Prenatal next-generation sequencing in the fetus with congenital malformations: how can we improve clinical utility?
Author:
Publisher
Elsevier BV
Subject
General Medicine,Obstetrics and Gynecology
Reference46 articles.
1. Official statistics: NCARDRS congenital anomaly statistics report, 2020. GOV.UK. 2022. Available at: https://www.gov.uk/government/statistics/ncardrs-congenital-anomaly-statistics-report-2020. Accessed on 22nd March 2023.
2. Joint Position Statement from the International Society for Prenatal Diagnosis (ISPD), the Society for Maternal Fetal Medicine (SMFM), and the Perinatal Quality Foundation (PQF) on the use of genome-wide sequencing for fetal diagnosis;Prenat Diagn,2018
3. The role of next-generation sequencing in the investigation of ultrasound-identified fetal structural anomalies;Kilby;BJOG,2021
4. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study;Lord;Lancet,2019
5. Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study;Petrovski;Lancet,2019
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2. Incremental yield of whole‐genome sequencing over chromosomal microarray analysis and exome sequencing for congenital anomalies in prenatal period and infancy: systematic review and meta‐analysis;Ultrasound in Obstetrics & Gynecology;2024-01
3. Enhancement of phenotyping for fetal investigation using next‐generation sequencing;Ultrasound in Obstetrics & Gynecology;2023-10
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