ArticleAmerican journal of medical genetics. Part C, Seminars in medical genetics2019
Turner syndrome: New insights from prenatal genomics and transcriptomics.
Article in American journal of medical genetics. Part C, Seminars in medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Prenatal Cell-Free DNA Screening With Fetal Enrichment Enables Sampling From 8 Weeks of Gestational Age.Clinical genetics · 2026Article
- Global burden and between-country inequalities in Turner syndrome from 1990 to 2021.Acta obstetricia et gynecologica Scandinavica · 2025Article
- Case Report: Recurrent acute myocardial infarction in a young woman-the importance of identifying the uncommon underlying causes.Frontiers in cardiovascular medicine · 2025Article
- Assessing the impact of sequencing platforms and analytical pipelines on whole-exome sequencing.Frontiers in genetics · 2024Article
- "Overestimated technology - underestimated consequences" - reflections on risks, ethical conflicts, and social disparities in the handling of non-invasive prenatal tests (NIPTs).Medicine, health care, and philosophy · 2023Review
- Cell-free DNA screening positive for monosomy X: clinical evaluation and management of suspected maternal or fetal Turner syndrome.American journal of obstetrics and gynecology · 2022Article
- A Review of Recent Developments in Turner Syndrome Research.Journal of cardiovascular development and disease · 2021Review
- Cell-free fetal DNA coming in all sizes and shapes.Prenatal diagnosis · 2021Review
- Review
- Omics Approaches to Study Formation and Function of Human Placental Syncytiotrophoblast.Frontiers in cell and developmental biology · 2021Review
- Most noninvasive prenatal screens failing due to inadequate fetal cell free DNA are negative for trisomy when repeated.Prenatal diagnosis · 2020Article
- Turner syndrome in diverse populations.American journal of medical genetics. Part A · 2020Article
- Turner syndrome: mechanisms and management.Nature reviews. Endocrinology · 2019Review
- Clinical developmental, neuropsychological, and social-emotional features of Turner syndrome.American journal of medical genetics. Part C, Seminars in medical genetics · 2019Review
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1 author.
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Abstract
In some parts of the world, prenatal screening using analysis of circulating cell-free (cf) DNA in the plasma of pregnant women has become part of routine prenatal care with limited professional guidelines and without significant input from the Turner syndrome community. In contrast to the very high positive predictive values (PPVs) achieved with cfDNA analysis for trisomy 21 (91% for high-risk and 82% for low-risk cases), the PPVs for monosomy X are much lower (~26%). This is because the maternal plasma sample contains both maternal cfDNA and placental DNA, which is a proxy for the fetal genome. Underlying biological mechanisms for false positive monosomy X screening results include confined placental mosaicism, co-twin demise, and maternal mosaicism. Somatic loss of a single X chromosome in the mother is a natural phenomenon that occurs with aging; this could explain many of the false positive cfDNA results. There is also increased awareness of women who have constitutional mosaicism for 45, X who are fertile. It is important to recognize that a positive cfDNA screen for 45, X does not mean that the fetus has Turner syndrome. A follow-up diagnostic test, either amniocentesis or neonatal karyotype/chromosome microarray, is recommended. Research studies on cell-free mRNA in second trimester amniotic fluid, which is almost exclusively fetal, demonstrate consistent dysregulation of genes involved in the hematologic, immune, and neurologic systems. This suggests that some of the pathophysiology of Turner syndrome occurs early in fetal life and presents novel opportunities for consideration of antenatal treatments.
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