PMID: 2894549Mar 19, 1988Paper

Fetal blood sampling in investigation of chromosome mosaicism in amniotic fluid cell culture

Lancet
C GosdenC H Rodeck

Abstract

41 pregnancies in which mosaicism had been found on amniotic fluid culture (AFC) were investigated by fetal blood and repeat AFC karyotyping. Results of both investigations, and the infants, were normal in 15 of 16 cases of autosomal trisomy (including trisomies 8, 9, 13, 18, and 21) and in the 8 cases of sex chromosome mosaicism. In 1 case of trisomy 20 mosaicism the fetal blood karyotype and the infant were normal but the repeat AFC showed mosaicism. Abnormality was confirmed in 5 of 11 cases of mosaicism for structural chromosomal rearrangements and in 4 of 6 cases with de-novo supernumerary marker mosaicism. These findings indicate the potential danger of terminating pregnancies because of trisomic mosaicism in AFC, and the importance of identifying the clinical significance of certain chromosome rearrangements which, even in mosaic form, might lead to severe mental and developmental handicap.

References

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Citations

Jan 1, 1993·Prenatal Diagnosis·J D LiouT L Yang-Feng
Jul 1, 1994·Prenatal Diagnosis·M SchneiderH Enders
Jan 1, 1994·International Journal of Technology Assessment in Health Care·L S Chitty, M Bobrow
Jul 17, 1998·The British Journal of Surgery·Y van der GraafB C Eikelboom
Mar 21, 1998·The British Journal of Surgery·A B Wilmink, C R Quick
Aug 26, 1998·The British Journal of Surgery·A P BollJ A van der Vliet
Jan 6, 1999·The British Journal of Surgery·K A VardulakiR A Scott
Feb 15, 2000·The British Journal of Surgery·K A VardulakiR A Scott
Jan 14, 1993·The New England Journal of Medicine·M E D'Alton, A H DeCherney
Jan 1, 1989·Journal of Perinatal Medicine·E ShalevS Mashiach
Jan 1, 1991·Journal of Perinatal Medicine·M PodobnikS Ciglar
Jul 19, 2002·Prenatal Diagnosis·Sirpa KivirikkoHarriet von Koskull
Mar 1, 1993·Prenatal Diagnosis·A GhidiniJ Willner
May 1, 1996·The Australian & New Zealand Journal of Obstetrics & Gynaecology·S FraserC Fraser
Apr 1, 1989·American Journal of Medical Genetics·M G WilsonF M Kaplan
Jul 8, 2005·American Journal of Medical Genetics. Part a·Natalia V Kovaleva
Jan 1, 1990·Critical Reviews in Clinical Laboratory Sciences·R A Sacher, S C Falchuk
Mar 4, 2017·Biomedicine Hub·Thomas LiehrAnja Weise
Dec 1, 2020·Prenatal Diagnosis·Simon Horsholt ThomsenIda Vogel

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