So, who are genetic counselors and what do they do? These licensed professionals work closely with your OBGYN to identify and recommend screening for potential genetic abnormalities that could affect your baby’s health. While age does raise the chances of certain risks, your birthdate is not the only factor you should consider.
The first step is having sit-down meeting, usually informal to start, so the counselor can get to know more about you. They will speak with you to get more information about any inherited diseases and ask questions about your medical history.
“Genetic counseling can add so much to the experience of being pregnant,” says Dr. Caroline Stella, Director of Maternal Fetal Medicine 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.”
Not all counseling sessions lead to testing. Sometimes just talking it through and getting the facts can help to set your mind at ease or help you make a decision about next steps. But if you are at least 10 weeks along, you may be offered non-invasive prenatal screening (NIPS). You’ll be asked to give a blood sample that looks for small fragments of DNA circulating in your blood, as well as undergo an ultrasound to try to spot any physical signs of abnormality.
The conditions doctors are specifically looking for include:
- 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)
Should the screen come back positive or any of the abnormal 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.
“It’s not just about getting excellent maternal-fetal 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 various diagnostic testing options should they be needed, depending on what the results of the screenings determine.”
To find an OBGYN at White Plains Hospital, call (914) 681-MyMD.