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.
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.
Authors: Peter Benn; Antoni Borrell; Jenny Crossley; Howard Cuckle; Lorraine Dugoff; Susan Gross; Jo-Ann Johnson; Ron Maymon; Anthony Odibo; Peter Schielen; Kevin Spencer; Dave Wright; Yuval Yaron Journal: Prenat Diagn Date: 2011-06 Impact factor: 3.050
Authors: Peter Benn; Antoni Borrell; Rossa W K Chiu; Howard Cuckle; Lorraine Dugoff; Brigitte Faas; Susan Gross; Tianhua Huang; Joann Johnson; Ron Maymon; Mary Norton; Anthony Odibo; Peter Schielen; Kevin Spencer; Dave Wright; Yuval Yaron Journal: Prenat Diagn Date: 2015-06-04 Impact factor: 3.050
Authors: Diana W Bianchi; Lawrence D Platt; James D Goldberg; Alfred Z Abuhamad; Amy J Sehnert; Richard P Rava Journal: Obstet Gynecol Date: 2012-05 Impact factor: 7.661
Authors: Sebastian Larion; Steven L Warsof; Letty Romary; Margaret Mlynarczyk; David Peleg; Alfred Z Abuhamad Journal: Obstet Gynecol Date: 2014-06 Impact factor: 7.661
Authors: Rossa W K Chiu; Ranjit Akolekar; Yama W L Zheng; Tak Y Leung; Hao Sun; K C Allen Chan; Fiona M F Lun; Attie T J I Go; Elizabeth T Lau; William W K To; Wing C Leung; Rebecca Y K Tang; Sidney K C Au-Yeung; Helena Lam; Yu Y Kung; Xiuqing Zhang; John M G van Vugt; Ryoko Minekawa; Mary H Y Tang; Jun Wang; Cees B M Oudejans; Tze K Lau; Kypros H Nicolaides; Y M Dennis Lo Journal: BMJ Date: 2011-01-11