University of Alabama at Birmingham Heersink School of Medicine.
Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Curr Opin Pediatr. 2022 Dec 1;34(6):553-558. doi: 10.1097/MOP.0000000000001174. Epub 2022 Sep 9.
Prenatal genetic testing can be divided into two categories: screening and diagnosis. Prenatal genetic screening tests are used to assess carrier status or as a fetal risk assessment for a particular genetic disorder [1]. Prenatal genetic diagnostic testing is used to diagnose particular genetic conditions with as much certainty as possible [1,2]. This review will focus on the diagnostic side of prenatal genetic testing.
Next generation sequencing (NGS) has revolutionized prenatal genetic diagnostic testing. NGS methods are becoming more advanced and accurate as more genetic information is being linked to genetic conditions.
Prenatal genetic diagnostic testing involves clinicians invasively obtaining tissue via amniocentesis or chorionic villus sampling to identify if a fetus has a genetic condition. This testing has traditionally been done through fluorescence in-situ hybridization, karyotype, or chromosomal microarray analysis. However, genetic testing is in a time of rapid technologic expansion and new methods like NGS, which includes targeted gene panels, whole exome sequencing, and whole genome sequencing are being used too. In this time of growth, it is important that providers educate themselves on the research support and indication behind each type of genetic diagnostic test.
产前基因检测可分为两类：筛查和诊断。产前基因筛查用于评估携带状态或胎儿特定遗传疾病的风险[1]。产前基因诊断检测用于尽可能明确地诊断特定的遗传疾病[1,2]。本综述将重点介绍产前基因检测的诊断方面。
下一代测序（NGS）彻底改变了产前基因诊断检测。随着越来越多的遗传信息与遗传疾病相关联，NGS 方法变得越来越先进和准确。
产前基因诊断检测涉及临床医生通过羊膜穿刺术或绒毛膜活检术获取组织，以确定胎儿是否患有遗传疾病。这种检测传统上是通过荧光原位杂交、核型分析或染色体微阵列分析进行的。然而，基因检测正处于快速技术扩展的时期，新的方法如 NGS，包括靶向基因面板、外显子组测序和全基因组测序也在被使用。在这个快速发展的时期，临床医生了解每种基因诊断检测的研究支持和适应证非常重要。
