Before you receive an ultrasound or other diagnostic testing in our office, or even if you choose not to receive diagnostic testing, you will likely be scheduled to see a genetic counselor. Genetic counselors are specially trained professionals who review your family history and attempt to assess the level of risk that your fetus might have for genetic problems or birth defects. Genetic counselors will review your options for available tests and, should you decide to undergo testing, will report the results to you, explain their significance and answer any questions you have. Even if you choose not to undergo testing, a visit with a genetic counselor is recommended.
Since genetic information and testing available is constantly changing, even if you met with a genetic counselor during a previous pregnancy, you will repeat this visit in every pregnancy.
There are many reasons to meet with a genetic counselor prior to your ultrasound. Here are some of the most common:
In cases of increased risk of chromosomal abnormality
When maternal age, a positive screening test or ultrasound findings indicate increased risks of chromosomal abnormalities, a genetic counselor can further evaluate those concerns.
In cases of increased risk of genetic disorders
Factors including Askenazi Jewish heritage, Cajun heritage, or positive cystic fibrosis (CF) testing or spinal muscular atrophy (SMA) testing in parent(s) can increase a fetus's risk of genetic disorders, and a genetic counselor can help to evaluate those risks.
If there is a family history of birth defects or genetic disorders
If either parent has close relatives born with birth defects or genetic disorders, a genetic counselor can evaluate the chances of a fetus having related defects or disorders.
If there is a question of paternity
If paternity is not known or is not certain, genetic counseling can be key in determining what unknown risks might be present.