O'Brien Maggie, Whyte Sinead, Doyle Sam, McAuliffe Fionnuala M
UCD Perinatal Research Centre, University College Dublin, National Maternity Hospital, Dublin, Ireland.
The Department of Perinatal Genetics, National Maternity Hospital, Dublin, Ireland.
Best Pract Res Clin Obstet Gynaecol. 2024 Dec;97:102546. doi: 10.1016/j.bpobgyn.2024.102546. Epub 2024 Sep 3.
The role of genetic testing within maternal medicine is expanding. Advancing technology and the increasing availability of genetic testing have seen more patients receiving a genetic diagnosis than ever before. Improved healthcare and understanding of these rare diseases means that many patients are living well into their reproductive years and starting families. Individual diseases are considered by their patterns of inheritance i.e. autosomal recessive, autosomal dominant and chromosomal diseases. This chapter specifically addresses the following examples and outlines an approach to pre-conceptual and pregnancy management; autosomal recessive (cystic fibrosis, phenylketonuria), autosomal dominant (osteogenesis imperfecta, vascular Ehlers-Danlos syndrome) and chromosomal (Turner syndrome). For many rare and ultrarare genetic diseases, there may be no clear guidelines or consensus on the correct management in pregnancy. This chapter seeks to provide a framework for the clinician to use to address the unique needs and risk profile of these patients in pregnancy and pre-conceptually and plan accordingly. The role of pharmacogenetics in maternal medicine, the future of education in genetics for patients and clinicians and the important role of genetic counselling are all considered in this chapter. This overview highlights the important role of genetics in maternal medicine and how this can inform management and planning for the safe care of mother and baby.
基因检测在母胎医学中的作用正在不断扩大。随着技术的进步以及基因检测的日益普及，如今接受基因诊断的患者比以往任何时候都多。医疗保健水平的提高以及对这些罕见疾病认识的加深，意味着许多患者能够健康地度过生育年龄并组建家庭。个体疾病可根据其遗传模式进行分类，即常染色体隐性遗传、常染色体显性遗传和染色体疾病。本章将特别探讨以下实例，并概述孕前及孕期管理方法：常染色体隐性遗传疾病（囊性纤维化、苯丙酮尿症）、常染色体显性遗传疾病（成骨不全症、血管型埃勒斯-当洛综合征）以及染色体疾病（特纳综合征）。对于许多罕见和超罕见的基因疾病，孕期的正确管理可能没有明确的指南或共识。本章旨在为临床医生提供一个框架，以便在孕期及孕前应对这些患者的独特需求和风险状况，并据此制定相应计划。本章还将探讨药物遗传学在母胎医学中的作用、患者及临床医生遗传学教育的未来发展，以及遗传咨询的重要作用。这一概述突出了遗传学在母胎医学中的重要作用，以及它如何为母婴安全护理的管理和规划提供依据。
