PubMed · 11662944
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Roger L Shinn. 1974. Perilous progress in genetics.. https://pubmed.ncbi.nlm.nih.gov/11662944/
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Using prenatal tests to prevent the birth of babies with disabilities seems to be self-evidently good to many people. Even if the testing will not help bring a healthy baby to term this time, it gives prospective parents a chance to try again to conceive. To others, however, prenatal testing looks rather different. If one thinks about the history of our society's treatment of people with disabilities, it is not hard to see why people identified with the disability rights movement might regard such testing as dangerous. For the members of this movement, living with disabling traits need not be detrimental to an individual's prospects of leading a worthwhile life, or to the families in which they grow up, or to society at large. Although the movement has no one position on prenatal diagnosis, many of its adherents believe that public support for prenatal diagnosis and abortion based on disability contravenes the movement's basic philosophy and goals.
OBJECTIVE: To demonstrate that thorough antenatal and postnatal investigations are helpful in any genetic syndrome. CASE REPORT: A woman without a specific risk had a finding of hyperechogenic foci at ultrasound. Karyotype on fetal blood was 47, XY+21 and extensive biochemical investigation revealed abnormal liver function. Given the suspicion of a coincidental hepatic compromise, targeted postmortem examination was performed, which showed hepatic fibrosis, megakaryocytes proliferation and invasion of sinusoid capillaries, all suggestive of a transient myeloproliferative disorder. CONCLUSION: When compared with chorionic villous and amniotic fluid sampling, fetal blood allows the collection of additional data, which may help in understanding the pathological process behind an apparently serendipitous association.