Abstract
Screening pregnancies for genetic disorders has become an integral part of antenatal care. Presently, a wide variety of prenatal screening tests in combination with ultrasound findings are offered in the first and second trimesters to evaluate the fetal risk for chromosomal anomalies. Chromosomes 13, 18, and 21 and sex chromosome aneuploidies are commonly evaluated based on their incidence and the possibility of live birth in fetuses carrying these aneuploidies. Prenatal screening tests can also be used to predict the risk of neural tube defects and preeclampsia. Due to the screening nature and limited sensitivity of biochemical testing, contingent testing with cell-free DNA-based noninvasive prenatal testing (NIPT) provides excellent detection of at-risk patients, with a sensitivity reaching up to 100% for trisomy 21. Standard guidelines, however, warrant care while interpreting reports of screening tests, and clinical decisions in high-risk cases are entirely based on invasive prenatal testing, which is the most accurate description of the genetic status of the fetus. Given the limitations of noninvasive prenatal screening tests, it is recommended that both noninvasive and invasive testing options be delivered to patients to help them make informed decisions. Invasive prenatal testing makes it possible to study a plethora of genetic conditions like aneuploidies, insertions, deletions, and mutations. Advancements in molecular diagnostic techniques has made it possible to deliver high-throughput data on a shorter timeline, allowing clinicians to make quick and informed decisions in the management of high-risk pregnancies.
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D’Souza, F.O., Singh, S. (2023). Prenatal Genetic Testing. In: Singh, R. (eds) Genetic Testing in Reproductive Medicine. Springer, Singapore. https://doi.org/10.1007/978-981-99-7028-5_12
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DOI: https://doi.org/10.1007/978-981-99-7028-5_12
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