A retrospective single-center analysis of prenatal diagnosis and follow-up of 626 chinese patients with positive non-invasive prenatal screening results.20221130162822
A retrospective single-center analysis of prenatal diagnosis and follow-up of 626 chinese patients with positive non-invasive prenatal screening results.
Bu X, Zhou S, Li X, et al. Front Genet. 2022;13:965106. Published 2022 Sep 19. doi:10.3389/fgene.2022.965106. Open Access: Learn more
Tags: Clinical Experience / Clinical Utility, 2022, China, RAAs, CNVs
- Study of 626 women with positive NIPT results.
- PPVs were 81.13% for T21, 37.93% for T18, 18.42% for T13, 48.83% for SCAs, 18.37% for RATs, and 41.67% for microdeletion and microduplication syndromes (MMS).
- “Additional reporting of RATs and MMS with routine NIPS that only detects T21/T18/T13 and SCAs can yield more accurate diagnoses.”
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.”
Comparison of noninvasive prenatal screening for defined pathogenic microdeletion/microduplication syndromes and nonsyndromic copy number variations: a large multicenter study.20221130162520
Comparison of noninvasive prenatal screening for defined pathogenic microdeletion/microduplication syndromes and nonsyndromic copy number variations: a large multicenter study.
Yang L, Bu G, Ma Y, Zhao J, Rezak J, La X. J Comp Eff Res. 2022;11(17):1277-1291. doi:10.2217/cer-2022-0088. Open Access: Learn more
Tags: Clinical Experience / Clinical Utility, 2022, China, CNVs
- Retrospective study of over 19,000 pregnancies with NIPT.
- “The positive predictive value (PPV) of CNV-seq for all types of CNV detected by NIPT was 35.4%, with PPVs of 61.5 and 27.6% for pathogenic MMSs [microdeletion/microduplication syndromes] and nonsyndromic CNVs, respectively. PPVs for NIPT showed different values depending on gestational characteristics, with the highest PPV for NIPT in the group with increased nuchal thickness (66.7%) and for the abnormal ultrasound group (57.1%). CNVs ≤5 Mb with normal ultrasound findings were generally associated with a healthy fetus.”
Clinical experience of noninvasive prenatal testing for rare chromosome abnormalities in singleton pregnancies.20221130162431
Clinical experience of noninvasive prenatal testing for rare chromosome abnormalities in singleton pregnancies.
Hu T, Wang J, Zhu Q, et al. Front Genet. 2022;13:955694. Published 2022 Sep 26. doi:10.3389/fgene.2022.955694. Open Access: Learn more
Tags: Clinical Experience / Clinical Utility, 2022, China, RAAs, CNVs
- “The screen-positivity rate of NIPT for RCAs [rare chromosomal abnormalities] was 0.5% (842/158,824). Of the 528 gravidas who underwent amniocentesis, 29.2% (154/528) were confirmed to have positive prenatal SNP (single nucleotide polymorphism) array results. PPVs for rare autosomal trisomies (RATs) and segmental imbalances were 6.1% (7/115) and 21.1% (87/413), respectively. Regions of homozygosity/uniparental disomy (ROH/UPD) were identified in 9.5% (50/528) of gravidas. The PPV for clinically significant findings was 8.0% (42/528), including 7 cases with mosaic RATs, 30 with pathogenic/likely pathogenic copy number variants, and 5 with imprinting disorders.”
Genome-Wide Cell-Free DNA Test for Fetal Chromosomal Abnormalities and Variants: Unrestricted Versus Restricted Reporting.20221130162330
Genome-Wide Cell-Free DNA Test for Fetal Chromosomal Abnormalities and Variants: Unrestricted Versus Restricted Reporting.
Kwan AHW, Zhu X, Mar Gil M, et al. Diagnostics (Basel). 2022;12(10):2439. Published 2022 Oct 9. doi:10.3390/diagnostics12102439. Open Access: Learn more
Tags: Clinical Experience / Clinical Utility, 2022, China, RAAs, CNVs
- “The main finding of this study is that by restricting the reporting of cfDNA results to the three major fetal trisomies, SCAs, and seven microdeletion syndromes and avoiding the reporting of additional findings such as RATs, structural chromosome imbalances, all CNVs or multiple aneuploidies, the false-positive rate can be significantly lowered from 0.93% (95% CI 0.59–1.47) to 0.17% (95% CI 0.06–0.50), but without a reduction in the no-result rate.”
Health professionals and scientists’ views on genome-wide NIPT in the French public health system: Critical analysis of the ethical issues raised by prenatal genomics.20221130162106
Health professionals and scientists’ views on genome-wide NIPT in the French public health system: Critical analysis of the ethical issues raised by prenatal genomics.
Perrot A, Horn R. PLoS One. 2022;17(11):e0277010. Published 2022 Nov 1. doi:10.1371/journal.pone.0277010. Open Access: Learn more
Tags: Health Care Provider Perspectives, 2022, France, RAAs, CNVs
- Qualitative semi-structured interviews with 17 health professionals between September 2021 and February 2022 and a comprehensive literature review.
