Mozaiková forma trizómie 2 u potrateného plodu

Mosaic Form of Trisomy 2 in a Miscarriage

From 1657 specimens of analyzed aborted foetuses during 1992 - 1998, in 7 of 999 successfully cultivatedspecimens (0.7%) trisomy of chromosome 2 was detected. In one of 7 cases it was the mosaic form. The authorspresent a case - report of a 34-year old woman with indicated amniocentesis because of high serum alpha-foeto-protein levels. In spite of the normal karyotype of the foetus revealed by PGD, pregnancy was terminated becauseof the high amniotic fluid alpha-foetoprotein levels and developmental defects detec ted by ultrasound. Autopsyrevealed thoracogastroschisis with protrusion of viscera and ectopia cordis, aplasia of the left diaphragm, agenesisof the left kidney, uterus unicornis with hypoplasia of the left adnexum, meningomyelocele in the sacral area,hypoplasia of the left lower extremity and a short umbilical cord with aplasia of one of umbilical arteries. Thepost-mortem chromosomal analysis of the cultivated embryonal fibroblasts revealed a mosaic with two cell lines46,XX/47,XX,+2 (78% : 22%).The objective of the paper was to report a rare cytogenetic finding in a severely malformed foetus and to stressthe necessity of post-mortem verification of the karyotype established on cultivated amniocytes in all cases of foetalmalformations.

Key words:
miscarriage, mosaic form of chromosome 2 trisomy, developmental defects