PubMed · 8754607
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M Mathai. 1996. Pre-eclampsia.. https://pubmed.ncbi.nlm.nih.gov/8754607/
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We report on a de novo constitutional rearrangement involving the long arm of chromosome 7 in a second trimester fetus with the karyotype of 46,XX, inv dup del (7)(pter-q36::q36-q21.2:) pat. Both a large duplication (q21.2-q36) and a small deletion (within q36) were confirmed by FISH studies. DNA analysis on the family showed that the abnormal chromosome was derived from a single paternal homolog. A mechanism is proposed in light of this finding. The phenotype at autopsy was consistent with reported cases of similar duplications in chromosome 7 in that hydrocephalus, a depressed nasal bridge, low set ears, microretrognathia and a short neck were present.
The ethical problems of prenatal diagnosis are outlined, with chief emphasis on the procedural level. On the procedural level this involves not only ethical structuring of the type of prenatal investigations on offer, i.e. acquisition of information and care of the patient, but also scientific investigation of the individual procedures and their effects on the fetus and pregnancy experience. Special attention is focused on the question of establishing legitimate indications for the use of prenatal diagnosis. Finally, as part of a discussion on human freedom, the fundamental problem of human selection according to criteria of genetic efficiency is briefly raised.
The objectives of the study were (1) to assess whether prenatal ultrasound examinations affected the prevalence of congenital anomalies at birth and the incidence of terminations of pregnancy for fetal anomalies and (2) to examine the detection rate of the main fetal anomalies. We studied all births and stillbirths with congenital defects, and all terminations of pregnancy for fetal anomalies in the Rambam Medical Center during a 5-year period (1989-1993) and correlated them to ultrasound findings. There were 23439 births during the study period. The incidence of newborns with anomalies decreased from 1.95 to 1.34 per cent (P < 0.01). The incidence of termination of pregnancy because of fetal anomalies increased from 0.35 to 0.83 per cent (P < 0.003) and the detection rate of malformations increased from 53.94 to 79.60 per cent (P < 0.001). It is concluded that terminations of pregnancy after ultrasound detection of fetal anomalies had an impact on the prevalence of anomalies in newborns. There was also continuing significant improvement in the detection rate of ultrasound examinations.