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Prenatal Treatment of Genetic Disorders

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What happens when a genetic or chromosomal abnormality is found? Advances in genetics and in medicine have led to therapies that can be administered prenatally to reduce the effects of many genetic abnormalities. Fetoscopy is a technique that uses a small camera, inserted through a small incision on the mother’s abdomen or cervix and placed into the amniotic sac that encases the fetus, to examine and perform procedures on the fetus during pregnancy. Risks of fetoscopy include infection, rupture of the amniotic sac, premature labor, and fetal death. However, when serious abnormalities are suspected, fetoscopy permits a visual assessment of the fetus, which aids in diagnosis and treatment. Hormones and other drugs, as well as blood transfusions, can be given to the fetus by inserting a needle into the uterus (Fox & Saade, 2012; Lindenburg, van Kamp, & Oepkes, 2014). Surgeons rely on the images provided by fetoscopy to surgically repair defects of the heart, lung, urinary tract, and other areas (Deprest et al., 2010; P. Sala et al., 2014).

In addition, researchers believe that one day, we may be able to treat many heritable disorders thorough genetic engineering by synthesizing normal genes to replace defective ones. It may someday be possible to sample cells from an embryo, detect harmful genes and replace them with healthy ones, and then return the healthy cells to the embryo where they reproduce and correct the genetic defect (Coutelle & Waddington, 2012). This approach has been used to correct certain heritable disorders in animals and holds promise for treating humans.

Infants and Children in Context

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