IGENOMIX, Valencia, 46980 Paterna, Spain.
Genes (Basel). 2020 Dec 19;11(12):1521. doi: 10.3390/genes11121521.
It is estimated that around 10-15% of the population have problems achieving a pregnancy. Assisted reproduction techniques implemented and enforced by personalized genomic medicine have paved the way for millions of infertile patients to become parents. Nevertheless, having a baby is just the first challenge to overcome in the reproductive journey, the most important is to obtain a healthy baby free of any genetic condition that can be prevented. Prevention of congenital anomalies throughout the lifespan of the patient must be a global health priority. Congenital disorders can be defined as structural or functional anomalies that occur during intrauterine life and can be identified prenatally, at birth, or sometimes may only be detected later during childhood. It is considered a frequent group of disorders, affecting 3-6% of the population, and one of the leading causes of morbidity and mortality. Congenital anomalies can represent up to 30-50% of infant mortality in developed countries. Genetics plays a substantial role in the pathogenesis of congenital anomalies. This becomes especially important in some ethnic communities or populations where the incidence and levels of consanguinity are higher. The impact of genetic disorders during childhood is high, representing 20-30% of all infant deaths and 11.1% of pediatric hospital admissions. With these data, obtaining a precise genetic diagnosis is one of the main aspects of a preventive medicine approach in developed countries. The field of reproductive health has changed dramatically from traditional non-molecular visual microscope-based techniques (i.e., fluorescence in situ hybridization (FISH) or G-banding karyotype), to the latest molecular high-throughput techniques such as next-generation sequencing (NGS). Genome-wide technologies are applied along the different stages of the reproductive health lifecycle from preconception carrier screening and pre-implantation genetic testing, to prenatal and postnatal testing. The aim of this paper is to assess the new horizon opened by technologies such as next-generation sequencing (NGS), in new strategies, as a genomic precision diagnostic tool to understand the mechanisms underlying genetic conditions during the "reproductive journey".
据估计，大约有 10-15%的人口在妊娠方面存在问题。个性化基因组医学实施和强制执行的辅助生殖技术为数百万不孕患者成为父母铺平了道路。然而，拥有一个孩子只是生殖之旅中要克服的第一个挑战，最重要的是获得一个没有任何遗传疾病的健康婴儿，这些疾病是可以预防的。预防患者一生中的先天性异常必须成为全球健康的优先事项。先天性疾病可以定义为在宫内生命期间发生的结构或功能异常，可以在产前、出生时或有时仅在儿童期后期检测到。它被认为是一种常见的疾病群体，影响 3-6%的人口，是发病率和死亡率的主要原因之一。先天性异常在发达国家可能占婴儿死亡人数的 30-50%。遗传学在先天性异常的发病机制中起着重要作用。在一些少数民族社区或人群中，这种作用尤为重要，这些人群的发病率和近亲结婚率更高。遗传疾病在儿童期的影响很大，占所有婴儿死亡的 20-30%，占儿科住院的 11.1%。有了这些数据，获得精确的基因诊断是发达国家预防医学方法的主要方面之一。生殖健康领域已经从传统的非分子基于显微镜的技术（例如荧光原位杂交（FISH）或 G 带核型）发生了巨大变化，发展到最新的分子高通量技术，如下一代测序（NGS）。基因组技术应用于生殖健康生命周期的不同阶段，从孕前携带者筛查和胚胎植入前基因检测，到产前和产后检测。本文的目的是评估下一代测序（NGS）等技术开辟的新局面，作为基因组精确诊断工具，以了解“生殖之旅”中遗传疾病背后的机制。
