Genetic Screening and Early Recurrent Pregnancy Loss

• Published in: Current obstetrics and gynecology reports 2017-06, Vol.6 (2), p.163-168
• Main Author: Brezina, Paul R.
• Format: Article
• Language: English
• Subjects: Maternal and Child Health; Medicine; Medicine & Public Health; Obstetrics/Perinatology/Midwifery; Oncology; Reproductive Endocrinology and Infertility (REI) (R Anchan; Section Editor; Topical Collection on Reproductive Endocrinology and Infertility (REI)
• ISSN: 2161-3303; 2161-3303
• DOI: 10.1007/s13669-017-0207-1

Purpose of Review The purpose of this review is to identify current data and provide a clear treatment path specifically the role of preimplantation genetic screening (PGS) for the evaluation and treatment of recurrent early pregnancy loss (RPL). Recent Findings Recent data within the causes of RPL have established that the role of genetics, specifically chromosomal aneuploidy, is far more significant as a cause of the disorder than has been traditionally believed. Current data suggests that at least 50% of all first trimester losses are a result of such chromosomal copy number errors. Furthermore, therapeutic techniques, such as Preimplantation Genetic Screening (PGS) are now available to reduce the chances of aneuploidy in appropriately selected couples with RPL. Summary Recurrent early pregnancy loss (RPL) represents a significant challenge for many couples wishing to grow their family. The clinical management of RPL is challenging given the multiple causes of pregnancy loss. The past several decades have seen tremendous advances in the understanding of and treatment for this heterogeneous disorder. Thankfully, a definite cause of pregnancy loss can be established in over half of couples after a thorough evaluation. The evaluation of RPL may be conducted in a structured manner, focusing on a defined set of etiological categories including anatomic, genetic, immunologic, endocrinologic, infectious, and environmental.