Experiences of pregnant women with genome-wide non-invasive prenatal testing in a national screening program.20231130161659

Experiences of pregnant women with genome-wide non-invasive prenatal testing in a national screening program.

van der Meij KRM, van de Pol QYF, Bekker MN, et al. Eur J Hum Genet. 2023;31(5):555-561. doi:10.1038/s41431-022-01248-x. Open Access: Learn more

Tags: Patient Perspectives, 2023, Netherlands, RAAs, CNVs

  • A pre-and post-test questionnaire was completed by 473 women choosing between targeted NIPT and GW-NIPT through the Dutch TRIDENT-2 study.
  • “Most respondents (90.4%) were glad to have been offered the choice between GW-NIPT and targeted NIPT; 76.5% chose GW-NIPT. Main reasons to choose GW-NIPT were ‘wanting as much information as possible regarding the child’s health’ (38.6%) and ‘to be prepared for everything’ (23.8%). Main reasons to choose targeted NIPT were ‘avoiding uncertain results/outcomes’ (33.7%) and ‘not wanting to unnecessarily worry’ (32.6%). Nearly all respondents received a low-risk NIPT result (98.7%). No differences were found in anxiety between women choosing GW-NIPT and targeted NIPT. Most respondents were favorable toward future prenatal screening for a range of conditions, including life-threatening disorders, mental disabilities, disorders treatable in pregnancy and severe physical disabilities, regardless of their choice for GW-NIPT or targeted NIPT. In conclusion, women who chose first-tier NIPT were satisfied with the choice between GW-NIPT and targeted NIPT, and most women were favorable toward a broader future screening offer.”
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study20221130163901

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

[published correction appears in Am J Hum Genet. 2022 Jul 7;109(7):1344]. van Prooyen Schuurman L, Sistermans EA, Van Opstal D, et al. Am J Hum Genet. 2022;109(6):1140-1152. doi:10.1016/j.ajhg.2022.04.018. Open Access: Learn more

Tags: Clinical Experience / Clinical Utility, 2022, Netherlands, RAAs, CNVs

  • “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.”
  • “In conclusion, about one in every 275 women in a general obstetric population opting for GW-NIPT receives an additional finding. The majority of additional findings identified by GW-NIPT have clinical impact. Most fetal chromosomal aberrations are pathogenic and associated with severe clinical phenotypes. (Assumed) CPM is significantly associated with adverse perinatal outcomes, requiring tailored obstetric care.”
Patient experience with non-invasive prenatal testing (NIPT) as a primary screen for aneuploidy in the Netherlands.20221130162611

Patient experience with non-invasive prenatal testing (NIPT) as a primary screen for aneuploidy in the Netherlands.

Kristalijn SA, White K, Eerbeek D, Kostenko E, Grati FR, Bilardo CM. BMC Pregnancy Childbirth. 2022;22(1):782. Published 2022 Oct 20. doi:10.1186/s12884-022-05110-2. Open Access: Learn more

Tags: Patient Perspectives, 2022, Netherlands, RAAs, CNVs

  • Study used online questionnaires and semi-structured interviews. 4539 questionnaire responses were analyzed; 60% of respondents had experienced NIPT.
  • “Conclusions: The patient experience with first-tier NIPT in the Netherlands was largely positive. Areas for improvement included counseling on the implications of screening and the different possible outcomes of NIPT, including additional findings that may be uncovered by expanding NIPT beyond the common trisomies.”
Non-invasive prenatal diagnosis for translocation carriers-YES please or NO go?20211130174624

Non-invasive prenatal diagnosis for translocation carriers-YES please or NO go?

Srebniak MI, Jehee FS, Joosten M, et al. Acta Obstet Gynecol Scand. 2021;100(11):2036-2043. doi:10.1111/aogs.14256. Open Access: Learn more

Tags: Clinical Experience / Clinical Utility, 2021, Netherlands, CNVs

  • Retrospective study of 12 cases of fetal unbalanced familial translocations, with NIPT and CMA results available.
  • For 10/12 cases, the translocation was accurately detected by NIPT and the parental translocation was previously not known.
  • “Conclusions: This study supports the hypothesis that routine NIPS may be used for prenatal diagnosis of unbalanced inheritance of familial translocations, especially with prior knowledge of the translocation allowing focused examination of the involved chromosomal regions. Our study showed that routine shallow sequencing designed for aneuploidy detection in cell free DNA may be sufficient for higher resolution NIPS, if specialized copy number software is used and if sufficient fetal fraction is present.”
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands20191201021030

TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

van der Meij KRM, Sistermans EA, Macville MVE, et al. Am J Hum Genet. 2019;105(6):1091-1101. doi:10.1016/j.ajhg.2019.10.005. Open Access: Learn more

Tags: Clinical Experience / Clinical Utility, 2019, Netherlands, RAAs, CNVs

  • This publication describes results from a nationwide implementation study in the Netherlands that examined the use of NIPT as a first-tier test offered to all pregnant women, with the option to have findings beyond trisomies 21, 18, and 13 reported based on patient request. 78% of pregnant women chose to have these additional findings reported to them.
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study20180131020044

Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

Van Opstal D, van Maarle MC, Lichtenbelt K, et al. Genet Med. 2018;20(5):480-485. doi:10.1038/gim.2017.132. Open Access: Learn more

Tags: Clinical Experience / Clinical Utility, 2018, Netherlands, RAAs, CNVs

  • This publication demonstrated the potential clinical utility of detecting chromosome anomalies other than the common aneuploidies using Expanded NIPT. In this study population, 1.6% of the cases undergoing Expanded NIPT were screen positive for a rare chromosome anomaly that was either a rare autosomal trisomy or a large partial deletion/duplication. Of these cases, 60% were associated with an adverse pregnancy outcome, including abnormal fetal phenotype and intrauterine growth restriction.