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6. Birth Defects and Selective Abortion
Pages 103-114

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From page 103...
... With prenatal diagnosis, and the opportunity to terminate an affected pregnancy by means of a legal abortion, many women who would otherwise have refrained from becoming pregnant can be helped to bear healthy children. Abortion also can be used with or without prenatal diagnostic procedures in cases for which there is reasonable risk that the fetus is affected or malformed from non-genetic causes.
From page 104...
... , which can be used to diagnose gross anatomical deformities in the fetus, and to facilitate retrieval of fetal tissue, such as blood samples, for diagnosis of other genetic disorders, including sickle cell anemia.I/ Almost two thousand genetic defects have been catalogued. They occur either as chromosomal abnormalities, or as defects at more pinpointed gene locations.2/ Chromosomal abnormalities are estimated to occur about one in every 200 live births.
From page 105...
... * 88 for suspected chromosomal disorders including 49 for high maternal age, and the rest for other reasons.1^0/ In Edinburgh, 58 percent of 217 pregnancies monitored by prenatal diagnosis were suspected at risk of neural tube defects; only 36 percent were for chromosomal defects.ll/ More than six thousand pregnancies have been monitored in the United States and Canada by means of amniocentesis and prenatal diagnosis, most of them for suspected chromosomal disorders related to advanced maternal age.
From page 106...
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From page 107...
... pediatric services are due to genetic defects; of patients currently in institutions for the mentally retarded, five percent have inherited metabolic disorders, more than 10 percent have Down's Syndrome and 25 percent have central nervous system defects, many of which may be inherited.^5_/ Some of the disorders suffered by these children could now be detected with prenatal diagnosis. The financial outlays associated with the care of children with severe genetic disorders are in the millions of dollars.
From page 108...
... All of these sets of costs are known to be large, but there are no adequate data from which to develop accurate estimates of cumulative annual outlays over time.* Also, changes are taking place in the way that society treats mentally retarded individuals; many children who once might have ended up in institutions for the rest of their lives are being cared for today in their homes or day-care centers where they are much less of a financial burden to their families and to society as a whole.1^/ Shifting patterns of care make it difficult to develop cost estimates based on "average lifetime" costs of children disabled by genetic disorders.
From page 109...
... These include spontaneous abortions and vaginal bleeding followed by spontaneous abortion. Sixteen spontaneous abortions during this period were reported in MilunskyNs survey and two abortions occurred after vaginal bleeding .Z3_/ Kaback would also include premature birth as a possible short-term complication,^/ although Milunsky classified this as a late complication of the third trimester.
From page 110...
... had small linear scars, possibly from having been scratched by the amniocentesis needle.2^7_/ Although complications were minor, the complexity of the entire process from both a technical and social point of view led these authors to conclude "that prenatal diagnosis should be carried out only in centers where there are adequate facilities and trained personnel to handle the special techniques and gain the experience necessary to provide this service."28/ Recognizing that the evidence is still very preliminary, Kaback concludes that, "it is...too early to give an absolute answer to the overall risks but we can say that the serious complication rate of amniocentesis, at least the immediate or short-term frequency, is not greater than one percent," provided it is performed at medical centers with experience in the procedure.29/ Alternatives to Abortion At the present time there is a limited number of alternatives to selective abortion for couples faced with the prospect of a severely disabled child. A few metabolic diseases such as methylmalonic aciduria can be treated while the fetus is still in the uterus.30/ This disease can also be sucessfully treated with doses of Vitamin B-12 after birth,31f PKU and galactosemia are examples of diseases that can be treated with diet restrictions to limit the amount of mental retardation suffered by those children.
From page 111...
... Summary Recent developments in the techniques of amniocentesis and cell culture have made an increased number of genetic defects and other congenital disorders detectable in the second trimester of pregnancy. The possibility of prenatal genetic diagnosis with selective abortion may encourage families at risk of having a child with a severe genetic disorder to become pregnant with the likelihood that their child will not suffer from that disorder.
From page 112...
... Department of Health, Education, and Welfare, Public Health Service, National Institute of Child Health and Human Development. "Mental Retardation: The First Decade," (A Report prepared by the Mental Retardation Program for Presentation to the National Advisory Child Health and Human Development Councils, March 26, 1973)
From page 113...
... "Intrauterine Diagnosis of Genetic Defects: Results, Problems and Follow-up of One Hundred Cases in a Prenatal Genetic Detection Center," American Journal of Obstetrics and Gynecology 118: 902, April 1, 1974.
From page 114...
... "la Utero Treatment of Methyl Malonic Aciduria with Vitamin B-12," Pediatric Research 8: 387, 1974.


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