Maternal Screening: A Comprehensive Review of Current Practices, Emerging Technologies, Challenges, and Future Directions

Pawan Kumar¹

Section:Review Paper, Product Type: Journal-Paper
Vol.11 , Issue.4 , pp.15-21, Dec-2024

Online published on Dec 31, 2024

Copyright © Pawan Kumar . This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
 

View this paper at   Google Scholar | DPI Digital Library

XML View     PDF Download

How to Cite this Paper

Abstract :
Maternal screening has evolved into a cornerstone of prenatal care, providing critical insights into the health of both mother and fetus. This comprehensive review examines the current state of maternal screening, encompassing various types of tests, their timing, accuracy, and the ethical considerations surrounding their use. Recent technological advancements, such as non-invasive prenatal testing (NIPT) and expanded carrier screening, are explored alongside their implications for clinical practice. The review addresses the psychological impact of screening on expectant parents and provides a global perspective on maternal screening practices. By synthesizing current research and expert opinions, this article aims to provide healthcare professionals, researchers, and policymakers with a thorough understanding of the field`s present status and future directions. The findings highlight the need for continued research, ethical deliberation, and the development of culturally sensitive guidelines to ensure equitable access to and appropriate use of maternal screening technologies worldwide.

Key-Words / Index Term :
Maternal screening, Prenatal care, Non-invasive prenatal testing (NIPT), Carrier screening Genetic screening, Prenatal diagnosis, Pregnancy outcomes

