Women are routinely offered a variety of genetic screening tests during their first three months of pregnancy to evaluate the risk for genetic disorders in their unborn baby. The first trimester screening tests are usually done between the 10th and 13th week of pregnancy. They involve measuring the level of certain substances in the mother's blood and obtaining an ultrasound. Genetic screening tests can be done during the second trimester as well.
Information from these screening tests, along with other risk factors such as a woman's age and a couple's ethnic background and family history of genetic disorders, are used to help calculate the odds that the fetus might be born with genetic disorders, such as Down syndrome, cystic fibrosis, Tay-Sachs disease, or sickle cell anemia.
Birth defects affect 1 in 33 babies born in the United States each year, according to the Centers for Disease Control and Prevention (CDC). The CDC also said that birth defects can occur at any point during pregnancy, but most of them take place during the first trimester, when the baby's organs are forming.
Screening tests can help tell parents-to-be whether the fetus may be at high or low risk of having a chromosomal abnormality, but the only way to actually know if the baby will be born with a problem in its genetic makeup is by doing diagnostic testing, according to the National Institutes of Health (NIH).
Whether or not a woman decides to undergo genetic screening is her own choice, as positive results could produce anxiety and conflicting emotions.
Making a choice
Genetic screening is offered to all pregnant women, and it's usually discussed during the first prenatal visit, said Dr. Andrea Greiner, a maternal and fetal medicine specialist at the University of Iowa Hospitals and Clinics. "It's optional, but not required."
In trying to decide whether or not to undergo prenatal genetic screening, Greiner recommended that moms-to-be ask themselves if they want to know if their babies risk for certain chromosomal abnormalities or genetic defects is increased, and if it is, then how will this information affect them.
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