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The Necessity of Prenatal Diagnosis by CMA for the Women with NIPS-Positive Results.

ABSTRACT: Objective:To retrospectively analyze the results of prenatal diagnoses of noninvasive prenatal screening- (NIPS) positive pregnant women and discuss whether there is a need for chromosomal microarray analysis (CMA). Methods:The study recruited 1,019 NIPS-positive women from two prenatal diagnostic centers. Based on clinical advice, they opted for traditional karyotype analysis or CMA. Single nucleotide polymorphism array testing was performed on a commercial 750K microarray chip (Affymetrix CytoScan 750K Array). Results:Of the NIPS-positive women, 761 (74.7%) accepted the prenatal diagnosis. There were 418 (54.9%) abnormal results, and most (99.5%) were chromosome aneuploidy or structural abnormalities. Only three cases were confirmed as pathogenic copy number variation (CNVs), which were found only with CMA and not by karyotype analysis. Fifteen women were variants of uncertain significance (VUS) CNV. In addition, 300 women selected opted for both karyotype analysis and CMA for prenatal diagnosis: in 275 (91.7%) cases, the results of the two modalities were consistent, while in the remaining 25, they were not. In three cases, the additional positive results obtained with CMA were potentially clinically significant. Conclusions:CMA may not be useful for many women positive for trisomy 21/18/13 based on NIPS results, because traditional karyotype analysis can identify most problems. However, it can yield important additional findings in women positive for fetal sex chromosome aneuploidy (SCA). Further clinical studies are needed to confirm these findings.

SUBMITTER: Xu J

PROVIDER: S-EPMC7481948 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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The Necessity of Prenatal Diagnosis by CMA for the Women with NIPS-Positive Results.

Xu Jun J Xue Ying Y Wang Jing J Zhou Qin Q Zhang Bin B Yu Bin B Wang Ting T

International journal of genomics 20200829

<h4>Objective</h4>To retrospectively analyze the results of prenatal diagnoses of noninvasive prenatal screening- (NIPS) positive pregnant women and discuss whether there is a need for chromosomal microarray analysis (CMA).<h4>Methods</h4>The study recruited 1,019 NIPS-positive women from two prenatal diagnostic centers. Based on clinical advice, they opted for traditional karyotype analysis or CMA. Single nucleotide polymorphism array testing was performed on a commercial 750K microarray chip ( ...[more]

PMID: 32953872

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Project description:BackgroundScreening for violence during pregnancy is one of the strategies for the prevention of abuse against women. Since violence is difficult to measure, it is necessary to validate questionnaires that can provide a good measure of the phenomenon. The present study analyzed the psychometric properties of the World Health Organization Violence Against Women (WHO VAW) instrument for the measurement of violence against pregnant women.MethodsData from the Brazilian Ribeirão Preto and São Luís birth cohort studies (BRISA) were used. The sample consisted of 1,446 pregnant women from São Luís and 1,378 from Ribeirão Preto, interviewed in 2010 and 2011. Thirteen variables were selected from a self-applied questionnaire. Confirmatory factor analysis was used to investigate whether violence is a uni-or-multidimensional construct consisting of psychological, physical and sexual dimensions. The mean-and-variance-adjusted weighted least squares estimator was used. Models were fitted separately for each city and a third model combining data from the two settings was also tested. Models suggested from modification indices were tested to determine whether changes in the WHO VAW model would produce a better fit.ResultsThe unidimensional model did not show good fit (Root mean square error of approximation [RMSEA] ?= 0.060, p < 0.001 for the combined model). The multidimensional WHO VAW model showed good fit (RMSEA = 0.036, p = 0.999 for the combined model) and standardized factor loadings higher than 0.70, except for the sexual dimension for SL (0.65). The models suggested by the modification indices with cross loadings measuring simultaneously physical and psychological violence showed a significantly better fit compared to the original WHO model (p < 0.001 for the difference between the model chi-squares).ConclusionsViolence is a multidimensional second-order construct consisting of psychological, physical and sexual dimensions. The WHO VAW model and the modified models are suitable for measuring violence against pregnant women.

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The Necessity of Prenatal Diagnosis by CMA for the Women with NIPS-Positive Results.

Publications

The Necessity of Prenatal Diagnosis by CMA for the Women with NIPS-Positive Results.

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