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The Reproductive Journey in the Genomic Era: From Preconception to Childhood

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...

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Autores principales: Garcia-Herrero, Sandra, Simon, Blanca, Garcia-Planells, Javier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767043/
https://www.ncbi.nlm.nih.gov/pubmed/33352697
http://dx.doi.org/10.3390/genes11121521
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author Garcia-Herrero, Sandra
Simon, Blanca
Garcia-Planells, Javier
author_facet Garcia-Herrero, Sandra
Simon, Blanca
Garcia-Planells, Javier
author_sort Garcia-Herrero, Sandra
collection PubMed
description 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”.
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spelling pubmed-77670432020-12-28 The Reproductive Journey in the Genomic Era: From Preconception to Childhood Garcia-Herrero, Sandra Simon, Blanca Garcia-Planells, Javier Genes (Basel) Review 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”. MDPI 2020-12-19 /pmc/articles/PMC7767043/ /pubmed/33352697 http://dx.doi.org/10.3390/genes11121521 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Garcia-Herrero, Sandra
Simon, Blanca
Garcia-Planells, Javier
The Reproductive Journey in the Genomic Era: From Preconception to Childhood
title The Reproductive Journey in the Genomic Era: From Preconception to Childhood
title_full The Reproductive Journey in the Genomic Era: From Preconception to Childhood
title_fullStr The Reproductive Journey in the Genomic Era: From Preconception to Childhood
title_full_unstemmed The Reproductive Journey in the Genomic Era: From Preconception to Childhood
title_short The Reproductive Journey in the Genomic Era: From Preconception to Childhood
title_sort reproductive journey in the genomic era: from preconception to childhood
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767043/
https://www.ncbi.nlm.nih.gov/pubmed/33352697
http://dx.doi.org/10.3390/genes11121521
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