American Journal of Medical Genetics · 1988 · 159 citations · 37 references
Life SciencesGeneticsObstetricsHuman GeneticsMedical GeneticsPrenatal DiagnosisAneuploidyChromosomal AbnormalitiesChromosomal DisordersGenetic DisordersPrenatal CytogeneticsPrenatal Genetic DiagnosisAutosomal AneuploidyFetal Chromosomal AbnormalitiesParental Decision-making About TestingPrenatal Chromosomal DiagnosisPrenatal Diagnosis Of Chromosomal DisordersSex Chromosome AbnormalitiesStructural Chromosomal RearrangementsStructural Chromosome Rearrangements
In the event of prenatal diagnosis of fetal chromosome abnormality, parents must choose between continuation and termination of the pregnancy. To determine whether parents are capable of understanding differences in severity among aneuploidy syndromes, we examined the outcome chosen for all pregnancies in which a fetal chromosome disorder was diagnosed at Northwestern Memorial Hospital between January, 1977 and June, 1986. Among amniocentesis cases, 88% with autosomal aneuploidy were terminated, but only 41% with sex chromosome abnormalities and none with de novo structural rearrangements were terminated. Among a smaller group of chorionic villus sampling cases, all with abnormal results were terminated. Similar patterns of parental behavior were noted in other prenatal diagnosis units. We conclude that parents do distinguish among, and respond specifically to, fetal chromosome disorders of differing severity, at least in the second trimester of pregnancy. However, parents appear more inclined to terminate all pregnancies with chromosome abnormalities when the diagnosis has been made in the first trimester.
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45,X/46,XY Mosaicism. Contrast of prenatal and postnatal diagnosis
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