Obstetricians are constantly looking for better ways to diagnose Down syndrome. Currently, women with high risk factors associated with Down syndrome are urged to undergo amniocentesis.
Amniocentesis involves sticking a large needle into the amniotic sac and removing amniotic fluid. The fluid is tested for Down syndrome and other genetic disorders. Researchers have produced a blood test that can detect Down syndrome as early as eight weeks gestation. This test could completely eliminate the need for amniocentesis to test for Down syndrome.
Controversy over Down syndrome testing is a constant hot spot in the obstetric community. Some patients vehemently deny amniocentesis and chromosome testing; assuring doctors they have no intention of altering the pregnancy if the test comes back positive. Others abort the pregnancy after testing positive for Down syndrome.
Severity of Down syndrome and other chromosome disorders vary widely. Down syndrome slows down development, both physically and mentally. The average life span is about 60 years, but there are cases where Down syndrome patients have lived longer.
The two blood tests being pushed to market are produced by Sequenom and Verinata Health. Sequenom can be used at about 10 weeks gestation. Verinata Health claims their test works as early as eight weeks gestation. The two companies are not ready to reveal the cost of testing to pregnant women and there is no information regarding insurance coverage. In both cases, blood test results are available in about 10 days. After testing positive, the pregnant woman is given the option to keep the pregnancy or abort the pregnancy.
Early testing is a step in the right direction, diagnostically, but some worry about the impact on pregnancy outcome. Currently, chorionic villus sampling (CVS) for Down syndrome must be completed no earlier than 10 weeks gestation. By 10 weeks, some pregnant women have already heard the heartbeat of their unborn child, making a connection between child and mother. If the test is performed before a woman bonds with the fetus, it could increase the number of abortions.
Source: Medical News Today. 19 October, 2011.
Trial: Papageorgiou EA, Karagrigoriou A, Tsaliki E, et al. Nature Medicine 2011. 6 March, 2011.
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