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

Verma, Ishwar C.; Puri, Ratna Dua; Venkataswamy, E; Tayal, Tulika; Nampoorthiri, Sheela; Andrew, Chitra; Kabra, Madhulika; Bagga, Rashmi; Gowda, Mamatha; Batra, Manav; Hegde, Shivanand; Kaul, Anita; Gupta, Neerja; Mishra, Pallavi; Subramanian, Jayshree Ganapathi; Lingaiah, Shruti; Akhtar, Riyaz; Kidangan, Francis; Chandran, R.; Kiran, Chandra; Kumar, Gyanesh; Ramprasad, VL; Kadam, Priya

doi:10.1007/s13224-017-1061-9

Cited by 12 publications

(17 citation statements)

References 36 publications

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“…A study of NIPT's effectiveness conducted in India with 516 pregnant people at an intermediate (1:1,000 to 1:250) to high (greater than 1:250) chance of T21 showed a lower positive predictive value for T21 compared with other studies (168). However, the overall positive predictive value for T21, T18, T13, and monosomy X was similar to that of other studies.…”

Section: Indiasupporting

confidence: 65%

The Emergence and Global Spread of Noninvasive Prenatal Testing

Ravitsky

Roy

Haidar

et al. 2021

Annu. Rev. Genom. Hum. Genet.

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Since its introduction in 2011, noninvasive prenatal testing (NIPT) has spread rapidly around the world. It carries numerous benefits but also raises challenges, often related to sociocultural, legal, and economic contexts. This article describes the implementation of NIPT in nine countries, each with its own unique characteristics: Australia, Canada, China and Hong Kong, India, Israel, Lebanon, the Netherlands, the United Kingdom, and the United States. Themes covered for each country include the structure of the healthcare system, how NIPT is offered, counseling needs and resources, and cultural and legal context regarding disability and pregnancy termination. Some common issues emerge, including cost as a barrier to equitable access, the complexity of decision-making about public funding, and a shortage of appropriate resources that promote informed choice. Conversely, sociocultural values that underlie the use of NIPT vary greatly among countries. The issues described will become even more challenging as NIPT evolves from a second-tier to a first-tier screening test with expanded use. Expected final online publication date for the Annual Review of Genomics and Human Genetics Volume 22 is August 2021. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

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Section: Indiasupporting

confidence: 65%

The Emergence and Global Spread of Noninvasive Prenatal Testing

Ravitsky

Roy

Haidar

et al. 2021

Annu. Rev. Genom. Hum. Genet.

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“…FCA rates were typical of the distribution in an unselected population [ 2 , 18 , 19 ]. Comparisons of the groups with and without outcome data showed a similar distribution except for a slightly higher high-risk rate in the no-outcome record group (Table 5 ).…”

Section: Discussionmentioning

confidence: 99%

Audit of the first > 7500 noninvasive prenatal aneuploidy tests in a Swiss genetics center

Bajka

Chablais

et al. 2021

Arch Gynecol Obstet

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Objectives Noninvasive prenatal testing (NIPT) is actually the most accurate method of screening for fetal chromosomal aberration (FCA). We used pregnancy outcome record to evaluate a complete data set of single nucleotide polymorphism-based test results performed by a Swiss genetics center. Materials and methods The Panorama® test assesses the risk of fetal trisomies (21, 18 and 13), gonosomal aneuploidy (GAN), triploidy or vanishing twins (VTT) and five different microdeletions (MD). We evaluated all 7549 test results meeting legal and quality requirements taken in women with nondonor singleton pregnancies between April 2013 and September 2016 classifying them as high or low risk. Follow-up ended after 9 months, data collection 7 months later. Results The Panorama® test provided conclusive results in 96.1% of cases, detecting 153 FCA: T21 n = 76, T18 n = 19, T13 n = 15, GAN n = 19, VTT n = 13 and MD n = 11 (overall prevalence 2.0%). Pregnancy outcome record was available for 68.6% of conclusive laboratory results, including 2.0% high-risk cases. In this cohort the Panorama® test exhibited 99.90% sensitivity for each trisomy; specificity was 99.90% for T21, 99.98% for T18 and 99.94% for T13. False positive rate was 0.10% for T21, 0.02% for T18 and 0.06% for T13. Conclusion SNP-based testing by a Swiss genetics center confirms the expected accuracy of NIPT in FCA detection.

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“…(2.3%) [22]. We found that the median fetal fraction in the group of no-call cases was more than three times lower in comparison with other groups.…”

Section: Discussionmentioning

confidence: 46%

“…Previous publications showed that PPV was 97.4% for trisomy 21 and 88.9% for trisomy 18 [21]. However, an Indian study estimated PPV of trisomy 21 and sex chromosome abnormalities XXX, XXY (80% and 50%, respectively), which was much lower compared with our results, but PPV of trisomy 18 was identical to the findings obtained from our research (100%) [22]. An important issue is that any high-risk score in NIPT should be confirmed by invasive prenatal diagnosis before any decisions about pregnancy.…”

Section: Discussionmentioning

confidence: 88%

The Level of Free Fetal DNA as Precise Noninvasive Marker for Chromosomal Aneuploidies: First Results from BALTIC Region

et al. 2020

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Background and objectives: Noninvasive prenatal testing (NIPT), which has been introduced clinically since 2011, uses the circulating cell-free fetal DNA in the maternal blood to evaluate the risk of a chromosomal anomaly. The aim of this study was to examine the effectiveness of NIPT using a single nucleotide polymorphism method. Materials and Methods: A retrospective study was conducted between 2013 and 2019. The Natera Panorama test was used to analyze the risk of trisomies 21, 18, 13, X monosomy, trisomy, and other sex chromosome abnormalities. A positive result of NIPT for aneuploidy was confirmed by invasive testing. Results: 850 women with a singleton pregnancy participated in the study. The median fetal fraction was 9.0%. The fetal fraction was lower in the no-call group (3.1%) compared with the group that received a call (9.1%) (p < 0.001). A positive correlation was determined between the gestational age and the fetal fraction (r = 0.180, p < 0.001). The overall positive predictive value (PPV) of NIPT for trisomy 21 (n = 9), trisomy 18 (n = 3) and XYY syndrome (n = 1) was 100%. Conclusions: The results of present study showed 100% PPV effectiveness of NIPT Panorama test detecting trisomies of 21 and 18 chromosomes, as well as XYY syndrome in the studied cohort. Therefore, NIPT due to its high PPV, significantly reduces the need for invasive testing, thereby reducing the risk of miscarriage and stillbirth.

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

Cited by 12 publications

References 36 publications

The Emergence and Global Spread of Noninvasive Prenatal Testing

The Emergence and Global Spread of Noninvasive Prenatal Testing

Audit of the first > 7500 noninvasive prenatal aneuploidy tests in a Swiss genetics center

The Level of Free Fetal DNA as Precise Noninvasive Marker for Chromosomal Aneuploidies: First Results from BALTIC Region

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