The current state of prenatal detection of genetic conditions in congenital heart defects.
The current state of prenatal detection of genetic conditions in congenital heart defects.
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DOI：
10.21037/tp-20-315
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发表时间：
2021-08
影响因子：
2
通讯作者：
Northrup H
中科院分区：
文献类型：
--
作者：
Findley TO;Northrup H
在过去的五十年中，先天性心脏病（CHD）的发病率有所增加，部分原因是产科护理期间通过超声检查进行的常规胎儿解剖检查以及超声技术和技术的改进。除了母体生物标志物之外，胎儿超声检查结果是妊娠早期和中期筛查常见遗传病（即非整倍体）的支柱。自从采用新一代测序技术对胎儿游离 DNA 进行测序的无创产前检测 (NIPT) 以来，常见三体性和性染色体非整倍体的检出率显着提高。随着 NIPT 的使用不断扩大，由于临床医生和家庭对 NIPT 的局限性和非诊断作用的误解，将 NIPT 纳入产前护理的最佳方法不太明确且复杂。在产前基因检测的其他进展中，关于染色体微阵列 (CMA) 在产前诊断中的作用的建议导致其越来越多地用于识别诊断患有先心病的胎儿的遗传状况。最后，随着全外显子组测序（WES）变得更加容易获得和负担得起，下一代测序在产前诊断测试中的下一个临床应用即将到来。虽然较新的基因测试可能会在基因诊断方面提供答案，但临床医生、研究人员和家长可能会面临更多问题。本综述的目的是在基因技术进步及其对家庭和临床医生的影响的背景下，提供孕产妇和胎儿产科护理演变的视角。
The incidence of congenital heart defect (CHD) has increased over the past fifty years, partly attributed to routine fetal anatomical examination by sonography during obstetric care and improvements in ultrasound technology and technique. Fetal findings on ultrasound in addition to maternal biomarkers are the backbone of first- and second-trimester screening for common genetic conditions, namely aneuploidy. Since the introduction of non-invasive prenatal testing (NIPT) using next-generation sequencing to sequence cell-free fetal DNA, the detection rate of common trisomies as well as sex chromosomal aneuploidies have markedly increased. As the use of NIPT continues to broaden, the best means of incorporating NIPT into prenatal care is less clear and complicated by misunderstanding of the limitations and non-diagnostic role of NIPT by clinicians and families. In other advancements in prenatal genetic testing, recommendations on the role of chromosomal microarray (CMA) for prenatal diagnosis has led to its increasing use to identify genetic conditions in fetuses diagnosed with CHD. Lastly, as whole exome sequencing (WES) becomes more available and affordable, the next clinical application of next-generation sequencing in prenatal diagnostic testing is on the horizon. While newer genetic tests may provide answers in terms of genetic diagnosis, even more questions will likely ensue for clinicians, researchers, and parents. The objective of this review is to provide the perspective of the evolution of maternal and fetal obstetric care against the backdrop of advancing genetic technology and its impact on families and clinicians.