Advancements in molecular genetic testing methods have significantly enhanced our ability to detect genetic abnormalities during pregnancy. This review delves into the landscape of prenatal diagnostic tests for congenital malformations and genetic disorders, considering the evolving field of molecular genetics. Exhaustive searches on PubMed, Web of Science, Science Direct, Cochrane Library, and Google Scholar were conducted, employing the Rayyan QRCI throughout the meticulous process.Prenatal genetic testing is instrumental for various reasons, and its applications extend to the evaluation of fetal genital abnormalities. State-of-the-art tests, such as noninvasive prenatal testing, genome sequencing, and cell-free DNA screening, have emerged as key players in prenatal diagnostics. These techniques offer a comprehensive approach to identifying congenital abnormalities during the prenatal period. By utilizing noninvasive prenatal testing, genome sequencing, and cell-free DNA screening, healthcare professionals can effectively screen for malformations before birth.This proactive approach not only enhances early detection but also significantly reduces the unnecessary financial and psychological burdens on families. The ability to diagnose congenital abnormalities during pregnancy allows for informed decision-making and better preparation for potential challenges that may arise after birth. As molecular genetic testing continues to advance and gain prominence in clinical settings, the landscape of prenatal diagnostics is poised for further improvement and refinement, promising a brighter and more informed future for expectant families.
Key words: Congenital malformations, abnormal, diagnosis, prenatal, pregnancy, genetic, disorders.
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