Though the vast majority of babies born each year are healthy and without any abnormality, there are many tests available that screen for genetic abnormalities and other birth defects. The most common serious genetic disorders are Down Syndrome and Trisomy 18.
Though women at any age can have a baby with Down Syndrome, the risk increases as women get older. For instance a 30 year old woman’s risk of having a baby with Down Syndrome is approximately 1 in 900, while a 35 year old’s risk is 1 in 300 and a 40 year old has a 1 in 100 risk.
Some tests to consider:
NT (nuchal translucency)—This ultrasound measures the baby’s neck (nuchal) fold thickness at 11 to 14 weeks to screen for Down Syndrome. This test by itself has a 60 to 80% accuracy.
Combined screening—Uses a blood test from the pregnant mom that measures pregnancy proteins and is done at 9 to 14 weeks. The results are then combined with the NT (nuchal translucency ultrasound) measurements to assess risk of Down Syndrome. The benefit of this test is that it's not invasive and therefore, there is no risk of miscarriage. These combined tests will detect about 85% of affected pregnancies.
Combined Integrated Screening – Also known as Stepwise Sequential Screening. This helps determine the risk of Down Syndrome by using the results from the Combined Screening done at 9 to 14 weeks combined with the Quad Marker test done at 15 to 20 weeks. This test screens for Down Syndrome, Trisomy 18 and spinal cord or neural tube defects (NTD). The accuracy is approximately 90 to 95% when all these tests are done together. Often families receive one set of results from the first test that can be worrisome and then have to wait for the second Quad Marker test results before finding out if the baby is okay. The benefit of this test is that it's not invasive and therefore, there is no risk of miscarriage. However, waiting for the results can be difficult.
Quad Marker Test - Also known as the AFP (Alpha-Feto-Protein) test, this is performed at 15 to 20 weeks. It is most accurate between 16 to 18 weeks. This test helps find babies with Down Syndrome, Trisomy 18 or a spinal cord or neural tube defect (NTD). About 70% of babies with these genetic disorders and about 90% with NTDs are found. If the test is positive, further testing with ultrasound and amniocentesis is advised. The benefit of this test is that it's not invasive and therefore, there is no risk of miscarriage.
Carrier testing for cystic fibrosis, Tay-Sachs, sickle cell – Or other serious inherited disorders. Pregnant women are tested to determine if they are carriers for any of these or other serious inherited disorders. If she is positive, the baby’s dad is tested. Carriers don’t show any signs of disease. Both parents must be carriers to have a chance of having an affected baby.
CVS (chorionic villus sampling)
This test for genetic defects is done at 10 to 12 weeks, and is often offered to women who are 35 or older. Guided by ultrasound, a small catheter is inserted through the abdomen or vagina to remove a very small amount of chorionic villi, which later develops into the placenta.
The cells are analyzed for genetic defects and the baby’s sex is determined. This does not test for spinal cord defects. CVS is 98 –99% accurate in detecting Down Syndrome and Trisomy 18. The miscarriage rate is approximately 1 in 200 to 1 in 300.