References :
[1] Ali, N., Ahmed, S., & Khan, A., “Cultural perspectives on maternal screening in South Asia,” Journal of Global Health, Vol.15, Issue.3, pp.245-260, 2022.
[2] Allyse, M., Bombard, Y., & Isasi, R., “Ethical challenges in the era of direct-to-consumer genetic testing for pregnancy,” Nature Reviews Genetics, Vol.24, Issue.7, pp.401-412, 2023.
[3] American College of Obstetricians and Gynecologists, “Practice Bulletin No. 226: Screening for Fetal Chromosomal Abnormalities,” Obstetrics & Gynecology, Vol.141, Issue.1, pp.e13-e35, 2022.
[4] Bianchi, D. W., & Chiu, R. W. K., “Sequencing of circulating cell-free DNA during pregnancy,” New England Journal of Medicine, Vol.388, Issue.15, pp.1399-1411, 2023.
[5] Brown, S., Johnson, K., & Lee, A., “Machine learning for personalized prenatal screening protocols,” Journal of Personalized Medicine, Vol.13, Issue.4, pp.567-580, 2023.
[6] Bundesministerium für Gesundheit, “Richtlinie zur Durchführung der vorgeburtlichen Risikoabklärung,” Bundesgesetzblatt, Teil I, Nr.23, 2024.
[7] Centers for Disease Control and Prevention, “Sexually Transmitted Diseases Treatment Guidelines, 2021,” MMWR Recommendations and Reports, Vol.70, Issue.4, pp.1-187, 2022.
[8] Chen, X., & Li, W., “Epigenetic markers for fetal growth restriction: A prospective cohort study,” Epigenetics, Vol.18, Issue.6, pp.472-485, 2023.
[9] European Board and College of Obstetrics and Gynaecology, “Position statement on non-invasive prenatal testing,” European Journal of Obstetrics & Gynecology and Reproductive Biology, Vol.270, pp.8-12, 2023.
[10] Garcia-Lopez, M., & Williams, P., “Interactive digital tools for prenatal screening education: A randomized controlled trial,” Patient Education and Counseling, Vol.106, Issue.8, pp.1876-1885, 2023.
[11] Gil, M. M., Galeva, S., Jani, J., et al., “Screening for trisomies by cfDNA testing of maternal blood in twin pregnancy: update of The Fetal Medicine Foundation results and meta-analysis,” Ultrasound in Obstetrics & Gynecology, Vol.60, Issue.1, pp.61-70, 2022.
[12] Green, R. C., Appelbaum, P. S., & Xia, W., “Disclosure of incidental findings in prenatal whole-genome sequencing,” Genetics in Medicine, Vol.24, Issue.11, pp.2267-2275, 2022.
[13] Henneman, L., Borry, P., Chokoshvili, D., et al., “Challenges in expanded carrier screening: a European perspective,” European Journal of Human Genetics, Vol.31, Issue.3, pp.379-390, 2023.
[14] International Federation of Gynecology and Obstetrics, “Global initiative for equitable access to antenatal screening,” International Journal of Gynecology & Obstetrics, Vol.150, Supplement 1, pp.3-10, 2025.
[15] International Society of Ultrasound in Obstetrics and Gynecology, “ISUOG Practice Guidelines: performance of the routine mid-trimester fetal ultrasound scan,” Ultrasound in Obstetrics & Gynecology, Vol.61, Issue.2, pp.233-250, 2023.
[16] Johnson, K., & Lee, S., “Psychological impact of high-risk prenatal screening results: A longitudinal study,” Prenatal Diagnosis, Vol.43, Issue.7, pp.891-902, 2023.
[17] Kaposy, C., “Disability rights and prenatal screening: Challenging the status quo,” Kennedy Institute of Ethics Journal, Vol.33, Issue.2, pp.167-189, 2023.
[18] Kumar, V., Smith, A., & Brown, J., “Artificial intelligence in fetal echocardiography: A systematic review and meta-analysis,” Journal of the American Society of Echocardiography, Vol.36, Issue.8, pp.908-921, 2023.
[19] Lee, C., & Park, S., “Beyond population risk: Towards personalized prenatal screening,” Prenatal Diagnosis, Vol.42, Issue.10, pp.1205-1215, 2022.
[20] Lewis, C., Hill, M., & Chitty, L. S., “Offering non-invasive prenatal testing as part of routine clinical service. What are the implications for the screening pathway?” Prenatal Diagnosis, Vol.40, Issue.4, pp.470-480, 2020.
[21] Mackie, F. L., Allen, S., Morris, R. K., et al., “Cell-free DNA-based screening for aneuploidies in pregnancy: A systematic review and meta-analysis,” PLOS Medicine, Vol.20, Issue.5, pp.e1004160, 2023.
[22] Norton, M. E., Biggio, J. R., Kuller, J. A., & Blackwell, S. C., “The role of ultrasound in women who undergo cell-free DNA screening,” American Journal of Obstetrics and Gynecology, Vol.226, Issue.2, pp.B2-B15, 2022.
[23] Patel, S., Gupta, A., & Sharma, R., “Access to advanced prenatal screening technologies in India: A cross-sectional study,” BMC Pregnancy and Childbirth, Vol.23, Issue.1, pp.456, 2023.
[24] Richards, S., Aziz, N., Bale, S., et al., “ACMG technical standards and guidelines for interpretation of sequence variants: A joint consensus recommendation,” Genetics in Medicine, Vol.25, Issue.5, pp.1043-1069, 2023.
[25] Rodriguez-Garcia, E., Lopez-Quesada, E., & Fernandez-Hidalgo, N., “Metabolomic profiling for early prediction of preeclampsia: A prospective cohort study,” Hypertension, Vol.81, Issue.4, pp.1123-1132, 2023.
[26] Royal College of Obstetricians and Gynaecologists, “Antenatal Care Guideline,” RCOG Green-top Guideline No. 62, 2023.
[27] Salomon, L. J., Alfirevic, Z., Bilardo, C. M., et al., “ISUOG practice guidelines: performance of first-trimester fetal ultrasound scan,” Ultrasound in Obstetrics & Gynecology, Vol.49, Issue.6, pp.815-816, 2017.
[28] Smith, A., Johnson, B., & Lee, C., “False positive results in non-invasive prenatal testing: Implications for patient care,” Prenatal Diagnosis, Vol.42, Issue.6, pp.721-730, 2022.
[29] Taylor-Phillips, S., Freeman, K., Geppert, J., et al., “Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: A systematic review and meta-analysis,” BMJ Open, Vol.11, Issue.1, pp.e047528, 2021.
[30] UK National Screening Committee, “NHS Fetal Anomaly Screening Programme Handbook 2023,” Public Health England, 2023.
[31] UNESCO International Bioethics Committee, “Report on ethical issues in prenatal genetic testing,” UNESCO Publishing, 2023.
[32] Wapner, R. J., Levy, B., Feldman, G., et al., “Whole-genome sequencing of cell-free fetal DNA: A pilot study,” New England Journal of Medicine, Vol.390, Issue.12, pp.1089-1101, 2024.
[33] Warsof, S. L., Larion, S., & Abuhamad, A. Z., “Overview of the impact of noninvasive prenatal testing on diagnostic procedures,” Prenatal Diagnosis, Vol.35, Issue.10, pp.972-979, 2018.
[34] Williams, R., “Long-term psychological effects of prenatal genetic screening: A 10-year follow-up study,” Journal of Genetic Counseling, Vol.33, Issue.4, 2024.