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Prenatal Testing

Prenatal DNA testing and more

Prenatal testing collectively refers to the series of tests and examinations a pregnant woman will undergo throughout the course of her pregnancy. Many of these tests are routine, such as ultrasounds to retrieve visual evidence of how the baby is developing, or blood work to ensure that the mother's nutritional levels are adequate and that her blood type will not cause complications.

Other procedures, such as prenatal genetic testing, are recommended by a health care professional based on the mother's age, medical history, and ethnic and family background. Still others, such as paternity testing, are requested by patients.

Prenatal Genetic Testing for Medical Conditions

Genetic testing during pregnancy can screen for and identify the presence of chromosomal abnormalities in the growing fetus. Some of the most common types of prenatal genetic testing are:

  • Amniocentesis. Prenatal testing for Down syndrome and other chromosomal abnormalities, and for neural tube defects such as spina bifida. Between weeks 14 and 24, a sample of amniotic fluid is retrieved via a needle through the mother's abdominal wall.
  • Chorionic Villus Sampling (CVS). Tests for chromosomal conditions and genetic diseases, where a risk has been indicated. Between weeks 10 and 12, a sample of the placenta is taken, either through the abdominal wall or through the vagina.
  • Nuchal Translucency (NT) Screening. Identifies the approximate risk for Down syndrome through an ultrasound of the fold of skin at the back of the fetus's neck. Non-invasive but only about 80 percent accurate and is often followed up with a diagnostic test (amniocentesis or CVS).

Prenatal Paternity Testing

In cases where there is a question regarding the identity of the father of an unborn child, it is possible to conclusively prove paternity through prenatal DNA testing. The test is 99.99 percent accurate and therefore extremely dependable. Traditionally, a prenatal paternity test will consist of either retrieving an amniotic fluid sample through amniocentesis, or retrieving a placenta sample through CVS.

Recently, however, there has been an increase in the popularity of non-invasive prenatal paternity tests, which require only a DNA sample from the prospective father and a blood sample from the mother -- but there still seems to be some debate as to whether the accuracy level of this test is comparable to the more invasive prenatal paternity tests.

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