Chromosomal Analysis (POC)
Fetal loss is one of the most common complications of pregnancy, affecting approximately 25–30% of recognized pregnancies. Losses occurring before 20 weeks of gestation involve fetal and placental tissues, referred to as Products of Conception (POC), while losses after 20 weeks are classified as Intrauterine Fetal Demise (IUFD).
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The leading cause of early pregnancy loss is chromosomal abnormalities in the fetus, responsible for 50–60% of first-trimester losses. In IUFDs, chromosomal abnormalities are less common, occurring in about 20% of cases. Genetic testing through chromosomal analysis of POC or IUFD tissue can help determine the underlying cause of pregnancy loss. This information can guide the management of future pregnancies, including the use of Assisted Reproductive Techniques and Comprehensive Chromosomal Screening (CCS) to reduce the risk of recurrent miscarriage.
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Who should consider chromosomal analysis of POC or IUFD?
- Couples who have experienced two or more miscarriages, whether from natural conception or assisted reproductive techniques (ART)
- Cases requiring confirmation of abnormal prenatal test results
- When malformations are evident in the aborted fetus
- Couples who want to assess the risk of miscarriage recurrence
For the past three decades, chromosomal analysis of POCs and IUFDs has primarily been performed using karyotyping. However, in 22–55% of cases, karyotyping fails to provide results due to limitations in cell culture.
A more advanced alternative is Microarray Analysis, which does not require cell culture and can provide results in approximately 95% of cases. Microarray Analysis can be performed on fresh POC tissue or on samples unsuitable for karyotyping, such as formalin-fixed, paraffin-embedded (FFPE) tissue.