Devon Ramaeker, MD, discusses the diagnostic benefits and future of genetic testing

Rapid advances in prenatal genetic testing are changing how clinicians diagnose and counsel expectant parents, according to Devon Ramaeker, MD, division director of Maternal-Fetal Medicine at Allegheny Health Network Women’s Institute. Speaking in an interview with Contemporary OB/GYN, Ramaeker highlighted the increasing complexity and importance of early genetic assessment in pregnancy.

“Our goal is for early and accurate fetal diagnosis and identifying what we call congenital anomalies, or fetal birth defects,” Ramaeker said. “So that patients can have the opportunity to have a really thorough discussion regarding options for pregnancy, including genetic testing.”

A growing range of testing options is now available, including both invasive diagnostic procedures such as chorionic villus sampling and amniocentesis, and non-invasive methods based on maternal bloodwork. “The prenatal genetic testing field has really just exploded in terms of availability of different types of testing options for patients,” Ramaeker said.

She added that combined with improved ultrasound technology, testing has led to more frequent detection of cardiac defects and growth abnormalities, particularly in early pregnancy. “It's not one specific genetic abnormality,” she said. “It's the fact that we are able to do a little bit broader test to look for less common genetic abnormalities.”

However, expanding capabilities bring new uncertainties. Ramaeker noted that some findings—classified as variants of unknown significance—may not be clearly linked to clinical outcomes. “What we are finding is that there may be abnormalities detected that we are not certain if they are associated with abnormal outcomes or even the birth defects that we're seeing on ultrasound,” she said. “I think that can be the most challenging part for patients.”

Carrier screening and aneuploidy screening remain common and important components of prenatal care, but Ramaeker acknowledged that time constraints in busy obstetric practices can make counseling difficult. “Taking the time to review the genetic screening options and or diagnostic options that are available to all pregnant patients is important,” she said.

Looking ahead, Ramaeker identified whole-exome sequencing as a promising area of development. She also emphasized the importance of education. “It’s really important that we try to do our best to educate our patients on what their options are,” she said.

Disclosures: Ramaeker reports no relevant disclosures.