PMID- 33352697
OWN - NLM
STAT- MEDLINE
DCOM- 20210719
LR  - 20221207
IS  - 2073-4425 (Electronic)
IS  - 2073-4425 (Linking)
VI  - 11
IP  - 12
DP  - 2020 Dec 19
TI  - The Reproductive Journey in the Genomic Era: From Preconception to Childhood.
LID - 10.3390/genes11121521 [doi]
LID - 1521
AB  - 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".
FAU - Garcia-Herrero, Sandra
AU  - Garcia-Herrero S
AD  - IGENOMIX, Valencia, 46980 Paterna, Spain.
FAU - Simon, Blanca
AU  - Simon B
AUID- ORCID: 0000-0001-8022-7480
AD  - IGENOMIX, Valencia, 46980 Paterna, Spain.
FAU - Garcia-Planells, Javier
AU  - Garcia-Planells J
AUID- ORCID: 0000-0002-3224-2966
AD  - IGENOMIX, Valencia, 46980 Paterna, Spain.
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20201219
PL  - Switzerland
TA  - Genes (Basel)
JT  - Genes
JID - 101551097
SB  - IM
MH  - Congenital Abnormalities/epidemiology/*prevention & control
MH  - Consanguinity
MH  - Genetic Diseases, Inborn/epidemiology/*prevention & control
MH  - Genetic Testing/methods/*trends
MH  - *Genomics
MH  - High-Throughput Nucleotide Sequencing
MH  - Humans
MH  - Infant, Newborn
MH  - Infertility/epidemiology/therapy
MH  - Neonatal Screening/methods/trends
MH  - Perinatal Care/methods/trends
MH  - Precision Medicine/trends
MH  - Preconception Care/methods/trends
MH  - Preimplantation Diagnosis/methods/trends
MH  - Prenatal Diagnosis/methods/trends
MH  - Reproductive Techniques, Assisted/*trends
MH  - Exome Sequencing
PMC - PMC7767043
OTO - NOTNLM
OT  - genetic testing
OT  - next-generation sequencing
OT  - perinatal care
OT  - reproductive health
OT  - whole exome sequencing
COIS- Authors are employees of Igenomix. Authors declare no conflict of interest.
EDAT- 2020/12/24 06:00
MHDA- 2021/07/20 06:00
PMCR- 2020/12/19
CRDT- 2020/12/23 01:01
PHST- 2020/10/07 00:00 [received]
PHST- 2020/12/11 00:00 [revised]
PHST- 2020/12/14 00:00 [accepted]
PHST- 2020/12/23 01:01 [entrez]
PHST- 2020/12/24 06:00 [pubmed]
PHST- 2021/07/20 06:00 [medline]
PHST- 2020/12/19 00:00 [pmc-release]
AID - genes11121521 [pii]
AID - genes-11-01521 [pii]
AID - 10.3390/genes11121521 [doi]
PST - epublish
SO  - Genes (Basel). 2020 Dec 19;11(12):1521. doi: 10.3390/genes11121521.