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Review Article
Online Published: 08 Dec 2023
 


Prenatal Diagnosis for Congenital Malformations and Genetic Disorders

Elsadig Eltahir Khalid Shiekedien, Kinan Tariq J. Aljohani, Reham Maher M. Alsaidalani, Nouf Mohsen Alatiyyat, Ghadeer Saud O. Almarwani, Raghad Abbas M. Alali, Shumukh Saleem S. Aljohani, Hadeel Mousa D. Albalawi, Abdulrhman Jaber S. Aljohani.


Abstract
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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How to Cite this Article
Pubmed Style

Shiekedien EEK, Aljohani KTJ, Alsaidalani RMM, Alatiyyat NM, Almarwani GSO, Alali RAM, Aljohani SSS, Albalawi HMD, Aljohani AJS. Prenatal Diagnosis for Congenital Malformations and Genetic Disorders. IJMDC. 2024; 8(1): 297-304. doi:10.24911/IJMDC.51-1695196042

Web Style

Shiekedien EEK, Aljohani KTJ, Alsaidalani RMM, Alatiyyat NM, Almarwani GSO, Alali RAM, Aljohani SSS, Albalawi HMD, Aljohani AJS. Prenatal Diagnosis for Congenital Malformations and Genetic Disorders. https://www.ijmdc.com/?mno=170149 [Access: October 14, 2025]. doi:10.24911/IJMDC.51-1695196042

AMA (American Medical Association) Style

Shiekedien EEK, Aljohani KTJ, Alsaidalani RMM, Alatiyyat NM, Almarwani GSO, Alali RAM, Aljohani SSS, Albalawi HMD, Aljohani AJS. Prenatal Diagnosis for Congenital Malformations and Genetic Disorders. IJMDC. 2024; 8(1): 297-304. doi:10.24911/IJMDC.51-1695196042


Vancouver/ICMJE Style

Shiekedien EEK, Aljohani KTJ, Alsaidalani RMM, Alatiyyat NM, Almarwani GSO, Alali RAM, Aljohani SSS, Albalawi HMD, Aljohani AJS. Prenatal Diagnosis for Congenital Malformations and Genetic Disorders. IJMDC. (2024), [cited October 14, 2025]; 8(1): 297-304. doi:10.24911/IJMDC.51-1695196042


Harvard Style

Shiekedien, E. E. K., Aljohani, . K. T. J., Alsaidalani, . R. M. M., Alatiyyat, . N. M., Almarwani, . G. S. O., Alali, . R. A. M., Aljohani, . S. S. S., Albalawi, . H. M. D. & Aljohani, . A. J. S. (2024) Prenatal Diagnosis for Congenital Malformations and Genetic Disorders. IJMDC, 8 (1), 297-304. doi:10.24911/IJMDC.51-1695196042


Turabian Style

Shiekedien, Elsadig Eltahir Khalid, Kinan Tariq J. Aljohani, Reham Maher M. Alsaidalani, Nouf Mohsen Alatiyyat, Ghadeer Saud O. Almarwani, Raghad Abbas M. Alali, Shumukh Saleem S. Aljohani, Hadeel Mousa D. Albalawi, and Abdulrhman Jaber S. Aljohani. 2024. Prenatal Diagnosis for Congenital Malformations and Genetic Disorders. International Journal of Medicine in Developing Countries, 8 (1), 297-304. doi:10.24911/IJMDC.51-1695196042


Chicago Style

Shiekedien, Elsadig Eltahir Khalid, Kinan Tariq J. Aljohani, Reham Maher M. Alsaidalani, Nouf Mohsen Alatiyyat, Ghadeer Saud O. Almarwani, Raghad Abbas M. Alali, Shumukh Saleem S. Aljohani, Hadeel Mousa D. Albalawi, and Abdulrhman Jaber S. Aljohani. "Prenatal Diagnosis for Congenital Malformations and Genetic Disorders." International Journal of Medicine in Developing Countries 8 (2024), 297-304. doi:10.24911/IJMDC.51-1695196042


MLA (The Modern Language Association) Style

Shiekedien, Elsadig Eltahir Khalid, Kinan Tariq J. Aljohani, Reham Maher M. Alsaidalani, Nouf Mohsen Alatiyyat, Ghadeer Saud O. Almarwani, Raghad Abbas M. Alali, Shumukh Saleem S. Aljohani, Hadeel Mousa D. Albalawi, and Abdulrhman Jaber S. Aljohani. "Prenatal Diagnosis for Congenital Malformations and Genetic Disorders." International Journal of Medicine in Developing Countries 8.1 (2024), 297-304. Print. doi:10.24911/IJMDC.51-1695196042


APA (American Psychological Association) Style

Shiekedien, E. E. K., Aljohani, . K. T. J., Alsaidalani, . R. M. M., Alatiyyat, . N. M., Almarwani, . G. S. O., Alali, . R. A. M., Aljohani, . S. S. S., Albalawi, . H. M. D. & Aljohani, . A. J. S. (2024) Prenatal Diagnosis for Congenital Malformations and Genetic Disorders. International Journal of Medicine in Developing Countries, 8 (1), 297-304. doi:10.24911/IJMDC.51-1695196042




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