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  • Michael Frey, MD

Genetic Testing

Testing we offer during the first trimester

There are four types of genetic testing we offer in the first trimester:

  • Carrier Screening: is testing mom (that's you) for various genetic disorders. If you "carry" a gene for a disorder, we may need to test dad for the disorder as well. You may also be referred to genetic counselors if you "carry" a gene for one of the disorders tested for. The standard pan-ethnic panel tests for cystic fibrosis (CF), fragile X syndrome, Smith-Lemli-Opitz syndrome (SLOS), and spinal muscular atrophy (SMA). These tests can be done anytime before or during pregnancy.

  • NIPS test, Noninvasive Prenatal Screen: which can help you learn more about your chance of having a child with a chromosomal abnormality, such as Down syndrome.

  • First Trimester Screen: with Nuchal translucency screening (NT), nasal bone and biochemistry achieve 95% detection sensitivity for Down syndrome and certain heart defects. This is an ultrasound and finger prick combination that’s performed around weeks 11 to 14. This test is accompanied by a Preeclampsia screen test.

  • Chorionic villus sampling (CVS): is a test that can find certain problems with your fetus. These include many diseases that run in families (genetic disorders) and chromosome defects. It is done during early pregnancy, most often between the 10th and 13th weeks. This is done at the reproductive genetics department. The sample is collected by putting a thin tube (catheter) through the vagina or by putting a long, thin needle through the belly. Ultrasound is used to guide the catheter or needle to the right spot. CVS can find many genetic disorders, such as Tay-Sachs disease and hemophilia. It can also find chromosome defects, such as Down syndrome. CVS can't find neural tube defects. CVS is done earlier in pregnancy than amniocentesis (usually done at 15 to 20 weeks). And the results of CVS are available sooner. This gives you more time to make decisions about your pregnancy or plan for the future.

-DEPARTMENT OF GENETICS AT MOUNT SINAI: If you are referred to genetics, please click here for more information. The contact phone # is call 212-241-6947. The address is 1428 Madison Avenue (cross street 99th St.) 1st floor, Atran building New York, NY.

Should you have genetics testing in your pregnancy?

It is your choice whether to have genetic testing. Your personal beliefs and values are important factors in the decision about prenatal testing.

It can be helpful to think about how you would use the results of prenatal screening tests in your pregnancy care. Some parents want to know beforehand that their baby will be born with a genetic disorder. This knowledge gives parents time to learn about the disorder and plan for the medical care that the child may need. Some parents may decide to end the pregnancy in certain situations.

Other parents do not want to know this information before the child is born. In this case, you may decide not to have testing. There is no right or wrong answer.


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