Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis-Reference-Cited by-同舟云学术

Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis

Published:2024-03-15 Issue:7 Volume:32 Page:759-769
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Marchionni Enrica^ORCID,Guadagnolo Daniele,Mastromoro Gioia,Pizzuti Antonio

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s41431-024-01590-2.pdf

Reference38 articles.

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2. Liu P, Vossaert L. Emerging technologies for prenatal diagnosis: the application of whole genome and RNA sequencing. Prenat Diagn. 2022;42:686–96. https://doi.org/10.1002/pd.6146.

3. Manickam K, McClain MR, Demmer LA, Biswas S, Kearney HM, Malinowski J, et al. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23:2029–37. https://doi.org/10.1038/s41436-021-01242-6.

4. Guadagnolo D, Mastromoro G, Di Palma F, Pizzuti A, Marchionni E. Prenatal exome sequencing: background, current practice and future perspectives-a systematic review. Diagnostics. 2021;11:224. https://doi.org/10.3390/diagnostics11020224.

5. Van den Veyver IB, Chandler N, Wilkins-Haug LE, Wapner RJ, Chitty LS, ISPD Board of Directors. International Society for Prenatal Diagnosis Updated Position Statement on the use of genome-wide sequencing for prenatal diagnosis. Prenat Diagn. 2022;42:796–803. https://doi.org/10.1002/pd.6157.

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