Abstract
Human pregnancy is a surprisingly inefficient process; approximately 5–10% of clinically recognized pregnancies end in miscarriages. Approximately 2–5% of RPL cases are due to a genetic abnormality in the fetus or the parents. RPL couples are often advised to visit reproductive experts to ascertain the cause of their repeated losses. Several techniques are used to detect the genetic defects, including karyotyping, fluorescence in situ hybridization (FISH), array comparative genomic hybridization (aCGH), single-nucleotide polymorphism (SNP) microarrays, and next-generation sequencing (NGS). The choice of technique varies depending on whether fetal tissue or the parents are being tested. This chapter focuses on the methods used for genetic testing in RPL cases. Limited and focused genetic testing is recommended by the European Society of Human Reproduction and Embryology (ESHRE) for RPL couples as a part of the diagnosis or for explanatory purposes.
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Verma, P. (2023). Genetic Testing in Recurrent Pregnancy Loss. In: Singh, R. (eds) Genetic Testing in Reproductive Medicine. Springer, Singapore. https://doi.org/10.1007/978-981-99-7028-5_13
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DOI: https://doi.org/10.1007/978-981-99-7028-5_13
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