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Down syndrome- does your baby have it or not?

Posted Dec 14 2008 10:05pm

Regardless or your age, if you really want to know if your baby has Down syndrome while you're pregnant, you need to opt for invasive testing.

The American College of Obstetrics and Gynecology (ACOG) started the New Year by recommending Down syndrome screening for all women, regardless of age.

The new ACOG guidelines recommend that all pregnant women consider less invasive screening options for assessing their risk for Down syndrome, a common disorder that is caused by an extra chromosome and can result in congenital heart defects and mental retardation. Screening for Down syndrome should occur before the 20th week of pregnancy.

"This new recommendation says that the maternal age of 35 should no longer be used by itself as a cut-off to determine who is offered screening versus who is offered invasive diagnostic testing," noted Deborah Driscoll, MD, a lead author of the document and vice chair of ACOG's Committee on Practice Bulletins-Obstetrics, which developed the Practice Bulletin with ACOG's Committee on Genetics and the Society for Maternal-Fetal Medicine.

ACOG also advises that all pregnant women, regardless of their age, should have the option of diagnostic testing. ACOG recognizes that a woman's decision to have an amniocentesis or CVS is based on many factors, such as a family or personal history of birth defects, the risk that the fetus will have a chromosome abnormality or an inherited condition, and the risk of pregnancy loss from an invasive procedure.

Although most pregnant women would rather do less invasive testing (which is a blood test called the quadruple serum screen ), the truth is that it is not as accurate as an amniocentesis or chorionic villus sampling (CVS).

The quadruple serum screen has no real risk to you or your baby; it's just a blood test. But it is only an estimate of the chance that your baby has a chromosomal problem.

The amniocentesis (which we do in the second trimester by placing a needle in your belly) or the chorionic villus sampling (which we do in the first trimester, also by placing a needle either in the belly or through the vagina) carry an estimated risk of 1 in 100 to 1 in 200 chance of having a miscarriage. But these tests are essentially 100% accurate in detecting Down syndrome.

You need to decide how important it is for you to know the genetic makeup of your unborn child. Some women want to know because abortion is an option for them. Other women want to know so that they can prepare to care for a child with a genetic problem. Whatever your reason is, invasive testing is the most accurate way to detect anomalies, so do not disregard this as an option.

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