Causes of preterm birth: Genetic factors in preterm birth and preterm infant phenotypes

• Published in: The journal of obstetrics and gynaecology research Vol. 49; no. 3; pp. 781 - 793
• Main Authors: Dauengauer‐Kirlienė, Svetlana, Domarkienė, Ingrida, Pilypienė, Ingrida, Žukauskaitė, Gabrielė, Kučinskas, Vaidutis, Matulevičienė, Aušra
• Format: Journal Article
• Language: English
• Published: Kyoto, Japan John Wiley & Sons Australia, Ltd 01-03-2023; Wiley Subscription Services, Inc
• Subjects: Attention deficit hyperactivity disorder; Autism; de novo variants; Environmental factors; epi; Female; Fetuses; Genetic diversity; Genetic factors; genome; Genomes; Humans; Hyperactivity; Immune response; Infant; Infant, Newborn; Infant, Newborn, Diseases; Infant, Premature; Infertility; Labor, Obstetric; Molecular modelling; Neonates; Phenotype; Phenotypes; Pregnancy; Premature birth; Premature Birth - genetics; preterm neonate; Rehabilitation; Transcription factors; transcriptome; Transcriptomes; Transcriptomics; de novo variants; genome; preterm neonate; premature birth; transcriptome; epi
• ISSN: 1341-8076; 1447-0756
• DOI: 10.1111/jog.15516

Aim
The aim is to provide an overview of recent research on genetic factors that influence preterm birth in the context of neonatal phenotypic assessment.
Methods
This is a nonsystematic review of the recent scientific literature.
Results
Maternal and fetal genetic diversity and rare genome variants are linked with crucial immune response sites. In addition, more frequent in preterm neonates, de novo variants may lead to attention deficits, hyperactivity, autism spectrum disorders, and infertility of both sexes later in life. Environmental factors may also greatly burden fetal, and consequently, neonatal development and neurodevelopment through a failure in the fetal epigenome reprogramming process and even influence the initiation of spontaneous preterm pregnancy termination. Minimally invasive analysis of the transcription factors associated with preterm birth helps elucidate labor mechanisms and predict its timing. We also provide valuable summaries of genomic and transcriptomic factors that contribute to preterm birth.
Conclusions
Investigation of the human genome, epigenome, and transcriptome helps to identify molecular mechanisms linked with preterm delivery and premature newborn clinical appearance in early and late neonatal life and even predict developmental outcomes. Further studies are needed to fully understand the implications of genetic changes in preterm births. These data could be used to develop targeted interventions aimed at selecting the most effective individual treatment and rehabilitation plan.