Prenatal screening for genetic disorders: updated guidelines, proposed counseling, a holistic approach for primary health care providers in developing countries

Shailesh Pande; Vandana Bansal; Geetanjali Sachdeva

doi:10.1515/dx-2024-0137

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Prenatal screening for genetic disorders: updated guidelines, proposed counseling, a holistic approach for primary health care providers in developing countries

Shailesh Pande , Vandana Bansal und Geetanjali Sachdeva

Veröffentlicht/Copyright: 16. April 2025

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Abstract

Prenatal screening (PNS) can be a very effective strategy for identifying the individuals at-risk of genetic disorders. In contrast to prenatal genetic tests, which are very expensive, require special set-ups and expertise, PNS can be of great help in reducing the burden of genetic disorders, especially in the Indian context. During the last 10 years, several advanced PNS tests utilizing new platforms, with comparatively more sensitivity and specificity, have emerged. PNS tests for chromosomal aneuploidies, microdeletion syndromes, hemoglobinopathies, neural tube defects etc. are available. However, primary health care providers need to be made more aware about the availability of different tests, the time point at which these need to be used, appropriateness of these tests to various presentations and interpretation of the result. They need to be periodically informed about the availability, limitations, sensitivity and specificity of different platforms for PNS. Further, there is a need to develop uniform, updated and practical guidelines on PNS and disseminate these to health care providers so as to benefit the mass population. This article compiles information on different types of PNS and prenatal diagnostic tests, commonly required for different genetic conditions. These recommendations may help clinicians and primary healthcare providers in PNS.

Keywords: Down syndrome; hemoglobinopathies; maternal serum test; neural tube defects; prenatal diagnosis; prenatal screening

Corresponding author: Dr. Shailesh Pande, MS, FDBT (Medical Genetics), Scientist-E, Head, Genetic Research Centre, ICMR-National Institute for Research in Reproductive and Child Health, Jehangir Merwanji Street, Parel, Mumbai 400012, India, E-mail: pandes@nirrch.res.in

Shailesh Pande and Vandana Bansal contributed equally to this work.

Funding source: ICMR-NIRRCH

Acknowledgments

We acknowledge the encouragement from Director General, Indian Council of Medical Research (ICMR) and Ministry for Health & Family Welfare, Government of India. We are thankful to Dr. Bharti Kulkarni Head, Reproductive, Child Health & Nutrition ICMR Hqrs, New Delhi for the guidance and support. We acknowledge Dr. Vishwa Mohan Katoch for the guidance. We are thankful to Dr. Niranjan Mayadeo, Head OBGY KEM Hospital, Mumbai, Dr. Pooja Bandekar, Professor OBGY and Fetal Medicine, Wadia Maternity, Mumbai, Dr. Kaushik Mondal, Additional Professor, Dept. of Medical Genetics, SGPGIMS, Lucknow and Dr. Rajesh Bendre, Head Pathology, Neuberg’s Diagnostics Mumbai for the valuable inputs. We are also thankful to Dr. Shaini Joseph Scientist D, Genetic Research Center, ICMR-NIRRCH for her assistance in manuscript preparation.

Research ethics: Not applicable. As per the IEC (ICMR – National Institute for Research in Reproductive and Child Health Ethics Committee) ethics approval is not required as patient data is not involved.
Informed consent: Not applicable.
Author contributions: Pande S. conceptualized the manuscript. Initial draft was written by Pande S. Editing was done by Bansal V. Pande S. & Bansal V. finalized the draft. Sachdeva G. guided for the preparation of the draft. Pande S., Bansal V. and Sachdeva G. reviewed the manuscript. All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Use of Large Language Models, AI and Machine Learning Tools: None declared.
Conflict of interest: The authors state no conflict of interest.
Research funding: This work was supported by ICMR-NIRRCH.
Data availability: Not applicable.

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Supplementary Material

This article contains supplementary material (https://doi.org/10.1515/dx-2024-0137).

Received: 2024-08-02

Accepted: 2025-03-20

Published Online: 2025-04-16

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https://doi.org/10.1515/dx-2024-0137

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Down syndrome; hemoglobinopathies; maternal serum test; neural tube defects; prenatal diagnosis; prenatal screening

Prenatal screening for genetic disorders: updated guidelines, proposed counseling, a holistic approach for primary health care providers in developing countries

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Abstract

Acknowledgments

References

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