Postnatal outcomes of prenatally diagnosed 45,X/46,XX

American Journal of Medical Genetics. Part a
Mari J Tokita, Virginia P Sybert

Abstract

High quality information is critical for informed decision-making in pregnancy following a prenatal diagnosis of sex chromosome aneuploidy. The goal of this study was to define the spectrum of outcomes in patients with prenatally diagnosed 45,X/46,XX mosaic Turner syndrome in order to provide a better basis for genetic counseling at the time of intrauterine diagnosis. Phenotype data for twenty-five patients with prenatally diagnosed 45,X/46,XX mosaicism were collected by retrospective chart review and, when possible, semi-structured telephone interview. Existing data from a cohort of 58 patients with postnatally diagnosed 45,X/46,XX mosaicism were used for comparison. Relative to those diagnosed postnatally, prenatal patients were more likely to have normal growth and normal secondary sexual development, less likely to manifest distinctive Turner syndrome features such as nuchal webbing and edema, and had significantly fewer renal defects. These differences underscore the need for a nuanced approach to prenatal counseling in cases of 45,X/46,XX mosaicism.

References

Mar 21, 2002·Clinical Genetics·N H BirkebaekG Bruun-Petersen
Jul 2, 2004·Obstetrics and Gynecology·Gábor MezeiZoltán Papp
Sep 17, 2004·The New England Journal of Medicine·Virginia P Sybert, Elizabeth McCauley
Mar 27, 2007·Clinical Endocrinology·Mostafa El-MansouryKerstin Landin-Wilhelmsen
Dec 23, 2011·ISRN Obstetrics and Gynecology·J J P M PietersA P T Smits

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Citations

Dec 20, 2017·European Journal of Pediatrics·Yasmine OuarezkiMalcolm D C Donaldson
Aug 17, 2019·American Journal of Medical Genetics. Part a·Angela E LinClaus H Gravholt
Nov 22, 2016·Journal of Neuroscience Research·Frida PrintzlauDavid H Skuse
Dec 24, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Siddharth K PrakashAngela E Lin
Sep 6, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Marcus A TukeAnna Murray
Dec 24, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Marcus A TukeAnna Murray
Jul 15, 2017·European Journal of Endocrinology·Claus H GravholtUNKNOWN International Turner Syndrome Consensus Group

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