Genetic Insights Into Early Pregnancy Loss: A Case Study of Trisomy 22 and an Enlarged Yolk Sac.

ABSTRACT

The first trimester of pregnancy is crucial for organ development but also carries a high risk of complications, with early pregnancy loss being the most common. Anomalies in the yolk sac, the first extra-embryonic structure seen by ultrasonography, can indicate severe fetal growth abnormalities and are linked to higher rates of first-trimester loss. This case report details a 38-year-old woman with a history of recurrent pregnancy loss (RPL) who presented with per vaginal bleeding and mild abdominal pain. Transvaginal ultrasonography revealed a yolk sac larger than 10 mm, prompting further genetic investigation. Chromosomal microarray analysis confirmed Trisomy 22. The presence of an enlarged yolk sac, correlated with Trisomy 22, highlights the importance of early detection through sonography and genetic testing. This approach aids in managing RPL by identifying genetic causes, thereby informing pre-conception counseling and future pregnancy management. An abnormal yolk sac size necessitates thorough evaluation, including cytogenetic microarray testing and quantitative fluorescent-polymerase chain reaction analysis, to guide clinical decisions and improve pregnancy outcomes.