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Article: Factors associated with common and atypical chromosome abnormalities after positive combined first-trimester screening in Chinese women: a retrospective cohort study

TitleFactors associated with common and atypical chromosome abnormalities after positive combined first-trimester screening in Chinese women: a retrospective cohort study
Authors
KeywordsCell-free DNA screening
Non-invasive prenatal testing
Risk of atypical aneuploidies
Detection rate
Aneuploidy screening
Issue Date2019
PublisherBioMed Central Ltd. The Journal's web site is located at http://www.biomedcentral.com/bmcpregnancychildbirth/
Citation
BMC Pregnancy and Childbirth, 2019, v. 19, p. article no. 55 How to Cite?
AbstractBackground: When cell-free DNA (cfDNA) testing is used as a secondary screening tool following combined first-trimester screening (cFTS), cFTS is used to estimate the prior risk for chromosome abnormalities. This study aimed to assess the factors that are associated with common and atypical abnormalities following cFTS, including cFTS risk, advanced maternal age, increased nuchal translucency (NT) ≥3.5 mm, and abnormal levels of serum markers. Methods: We reviewed a historical cohort of 1855 Chinese women carrying singleton pregnancies with a positive cFTS [at a threshold of 1:250 for trisomy (T) 21 or 1:180 for T18] in one public hospital over a five-year period. All chromosome abnormalities were confirmed by invasive prenatal diagnosis (IPD) with karyotyping, with or without array comparative genomic hybridization. Using multivariable binary logistic regression analysis, we determined the parameters that were associated with common and atypical abnormalities. Results: Overall, the prevalence of common and atypical abnormalities was 6.2 and 1.2%, respectively, and the prevalence increased with the risk of T21 by cFTS. In pregnancies with a risk of T21 > 1 in 100, a high risk of both T21 and T18, an increased NT, or a pregnancy-associated plasma A (PAPP-A) level <  0.2 multiple of medians (MoM), the prevalence of common abnormalities was 12.2, 64.7, 25.5 and 33.8%, respectively, while that of atypical abnormalities was 1.6, 3.9, 4.2, and 7.4%, respectively. In the multivariable binary logistic regression analysis, out of these four factors, only two (increased NT and PAPP_A <  0.2 MoM) were significant predictors of common and atypical abnormalities, respectively. Of all positive cFTS pregnancies, 50.4% did not have any of these four factors, and the prevalence of common and atypical abnormalities was 1.1 and 0.6%, respectively. There were three atypical abnormalities, all of which were mosaicism, and they were detected among women with IPD alone. The ages of these women were ≥ 35 years. All three pregnancies were continued after proper counseling. After giving birth, only one child had mild abnormalities, while the other two were phenotypically normal. Conclusions: Our study identified factors associated with common and atypical abnormalities after cFTS. These factors can be used to estimate the prior risk for these abnormalities to help with post-cFTS counseling in terms of choosing between cfDNA testing and IPD.
Persistent Identifierhttp://hdl.handle.net/10722/277775
ISSN
2018 Impact Factor: 2.413
2015 SCImago Journal Rankings: 1.397
PubMed Central ID

 

