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.”
Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy number variations: A prospective study from a single center in Jiangxi province, China.20231130161412
Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy number variations: A prospective study from a single center in Jiangxi province, China.
Zou Y, Feng C, Qin J, et al. Front Genet. 2023;13:1073851. Published 2023 Jan 13. doi:10.3389/fgene.2022.1073851. Open Access: Learn more
Tags: Clinical Experience / Clinical Utility, 2023, China, RAAs, CNVs
- Of 23,116 patients, 264 (1.14%) had a positive NIPT-Plus result, including 233 aneuploidies and 31 CNVs. 233 (88.26%) patients had invasive diagnostic testing and 136 results were confirmed as true positives, including 2 RATs and 15 CNVs.
- PPVs for RATs and CNVs were 6.67% and 51.72%, respectively.
The role of non-invasive prenatal testing and ultrasound in prenatal screening of fetal chromosomal abnormalities in singleton: a retrospective study.20231130161321
The role of non-invasive prenatal testing and ultrasound in prenatal screening of fetal chromosomal abnormalities in singleton: a retrospective study.
Yuan X, Yong W, Dai L, Wang W, Wu L. Ann Transl Med. 2023;11(2):111. doi:10.21037/atm-22-6343. Open Access: Learn more
Tags: Clinical Experience / Clinical Utility, 2023, China, RAAs, CNVs
- Retrospective study of over 12,000 women who underwent NIPT / expanded NIPT (NIPT-Plus), including 111 cases of positive results.
- PPVs of NIPT/NIPT-Plus for microdeletion/microduplication syndrome (MMS) and RATs were 44.4% and 7.7%, respectively.
- Ultrasound findings of SCAs, MMS, and RATs were relatively mild and included normal findings, soft markers, fetal growth restriction, or polyhydramnios, and the ultrasound findings were similar between false positive and true positive cases.
Clinical utility of expanded non-invasive prenatal screening compared with chromosomal microarray analysis in over 8000 pregnancies without major structural anomaly.20231130161128
Clinical utility of expanded non-invasive prenatal screening compared with chromosomal microarray analysis in over 8000 pregnancies without major structural anomaly.
Maya I, Salzer Sheelo L, Brabbing-Goldstein D, et al. Ultrasound Obstet Gynecol. 2023;61(6):698-704. doi:10.1002/uog.26177.
Tags: Clinical Experience / Clinical Utility, 2023, Israel, RAAs, CNVs
- “Conclusions: 5-NIPS and even genome-wide NIPS would miss 63.9% and 54.1% of clinically significant CMA findings [in pregnancies without major structural anomalies], respectively. The added value of 5-NIPS expanded to detect common microdeletions over 5-NIPS is about 0.035%, and the overall added value of genome-wide NIPS aimed at large CNVs is about 0.14%, both much lower compared with the added value of CMA (0.91%).”
A Case Report of a Feto-Placental Mosaicism Involving a Segmental Aneuploidy: A Challenge for Genome Wide Screening by Non-Invasive Prenatal Testing of Cell-Free DNA in Maternal Plasma.20231130160922
A Case Report of a Feto-Placental Mosaicism Involving a Segmental Aneuploidy: A Challenge for Genome Wide Screening by Non-Invasive Prenatal Testing of Cell-Free DNA in Maternal Plasma.
De Falco L, Vitiello G, Savarese G, et al. Genes (Basel). 2023;14(3):668. Published 2023 Mar 7. doi:10.3390/genes14030668. Open Access: Learn more
Tags: Case Report / Case Series, 2023, Italy, CNVs
- Case report of 44.1 Mb 4p dup detected by NIPT at 12 weeks. Amniocentesis was performed at 18 weeks; SNP (single nucleotide polymorphism) array found a de novo2 Mb deletion on chromosome 4 near the Wolf-Hirschhorn syndrome critical region and a normal 46,XY karyotype was identified by G-banding analysis.
- Studies of fetal and placental tissue confirmed presence of type VI true fetal mosaicism, with SNP array on 3 placental samples showing different results.
Value of noninvasive prenatal testing in the detection of rare fetal autosomal abnormalities.20231130160845
Value of noninvasive prenatal testing in the detection of rare fetal autosomal abnormalities.
Zhang M, Tang J, Li J, et al. Eur J Obstet Gynecol Reprod Biol. 2023;284:5-11. doi:10.1016/j.ejogrb.2023.03.002. Open Access: Learn more
Tags: Clinical Experience / Clinical Utility, 2023, China, RAAs, CNVs
- “Results: NIPT detected 292 cases (0.36%) with rare autosomal abnormalities among the 81,518 cases sampled. Of these, 140 (0.17%) showed rare autosomal trisomies (RATs), and 102 of these patients agreed to undergo invasive testing. Five cases were true positives, with a positive predictive value (PPV) of 4.90%. Copy number variants (CNV) were detected in 152 samples of the total cases (0.19%), and 95 of the patients involved agreed to the use of CMA. Twenty-nine of these cases were confirmed to be true positive, with a PPV of 30.53%. Detailed follow-up information was obtained in 81 cases from 97 patients with false-positive results for RATs. Thirty-seven of these cases (45.68%) had adverse perinatal outcomes, with a higher incidence of small for gestational age (SGA), intrauterine growth retardation (IUGR), and preterm birth (PTB).”
