Genetic counselors are healthcare professionals who work with couples and individuals for a variety of reasons, including:
- Prenatal care: Helping women and/or couples who are planning a pregnancy, or who are pregnant, learn more about their pregnancy.
- Pediatric care: Diagnosing a child who shows physical signs of a genetic condition.
- Adult risk assessment of inherited genetic disease: Helping individuals understand if they are at risk of passing on a gene associated with a certain genetic condition to their children.
- Cancer risk assessment: Helping individuals understand whether they have inherited a gene that may increase their risk of developing a certain type of cancer.
This article will explore the reasons why women and couples may seek help from a genetic counselor in a prenatal setting, throughout their pregnancy, in conjunction with prenatal care received by their obstetrician.
To Monitor for Potential Pregnancy Risks
Women who are of advanced maternal age of 35 years or older are at an increased risk of their baby being born with a trisomy chromosomal disorder, like Down syndrome. A chromosomal disorder is a genetic condition that develops as a result of an abnormal number or an abnormal structure of one or more chromosomes. A trisomy chromosome disorder occurs when an individual inherits three copies of the same chromosome, instead of the usual two. The extra genetic material causes significant delays in mental development and can also cause serious physical abnormalities, like structural heart defects or neural tube defects.
Women who are 35 years or older when pregnant may wish to meet with a genetic counselor to begin learning about available prenatal tests that can provide more information regarding their pregnancy.
To Further Explore Abnormal Ultrasound Results
During the first trimester, an obstetrician will perform what is called a first-trimester screening, which involves an ultrasound exam. Certain results, like a larger than normal nuchal translucency measurement (amount of fluid at the back of the baby’s neck), may indicate to an obstetrician that a chromosomal disorder may be possible. If this is the case, a doctor and genetic counselor may recommend prenatal testing. It’s important to know that prenatal testing is a choice, and is not mandatory.
Noninvasive prenatal genetic testing, or NIPT, is generally the first step in screening for a genetic or chromosomal cause of abnormal ultrasound findings. The results from a noninvasive prenatal test will help doctors understand the risk of a child being born with a trisomy disorder. If the results of a noninvasive prenatal test suggest a high risk of a chromosomal disorder, a genetic counselor can provide education on further testing options that can provide a definitive diagnosis, like amniocentesis or chorionic villus sampling (CVS).
To Discuss Prenatal Testing Options and Results
A genetic counselor will discuss the results of each prenatal test with a patient. If an individual has received a positive diagnostic result for a chromosomal disorder, a genetic counselor will counsel the individual on how to set their child up for success. This conversation may include topics like:
- How to seek out appropriate medical care and start building a healthcare team to support the healthy growth and development of the child
- How to seek out education options and find the best school for the child
How Do I Find a Genetic Counselor?
If you’re interested in working with a genetic counselor, your obstetrician may recommend a genetic counselor that they trust. You can also search the National Society of Genetic Counselors’ Find a Genetic Counselor website to find a professional in your area.
SOURCES:
https://www.nsgc.org/page/frequently-asked-questions-students#who
https://www.yourgenome.org/facts/what-is-a-chromosome-disorder
http://www.childrenshospital.org/conditions-and-treatments/conditions/trisomies-and-monosomies
https://www.verywell.com/ultrasound-findings-and-down-syndrome-1120394
https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/trisomy-disorders
