WHAT IS THE FIRST LOOK PROGRAM?
The First Look Program is a method of noninvasive screening performed early in pregnancy to look for problems in the developing fetus. Such problems can include birth defects, usually of the heart, chromosome abnormalities such as Down syndrome and, rarely, inherited diseases. This screening starts with an ultrasound measurement of the fluid at the nape of the fetal neck (the nuchal translucency). A maternal blood sample (for PAPP-A and total hCG) is also needed to specifically determine the chance a chromosome abnormality is present. A woman may want to consider this screening:
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if she is at increased risk for a child with a birth defect because of (1) a family member with a birth defect (herself, father of baby, or prior child), (2) she has particular medical conditions (such as diabetes) or (3) she has exposures to medications suspected of causing congenital malformations;
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if she is at increased risk for fetal chromosome abnormalities due to (1) maternal age > 35 years, or (2) a prior pregnancy with a chromosome abnormality;
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if she would like information early in her pregnancy about her risk of a chromosome abnormality.
WHAT IS INVOLVED?
To participate in the First Look Program at BWH, the following are needed:
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A requisition completed by your obstetric care provider detailing information about your pregnancy;
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An 11.0-13.9 week ultrasound at the Center for Fetal Medicine and Prenatal Genetics , Brigham and Women's Hospital (617-732-4208); and
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If screening for chromosome abnormalities is desired, a blood sample obtained at the Center for Fetal Medicine and Prenatal Genetics following your ultrasound is also needed.
HOW LONG DOES IT TAKE TO GET RESULTS?
In 1-3% of women, the ultrasound alone will indicate an increased risk. If this occurs, a genetic counselor will be available to assist you with further information as to your particular findings. As risk assessment for chromosomal abnormalities also requires a blood sample, these final results will be sent to your doctor in approximately one week.
WHAT IF MY RESULTS INDICATE AN INCREASED RISK?
Remember that as a screening tool, the goal of the First Look Program is to identify those women whose pregnancy is at increased risk for a birth defect, chromosome abnormality or inherited disease. If your risk for a birth defect is increased, further imaging studies will be recommended. If your risk for a chromosome abnormality is increased, directly testing the fetal chromosomes is possible by either chorionic villus sampling (at 11-14 weeks) or amniocentesis (>15 weeks). Most of the time, direct testing will reveal normal chromosomes. This does not mean that the screening process is a failure or someone has made a mistake. As opposed to CVS or amniocentesis, the screening process does not give a specific diagnosis, only an estimate of risk. Only CVS or amniocentesis can diagnose a chromosome abnormality; however either procedure has a small (1% or less) risk of miscarriage. The decision to undertake further testing by CVS or amniocentesis is individual. You will be given a risk (the chance the baby has a chromosome problem) based on your ultrasound and your blood test. You can decide whether the risk is large enough to warrant CVS or amniocentesis. Additional information specifically about chromosome abnormalities and CVS/amniocentesis is available in the accompanying brochure. Genetic counselors are also available to assist with any questions.
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First Look Prenatal Screening Consent Form
* I have reviewed this material as well as the booklet "First Trimester Test," which was provided to me. I have had an opportunity to ask questions and I have had my questions satisfactorily answered.
* I understand First Look provides an estimate of my risk and not a definitive diagnosis.
* I understand that a low risk indicates a decreased chance but does not eliminate the possibility that the fetus may have Down syndrome, chromosome abnormalities, or genetic disease.
* I understand that the screening is entirely voluntary. I may decline testing or follow up services at any time.
YES. I wish to have the First Look Screening to determine my risk that this pregnancy is complicated by a chromosomal abnormality, or birth defect.
Signature _________________________________________
Date ______________
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