Non-invasive prenatal testing leading to a maternal diagnosis of Charcot–Marie–Tooth neuropathy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s10038-020-0789-8.pdf
Reference11 articles.
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2. Jenkins LA, Deans ZC, Lewis C, Allen S. Delivering an accredited non-invasive prenatal diagnosis service for monogenic disorders and recommendations for best practice. Prenat Diagn. 2018;38:44–51.
3. Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, et al. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019;25:439–47.
4. Stojkovic T. Hereditary neuropathies: an update. Rev Neurol (Paris). 2016;172:775–8.
5. Pescia G, Guex N, Iseli C, Brennan L, Osteras M, Xenarios I, et al. Cell-free DNA testing of an extended range of chromosomal anomalies: clinical experience with 6,388 consecutive cases. Genet Med. 2017;19:169–75.
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2. A Retrospective Cohort Analysis of the Genetic Assay Results of Foetuses with Isolated and Nonisolated Umbilical Cord Cyst;International Journal of General Medicine;2022-06
3. A false-positive result at non-invasive prenatal testing due to maternal 17p12 microduplication;Taiwanese Journal of Obstetrics and Gynecology;2022-05
4. Non-invasive Prenatal Testing, What Patients Do Not Learn, May Be Due to Lack of Specialist Genetic Training by Gynecologists and Obstetricians?;Frontiers in Genetics;2021-06-17
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