Prenatal Screening

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Prenatal screening and testing is an important part of prenatal care. According to Bodurtha and Strauss (2012) there is a 3-4% risk of birth defects for all pregnancies. These defects can be caused by many factors including genetic mutations, maternal health and age, and exposure to environmental teratogens. There are many disorders that can arise from these factors, the severity of which varies greatly within each disorder.
Prenatal screening and testing provide insight into the health of the developing fetus. Screenings are performed when risk factors for abnormalities are identified and screen for aneuploidies (the presence of an abnormal number of chromosomes) such as Trisomy 13 (Patau Syndrome), Trisomy 18 (Edward’s Syndrome) and Trisomy …show more content…
Alexander S. Wiener and Dr. Karl Landsteiner (Bakalar, 2011). With continued research, Weiner discovered the connection between a mother’s Rh factor and severe, often fatal abnormalities in her newborn, a condition eventually known as Rhesus Disease. When a mother does not have Rh factor (Rh-negative) but her fetus does (Rh-positive) via the father, her body will develop antibodies against the fetus’s Rh-factor, leading to Rhesus Disease (Brown & Percy, 2007). Each subsequent pregnancy, the mother’s immune system gets stronger, increasing the severity of the disease for future children. This discovery led to testing of pregnant women for the presence of Rh factor. A medication was developed that would be given to all Rh-negative women to prevent Rhesus Disease. Created in 1968, RhoGAM is still the standard preventative treatment given to pregnant women who are …show more content…
While history shows some form of amniocentesis being performed as early as 1877, it was the discovery by Canadian anatomist Murray Lewellyn Barr in 1949 that amniocentesis could be used to determine the sex of the fetus that heralded its use for prenatal diagnoses (Kelley, 2010). In 1960, fetal cells in the amniotic fluid were used to diagnosis hemophilia and, in 1964, to diagnose muscular dystrophy. In 1966, breakthroughs in culturing fetal cells set the stage for chromosomal testing that would eventually diagnose chromosomal abnormalities. The introduction of the ultrasound to guide the needle in 1972 increased the safety of the procedure and reduced the risk of spontaneous abortion, although it was still limited to mothers deemed to be at high risk for birth defects due to maternal age or family history (Kelley,
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