Publications by authors named "Nguyen Canh Chuong"

Objectives: To determine the additional detection rate (DR) and the residual risk (RR) of combined cell-free DNA (cfDNA) screening for aneuploidies (not including copy number variants) and 25 dominant single-gene disorders (SGD) in pregnancies with sonographic abnormalities.

Method: One hundred sixteen singleton pregnant women with abnormal fetal ultrasounds from week 12 were included in the study. They underwent combined cfDNA analysis, while exome sequencing and karyotyping were performed as reference standards.

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Article Synopsis
  • This study investigates the use of copy number variation sequencing (CNV-seq) to identify chromosomal abnormalities in a diverse group of 3,776 pregnant Vietnamese women who had abnormal ultrasound results.* -
  • Out of the participants, 448 women were found to have chromosomal aberrations, with 274 exhibiting chromosomal aneuploidies and 174 having pathogenic CNVs.* -
  • The findings highlight the significance of CNV-seq in improving prenatal diagnosis and understanding fetal ultrasound anomalies, reinforcing the need for diverse participant representation in such studies.*
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Noninvasive prenatal tests for monogenic diseases (NIPT-SGG) have recently been reported as helpful in early-stage antenatal screening. Our study describes the clinical and genetic features of cases identified by NIPT-SGG. In a cohort pregnancy with abnormal sonograms, affected cases were confirmed by invasive diagnostic tests concurrently, with NIPT-SGG targeting 25 common dominant single-gene diseases.

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Over 60% of single-gene diseases in newborns are autosomal dominant variants. Noninvasive prenatal testing for monogenic conditions (NIPT-SGG) is cost-effective and timesaving, but not widely applied. This study introduces and validates NIPT-SGG in detecting 25 monogenic conditions.

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  • Vietnam has a significant thalassemia issue, with a study of 5,880 pregnant women revealing a 13.13% carrier frequency for thalassemia.
  • The breakdown of carriers included 7.82% for α-thalassemia and 5.31% for β-thalassemia, with common mutations identified in both types.
  • The study highlights the effectiveness of combining next-generation sequencing with gap-PCR for comprehensive thalassemia screening, estimating that around 5,021 babies could be born with severe thalassemia in Vietnam each year.
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  • * A new method was developed to identify female carriers of α-thalassemia using non-invasive prenatal test samples, finding that 7.76% of 68,885 Vietnamese pregnant women carried deletions related to the disorder.
  • * The approach showed high accuracy, with F1-scores between 94.74% and 99.55% for detecting various genotypes, and it suggests that using cfDNA from prenatal tests could be a cost-effective way to identify carriers of α-thalassemia.
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Background: Gender inequalities influence the utilization of maternal health services in Vietnam, but little research has been published. This study, therefore, aimed to explore the association between gender inequalities and women's utilization of maternal health services in Vietnam.

Methods: The study was conducted in 8 provinces in the South Central Coast region of Vietnam during August 2013 to May 2014.

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Background: Global progress in reducing maternal mortality requires improving access to maternal and child health services for the most vulnerable groups. This article reports results of implementation research that aimed to increase the acceptability of village-based ethnic minority midwives (EMMs) by local communities in Vietnam through implementing an integrated interventions package.

Methods: The study was carried out in 2 provinces in Vietnam, Dien Bien and Kon Tum.

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Our study aimed to identify the knowledge, attitude, and factors associated with uptake of amniocentesis test amongst pregnant women of advanced maternal age (35+ years old). A cross-sectional survey was performed on 481 participants in 2016. Women with higher educational attainment, higher income level, having a baby with congenital defects, and women with better knowledge and/or attitude about amniocentesis test were more likely to accept the test.

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This paper aims to describe a trend in coverage of maternal care services, and provides a detailed analysis of socio-economic correlations to the existing inequities. The paper uses data from the Vietnam Multiple Indicator Cluster Survey 2000, 2006, 2011, and 2014. In the MICS, there were 9,117 women in 2000, 9,473 women in 2006, 11,614 women in 2011, and 9,827 women in 2014 participated in.

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