June 21, 2001 Physicians at the University of Maryland Medical Center are using a new ultrasound technique to detect increased risk of genetic abnormalities like Down syndrome and heart disorders in unborn babies.
The beauty of the ultrasound test -- called nuchal translucency screening -- is that it is accurate, non-invasive and is performed at 10-14 weeks, much earlier in the course of pregnancy than amniocentesis.
“Its key attribute is that it doesn’t involve an invasive amniocentesis. We get reliable information without risk to child or mother,” says Christopher Harman, M.D., director of the University of Maryland Medical Center’s Division of Maternal and Fetal Medicine and professor of obstetrics, gynecology and reproductive sciences at the University of Maryland School of Medicine.
The nuchal translucency screening test involves using ultrasound to measure a specific area of the baby’s neck that can be an early indicator of both genetic disorders and heart abnormalities. By measuring blood fluid in this limited region, physicians are able to assess risk for genetic abnormalities such as Down syndrome, which are known to be accompanied by abnormal distribution of fluid.
Ultrasound is a standard imaging tool that uses high-frequency sound waves to bounce off the body and create a picture. It is a highly anticipated test for many parents-to-be, allowing doctors to see how the baby is developing. It sometimes reveals the sex of the child.
But the diagnosis of genetic disorders like Down syndrome historically has meant undergoing amniocentesis, an invasive test that requires the insertion of a long hollow needle into the uterus to draw fluid from the sac surrounding the fetus for further testing. The test may be uncomfortable for the mother and there is a small chance of infection or injury to the fetus. There also is a small chance of miscarriage. This test typically is not performed until the fifteenth week of pregnancy or later.
Now, OB/GYN patients at the University of Maryland Medical Center can include nuchal translucency screening, an ultrasound procedure that takes about 10 minutes, as the first round of testing that any mom-to-be undergoes throughout the course of her pregnancy.
“Basically we’re offering it to all who are concerned about the possibility of a chromosomal abnormality. It’s a relatively quick and easy test that provides important information relating to both mom and child,” says Dr. Harman. “We’re convinced this is an important advance in fetal medicine.”
Though this screening test is more commonly used in other countries, the University of Maryland Medical Center was the first of a growing number of sites in the United States certified by the Fetal Medicine Foundation to use nuchal translucency screening to diagnose genetic and chromosomal abnormalities.
“The University of Maryland Medical Center was the first in the country to have four certified physicians providing the service. We have had excellent results in our first 1,000 patients,” says Dr. Harman.
Dr. Harman thinks it’s a tool whose time has come. “This has presented us with an opportunity for very early assessment of risk for Down syndrome and other chromosomal abnormalities. For patients who may have a child with a genetic disorder, this is a tool that helps them prepare more thoroughly and as far in advance as possible.”
Though some parents will learn that their child may have a serious disorder like Down Syndrome, for the overwhelming majority, the news will be reassuring.
“Almost every mother-to-be, regardless of her age, health or risk factors, has a nagging, underlying fear that her child may have a serious disease or disorder. This quick and simple test can yield some very valuable information that eliminates many potential worries and helps put a mother at ease. More often than not, we hear an audible sigh of relief,” says Dr. Harman.
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