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Genetic Carrier Screening

OB/GYNs located in Duluth, GA & Dunwoody, GA

Comprehensive Women's OB/GYN

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Many couples use genetic carrier screening to help identify what medical conditions their future children might inherit. The expert team at Comprehensive Women’s OB/GYN can explain the pros and cons of genetic carrier screening. They also offer noninvasive prenatal testing (NIPT). Widely recognized for their dedication to women’s health, these board-certified specialists combine outstanding medical care with the warmth and respect you deserve from your health care team. Schedule a visit today for pre-pregnancy screening or prenatal care by calling the office or booking your appointment online.

Genetic Carrier Screening

Carrier screening is a genetic test that can tell whether you or your partner carry a gene for specific genetic disorders. A carrier is someone who has only one gene for a certain disorder. They typically don’t have any symptoms of the disorder, and any symptoms that might develop are mild. Carriers often don’t even realize they have the gene. When done before or during pregnancy, carrier screening can identify your chances of having a child with a genetic disorder.
If both parents are carriers of a recessive gene for a specific disorder, there’s a 1-in-4 chance your child will inherit the gene from each parent and thus have the disorder. When one or both parents are carriers, there’s a 1-in-2 chance your child will be a carrier of the disorder in question.

Carrier screening can be target-specific and based on conditions that may be influenced by your ethnic group or family history. Tay-Sachs disease, for instance, is most common in people of eastern or central European, French Canadian, and Cajun descent.

You can also choose expanded carrier screening that, regardless of your ethnicity or family history, checks for up to 100 disorders. These may include:

  • Cystic fibrosis
  • Fragile X syndrome
  • Sickle cell disease and other conditions affecting red blood cells
  • Tay-Sachs disease
  • Spinal muscular atrophy (SMA)

Your Comprehensive Women’s OB/GYN physician can explain each type of screening in detail and help you make an informed decision about which type of screening to choose. 

Throughout pregnancy, your blood contains fragments of DNA that are shed by the fetus and cross into your system by way of the placenta. NIPT testing involves taking a sample of mom’s blood and isolating the baby’s DNA to check for certain genetic disorders. This eliminates any risk of harming the fetus during prenatal screening.

NIPT is most often used to detect:

  • Trisomy 21 (Down syndrome)
  • Trisomy 13 (Patau syndrome)
  • Trisomy 18 (Edwards syndrome)

NIPT testing can also identify extra or missing copies of the X and Y chromosomes (the sex chromosomes).

For details you can trust regarding the pros and cons of carrier screening and NIPT, schedule a visit at Comprehensive Women’s OB/GYN today. Call the office nearest you or book your appointment online.

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