Evidence map›Paper›PMID 41299317›Full record

ArticleBMC pregnancy and childbirth2025

Clinical performance of expanded non-invasive prenatal testing for aneuploidies: a real-world experience in Thailand.

Nareenun Chansriniyom, Panyu Panburana, Wasun Chantratita, Insee Sensorn, Duangrurdee Wattanasirichaigoon, Maneerat Prakobpanich, Sthaporn Nimnoo, Chayada Tangshewinsirikul

Abstract read
In one paragraph

Article in BMC pregnancy and childbirth, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Nareenun ChansriniyomDivision of Maternal-Fetal Medicine, Department of Obstetrics & Gynaecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Panyu PanburanaDivision of Maternal-Fetal Medicine, Department of Obstetrics & Gynaecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Wasun ChantratitaCenter for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Insee SensornCenter for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Duangrurdee WattanasirichaigoonDivision of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Maneerat PrakobpanichDepartment of Obstetrics & Gynaecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Sthaporn NimnooDepartment of Obstetrics & Gynaecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Chayada TangshewinsirikulDivision of Maternal-Fetal Medicine, Department of Obstetrics & Gynaecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand. Chayada.tan@mahidol.ac.th.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundData from high-income countries have shown that expanded non-invasive prenatal testing (NIPT) is highly reliable for detecting common autosomal trisomies (CATs), whereas its diagnostic accuracy for rare autosomal trisomies (RATs) remains relatively low. Information on the clinical performance of expanded NIPT in middle- and low-income countries is still limited. The objective of this study was to evaluate the clinical validity and utility of an expanded NIPT for CATs, sex chromosome aneuploidies (SCAs), and RATs following its nationwide clinical implementation.

methodsThe results of NIPT were retrospectively reviewed. Those with high-risk test results were followed up via phone and/or by reviewing medical records regarding the downstream prenatal diagnosis and the pregnancy outcomes.

resultsThe NIPT results of 19,714 samples were analyzed. We found screening positive rate of 0.95%; sensitivity at 97.92%, 94.12%, 85.71%, and 90% for T21, T18, T13, and SCAs; and PPV at 87.04%, 69.57%, 50%, and 54.55% for T21, T18, T13, and SCAs respectively. As for RATs, clinical validity included sensitivity at 100% and PPV of 13.3%. Over 95% of the participants with high-risk NIPT results underwent prenatal diagnosis. The majority (86.52%) of those with a confirmed diagnosis chose termination of the pregnancy.

conclusionsThis large-scale study of mixed-risk pregnancies revealed that expanded NIPT had a good sensitivity for CATs (specifically for T21 and T18) and RATs; and fair sensitivity for T13 and SCAs. The PPV is acceptable for CATs and SCAs, but poor for RATs. These data indicated that expanded NIPT results strongly influenced pregnancy outcomes in a real-world experience.

Indexed as

AneuploidyNoninvasive Prenatal TestingPrenatal DiagnosisTrisomyAdultFemaleHumansPregnancyPregnancy OutcomeReproducibility of ResultsRetrospective StudiesSensitivity and SpecificityThailandCell-free DNAClinical utilityClinical validityNIPT

Identifiers

PMID41299317
PMCPMC12679787

What Socratic holds

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LicenceCC BY-NC-ND
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.