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Your doctor may be referring you to our office for evaluation of your baby because of your age, because of a family history of a prior problem, because an ultrasound suggested a possible problem with your baby, or perhaps because a multiple marker screening test, commonly called the “AFP test,” was found to be abnormal. We strongly encourage patients to visit with our genetic counselor to discuss the specific risks to your pregnancy, as well as to review the prenatal testing options outlined below:
First Trimester Screening is a powerful new screening option which will assess the possibility of a chromosomal abnormality in the baby. It is a combination of a sonographic measurement of the baby’s nuchal fold (skin thickness at back of neck) with a blood test from the mother. Performed appropriately, this test can identify 80-90% of babies with a chromosome abnormality. The American College of Ob-Gyn (ACOG) is now recommending that all pregnant women be given the option of having this screening test. It must be performed between 11-14 weeks gestation. The physicians and sonographers at PCI have been certified to perform this test.
A detailed obstetric ultrasound performed ideally between 18-22 weeks gestation is a non-invasive means of evaluating a fetus for possible structural or chromosomal abnormality. While able to provide significant information about a fetus, this procedure cannot definitively rule out a chromosome abnormality even when normal.
Chorionic Villus Sampling (CVS)
This procedure must be performed between 10 – 12 completed weeks gestation. It involves insertion of a needle into the placental tissue (under ultrasound guidance) and withdrawing a small amount of this tissue which is then sent to a laboratory to determine the chromosomal make-up of the fetus. This test is highly accurate in ruling out an abnormality of chromosome number, like Down syndrome. The disadvantage of this test is that it carries a small risk of pregnancy loss.
A genetic amniocentesis can be performed any time after 15 weeks gestation. This is a very accurate test to rule out a chromosome abnormality, similar to CVS. This test is also performed under ultrasound guidance, and involves placement of a needle into the amniotic fluid surrounding the fetus, withdrawing a small amount of this fluid, and then sending it to a genetic laboratory for evaluation. The disadvantage of this test is that it also carries a small risk of pregnancy loss.
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