• 
• 
• 
  • Prenatal Screening Tests
  • Prenatal Diagnostic Tests
• 
• 
• 
• 
• 
• 

Prenatal Diagnosis

Most pregnancies result in healthy babies. However, some women have a greater chance of having a baby with a birth defect or a genetic disease. For this reason, pregnant women are typically offered screening tests, such as blood tests and/or ultrasound to evaluate the baby’s health. Our Maternal-Fetal Medicine physicians and genetic counselors have extensive experience evaluating women at risk of having an infant with a birth defect or a genetic disease as well as managing high-risk pregnancies. Using the latest prenatal screening tests available, our physicians and genetic counselors work as a team to evaluate for risk factors and to provide you with valuable information regarding the health of your baby.

What is genetic counseling?

Genetic counselors have specialized training in both genetics and counseling to help families understand and cope with the news of having, or being at risk of having, a genetic disease. Additionally, our certified genetic counselors are genetic experts capable of addressing your concerns in a caring, compassionate manner. Given that the questions you may have about your baby’s health can be overwhelming and anxiety-producing, our genetic counselors can serve as a valuable resource for your family. Our genetic counselors will thoroughly review any available screening tests with you along with potential benefits, risks, and limitations of the tests. These screening options are completely optional and consideration will be given as to whether a particular test could be helpful for your family.

Who may benefit from prenatal testing and genetic counseling?

• Women 35 years or older at the time of delivery
• Women with an abnormal ultrasound finding
• Women with an abnormal serum screening test indicating an increased risk for certain birth defects
• Couples with a family history of a genetic problem or birth defect
• Families with a history of unexplained mental retardation
• Couples who have had multiple miscarriages
• Pregnant women exposed to known "teratogens" (agents that can cause birth defects), such as alcohol, recreational drugs, certain medications, and some infections).
• Pregnancies complicated by diabetes.

What if fetal abnormalities are detected?

Diagnosing a fetal abnormality prenatally allows parents to make informed decisions regarding pregnancy care. Our Maternal-Fetal Medicine specialists and genetic counselors work closely with families to plan the best course for your pregnancy given the fetal abnormality detected. In some cases, consultation with Pediatric sub-specialists may be recommended to give parents additional information regarding the fetal abnormality detected. In addition, our physicians will work directly with your Obstetrician since most women continue to receive pregnancy care from their primary Obstetrician. We understand that the news of a fetal problem during pregnancy is a significant stress for all family members involved. To assist families cope with their individual situations, we offer a variety of additional counseling and support services.