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Prenatal Diagnosis

Viewing Chromosomes, Less Invasive Methods, Preimplantation Genetic Diagnosis, Genetic Counseling And The Ethics Of Prenatal Diagnosis

The future health of a new individual can be predicted, to an extent, from clues that are apparent before birth. Prenatal diagnosis is the identification of a medical condition in a developing embryo or fetus. Prenatal testing can sample fetal cells to examine DNA sequences that correspond to specific disease-causing genes or chromosomes (the structures that carry the genes). Biochemicals obtained with the fetal cell samples can also hold clues to health. Other prenatal tests analyze a pregnant woman's blood serum for telltale biochemicals that indicate the fetus faces an elevated risk of a particular condition. Ultrasound scans provide views of many aspects of fetal anatomy. Preimplantation genetic diagnosis is a technique that is actually pre-prenatal. It provides a health check on very early embryos grown in a laboratory dish, enabling parents to select those that are most likely to develop into healthy infants.

Because prenatal tests that sample fetal cells are invasive, they carry a risk of the test causing miscarriage. Therefore, these procedures are typically offered only to those pregnant women whose risk of carrying a fetus with a detectable condition is greater than the risk of miscarriage. Reasons include already having had a child or family history with a detectable genetic or chromosomal condition, or "advanced maternal age." After age thirty-five, a woman's risk of carrying a fetus with an extra or missing chromosome exceeds the risk that the procedure will cause miscarriage.

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Medicine EncyclopediaGenetics in Medicine - Part 3