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

Autor: Sheela Nampoorthiri, Francis X Kidangan, G. Ravi Kumar, C. Kiran, R. Chandran, Ratna Dua Puri, Mamatha Gowda, Eswarachary Venkataswamy, Riyaz Akhtar, Meenu Batra, Jayshree Ganapathi Subramanian, Shruti Lingaiah, Sridevi Hegde, Pallavi Mishra, Neerja Gupta, Madhulika Kabra, Anita Kaul, Ishwar Chander Verma, Chitra Andrew, V. L. Ramprasad, Rashmi Bagga, Priya Kadam, Tulika Tayal
Rok vydání: 2018
Předmět:
Zdroj: The Journal of Obstetrics and Gynecology of India. 68:462-470
ISSN: 0975-6434
0971-9202
DOI: 10.1007/s13224-017-1061-9
Popis: 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.
Databáze: OpenAIRE
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