DC FieldValueLanguage
dc.contributor.authorMak, A-
dc.contributor.authorLee, H-
dc.contributor.authorPoon, CF-
dc.contributor.authorMa, SL-
dc.contributor.authorMa, T-
dc.contributor.authorChan, KYK-
dc.contributor.authorKan, A-
dc.contributor.authorTang, M-
dc.contributor.authorLeung, KY-
dc.date.accessioned2019-10-04T08:01:07Z-
dc.date.available2019-10-04T08:01:07Z-
dc.date.issued2019-
dc.identifier.citationBMC Pregnancy and Childbirth, 2019, v. 19, p. article no. 55-
dc.identifier.issn1471-2393-
dc.identifier.urihttp://hdl.handle.net/10722/277775-
dc.description.abstractBackground: When cell-free DNA (cfDNA) testing is used as a secondary screening tool following combined first-trimester screening (cFTS), cFTS is used to estimate the prior risk for chromosome abnormalities. This study aimed to assess the factors that are associated with common and atypical abnormalities following cFTS, including cFTS risk, advanced maternal age, increased nuchal translucency (NT) ≥3.5 mm, and abnormal levels of serum markers. Methods: We reviewed a historical cohort of 1855 Chinese women carrying singleton pregnancies with a positive cFTS [at a threshold of 1:250 for trisomy (T) 21 or 1:180 for T18] in one public hospital over a five-year period. All chromosome abnormalities were confirmed by invasive prenatal diagnosis (IPD) with karyotyping, with or without array comparative genomic hybridization. Using multivariable binary logistic regression analysis, we determined the parameters that were associated with common and atypical abnormalities. Results: Overall, the prevalence of common and atypical abnormalities was 6.2 and 1.2%, respectively, and the prevalence increased with the risk of T21 by cFTS. In pregnancies with a risk of T21 > 1 in 100, a high risk of both T21 and T18, an increased NT, or a pregnancy-associated plasma A (PAPP-A) level <  0.2 multiple of medians (MoM), the prevalence of common abnormalities was 12.2, 64.7, 25.5 and 33.8%, respectively, while that of atypical abnormalities was 1.6, 3.9, 4.2, and 7.4%, respectively. In the multivariable binary logistic regression analysis, out of these four factors, only two (increased NT and PAPP_A <  0.2 MoM) were significant predictors of common and atypical abnormalities, respectively. Of all positive cFTS pregnancies, 50.4% did not have any of these four factors, and the prevalence of common and atypical abnormalities was 1.1 and 0.6%, respectively. There were three atypical abnormalities, all of which were mosaicism, and they were detected among women with IPD alone. The ages of these women were ≥ 35 years. All three pregnancies were continued after proper counseling. After giving birth, only one child had mild abnormalities, while the other two were phenotypically normal. Conclusions: Our study identified factors associated with common and atypical abnormalities after cFTS. These factors can be used to estimate the prior risk for these abnormalities to help with post-cFTS counseling in terms of choosing between cfDNA testing and IPD.-
dc.languageeng-
dc.publisherBioMed Central Ltd. The Journal's web site is located at http://www.biomedcentral.com/bmcpregnancychildbirth/-
dc.relation.ispartofBMC Pregnancy and Childbirth-
dc.rightsBMC Pregnancy and Childbirth. Copyright © BioMed Central Ltd.-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.subjectCell-free DNA screening-
dc.subjectNon-invasive prenatal testing-
dc.subjectRisk of atypical aneuploidies-
dc.subjectDetection rate-
dc.subjectAneuploidy screening-
dc.titleFactors associated with common and atypical chromosome abnormalities after positive combined first-trimester screening in Chinese women: a retrospective cohort study-
dc.typeArticle-
dc.identifier.emailMak, A: makasl@HKUCC-COM.hku.hk-
dc.identifier.emailMa, T: mawlt@hku.hk-
dc.identifier.emailChan, KYK: ykchanc@hku.hk-
dc.identifier.emailKan, A: kansya@hkucc.hku.hk-
dc.identifier.emailTang, M: mhytang@hkucc.hku.hk-
dc.identifier.emailLeung, KY: leungkyb@hkucc.hku.hk-
dc.identifier.authorityChan, KYK=rp00453-
dc.identifier.authorityTang, M=rp01701-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1186/s12884-019-2205-y-
dc.identifier.pmid30717698-
dc.identifier.pmcidPMC6360741-
dc.identifier.scopuseid_2-s2.0-85061154422-
dc.identifier.hkuros306754-
dc.identifier.volume19-
dc.identifier.spagearticle no. 55-
dc.identifier.epagearticle no. 55-
dc.publisher.placeUnited Kingdom-

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