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胎儿先天性畸形的产前下一代测序：如何提高临床实用性？

Prenatal next-generation sequencing in the fetus with congenital malformations: how can we improve clinical utility?

机构信息

Fetal Medicine Centre, Birmingham Women's & Children's Foundation Trust, Birmingham, United Kingdom (Dr Kilby); Fetal Medicine Centre, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom (Dr Kilby); Illumina, Cambridge, United Kingdom (Dr Kilby).

All Wales Medical Genomics Service, University Hospital of Wales, Cardiff, United Kingdom (Dr Morgan).

出版信息

Am J Obstet Gynecol MFM. 2023 May;5(5):100923. doi: 10.1016/j.ajogmf.2023.100923. Epub 2023 Mar 9.

DOI:10.1016/j.ajogmf.2023.100923
PMID:36905983
Abstract

Fetal malformations have a variable prognosis that may be influenced by the detection of an underlying monogenic etiology. The careful detection and selection of fetal phenotypes and the use of prenatal next-generation sequencing with robust bioinformatic pathways and variant selection have improved the clinical utility and impact of genetic testing.

摘要

胎儿畸形的预后存在差异，可能受到潜在单基因病因检测的影响。通过仔细检测和选择胎儿表型，并使用具有强大生物信息学途径和变异选择的产前下一代测序，提高了基因检测的临床实用性和影响。

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引用本文的文献

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Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomalies.三联体全外显子测序在超声检查异常胎儿中的临床应用
Hum Genomics. 2025 Apr 5;19(1):37. doi: 10.1186/s40246-025-00745-6.
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Going Back in Time: Prenatal Presentations of Postnatal Genetic Diagnoses Made in a Neonatal Intensive Care Unit.时光回溯：新生儿重症监护病房中产后基因诊断的产前表现
Prenat Diagn. 2024 Dec 5. doi: 10.1002/pd.6710.