Postnatal outcomes of prenatally diagnosed 45,X/46,XX
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.
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In the absence of ultrasound anomalies, fetuses with mosaic TS diagnosed prenatally as an incidental finding are expected to have a milder phenotype than the ones ascertained postnatally.
“In the absence of ultrasound anomalies, fetuses with mosaic TS diagnosed prenatally as an incidental finding are expected to have a milder phenotype than the ones ascertained postnatally.56-58”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [58]
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Clinical practice guidelines for the care of girls and women with Turner syndrome.
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- Authors
- Tokita, M. J., & Sybert, V. P.
- Affiliations
- University of Washington (US)
- Group Health Cooperative (US)
- Corresponding author
- Tokita, Mari J.
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2016-01-20
- Volume
- 170
- Issue
- 5
- Pages
- 1196-1201
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W2259923852
- Cited by
- 58
- References
- 15
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 2 · 2023: 1 · 2022: 4 · 2021: 2 · 2020: 1 · 2019: 2 · 2018: 35 · 2017: 5 · 2016: 2 · 2015: 1
- FWCI
- 11.85
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Medical Genetics Postdoctoral Fellowship (5T32 GM007454)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Keywords
- Turner syndrome, 45,X/46,XX mosaicism, prenatal diagnosis, postnatal outcome, phenotypes, genetic counseling, prenatal counseling, renal defects, secondary sexual development, growth
- MeSH terms
- Adolescent, Adult, Aneuploidy, Child, Child, Preschool, Female, Genetic Counseling, Humans, Infant, Karyotyping, Male, Mosaicism, Pregnancy, Pregnancy Outcome, Prenatal Diagnosis, Sex Chromosomes, Turner Syndrome
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