- “The results of our empirical research highlight the importance of addressing ethical issues related to the differing quality of counselling, the complexity of achieving informed consent, and the avoidance of harm to pregnant women in the feedback of findings beyond T21, T18 and T13. If there is an increase in the provision of GW-NIPT within the French public health system, it will be essential to promote medical practices that respect reproductive choices of women, support their autonomous decision and their understanding of the limitations and uncertainties associated with GW screening.”
Case Report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testing.20221130162010
Case Report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testing.
Yu J, Chen N, Chen M, Shen M, Qian Y, Dong M. Front Genet. 2022;13:1020525. Published 2022 Oct 31. doi:10.3389/fgene.2022.1020525. Open Access: Learn more
Tags: Case Report / Case Series, 2022, China, RAAs
- “Herein, we report a fetus of tetrasomy 9p without obvious phenotypic manifestations during the first trimester that was identified by non-invasive prenatal testing (NIPT). NIPT revealed that the gain of 9p24.3–9p11 that was approximately 46.36 Mb in size. Karyotyping of amniocytes indicated an additional marker in all metaphase. Chromosome microarray and fluorescence in situ hybridization on uncultured amniocytes revealed tetrasomic of 9p24.3q13, and that the supernumerary chromosome is a dicentric isochromosome consisted of two copies of the 9p arm. Taken together, it was indicated that the fetal karyotype was 47,XY,+idic (9) (q13), and that multiple techniques are crucial to the prenatal diagnosis.”
Perinatal outcomes of prenatal cases testing positive for trisomy 9 by noninvasive prenatal testing.20221130161922
Perinatal outcomes of prenatal cases testing positive for trisomy 9 by noninvasive prenatal testing.
Li H, Lu L, Yao Y, et al. Taiwan J Obstet Gynecol. 2022;61(6):965-970. doi:10.1016/j.tjog.2022.07.006. Open Access: Learn more
Tags: Case Report / Case Series, 2022, Taiwan, RAAs
- “Among the 16 cases [with NIPT results showing increased risk of trisomy 9], 2 cases of trisomy 9, 3 cases of trisomy 9 mosaicism, 2 cases reporting of regions of homozygosity and 9 cases of false positive were diagnosed. Among the true positive cases, 4 cases showed abnormal ultrasonic finding: 3 cases terminated pregnancy and 1 case was lost to follow-up. Another 1 case was in utero fetal demise in the second trimester without structural abnormality, and 2 cases were normal live birth without developmental abnormalities. In the 9 cases with normal karyotyping, 1 case had termination of pregnancy and 1 case with mental retardation and poor cognitive ability, other 7 had good pregnancy outcomes.”
Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).20221130161742
Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).
Grati FR, Bestetti I, De Siero D, et al.. Prenat Diagn. 2022;42(13):1575-1586. doi:10.1002/pd.6271.
Tags: Laboratory Performance / Laboratory Experience, 2022, Italy, RAAs
- “Diagnostic test results were collected for 1327 women with a positive NIPT. The highest PPVs were for Trisomy (T) 21 (624/671, 93%) and XYY (26/27, 96.3%), while rare autosomal trisomies (9/47, 19.1%) and recurrent microdeletions (8/55, 14.5%) had the lowest PPVs.”
- Prenatal diagnostic test results were collected by Italian laboratories between 2013 and March 2020 for 1327 women.
- PPV for RATs was 19.1% (9/47). PPV for segmental imbalances >7 Mb was 24.1% (7/29).
Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal Anomalies.20221130161556
Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal Anomalies.
Basaran S, Has R, Kalelioglu IH, et al. Genes (Basel). 2022;13(12):2389. Published 2022 Dec 16. doi:10.3390/genes13122389. Open Access: Learn more
Tags: Clinical Utility / Clinical Experience, 2022, Turkey, RAAs, CNVs
- “Out of 593 screen-positive results, 504 (85%) were for common aneuploidies, 40 (6.7%) for rare autosomal trisomies (RATs), and 49 (8.3%) for structural chromosome anomalies (SAs). Of the screen-positives for RATs, 20 cases were evaluated only in fetal tissue, and confined placental mosaicism (CPM) could not be excluded. Among cases with definitive results (n = 20), the rates of true positives, placental mosaics, and false positives were 35%, 45%, and 10%, respectively. Among screen-positives for SAs, 32.7% were true positives. The confirmation rate was higher for duplications than deletions (58.3% vs. 29.4%). The rate of chromosomal abnormality was 10.9% in the group of 256 screen-negatives with pathological ultrasound findings.”
- Fetal growth restriction and adverse pregnancy outcomes were seen in four CPM cases (T4, T7, T16, and T22).
- “We suggest that if cfDNA testing uncovers CPM, this does not mean cfDNA testing is ‘false positive.’ The detection of CPM needs adequate laboratory work and specific genetic counseling, including backup risk for low-level true fetal mosaicism and a higher risk for poor pregnancy outcomes.”