Pregnancy marks a lifelong commitment to the well-being of another life. After a woman finds out she is pregnant, there is a long list of factors she must consider for her own health and the health of her baby. One important advancement in prenatal care has been the development of prenatal testing options. This relatively new range of tests can help parents better understand if their child is at risk for developing a genetic abnormality while in-utero.
First Prenatal Appointment
During a woman’s first prenatal appointment, doctors will often try to best determine the woman’s due date using information gathered, a blood test, and an ultrasound. At the same time, doctors may also ensure that the pregnant woman is screened for undetected STDs, noticeable early fetal abnormalities, and general good health. Any potential risks for the mother and the baby during pregnancy can be discussed during this first appointment.
Non-Invasive Prenatal Testing
If the developing fetus is determined to be at risk for certain genetic disorders according to the information obtained from the first prenatal appointment, doctors may recommend noninvasive prenatal testing. These tests are always available to pregnant women, but physicians specifically recommend prenatal genetic testing in cases where the mother is of advanced maternal age (35 years or older), or has previously given birth to a child with a genetic disorder.
This test only requires a simple blood draw and can be performed as early as nine weeks into the pregnancy. In addition to revealing the sex of the baby, this screening test can detect chromosomal abnormalities such as trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome), and several other genetic disorders.
If a noninvasive prenatal screening test comes back positive or inconclusive, the mother will likely be referred for additional diagnostic testing to confirm the abnormality and the family will be referred to a genetic counselor for further guidance and support. A genetic counselor will also help the family to prepare for any lifestyle changes and care that the child may need later in life if the child is indeed found to have a genetic condition based on diagnostic testing.
If you have any questions about prenatal testing or would like to find out more, talk to your doctor or make an appointment with a genetic counselor as soon as possible.