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Indexed/Abstracted in: EMBASE, PubMed/MEDLINE, Scopus, Emerging Sources Citation Index
Online ISSN 1827-1650
Carta G., Iovenitti P., D'Alfonso A., Mascaretti G., Moscarini M.
Background. Over the past few years numerous techniques have been developed, allowing an evaluation of fetal physiopathology that was unthinkable until recently. The authors describe 20 cases of fetal malformations and chromosomal abnormalities diagnosed by scan and amniocentesis at the Centre for Diagnosis and Obstetric Prophylaxis at L'Aquila University.
Methods. Between January 1995 and April 1998 a total of 1180 amniocentesis and 4000 obstetric scans were performed in a group of 1650 pregnant women.
Results. Of the patients examined using ultrasound scan, 8 presented manifest fetal pathologies, of which 5 were associated with chromosome abnormalities: 1) left ventricular hypoplasia, common atrium, tricuspid dysplasia; 2) omphalocele; 3) Morgagni-Stewart-Morel syndrome; 4) plurilobate cystic hygroma; 5) duodenal atresia; 6) Dandy-Walker syndrome; 7) cystic hygroma and hydrops; 8) cystic hygroma, hydrops, cardiopathy and Dandy-Walker syndrome. Among the pregnant women undergoing amniocentesis without a prior diagnosis of fetal malformation, 12 presented pathological fetal karyotypes: 2 cases of Turner's syndrome; 2 cases of Edward's syndrome; 2 cases of Klinefelter's syndrome, of deletion of a stretch of chromosome 8; 1 case of Down's syndrome; 2 cases of supernumerary marker chromosome; 1 twin pregnancy with Klinefel-ter's syndrome in one twin and paracentric inversion of chromosome 13 in the other; 1 twin pregnancy with a small supernumerary marker chromosome in both twins.
Conclusions. Ultrasonography often enables the diagnosis of congenital abnormalities not associated with chromosome pathologies. However, karyotype studies play an essential role in pregnancies with a high genetic risk.