What to Expect During the Test
First Trimester Screen (Full Integrated Screening)
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11 to 13 weeks 6 days
All pregnant women are offered this test
The screening assesses your baby’s risk for Down Syndrome (trisomy 21), trisomy 18, and trisomy 13- all chromosomal abnormalities-with 90% accuracy. It has a 5% false-positive risk.
1st step: An ultrasound that measures the nuchal fold (at Baby’s neck) and examines the nasal bone to identify Down Syndrome.
2nd step: Your blood is drawn and analyzed for plasma protein A (PAPP-A) and beta human chorionic gonadotropin (beta-HCG)
Cell- Free Fetal DNA Test
10 weeks onward
Women 35 and older or those at high risk for certain chromosomal abnormalities may take this instead of the First Trimester Screen. You can also take this if you had an abnormal 1st or 2nd trimester screening and want to avoid an invasive test.
This blood test (also known as Non-Invasive Prenatal Diagnosis Testing) can detect Baby’s risk for chromosomal abnormalities such as trisomy 21 (Down Syndrome), trisomy 18 (Edward’s Syndrome), and trisomy 13 (Patau Syndrome) with up to 99% accuracy. You’ll also be able to find out the Baby’s gender.
The test is a simple blood draw that allows doctors to study the tiny fragments of Baby’s DNA floating in your blood stream. The hard part is waiting 8-10 days for results.
Chorionic Villus Sampling (CVS)
10 to 14 weeks
Women whose First-Trimester Screen revealed a potential problem, women who are 35 or older, or those who have a family history of a genetic disorder.
This test will determine if your baby has a chromosomal abnormality or another genetic disorder. You’ll also be able to find out the Baby’s gender.
The doctor inserts a thin, hollow tube through the cervix or a needle into your abdomen to remove a sample of chorionic villi (hair like projections of the placenta containing fetal cells). The removal process takes about a minute.
There is a 1% risk of Miscarriage
Second Trimester Screen (Quad Marker Screen)
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15 to 20 weeks
Women who decided to do the Full Integrated Screening. Women who didn’t take the First Trimester Screen; those who are at risk for chromosomal abnormalities, and those who had an abnormal anatomy ultrasound.
This test reveals your baby’s risk of having a chromosomal abnormality or a neural-tube defect such as spina bifida. The screen correctly identifies about 80% of women carrying a baby with Down Syndrome, but it turns up false positives in 6 to 7% of cases.
Your blood is drawn and analyzed for levels of four substances: maternal serum alpha-fetoprotein (MSAFP), human chorionic gonadotropin (hCG), estriol, and Inhibin A.
Any time after 15 weeks
Women whose previous screening test revealed a potential problem. Women who are 35 or older, and/or those who are at increased risk for certain conditions.
Like CVS, this diagnostic test will show whether your baby has a chromosomal issue, and can also be used to test for a gene disorder, such as cystic fibrosis. Once you know your baby’s results, you’ll also know the gender.
The doctor inserts a thin, hollow needle into your abdomen to remove some amniotic fluid, which contains cells with Baby’s chromosomes and DNA. You may feel pinching or stinging and some cramps.
There is a 0.5% risk of miscarriage as well as a small risk for rupture of membranes
NOTE: All testing is optional, for cost and insurance coverage please contact your insurance carrier.