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dc.contributor.authorHui, Lisa
dc.contributor.authorPynaker, Cecilia
dc.contributor.authorBonacquisto, Leonard
dc.contributor.authorLindquist, Anthea
dc.contributor.authorPoulton, Alice
dc.contributor.authorKluckow, Eliza
dc.contributor.authorHutchinson, Briohny
dc.contributor.authorNorris, Fiona
dc.contributor.authorPertile, Mark D
dc.contributor.authorGugasyan, Lucy
dc.contributor.authorKulkarni, Abhijit
dc.contributor.authorHarraway, James
dc.contributor.authorHowden, Amanda
dc.contributor.authorMcCoy, Richard
dc.contributor.authorCosta, Fabricio da Silva
dc.contributor.authoret al.
dc.date.accessioned2022-04-12T05:00:29Z
dc.date.available2022-04-12T05:00:29Z
dc.date.issued2021
dc.identifier.issn0002-9378
dc.identifier.doi10.1016/j.ajog.2021.03.050
dc.identifier.urihttp://hdl.handle.net/10072/413878
dc.description.abstractBackground: The American College of Obstetricians and Gynecologists and the Society for Maternal-Fetal Medicine recently recommended offering genetic counseling and diagnostic testing for enlarged nuchal translucency at ≥3.0 mm, regardless of previous negative screening with noninvasive prenatal testing. Objective: This study aimed to perform a population-based, individual record linkage study to determine the optimal definition of an enlarged nuchal translucency for the detection of atypical chromosome abnormalities. Study Design: This was a retrospective study of women resident in Victoria, Australia, undergoing combined first-trimester screening during the 24-month period from January 2015 to December 2016. Linkages between statewide results for combined first-trimester screening, prenatal diagnostic procedures, and postnatal cytogenetic results from products of conception and infants up to 12 months of age were used to ascertain the frequency and type of chromosome abnormality by gestation and nuchal translucency measurement. An atypical chromosome abnormality was defined as any major chromosome abnormality other than whole chromosome aneuploidy involving chromosomes 21, 18, 13, X, and Y. Results: Of the 81,244 singleton pregnancies undergoing combined first-trimester screening, 491 (0.60%) had a nuchal translucency of ≥3.5 mm, 534 (0.66%) had a nuchal translucency of 3.0 to 3.4 mm, and 80,219 (98.74%) had a nuchal translucency of < 3.0 mm. When grouped by nuchal translucency multiples of the median (MoM), 192 (0.24%) had a nuchal translucency of ≥3.0 MoM, 513 (0.63%) had a nuchal translucency of 1.9 to 2.9 MoM, and 80,539 (99.13%) had a nuchal translucency of <1.9 MoM. A total of 1779 pregnancies underwent prenatal or postnatal diagnostic testing, of which 89.60% were performed by whole-genome single-nucleotide polymorphism chromosomal microarray. The frequency of total major chromosome abnormalities was significantly higher in the group with a nuchal translucency of ≥3.5 mm (147 of 491, 29.94%) than the group with a nuchal translucency of 3.0 to 3.4 mm (21 of 534, 3.93%) or a nuchal translucency of <3.0 mm (71 of 80,219, 0.09%) (P<.001). There were 93 atypical chromosome abnormalities in the total screened cohort. The frequency of an atypical chromosome abnormality was 4.07% (95% confidence interval, 2.51–6.22), 0.37% (95% confidence interval, 0.05–1.35), and 0.09% (95% confidence interval, 0.07–0.11) in the groups with a nuchal translucency of ≥3.5 mm, 3.0 to 3.4 mm, and <3.0 mm, respectively. The frequency of atypical chromosome abnormalities was 4.69% (95% confidence interval, 2.17–8.71), 2.53% (95% confidence interval, 1.36–4.29), and 0.09% (95% confidence interval, 0.07–0.11) in the groups with a nuchal translucency of ≥3.0 MoM, 1.9 to 2.9 MoM, and <1.9 MoM, respectively. When defining thresholds for offering diagnosis with chromosomal microarray at 11 to 13 weeks, both a nuchal translucency threshold of 1.9 MoM and a fixed threshold of 3.0 mm captured 22 of 93 fetuses (23.7%) with an atypical chromosome abnormality. Of these, 50.0% had a coexisting fetal abnormality on ultrasound. However, the gestation-specific threshold of 1.9 MoM had a better specificity than 3.0 mm. The positive predictive value of an enlarged nuchal translucency for any atypical chromosome abnormality was 1 in 47 for nuchal translucency of >3.0 mm and 1 in 32 for nuchal translucency of >1.9 MoM. Our nuchal translucency threshold of 1.9 MoM captured 0.87% of fetuses, thus approximating the 99th centile. Conclusion: A gestational age–adjusted nuchal translucency threshold of 1.9 MoM or 99th centile is superior to the fixed cutoff of 3.0 mm for the identification of atypical chromosome abnormalities. The risk of an atypical chromosome abnormality in a fetus with an enlarged nuchal translucency is more than tripled in the presence of an additional ultrasound abnormality.
dc.description.peerreviewedYes
dc.languageEnglish
dc.publisherElsevier
dc.relation.ispartofconferencetitleAmerican Journal of Obstetrics and Gynecology
dc.relation.ispartoflocationUnited States
dc.relation.ispartofpagefrom527.e1
dc.relation.ispartofpageto527.e12
dc.relation.ispartofissue5
dc.relation.ispartofvolume225
dc.subject.fieldofresearchObstetrics and gynaecology
dc.subject.fieldofresearchcode321502
dc.subject.keywordsScience & Technology
dc.subject.keywordsLife Sciences & Biomedicine
dc.subject.keywordsObstetrics & Gynecology
dc.subject.keywordschromosomal abnormality
dc.subject.keywordsfirst-trimester screening
dc.titleReexamining the optimal nuchal translucency cutoff for diagnostic testing in the cell-free DNA and microarray era: results from the Victorian Perinatal Record Linkage study
dc.typeJournal article
dc.type.descriptionC1 - Articles
dcterms.bibliographicCitationHui, L; Pynaker, C; Bonacquisto, L; Lindquist, A; Poulton, A; Kluckow, E; Hutchinson, B; Norris, F; Pertile, MD; Gugasyan, L; Kulkarni, A; Harraway, J; Howden, A; McCoy, R; Costa, FDS; et al., Reexamining the optimal nuchal translucency cutoff for diagnostic testing in the cell-free DNA and microarray era: results from the Victorian Perinatal Record Linkage study, American Journal of Obstetrics and Gynecology, 2021, 225 (5), pp. 527.e1-527.e12
dcterms.dateAccepted2021-03-09
dc.date.updated2022-04-12T04:51:16Z
gro.hasfulltextNo Full Text
gro.griffith.authorDa Silva Costa, Fabricio


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