Show Lofin Utah The diagnosis before birth Ittdty May 12 171 Hit NmM JowmI-- 19 HOOKER APPLIANCE SAYS (Third in a series) The genet By David Handin aadJou Marti The moat common method of (Hygnoaing genetic diaeaie in a baby before it ia born la a relatively simple medical procedure called amniocenteaia It ia not really a very new procedure having been used in a limited way since the 1930s when its primary value was in detecting possible Rh blood problems late ia pregnancy in women who had a different Rh blood factor than their husbands Today the average cost for amniocentesis and related laboratory work is between 125000 and $35000 Health Insurance often will cover these costs and if one needs these tests and cannot afford them the clinic involved frequently can make the necessary financial arrangements The amniocentesis procedure has evolved to one that allows physicians to spot safely and accurately about 100 different genetic diseases in the developing fetus including all of the major chromosomal disorders certain structural defects of the brain and spinal column and scores of biochemical disorders in which specific chemicals are either missing or present in excessive amounts which can impair the baby's development If the tests are positive for a particular disease the parents are so informed if they so choose they then can opt to have the pregnancy terminated by therapeutic abortion Thanka to this comparatively simple techique of diagnosing problems in the fetus before birth thousands of couples who would not otherwise have dared to risk another pregnancy under ordinary circumstances have now had one or more healthy children Milton and Dianne are a young couple from the Midwest who have a lovely daughter Judi “We never thought we would be so lucky” explained Dianne “Six years ago we had a little baby girl She wu so gorgeous when we first saw her We wanted children so much But she soon developed Tay Sachs disease and died before she was 3 years old After her death Milt and I went to a geneticist who did some blood tests and found out that both of us are carriers of Tay Sachs disease A lot of Jewish people are He told us chance that our children that there wu a would have the disease “Milt and I decided that the odds were really on our side So we did it We were so happy that day the doctor telephoned us to say that the baby would not one-in-fo- ur Students to take D have Tay Sachs disease" ' Amniocentesis Involves the removal of a small amount of the amniotic fluid from the womb The procedure is performed during the 15th to the 17th week after the last menstrual period and is most frequently done in the hospital on an basis The time frame fir this test is critical since it is only at about 15 weeks of pregnancy that it becomes possible to withdraw sufficient amniotic fluid from the womb The test is performed by the 17th week to allow plenty of time to perform a safe therapeutic abortion if a defective fetus is discovered This timing also allows for a second test if the cells do not grow tke first time First the physician locates the fetus and the placenta (which will later become the afterbirth hut is now the vital link between mother and fetus) This is done with special ultrasonic equipment that bounces sound waves off the fetus and produces a “sound-wav- e picture" of tt Once the location if the fetus and placenta are revealed and the doctor determines the safest place to insert the needle he may inject a small amount of local anesthetic into the mother's abdomen Soon after the injection the area becomes numb and the doctor then pierces it with a slender needle which he area surrounding carefully giddes into the fluid-fille- d the fetus This is cslled the amniotic sac It is filled with amniotic fluid which serves throughout the pregnancy to bathe the fetus and help insulate tt from the outside world Since the fetus has already been Boating in this fluid for nearly four months a number 4 the fetal cells have been sloughed off and are contained in it The doctors withdraws about 20 milliliters (roughly four teaspoonsfol) 'of yellowish amniotic fluid and carefully transfers it into sterile tubes These samples are then sent to the laboratory There they are spun in a large centrifuge which forces the fetal cells to the tubes' bottoms where they can easily be extracted in high concentrations These fetal cells are incubated in containers filled with nutrient solutions and antibiotics to encourage the cells to grow and reproduce When the original ceils have reproduced sufficiently in the tissue cultures scientists will have enough cells for testing It takes several weeks for the cells to grow and reproduce sufficiently Once the growth has been successfully completed special tests will determine whether thaw are any of the detectable biochemical defects present such as a which indicates the lack of the enzyme Hex-presence of Tay Sachs disease Another test called a karyotype will determine whether there 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