Prior-de Castro Carmen, Gómez-González Clara, Rodríguez-López Raquel, Macher Hada C
Servicio de Genética, Hospital Universitario La Paz, Madrid, Spain.
Laboratorio de Genética, Servicio Análisis Clínicos, Consorcio Hospital General Universitario, Valencia, Spain.
Adv Lab Med. 2023 Mar 24;4(1):28-51. doi: 10.1515/almed-2023-0024. eCollection 2023 Apr.
Prenatal genetic diagnosis of monogenic diseases is a process involving the use of a variety of molecular techniques for the molecular characterization of a potential monogenic disease in the fetus during pregnancy. Prenatal genetic diagnosis can be performed through invasive and non-invasive methods. A distinction must be made between "NIPD" (non-invasive prenatal diagnosis), which is considered to be diagnostic, from "NIPT" (non-invasive prenatal test), which is a screening test that requires subsequent confirmation by invasive methods. The different techniques currently available aim at detecting either, previously characterized pathogenic mutations in the family, the risk haplotype associated with the familial mutation, or potential pathogenic mutation(s) in a gene associated with a diagnostic suspicion. An overview is provided of relevant aspects of prenatal genetic diagnosis of monogenic diseases. The objective of this paper is to describe the main molecular techniques currently available and used in clinical practice. A description is provided of the indications, limitations and analytical recommendations regarding these techniques, and the standards governing genetic counseling. Continuous rapid advances in the clinical applications of genomics have provided increased access to comprehensive molecular characterization. Laboratories are struggling to keep in pace with technology developments.
单基因疾病的产前基因诊断是一个过程，涉及在孕期使用多种分子技术对胎儿潜在的单基因疾病进行分子特征分析。产前基因诊断可通过侵入性和非侵入性方法进行。必须区分被视为诊断性的“NIPD”（非侵入性产前诊断）和“NIPT”（非侵入性产前检测），后者是一种筛查检测，需要通过侵入性方法进行后续确认。目前可用的不同技术旨在检测家族中先前已鉴定的致病突变、与家族性突变相关的风险单倍型，或与诊断怀疑相关基因中的潜在致病突变。本文概述了单基因疾病产前基因诊断的相关方面。本文的目的是描述目前在临床实践中可用和使用的主要分子技术。文中描述了这些技术的适应症、局限性和分析建议，以及遗传咨询的规范标准。基因组学临床应用的持续快速发展使得获得全面分子特征分析的机会增加。实验室正努力跟上技术发展的步伐。
