PhD Scientific Days 2024

Molecular Medicine I.

Genome-Wide, Non-Invasive Prenatal Testing for Rare Chromosomal Abnormalities: A Systematic Review and Meta-Analysis of Diagnostic Test Accuracy

Előadó neve

Mr. Kónya, Marton

Neptun code

KV0SGS

Előadó munkahelye

Czeizel Institute

Előadó telefonszáma

06303659634

Előadó e-mail címe

konya.marton@czeizelintezet.hu

Az előadás címe

Genome-Wide, Non-Invasive Prenatal Testing for Rare Chromosomal Abnormalities: A Systematic Review and Meta-Analysis of Diagnostic Test Accuracy

Szerző(k) neve és munkahelye

Marton Konya¹, Agnes Czimbalmos², Tamas Koi³, Caner Turan², Rita Nagy², Nandor Acs², Peter Hegyi², Szabolcs Varbiro⁴, Aniko Gal⁵

1: Czeizel Institute, Budapest, Hungary
2: Centre for Translational Medicine, Semmelweis University, Budapest, Hungary
3: Centre for Translational Medicine, Semmelweis University
4: Department of Obstetrics and Gynecology, University of Szeged, Hungary
5: Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary

Bemutatás módja

Szóbeli

Szekció

Molecular Medicine I.

Language of the presentation

English

Preferred session

Molecular Medicine

Összefoglaló szövege

Genome-Wide Non-Invasive Prenatal Testing (GW-NIPT) can provide positive results not only for common autosomal trisomies, but also for rare autosomal trisomies (RAT) and structural chromosomal abnormalities (SCA). Due to their rarity, there is currently insufficient information on the positive predictive values (PPV) of RAT and SCA-positive cases in the literature.
To identify more precise risk values to achieve better genetic consultation and clinical decisions.
We investigated the screening performance of positive cases for rare chromosomal aberrations by publications where a GW-NIPT study was performed. True positive cases were determined using two different methodologies. One was a confirmed methodology where only cases confirmed by genetic testing were considered true positives, the other was an extended methodology where, in addition to cases confirmed by genetic testing, intrauterine fetal death and termination of pregnancy due to an abnormality confirmed by ultrasound examination were also considered true positives.

A total of 14 studies were analyzed, with a total GW-NIPT population of 582,996. Of these, 1,364 were RAT positive. The pooled proportion of RAT-positive cases was 0.003 (95% CI: [0.002, 0.004]). The pooled PPV with the confirmed method was 0.06 (95% CI: [0.04, 0.10] PI: [0.01, 0.26]), whereas with the extended method, the pooled PPV was 0.12 (95% CI: [0.07, 0.22] PI: [0.01, 0.60]), but PPV varied by chromosome. Using a confirmed method, we found the highest rates of true positives in T16, with a random-effects pooled proportion of 0.00002 among all NIPT, followed by T22, with a random-effects pooled proportion of 0.00002, and T2, with a random-effects pooled proportion of 0.00001. Using an extended method, we found the highest rate of true positives in T22, with a random-effects pooled proportion of 0.00004, followed by T16, with a random-effects pooled proportion of 0.00004, and T15, with a random-effects pooled proportion of 0.00003.

The test-positive and pooled PPV data reported in this publication can help patients select the appropriate NIPT test, whereas PPV values for individual chromosomes and structural chromosomal abnormalities are of significant importance in post-test genetic counseling, choice of confirmation method and patient decision-making.

University

Semmelweis University

Supervisor

Aniko Gal

Publication of my abstract

I give consent to the publication of my abstract on the website of the congress.

Kind

Szabad

Status

elfogadva

Accepted presentation method

szóbeli

Előadás fájl jóváhagyás

nem rendelkezett róla

Előadó

8039

Start

12:00

End

12:10