Academic Journal
Factors associated with common and atypical chromosome abnormalities after positive combined first-trimester screening in Chinese women: a retrospective cohort study
| العنوان: | Factors associated with common and atypical chromosome abnormalities after positive combined first-trimester screening in Chinese women: a retrospective cohort study |
|---|---|
| المؤلفون: | Annisa Mak, Helena Lee, C. F. Poon, S. L. Kwok, Teresa Ma, K. Y. K. Chan, Anita Kan, Mary Tang, K. Y. Leung |
| المصدر: | BMC Pregnancy and Childbirth, Vol 19, Iss 1, Pp 1-8 (2019) |
| بيانات النشر: | BMC, 2019. |
| سنة النشر: | 2019 |
| المجموعة: | LCC:Gynecology and obstetrics |
| مصطلحات موضوعية: | Cell-free DNA screening, Non-invasive prenatal testing, Risk of atypical aneuploidies, Detection rate, Aneuploidy screening, Down syndrome, Gynecology and obstetrics, RG1-991 |
| الوصف: | Abstract Background 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 |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1471-2393 |
| Relation: | http://link.springer.com/article/10.1186/s12884-019-2205-y; https://doaj.org/toc/1471-2393 |
| DOI: | 10.1186/s12884-019-2205-y |
| URL الوصول: | https://doaj.org/article/5f2b0eb3eb774f4ebe9d67903798c7e4 |
| رقم الانضمام: | edsdoj.5f2b0eb3eb774f4ebe9d67903798c7e4 |
| قاعدة البيانات: | Directory of Open Access Journals |
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