What is the genetic cause of sporadic and recurrent pregnancy loss? Does the frequency and nature of chromosomal abnormalities play a role? Types and frequency of all identifiable chromosomal abnormalities were determined to inform our understanding, medical management and recurrence risk for patients experiencing pregnancy loss.
Large spectrum of genomic imbalances cause sporadic and recurrent pregnancy loss.
About 15–20% of clinically recognized pregnancies result in a miscarriage.
Recurrent pregnancy loss (RPL), defined as two or more miscarriages, affects up to 5% of all couples (Practice Committee of the American Society for Reproductive Medicine, 2012).
It is recognized that chromosome abnormalities account for at least 50% of sporadic and recurrent first-trimester losses
Chromosome abnormalities are observed less frequently in stillbirth, at roughly 10% of cases. Evaluation of products of conception (POC) for all types of chromosomal abnormalities can identify causes that inform future pregnancy management and recurrence risk estimation
Patients harbouring balanced or submicroscopic chromosomal rearrangements that cannot be detected by classical karyotype analysis are susceptible to recurrent pregnancy losses…..
For individuals who have experienced RPL, excluding chromosomal abnormalities as the cause, allows their healthcare providers to search for other causes that may involve endocrine, haematologic, immunological, anatomic or other abnormalities