Dataset Information

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.

ABSTRACT: In the TRIDENT-2 study, all pregnant women in the Netherlands are offered genome-wide non-invasive prenatal testing (GW-NIPT) with a choice of receiving either full screening or screening solely for common trisomies. Previous data showed that GW-NIPT can reliably detect common trisomies in the general obstetric population and that this test can also detect other chromosomal abnormalities (additional findings). However, evidence regarding the clinical impact of screening for additional findings is lacking. Therefore, we present follow-up results of the TRIDENT-2 study to determine this clinical impact based on the laboratory and perinatal outcomes of cases with additional findings. Between April 2017 and April 2019, additional findings were detected in 402/110,739 pregnancies (0.36%). For 358 cases, the origin was proven to be either fetal (n = 79; 22.1%), (assumed) confined placental mosaicism (CPM) (n = 189; 52.8%), or maternal (n = 90; 25.1%). For the remaining 44 (10.9%), the origin of the aberration could not be determined. Most fetal chromosomal aberrations were pathogenic and associated with severe clinical phenotypes (61/79; 77.2%). For CPM cases, occurrence of pre-eclampsia (8.5% [16/189] vs 0.5% [754/159,924]; RR 18.5), and birth weight <2.3rd percentile (13.6% [24/177] vs 2.5% [3,892/155,491]; RR 5.5) were significantly increased compared to the general obstetric population. Of the 90 maternal findings, 12 (13.3%) were malignancies and 32 (35.6%) (mosaic) pathogenic copy number variants, mostly associated with mild or no clinical phenotypes. Data from this large cohort study provide crucial information for deciding if and how to implement GW-NIPT in screening programs. Additionally, these data can inform the challenging interpretation, counseling, and follow-up of additional findings.

SUBMITTER: van Prooyen Schuurman L

PROVIDER: S-EPMC9247828 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature

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Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.

van Prooyen Schuurman Lisanne L Sistermans Erik A EA Van Opstal Diane D Henneman Lidewij L Bekker Mireille N MN Bax Caroline J CJ Pieters Mijntje J MJ Bouman Katelijne K de Munnik Sonja S den Hollander Nicolette S NS Diderich Karin E M KEM Faas Brigitte H W BHW Feenstra Ilse I Go Attie T J I ATJI Hoffer Mariëtte J V MJV Joosten Marieke M Komdeur Fenne L FL Lichtenbelt Klaske D KD Lombardi Maria P MP Polak Marike G MG Jehee Fernanda S FS Schuring-Blom Heleen H Stevens Servi J C SJC Srebniak Malgorzata I MI Suijkerbuijk Ron F RF Tan-Sindhunata Gita M GM van der Meij Karuna R M KRM van Maarle Merel C MC Vernimmen Vivian V van Zelderen-Bhola Shama L SL van Ravesteyn Nicolien T NT Knapen Maarten F C M MFCM Macville Merryn V E MVE Galjaard Robert-Jan H RH

American journal of human genetics 20220601 6

In the TRIDENT-2 study, all pregnant women in the Netherlands are offered genome-wide non-invasive prenatal testing (GW-NIPT) with a choice of receiving either full screening or screening solely for common trisomies. Previous data showed that GW-NIPT can reliably detect common trisomies in the general obstetric population and that this test can also detect other chromosomal abnormalities (additional findings). However, evidence regarding the clinical impact of screening for additional findings i ...[more]

PMID: 35659929

Dataset Information

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.

Publications

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.

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