor. If
your screening resule is positive, your
physician may recommend one or more
of the following:
• Genetic counseling. Genetic counseling is designed to help you understand your test results and follow-up options and may include a discussion about your family and pregnancy histOry. Genetic counseling may be provided by a certified genetic counselor, a perinatologist (a specialist in high-risk pregnancies), or your own obstetrician. • Ultrasound. This procedure uses high­
frequency sound waves and a computer to create images of the developing baby. In the second trimester. a derailed ultrasound examination of the baby may be able to idemifY some birth defects, such as open spina binda. Babies with Down syndrome and trisomy 18 may have certain features that can be seen on ultrasound, but. in general, neither can be diagnosed by ultrasound alone. • Amniocentesis. This procedure is usually performed after the 15 th week of pregnancy. Ultrasound is used to guide a thin needle through the abdomen into the uterus, and a small amount of fluid (amniotic fluid) from around the baby is removed. The cells in the fluid are examined in the laboratory [0 determine whether a chromosome abnormality like Down syndrome or trisomy 18 is present. Amniocentesis can diagnose mose chromosomal abnormalities but cannot diagnose or identify all birth defects. Alpha-feroprotein (AFP) is also measured in the amniotic fluid, and if open spina bifida is suspected, a spinal protein called acetylcholinesterase (AChE) is measured as well. This combination of rests can diagnose most, but not all, babies with open spina biflda.1 • Chorionic villus sampling (CVS) is usually
performed between the lOth and 13th weeks of
pregnancy. In this procedure, a small piece of tissue
-
~-----