Prenatal genetic counseling & testing

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Every parent hopes for a healthy newborn. Prenatal genetic counseling can help you learn whether your baby is facing an increased chance of genetic issues or birth defects and take appropriate next steps. Our multi-disciplinary team offers comprehensive genetic services and works together to give you the highest level of treatment if risks are discovered.

Should you consider prenatal genetic counseling?

Prenatal genetic counseling is recommended for:

  • Pregnant women who will be 35 or older at the time of delivery
  • Individuals who are carriers of genetic disorders such as cystic fibrosis or hemophilia
  • Individuals or parents of a child with an intellectual disability or birth defect
  • Pregnant women with a maternal serum screening test indicating an increased risk for a chromosome disorder or neural tube defect
  • Members of certain ethnic groups with an increased risk of genetic disorders
  • Individuals or couples with a history of multiple miscarriages or infertility
  • Pregnant women exposed to potentially harmful agents like drugs, radiation, alcohol or viruses
  • Pregnant women or prospective parents interested in discussing the many options available to learn more about the health of their current or future baby

If any of these factors apply to you, schedule an appointment by calling 800-3-ADVOCATE or finding an OB/GYN online near you.

What to expect during your visit

During your visit, our experts will inform you of the many prenatal genetic testing options available and help you decide which one best suits your needs or concerns.

Our comprehensive services

First trimester screening: This test requires an ultrasound and a maternal blood draw. The ultrasound measures the fetal gestation as well as the nuchal translucency, which is a fluid-filled area at the base of the fetal neck. This is a no-risk screening option that can identify pregnancies at higher risk of Down syndrome or other rare chromosome disorders and eventually other birth defects. This testing is ideally performed between the 11th and 13th weeks of pregnancy.

Second trimester screening: This test is similar to a first trimester screening with the addition of a marker for neural tube defects.

This is a more sensitive maternal blood test that measures fetal DNA to screen for chromosome disorders.

This test is performed in the first trimester of pregnancy (between the 11th and 13th weeks) to diagnose chromosome issues or genetic disorders. Under ultrasound guidance, a small portion of placental material is removed and later analyzed at a clinical laboratory.

This no-risk screening looks for physical birth defects or growth issues near the end of the second trimester (20th week+) using a high-resolution ultrasound.

Fetal echocardiography is a targeted, high-resolution ultrasound assessment that looks for structural problems with the heart. It's typically performed late in the second trimester (20th week+).

This test is designed to screen parents for genetic mutations.

In certain high-risk pregnancies, enhanced resolution of fetal genetic material may be able to diagnose specific birth defects.

Benefits of genetic testing

Prenatal genetic testing could be the right move for you because it:

  • Provides important information to individuals with or without family histories of genetic conditions or birth defects.
  • Allows individuals to learn more about the conditions in question, understand their risks more clearly and discuss their options for prenatal screening, testing and/or assisted reproduction techniques.
  • Prepares individuals for the birth of a child with special needs if a genetic condition is discovered or allows them to explore other options, such as pregnancy termination or adoption.
  • Makes way for vital support during what can be a difficult and confusing time.

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