From genes to generations: genetic evaluation and counseling for infertility and pregnancy loss

IntroductionUnderstanding the genetics of reproductive disorders is key to improving diagnosis, treatment, and overall reproductive health. This study aimed to describe the characteristics, assessment, investigations, and recommendations in patients seeking genetic counseling for infertility and pregnancy loss.MethodsThis is a retrospective cross-sectional study that included couples who presented to the Genetic Disease Clinic, University Hospital, King Abdullah Medical City, Bahrain, with a chief complaint of infertility or pregnancy loss over 13 years from 2012 to 2024.ResultsOut of 912 patients who approached the clinic, 175 records (19.2%) belonged to couples (n = 350) who visited the clinic with infertility or pregnancy loss. Eighty couples (45.7%) were diagnosed with primary infertility, while 95 couples (54.3%) were diagnosed with secondary infertility. The mean marriage duration before visits was 7.7 ± 4.9 years. Meanwhile, 19 couples were identified as having advanced age in both partners (10.9%), 30 couples with advanced maternal age (17.1%), and 11 couples with advanced paternal age (6.3%). Additionally, couples with secondary infertility had an average of 1.6 pregnancies, with a mean of 1.4 early pregnancy losses. A male factor was identified in 30.3% of the couples (n = 53) and a combination of both male and female factors was reported in 52.0% (n = 91). Infertility and pregnancy loss were attributed to chromosomal aberrations solely in 27.4% of the couples (n = 48) and to monogenic carrier status in 14.3% of the couples (n = 25). Exome sequencing and gene panels were recommended and/or conducted in 49 couples (28%). In vitro fertilization and preimplantation genetic testing were recommended for couples with proven monogenic or chromosomal-related infertility.ConclusionA couple’s genetic profile significantly impacts fertility potential and outcomes. Genetic counseling, screening, and diagnostic testing enable timely and personalized interventions.