Current knowledge of prenatal diagnosis of mosaic autosomal trisomy in amniocytes: karyotype/phenotype correlations

Prenatal Diagnosis
Robert WallersteinMatthew J Garabedian

Abstract

Genetic counseling for prenatal diagnosis of autosomal trisomy is complex because of the uncertainty of outcome, which is important for management decisions. Compilation of cases of prenatally diagnosed autosomal trisomies in amniocytes has been done previously in an attempt to elucidate the clinical phenotype of these pregnancies. It has been greater than a decade since these studies were completed. To update this work, we reviewed cases reported in the literature since that time. These cases are correlated with the prior reports to increase knowledge about outcomes and to hopefully improve the data available for genetic counseling. The risk of abnormal outcome can be summarized as: very high risk (>60%) for 47,+2/46; 47,+9/46; 47,+16/46; 47,+20/46; and 47,+22/46; high risk (40-59%) for 47,+5/46; 47,+14/46; and 47,+15/46; moderately high risk (20-39%) for 47,+7/46 47,+12/46; and 47,+17/46; moderate risk (up to 19%) for 47,+6/46 and 47,+8/46, and none were low risk. 47,+6/46 was originally indeterminate, 47,+7/46 was originally moderate risk, 47,+9/46 was originally high risk, and 47,+17/46 was originally low risk.

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Citations

Jan 29, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Zirui DongZhengfeng Xu
Jul 1, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Graziano PesciaBernard Conrad
Jul 2, 2020·Fetal and Pediatric Pathology·Paola BonasoniMaria Marinelli
Jul 4, 2020·American Journal of Medical Genetics. Part a·Sietse M AukemaWilhelmina S Kerstjens-Frederikse
Feb 24, 2021·Current Opinion in Obstetrics & Gynecology·Kelly ChenAllison Boyd
Mar 25, 2021·American Journal of Medical Genetics. Part a·Xiaolin HuLoren Pena
May 9, 2021·Reproductive Biomedicine Online·Kun-Long HuangKuo-Chung Lan

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