Genetic Evaluation & Counseling.

With any pregnancy, there is risk for genetic abnormalities such as Down syndrome, trisomy 18, neural tube defects (e.g., spina bifida) and genetic diseases like Tay-Sachs or cystic fibrosis. But is a pregnancy at elevated risk? If so, what does that mean? What are the next steps?

The information women & families
need regarding genetic risks.

At Center for Maternal Fetal Medicine, our master’s-level genetic counselors assist in answering these and other questions and provide the vital information women and their families need. We help them understand their individual level of risk, the implications of that risk, the facts about the abnormalities and all options for additional tests or procedures.

Genetic testing
at the obstetrician’s office.

Standard obstetric tests screen for genetic disorders. But it’s important to remind patients that a “positive finding” merely indicates elevated risk and is not a diagnosis. Routine obstetric ultrasounds also find suspected abnormalities. These women — and all women over age 35 — should be considered at increased risk for genetic abnormalities and referred for maternal-fetal care that includes genetic counseling.

Knowing the risks
prior to conception.

Women with a family history of genetic disorders can benefit from genetic counseling prior to conception. But too few get the information they need about risks and options until after conception. Women who are considering childbirth and have a family history of the following should be identified and referred for genetic counseling:

• Down syndrome
• Trisomy 13
• Trisomy 18
• Trisomy 21
• Neural tube defects
• Cystic fibrosis
• Sickle-cell anemia
• Muscular dystrophy
• Tay-Sachs disease
• Hemophilia

Evaluating genetic risks sooner
& with state-of-the-art capability.

Even if a patient has already received genetic risk evaluation, we will usually perform a thorough ultrasound assessment. We’ll also conduct a detailed health history looking for a family history of genetic disorders. For any patient who hasn’t had second-trimester screening, we can perform the standard four-protein (“quad”) screen that indicates risk for Down syndrome, trisomy 18 and neural tube defects.

But we can assess risk for Down’s and trisomy 13 or 18 weeks earlier. We can draw blood in week 9 or 10, then enter ultrasound data in week 12 to determine a woman’s individual level of risk, with instant results upon completion of the ultrasound. We are the only provider in Nevada to do this. As maternal-fetal medicine specialists, we are trained and experienced in the evaluation and management of genetic risks. And because we are one of few U.S. teaching and research sites for Philips Ultrasound, our ultrasound capabilities are unsurpassed.