Optimal prenatal genetic diagnostic approach for posterior fossa malformation: karyotyping, copy number variant testing, or whole-exome sequencing?-Reference-Cited by-同舟云学术

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Optimal prenatal genetic diagnostic approach for posterior fossa malformation: karyotyping, copy number variant testing, or whole-exome sequencing?

Published:2024-07-31 Issue:1 Volume:29 Page:
ISSN:2047-783X
Container-title:European Journal of Medical Research
language:en
Short-container-title:Eur J Med Res

Author:

Juan Zhang,Cuixia Guo,Yuanjie Cui,Yan Liu,Ling Yao,Tiejuan Zhang,Li Wang,Jijing Han,Guohui Zhang,Yousheng Yan,Qingqing Wu,Lijuan Sun

Funder

National Natural Science Foundation of China

Beijing Natural Science Foundation

Beijing Municipal Science &Technology Commission

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1186/s40001-024-01993-3.pdf

Reference34 articles.

1. Shekdar K. Posterior fossa malformations. Semin Ultrasound CT MR. 2011;32:228–41.

2. Garg N, Kumar M, Rai P, Srivastava SS, Gupta A, Roy CS. Relative prevalence and outcome of fetal posterior fossa abnormality. J Paediatr Child Health. 2023;59:107–15.

3. Malinger G, Lev D, Lerman-Sagie T. The fetal cerebellum. Pitfalls in diagnosis and management. Prenat Diagn. 2009;29:372–80.

4. Miller E, Orman G, Huisman TAGM. Fetal MRI assessment of posterior fossa anomalies: a review. J Neuroimaging. 2021;31:620–40.

5. Hashiloni-Dolev Y, Nov-Klaiman T, Raz A. Pandora’s pregnancy: NIPT, CMA, and genome sequencing—a new era for prenatal genetic testing. Prenat Diagn. 2019;39:859–65.

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