AI Article Synopsis
- Approximately 10-15% of pregnancies end in a spontaneous miscarriage during the first trimester, often due to chromosomal issues like aneuploidies.
- Genetic analysis of miscarriage can involve methods like G-banding karyotyping and other molecular techniques, but their effectiveness is influenced by sample type and quality.
- The text emphasizes the importance of proper collection and preparation of chorionic villi from miscarriages, and addresses challenges such as maternal cell contamination and placental mosaicism for accurate genetic interpretation and counseling.
Article Abstract
Around 10-15% of pregnancies result in a spontaneous first trimester miscarriage, which is most frequently caused by chromosomal abnormalities, mainly aneuploidies. Genetic analysis of pregnancy loss includes conventional G-banding karyotyping and various molecular methods. Apart from variable methodological limitations, the effectiveness of genetic analysis depends on the type and quality of the tested sample. To improve the reliability of genetic testing, we present methods of appropriate collection and pre-laboratory preparation of chorionic villi from first trimester miscarriage. We also discuss issues of maternal cell contamination, placental mosaicism and reciprocal and Robertsonian translocations in the context of interpretation of the results and genetic counseling.
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| http://dx.doi.org/10.1111/jog.13179 | DOI Listing |
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