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Down syndrome - Prenatal Screening

Down syndrome - Prenatal Screening: Encyclopedia II - Down syndrome - Prenatal Screening

Pregnant women can be screened for various complications in their pregnancy. Some screens are designed to indicate neural tube defects (such as spina bifida), Trisomy 18, or Down syndrome, and other possible problems. There are two common non-invasive screens that can indicate an increased chance for a Down syndrome fetus. Triple Screen. This test measures the maternal serum alpha feto protein (a fetal liver protein), estriol (a pregnancy hormone), and human chorionic gonadotropin (hCG, a pregnancy hormone). This screen is done ...

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Down syndrome, Down syndrome - Overview, Down syndrome - History, Down syndrome - Genetics, Down syndrome - Prenatal Screening, Down syndrome - Education, Down syndrome - Medical research, Down syndrome - Down Syndrome's sociology, Down syndrome - Notable individuals, Down syndrome - Down syndrome in fiction, Down syndrome - Sources

Down syndrome, Down syndrome - Down Syndrome's sociology, Down syndrome - Down syndrome in fiction, Down syndrome - Education, Down syndrome - Genetics, Down syndrome - History, Down syndrome - Medical research, Down syndrome - Notable individuals, Down syndrome - Overview, Down syndrome - Prenatal Screening, Down syndrome - Sources

Down syndrome: Encyclopedia II - Down syndrome - Prenatal Screening



Down syndrome - Prenatal Screening

Pregnant women can be screened for various complications in their pregnancy. Some screens are designed to indicate neural tube defects (such as spina bifida), Trisomy 18, or Down syndrome, and other possible problems. There are two common non-invasive screens that can indicate an increased chance for a Down syndrome fetus.

  • Triple Screen. This test measures the maternal serum alpha feto protein (a fetal liver protein), estriol (a pregnancy hormone), and human chorionic gonadotropin (hCG, a pregnancy hormone). This screen is done at the 15th - 20th week. It can detect about 60% of Down syndrome pregnancies. However, it has a 6.5% Initial Positive Rate (IPR) for Down syndrome. Compare this to the 0.1% chance for Down syndrome birth. As with most screens, the chance of a false positive is great. The majority of women with a positive result will not have a Down syndrome birth.
  • AFP/Free Beta Screen. This test measures the alpha feto protein, produced by the fetus, and free beta hCG, produced by the placenta. It can be done somewhat earlier than the triple screen (13th to 22nd week). It has an IPR of 2.8% and a detection rate of about 80%. It is not as common as the triple screen.

Even with the best non-invasive screens, the detection rate is only 80% and the rate of false positive is nearly 3%. False positives can be caused by undetected multiple fetuses, incorrect date of pregnancy, or normal variation in the proteins.

Confirmation of the test is normally accomplished with amniocentesis. This is an invasive procedure and involves taking amniotic fluid from the mother and identifying fetal cells. The risk of spontaneous abortion is approximately 1 in 200 to 1 in 300. The lab work can take a couple of weeks. It will detect over 99.9% of all chromosomal problems, and has a very low false positive rate.

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Adapted from the Wikipedia article "Prenatal Screening", under the G.N U Free Docmentation License. Please also see http://en.wikipedia.org/wiki

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