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Single Nucleotide Polymorphism-Based Noninvasive Prenatal Testing: Experience in India

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Abstract

Introduction

Noninvasive prenatal testing (NIPT) has revolutionized prenatal screening for chromosomal aneuploidies in some countries. Its implementation has been sporadic in developing countries. Given the genetic variation of the people in different countries, we evaluated the performance of the SNP-based NIPT in India .

Materials and Methods

The Panorama™ NIPT was performed in 516 pregnancies, which had tested intermediate-to-high risk on conventional first and second trimester screening. Results were confirmed either by invasive diagnostic testing or by clinical evaluation after birth.

Results

Of 511 samples analyzed, results were obtained in 499 (97.7%). Of these, 480 (98.2%) were low risk and 19 were high risk. A sensitivity of 100% was obtained for detection of trisomies 21, 18, 13 and sex chromosomal abnormalities. The specificity ranged from 99.3 to 100% for abnormalities tested. Taken together, the positive predictive value for trisomies 21, 18, 13 and monosomy X was 85.7%. The average fetal fraction was 8.2%, which is lower than the average observed elsewhere.

Conclusion

This is the first report of detailed experience with NIPT in India and demonstrates comparable performance in all aspects of testing to the results elsewhere.

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Author information

Authors and Affiliations

  1. Sir Ganga Ram Hospital, New Delhi, India

    Ishwar Chander Verma, Ratna Puri & Jayshree Ganapathi Subramanian

  2. Medgenome Laboratory Private Limited, 3rd Floor, 258/A, Narayana Nethralaya, Narayana Health City, Hosur Road, Bommasandra, Bengaluru, 560099, India

    Eswarachary Venkataswamy, Shruti Lingaiah, Riyaz Akhtar, Francis Kidangan, R. Chandran, C. Kiran, G. R. Ravi Kumar, V. L. Ramprasad & Priya Kadam

  3. Rainbow Hospital, Hyderabad, India

    Tulika Tayal

  4. Amrita Institute of Medical Sciences and Research Center, Kochi, India

    Sheela Nampoorthiri

  5. Sri Ramachandra Medical College, Chennai, India

    Chitra Andrew

  6. All India Institute of Medical Sciences, New Delhi, India

    Madhulika Kabra, Neerja Gupta & Pallavi Mishra

  7. Postgraduate Institute and Medical Research Center, Chandigarh, India

    Rashmi Bagga

  8. Jawaharlal Nehru Institute of Postgraduate Medical Education and Research, Pondicherry, India

    Mamatha Gowda

  9. CIMAR Fertility Center, Kochi, India

    Meenu Batra

  10. Manipal Hospital, Bengaluru, India

    Sridevi Hegde

  11. Indraprastha Apollo Hospital, New Delhi, India

    Anita Kaul

Authors
  1. Ishwar Chander Verma
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  2. Ratna Puri
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  13. Neerja Gupta
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  15. Jayshree Ganapathi Subramanian
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  16. Shruti Lingaiah
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  18. Francis Kidangan
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  19. R. Chandran
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  20. C. Kiran
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  21. G. R. Ravi Kumar
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  22. V. L. Ramprasad
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  23. Priya Kadam
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Corresponding author

Correspondence to Priya Kadam.

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Conflict of interest

Authors Dr. Ramprasad VL, Dr. Priya Kadam, Dr. Venkataswamy E, Shruti Lingaiah, Riyaz Akhtar, Francis Kidangan, Chandran R., Kiran C., and Ravi Kumar G. R. were/are employed with Medgenome Laboratories Private Limited during the course of the project.

Ethical approval

The study was reviewed and approved by ethical review board of the institutions that participated in the study. All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed Consent

Informed consent was obtained from all individual participants included in the study.

Additional information

Prof. I.C. Verma is the HOD in the Department of Centre of Medical Genetics Sir Ganga Ram Hospital, New Delhi, India; Ratna Puri is Professor and Chairperson, Institute of Medical Genetic and Genomics, Sir Ganga Ram Hospital, New Delhi, India; Eswarachary Venkataswamy is Associate Director Q&A, Medgenome Labs Pvt. Ltd, Bengaluru, India; Tulika Tayal is Maternal and Fetal Medical Consultant, Rainbow Hospital, Hyderabad, India; Sheela Nampoorthiri is Clinical Professor, Department of Paediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Kochi, India; Chitra Andrew is Senior Consultant, Obstetrics and Gynecology, Sri Ramachandra Medical College, Chennai, India; Madhulika Kabra is Additional Professor and Officer-in-Charge, Genetic Unit, All India Institute of Medical Sciences, New Delhi, India; Rashmi Bagga is Professor, Obstetrics and Gynecology, Postgraduate Institute and Medical Research Center, Chandigarh, India; Mamatha Gowda is Assistant Professor, Obstetrics and Gynecology, Jawaharlal Nehru Institute of Postgraduate Medical Education and Research, Pondicherry, India; Meenu Batra is Consultant Radiologist, Feto-maternal Medicine, CIMAR Fertility Center, Kochi, India; Sridevi Hegde is Head, Department of Medical Genetics, Manipal Hospital, Bengaluru, India; Anita Kaul is Senior Consultant and Coordinator, Indraprastha Apollo Hospital, New Delhi, India; Neerja Gupta is Assistant Professor, Division of Genetics, All India Institute of Medical Sciences, New Delhi, India; Pallavi Mishra is Biochemist, All India Institute of Medical Sciences, New Delhi, India; Jayshree Ganapathi Subramanian is NIPT Project Coordinator, Sir Ganga Ram Hospital, New Delhi, India; Shruti Lingaiah is Senior Research Associate, Medgenome Labs Pvt. Ltd, Bengaluru, India; Riyaz Akhtar is Senior Research Associate, Medgenome Labs Pvt. Ltd, Bengaluru, India; Francis Kidangan is Research Associate, Medgenome Labs Pvt. Ltd, Bengaluru, India; Chandran R. is Research Associate, Medgenome Labs Pvt. Ltd, Bengaluru, India; Kiran C is Senior Research Associate, Medgenome Labs Pvt. Ltd, Bengaluru, India; Ravi Kumar GR is Research Associate, Medgenome Labs Pvt. Ltd, Bengaluru, India; Ramprasad V.L. is the Chief Operating Officer, Medgenome Labs Pvt. Ltd, Bengaluru, India; Priya Kadam is NIPT Project Director, Medgenome Labs Pvt. Ltd, Bengaluru, India.

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Verma, I.C., Puri, R., Venkataswamy, E. et al. Single Nucleotide Polymorphism-Based Noninvasive Prenatal Testing: Experience in India. J Obstet Gynecol India 68, 462–470 (2018). https://doi.org/10.1007/s13224-017-1061-9

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  • DOI: https://doi.org/10.1007/s13224-017-1061-9

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