The cerebro-hepato-renal (Zellweger) syndrome: Prenatal detection based on impaired biosynthesis of plasmalogens

Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome has been performed in 10 pregnancies at risk by measuring both the activity of acyl CoA: dihydroxyacetonephosphate acyltransferase (DHAP-AT) and the de novo plasmalogen biosynthesis, either in cultured amniotic fluid cells or in fibroblasts cultured from a chorionic villus biopsy. In 7 of the pregnancies both tests indicated no abnormality. All 7 continued to term and normal infants were delivered. However, in amniotic fluid cells from 2 fetuses affected by Zellweger syndrome unequivocal differences from control values were found. The activity of DHAP-AT was clearly deficient and the de novo plasmalogen biosynthesis was impaired. In one pregnancy at risk prenatal diagnosis was performed during the first trimester by measuring both the DHAP-AT activity and the de novo plasmalogen biosynthesis in fibroblasts cultured from a chorionic villi biopsy. From the deficient DHAP-AT activity and the impaired de novo plasmalogen biosynthesis it was concluded that the fetus was affected. This was confirmed biochemically after induced abortion. It can be concluded that measurement of the DHAP-AT activity and the de novo plasmalogen biosynthesis provides convenient methods for the early prenatal detection of Zellweger syndrome.     

Parental response to mid-trimester therapeutic abortion following amniocentesis

This article reports the results of a retrospective study designed to examine the responses of couples to genetic amniocentesis and subsequent therapeutic abortions due to birth defects. Fourteen women and 12 men were interviewed by experienced interviewers using a structured format designed by the authors, and each interview was audiotaped for later rating. The 5 raters (all women) were instructed to independently rate each interview using forms designed by the authors to elicit information about many aspects of the participant's individual responses as well as perceptions of spouse's responses to the process of pregnancy, amniocentesis, therapeutic abortion, and sequelae. Ratings of all 5 raters were conjoined and an homogeneous narrative was constructed for each interview. Results indicate, in general, that the respondent couples coped well with this experience. In fact 70 per cent of the respondent couples described their marital relationships as becoming closer as a result of their experience. Only a few participants reported long-term deleterious effects. Most couples coped by relying on relatives, friends, and occasionally, professional counsellors. In addition, most participants in this study suggested ways to improve the medical and psychological aspects of this experience.