- “Conclusions: NIPT is not recommended for screening for RATs. However, considering that positive results are associated with an increased risk of IUGR and PTB, additional fetal ultrasound examination should be performed to monitor fetal growth. In addition, NIPT has a reference value in screening for CNVs, especially pathogenic CNVs, but a comprehensive analysis of prenatal diagnosis combined with ultrasound and family history is still needed.”
Western Australian women’s expectations for expanded NIPT-An online survey regarding NIPT for single gene, recessive and chromosomal conditions20231130160747
Western Australian women’s expectations for expanded NIPT-An online survey regarding NIPT for single gene, recessive and chromosomal conditions
Long S, O’Leary P, Dickinson JE. J Genet Couns. 2023;10.1002/jgc4.1715. doi:10.1002/jgc4.1715. Open Access: Learn more
Tags: Patient Perspectives, 2023, Australia, RAAs, CNVs
- 219 women in Western Australia were surveyed regarding the use of NIPT to detect multiple different single gene and chromosome conditions.
- Most women (96%) supported expanded NIPT for single gene and chromosome conditions as long as the test does not pose any risk to the pregnancy and can provide relevant medical information about the fetus. Most women (80%) indicated that expanded NIPT should be available at any stage during pregnancy and 68% indicated that the cost of the test would influence their participation in testing.
Clinical Experience with Genome-Wide Noninvasive Prenatal Screening in a Large Cohort of Twin Pregnancies.20231130160555
Clinical Experience with Genome-Wide Noninvasive Prenatal Screening in a Large Cohort of Twin Pregnancies.
De Falco L, Savarese G, Savarese P, et al. Genes (Basel). 2023;14(5):982. Published 2023 Apr 26. doi:10.3390/genes14050982. Open Access: Learn more
Tags: Laboratory Performance / Laboratory Experience, 2023, Italy, RAAs, CNVs
- Cohort of 1,244 twin pregnancy samples undergoing NIPT, of which 61.5% chose GW-NIPT for RAAs and CNVs in addition to common trisomies.
- There were 29 high-risk results: 18 T21, one T18, 6 RAA, and 4 CNV cases. Clinical and diagnostic follow-up was available for 27/29 (93%) of these cases.
- Clinical follow-up was available for 96.6% of low-risk cases; all were true negatives.
Patient attitudes and preferences about expanded noninvasive prenatal testing.20231130160457
Patient attitudes and preferences about expanded noninvasive prenatal testing.
Dubois ML, Winters PD, Rodrigue MA, Gekas J. Front Genet. 2023;14:976051. Published 2023 Apr 18. doi:10.3389/fgene.2023.976051 Open access: Learn more
Tags: Patient Perspectives, 2023, Canada, RAAs, CNVs
- 200 general-risk patients in Quebec were surveyed regarding their expectations for expanded NIPT.
- 88% wanted all information that could have an immediate impact on fetal health, 82% wanted all information that could have an immediate impact on infant health from birth, and almost half wanted information about RAAs and/or all genetic information that may affect the baby.
Late first-trimester ultrasound findings can alter management after high-risk NIPT result.20231130160308
Late first-trimester ultrasound findings can alter management after high-risk NIPT result.
Scott F, Smet ME, Elhindi J, et al. Ultrasound Obstet Gynecol. 2023;10.1002/uog.26272. doi:10.1002/uog.26272
Tags: Clinical Experience / Clinical Utility, 2023, Australia, RAAs, CNVs
- Retrospective study of all cases with NIPT from 3 tertiary providers of obstetric ultrasound using NIPT as a first line screening test over a 4-year period.
- “The LTFU [late first trimester ultrasound] findings significantly altered the PPV of the NIPT result for trisomies 13, 18 and 21, monosomy X (MX) and rare autosomal trisomies (RATs), but not for the other sex chromosomal abnormalities or segmental imbalances (>7 Mb). An abnormal LFTU increased the PPV close to 100% for trisomies 13, 18 and 21, MX and RATs. The magnitude of the PPV alteration was highest for the lethal chromosomal abnormalities.”
- “Conclusions: LTFU after a high-risk NIPT result can alter the PPV of many chromosomal abnormalities, assisting counselling regarding invasive prenatal testing and pregnancy management.”