Nuchal Translucency Screening Specialist

What is nuchal translucency screening?

Nuchal translucency screening is a prenatal test your OB/GYN uses to detect fetal abnormalities, such as:

Down syndrome

Down syndrome is a genetic condition that results in an irregular or extra chromosome and intellectual and physical disabilities. People with Down syndrome have distinctive facial characteristics and a greater risk of health problems, such as heart abnormalities, respiratory defects, and intestinal problems.

They often grow and develop slower than other children but can still lead an active lifestyle and care for most of their needs as they get older.

Trisomy 13

Trisomy 13 is a chromosomal condition linked with severe intellectual and physical disabilities, heart defects, spinal cord or brain abnormalities, eye problems, a cleft lip, and weak muscle tone. Many infants with trisomy 13 don’t survive past the first few weeks of life.

Trisomy 18

Trisomy 18 is another chromosomal condition associated with slow growth, low birth weight, numerous fetal abnormalities, organ problems, heart defects, an abnormally shaped head or jaw, clenched fists, and life-threatening medical problems. Many infants with trisomy 18 pass away within the first month of life.

Your doctor might recommend nuchal translucency screening between weeks 11 and 14 of your pregnancy to screen for these and genetic abnormalities. However, you’ll require further testing to know for sure.

What should I expect during nuchal translucency screening?

Nuchal translucency screening involves an ultrasound and blood work. Ultrasounds measure the thickness of fluid at the back of your baby’s neck. If it’s thicker than normal, further testing is necessary to find out if your baby has Down syndrome or trisomy 13 or 18.

A blood draw may take 5-10 minutes and ultrasounds usually take 20-40 minute to complete. Your doctor sends your screening information to a lab, and receives the results within about a week. If your baby shows a probability of having genetic abnormalities, your doctor may recommend additional genetic tests.

What happens after nuchal translucency screening?

If nuchal translucency screening is normal, no further testing is necessary. However, if your doctor detects a potential problem, they may recommend chorionic villus sampling or amniocentesis to further evaluate the health of your baby.

Prenatal testing lets you know what to expect during and after your pregnancy. While these tests are optional and not always 100% accurate, many pregnant women find peace of mind knowing more about the health of their unborn babies. To schedule a nuchal translucency screening test, call Beach Obstetrics and Gynecology Medical Group or use the online scheduler today.