A new prenatal gene test may be able to detect Down syndrome

All expectant parents hope to have a healthy baby. Many of them, particularly women in high or moderate risk pregnancies, will check the health and wellbeing of their fetus by opting for genetic testing to rule out chromosomal abnormalities such as Down syndrome.

Residents of New Jersey may be interested to know that clinical trials for a new prenatal gene test referred to as “microarray” are promising. Microarray performed better than standard prenatal screening and diagnostics in detecting numerous genetic abnormalities in a fetus than ever before.

However, this technique requires doctors to obtain fetal cells. The cells are only obtainable through invasive procedures such as amniocentesis, wherein cells are retrieved by sticking a long needle into the womb, or chorionic villius sampling, wherein tissue is obtained from the placenta. Both these procedures carry a risk of a miscarriage.

Further, since this new technique uses a DNA-sensing chip to detect small abnormalities undetectable under a microscope, it is not always possible to confidently state if it will be harmful to the child or how severe the abnormalities will be. Parents may know there is a problem without knowing how severe the problem will be, potentially causing undue anxiety.

In fact, a 33-year old New Jersey woman who participated in the clinical trials stated that a chromosomal deletion was detected in her unborn child that could or could not lead to kidney and uterus issues. She further stated that even though she is vigilant regarding the health of her now 2-year old child, the information caused considerable stress.

Nevertheless, proponents of this new technique state that the benefits of testing far outweigh any anxiety issues and risk associated with getting the fetal cell samples. The chief scientific officer for molecular diagnostics notes that if one makes a mistake in prenatal care, it could potentially lead a family to make a wrong decision.

Genetic testing gives expectant parents an option to get tested, but doctors who perform the invasive procedures can make mistakes causing harm to the fetus or inducing a miscarriage. Further, labs can make errors in interpretation leading to misdiagnosis or failure to diagnose. Doctors and other health care professionals have an ongoing duty to provide a reasonable standard of care. Negligent care resulting in harm may entitle families to just compensation for the injury.

Source: New York Times, “Clinical Trial is Favorable for Prenatal Test,” Andrew Pollack, Aug. 8, 2012

Posted in: Birth Injuries