Fortin Olivier, Mulkey Sarah B, Fraser Jamie L
Zickler Family Prenatal Pediatrics Institute, Children's National Hospital, Washington, DC, USA.
Department of Neurology and Rehabilitation Medicine, George Washington University School of Medicine and Health Sciences, Washington, DC, USA.
Pediatr Res. 2024 Jun 27. doi: 10.1038/s41390-024-03343-9.
Prenatal diagnoses of congenital malformations have increased significantly in recent years with use of high-resolution prenatal imaging. Despite more precise radiological diagnoses, discussions with expectant parents remain challenging because congenital malformations are associated with a wide spectrum of outcomes. Comprehensive prenatal genetic testing has become an essential tool that improves the accuracy of prognostication. Testing strategies include chromosomal microarray, exome sequencing, and genome sequencing. The diagnostic yield varies depending on the specific malformations, severity of the abnormalities, and multi-organ involvement. The utility of prenatal genetic diagnosis includes increased diagnostic clarity for clinicians and families, informed pregnancy decision-making, neonatal care planning, and reproductive planning. Turnaround time for results of comprehensive genetic testing remains a barrier, especially for parents that are decision-making, although this has improved over time. Uncertainty inherent to many genetic testing results is a challenge. Appropriate genetic counseling is essential for parents to understand the diagnosis and prognosis and to make informed decisions. Recent research has investigated the yield of exome or genome sequencing in structurally normal fetuses, both with non-invasive screening methods and invasive diagnostic testing; the prenatal diagnostic community must evaluate and analyze the significant ethical considerations associated with this practice prior to generalizing its use. IMPACT: Reviews available genetic testing options during the prenatal period in detail. Discusses the impact of prenatal genetic testing on care using case-based examples. Consolidates the current literature on the yield of genetic testing for prenatal diagnosis of congenital malformations.
近年来，随着高分辨率产前成像技术的应用，先天性畸形的产前诊断显著增加。尽管放射学诊断更加精确，但与准父母的讨论仍然具有挑战性，因为先天性畸形与广泛的结局相关。全面的产前基因检测已成为提高预后准确性的重要工具。检测策略包括染色体微阵列、外显子组测序和基因组测序。诊断率因具体畸形、异常严重程度和多器官受累情况而异。产前基因诊断的作用包括提高临床医生和家庭的诊断清晰度、进行知情的妊娠决策、新生儿护理规划和生殖规划。全面基因检测结果的周转时间仍然是一个障碍，特别是对于正在做决策的父母来说，尽管随着时间的推移这一情况有所改善。许多基因检测结果固有的不确定性是一个挑战。适当的遗传咨询对于父母理解诊断和预后并做出明智决策至关重要。最近的研究调查了在结构正常胎儿中使用非侵入性筛查方法和侵入性诊断检测进行外显子组或基因组测序的诊断率；产前诊断界在推广这种做法之前，必须评估和分析与此相关的重大伦理考量。影响：详细回顾产前期间可用的基因检测选项。通过基于案例的示例讨论产前基因检测对护理的影响。汇总关于先天性畸形产前诊断基因检测诊断率的当前文献。
