Non-invasive Prenatal Test - A Pilot Pan-India Experience of an Indian Laboratory

Sinkar, Prachi; Iyer, Sandhya; Kallathiyan, Kallathikumar

doi:10.5530/ajbls.2020.9.63

Cited by 2 publications

(3 citation statements)

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“…In an Indian cohort including 513 (465 cases) the frequency of high risk reported was 3%, of which trisomy 21 was the highest (43%). The fetal fraction was reported at 11.12 and 11.5% in singleton and twin cases respectively which is similar to the results reported in a Pilot Pan Indian study; 11.3% +/-1.1 in the first and 11.3% +/-1.5 in the second trimester respectively [12] . In our study 6 cases of twin pregnancies underwent NIPT due to a high risk of chromosomal abnormalities considering AMA.…”

Section: Discussionsupporting

confidence: 88%

“…NIPT screening test is integrated into clinical practice as a prenatal screening test as per the American College of Medical Genetics and Genomics (ACMG) statement, 2013, and as a second-tier test for high-risk pregnancy in India [11] . NIPT has been recommended as an adjunct to serum aneuploidy detected in the first or second trimester [12] . The incidences of autosomal trisomies and chromosomal aneuploidies accelerate with an increase in maternal age [13] .…”

Section: Discussionmentioning

confidence: 99%

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Non-Invasive Prenatal Genetic Screening to Detect Trisomies In Singleton and Twin Pregnancies

Razdan¹,

Arora²,

Agarwal³

et al. 2022

ijmsci

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Background Screening for fetal anomalies is one of the most critical parts of prenatal testing to reduce the burden of chromosomal aberrations and improve clinical outcomes in pregnancy. The available literature suggests that India carries a strong economic, emotional, and health care burden of new-born genetic diseases. Material and Methods: We present a single-center retrospective study of 200 singletons and 6 dichorionic diamniotic twin gestations screened for chromosomal abnormalities and trisomies using NIPT. The patients were presented with a gestation period of 10-12 (plus a few days) weeks, clinically confirmed with singleton or diamniotic dizygotic twins, who underwent NIPT between the years 2021-2022 (mid) at our center. All the patients underwent sonographic examination and biochemical investigations with regular follow-up and genetic counseling. The clinical history and family history of the presence of any genetic disease or any other disease were previously taken by the clinician in all cases. The main clinical indications were increased risk of trisomies found in markers test, advanced maternal age, or presented with some mild complications in pregnancy. Results; Out of the total (206) pregnancies, only 2 singleton cases were found at high risk in NIPT screen, prospectively followed up, and showed normal twins in six cases of twin pregnancy growing successfully. The high-risk cases were genetically counselled and further tests using amniotic or chorionic villi samples were recommended by the clinician with regular clinical follow-up. Conclusion: This retrospective study clearly indicates that non-invasive prenatal testing in pregnancy is a safe and effective screening test to rule out certain chromosomal abnormalities and to omit the need of further invasive tests among low-risk cases.

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Section: Discussionsupporting

confidence: 88%

Section: Discussionmentioning

confidence: 99%

Non-Invasive Prenatal Genetic Screening to Detect Trisomies In Singleton and Twin Pregnancies

Razdan¹,

Arora²,

Agarwal³

et al. 2022

ijmsci

View full text Add to dashboard Cite

show abstract

“…These screening tests are non-invasive and inexpensive, but have their limitations on detection rate and true positivity. [2][3][4] The advances in molecular technology gave the ability to isolate and test cell free foetal DNA (cfDNA) from maternal blood to test for chromosomal aneuploidies. This changed the paradigm and introduced an innovative approach of prenatal testing in clinical practice.…”

Section: Introductionmentioning

confidence: 99%

Clinical utility of PregascreenTM reflex genetic testing for pre-natal screening in Indian population: A new diagnostic approach

Chadha,

Govalkar,

Banerjee

et al. 2023

IJOGR

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Prenatal screening with maternal biochemical dual and quadruple markers, along with reflex testing using karyotyping, and non-invasive prenatal testing via next-generation sequencing (NIPT-NGS) were evaluated to determine the clinical validity of Metropolis Pregascreen reflex testing approach among Indian women. Retro-prospective data of 51574 Indian women undergoing maternal marker screening from January 2021 to March 2022 were analysed at Metropolis Healthcare Limited, India. First and second-trimester prenatal screening were performed using Roche and Siemens platforms. Risk calculated using SSDW and PRISCA software, USG findings and biochemical values were incorporated. NIPT reflex testing was carried out using Thermo Ion torrent S5 NGS systems, while karyotyping on chronic villus sampling or amniocentesis. Total 51574 women opted for the combined biochemical markers test (dual and quadruple), 1394 cases (2.70%) and 50180 cases (97.28%) were screened as high-risk and low-risk, respectively. Of the total high-risk cases, 483 women (34.65%) opted for NIPT, while 25 (1.79%) opted for karyotyping reflex testing. Dual marker 92% and quadruple marker 94% of high risk cases were reclassified as low risk post NIPT, while dual marker 91% and quadruple marker 93% of high risk cases were reclassified as low risk post karyotyping. Possibility of ruling out false positive is almost equal with NIPT and karyotyping. Hence, invasive screening could be avoided as first line of investigation.Metropolis Pregascreen reflex testing with NIPT assisted in the delineation of actual high risk cases for accurate and safer diagnosis.

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Non-invasive Prenatal Test - A Pilot Pan-India Experience of an Indian Laboratory

Cited by 2 publications

References 0 publications

Non-Invasive Prenatal Genetic Screening to Detect Trisomies In Singleton and Twin Pregnancies

Non-Invasive Prenatal Genetic Screening to Detect Trisomies In Singleton and Twin Pregnancies

Clinical utility of PregascreenTM reflex genetic testing for pre-natal screening in Indian population: A new diagnostic approach

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