Recurrent Pregnancy Loss (RPL)
Recurrent pregnancy loss is defined as the loss of two or more pregnancies, and it affects around 1–2% of couples. Genetic analysis of products of conception (fetal tissue) can be performed for explanatory purposes. Parental karyotyping may help to rule out balanced translocations which increase the risk for recurrent pregnancy loss.
Genetic causes of recurrent pregnancy losses include (ACOG Practice bulletin, 2002):
- Structural chromosomal abnormalities
- Molecular genetic abnormalities
- Recurrent embryonic chromosomal abnormalities (mostly due to AMA)
- Maternal metabolic disorders
- Thrombophilia
Tests Available As:
- Karyotyping for POC by NGS
- Chromosomal Microarray
- ORION (Whole Exome Sequencing)