- and prenatal genetic testing in also on the upswing.With more women having babies in their mid-to-late 30s--and even in their early 40s--prenatal testing and screening becomes more important. For those in whom the tests indicate a problem, however, tough decisions have to be made. Genetic testing Genetic Testing Definition A genetic test examines the genetic information contained inside a person's cells, called DNA, to determine if that person has or will develop a certain disease or could pass a disease to his or her offspring. involves the simple and virtually painless procedure of amniocentesis--inserting a needle through the abdominal wall into the uterus to withdraw a small amount of amniotic fluid amniotic fluid n. The fluid within the amnion that surrounds the fetus and protects it from injury. Amniotic fluid The liquid that surrounds the baby within the amniotic sac. . Chromosomal patterns of cells in the fetus. Abnormal chromosomes can thus be detected and an accurate diagnosis of the problem made. The risk of miscarriage in doing amniocentesis amniocentesis (ăm'nēō'sĕntē`sĭs), diagnostic procedure in which a sample of the amniotic fluid surrounding a fetus is removed from the uterus by means of a fine needle inserted through the abdomen of the pregnant woman (see varies with the institution in which it is done, ranging from one in 200 to one in 300. At age 30, one in 952 pregnancies will produce a Down syndrome Down syndrome, congenital disorder characterized by mild to severe mental retardation, slow physical development, and characteristic physical features. Down syndrome affects about 1 in every 730 live births and occurs in all populations equally. baby. At age 35, the risk is one in 378, and at 40, one in 106. The medical profession is thus in agreement that genetic testing should be done on all pregnant women 35 years of age and older. Dr. David B. Weaver, director of clinical services in the department of medical genetics medical genetics n. The study of the etiology, pathogenesis, and natural history of diseases and disorders that are at least partially genetic in origin. of the Indiana University School of Medicine The Indiana University School of Medicine is the medical school of Indiana University, part of the Indiana University Purdue University at Indianapolis (IUPUI) campus located in Indianapolis, Indiana. Established in 1903, the school had an initial class of 25 students. , sees three current trends in prenatal diagnosis. First, the number of conditions for which testing is available is rapidly increasing--about 800 different conditions at present, compared to 600 three or four years ago. Second, more prenatal screening is being done with other kinds of tests that may indicate risk but do not give a diagnosis. Third, doctors can now do things to deal with genetic problems before the baby is born that were unthinkable not long ago--such as opening the uterus surgically, operating on the fetus, and letting the pregnancy go on to term. |
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