Clinical molecular genetics evaluation in women with reproductive failures

Abstract

Molecular diagnostics is a rapidly growing branch of the clinical laboratory and has accelerated the advance of personalized medicine in the fields of pharmacogenomics, pharmacogenetics, and nutrigenomics. The versatility of molecular biology allows it to be effective in several medical fields that include reproduction, immunogenetics and virology. Implementation of molecular and sequencing technology in reproductive medicine can add another layer of understanding to better define the causes behind infertility and recurrent reproductive loss. In the following we examine current molecular methods for probing factors behind reproductive pregnancy loss including reverse transcription PCR (RT‐PCR), and Next Generation Sequencing (NGS). We review several current and potential genetic (DNA) and transcriptional (RNA) based parameters in women with infertility that can be significant in diagnosis and treatment. These molecular factors can be inferred either from genomic DNA, or RNA locally within the endometrium. Furthermore, we consider infection‐based abnormalities such as Human Herpes Virus‐6 (HHV‐6), and Severe acute respiratory syndrome coronavirus‐2 (SARS CoV‐2). Finally, we present future directions as well as data demonstrating the potential role of Human Endogenous Retroviruses (HERV) in pregnancy loss. We hope these discussions will assist the clinician in delineating some of the intricate molecular factors that can contribute to infertility and recurrent reproductive failures.