OBGYNs now recommend that prenatal genetic screening be offered to all pregnant women regardless of their age or other risk factors.
Today, prenatal screening is an increasingly common part of the pregnancy journey. Once a service that was only offered to women over 35 years old, the American College of Obstetricians and Gynecologists (ACOG) recently revised their current practice guidelines to say that women of all ages should be offered genetic screening.
Working closely with OBGYNs, genetic counselors interpret genetic test results and guide and support patients seeking more information about inherited diseases, medical histories, which tests might be right for them, and how to make informed choices based on the results.
“Genetic counseling can add so much to the experience of being pregnant,” says Jovanni Cuevas, MS, genetic counselor in the Maternal Fetal Medicine Department at White Plains Hospital. “Even if you aren’t interested in having a genetic screening, it always helps to sit down with a counselor and hear about various options.”
Cuevas said the quality, accuracy and scope of screenings and diagnostic testing have come a long way, and that is one of the reasons behind the ACOG’s move.
Not all counseling sessions lead to testing. But if the pregnancy is at least 10 weeks along, the first test available is non-invasive prenatal screening (NIPS). This blood test coupled with an ultrasound generally looks for four genetic abnormalities by analyzing small fragments of DNA that are circulating in a pregnant woman's blood:
- Down syndrome (presence of an extra chromosome 21)
- Trisomy 13 (Patau syndrome – the presence of an extra chromosome 13)
- Trisomy 18 (Edwards syndrome – the presence of an extra chromosome 18)
- Sex chromosomes (looks at the 23rd pair to determine gender)
Should the screen come back positive or any of these conditions, further testing will be used to definitively confirm or rule out a condition. Genetic testing can also be customized based on family history or specific concerns, and additional tests include cystic fibrosis and spinal muscular atrophy, among others.
Dr. Caroline Stella, Director of Maternal Fetal Medicine at White Plains Hospital, notes that offering genetic counseling as part of the Hospital’s perinatology program is just one of the reasons that many expectant parents choose White Plains Hospital for their pregnancy journey, as not every hospital program offers one.
“It’s not just about getting excellent maternal-fetal and obstetrical care, it’s about supporting the expectant parents’ emotional aspect during this exciting time of life, and all the worry and hopes that go along with it,” says Dr. Stella. “Genetic counseling is one, important part of that. We want to make sure our patients have the most comprehensive experience possible, including access to a number of specialists should they be needed, depending on what the results of the screenings determine.”
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Dr. Caroline Stella is the Director of Maternal Fetal Medicine for White Plains Hospital, providing specialty care for women with high-risk pregnancies. To find out more about genetic counseling, or to make an appointment with Dr. Stella in White Plains, call 914-681-2164.