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Vietnam ratified the United Nations Convention on the Rights of Persons with Disabilities (CRPD) in 2015, signalling a commitment to the basic human rights of citizens with disabilities. Previous research has shown people with disabilities in Vietnam to be marginalised in society, often with limited educational or work opportunity, and with limited financial means. Using in-depth semi-structured interviews conducted in Vietnam and a thematic analysis approach to data interpretation, this article examines the current status of people with disabilities in Vietnam in relation to the core elements of the CRPD, from the perspectives of people with disabilities, their families, and professionals who support them. Findings suggest that, while Vietnamese society has made strides supporting people with disabilities, work remains to be done for the country to comply with the CRPD's core principles. Suggestions for future action are offered, including ways to support human rights of people with disabilities within cultural contexts.

Background: De novo variations are a primary cause of Rett syndrome and Tubulinopathy, accounting for over 90% of cases. Some studies have identified and documented parental inheritance by mosaicism in these two disorders, albeit with limited data. Methods: Clinical characteristics and diagnosis, including genetic tests of members of two families, were obtained from medical reports. Results: The first family with Rett syndrome (RTT) presented with two offspring carrying FOXG1 c.460dup. Both affected RTT pregnancies did not show anomalies within the first trimester, preventing prenatal recognition at an early stage. The second family had two of three offspring confirmed with TUBA1A c.172G>A related to Tubulinopathy. Both young couples from the two families harbored none of the variants correlating to their children's conditions. Diagnosis of parental mosaics with higher rates of recurrence was reasonably determined, and genetic counseling played a major role in guiding and managing their subsequent pregnancies. Conclusion: In genetic disorders with a high penetration of de novo variants, the risk of having a recurrent baby is an important topic to discuss with affected families. By examining variants that siblings share, clinical diagnosis can offer valuable information about the presence of mosaic inheritance. To effectively manage in the long term, adequate genetic counseling and strategic planning for future pregnancies should be emphasized to mitigate the risk of recurrent offspring. [ABSTRACT FROM AUTHOR]

Background: Copy number variation sequencing (CNV-seq) is a powerful tool to discover structural genomic variation, but limitations associated with its retrospective study design and inadequate diversity of participants can be impractical for clinical application. Aim: This study aims to use CNV-seq to assess chromosomal aberrations in pregnant Vietnamese women. Materials & methods: A large-scale study was conducted on 3776 pregnant Vietnamese women with abnormal ultrasound findings. Results: Chromosomal aberrations were found in 448 (11.86%) women. Of these, 274 (7.26%) had chromosomal aneuploidies and 174 (4.61%) carried pathogenic/likely pathogenic CNVs. Correlations were established between chromosomal aberrations and various phenotypic markers. Conclusion: This comprehensive clinical study illuminates the pivotal role of CNV-seq in prenatal diagnosis for pregnancies featuring fetal ultrasound anomalies. Summary points Main topics In this study, we conducted a large clinical study of 3776 pregnant Vietnamese women to assess chromosomal aberrations using copy number variation sequencing (CNV-seq). Results Among 3776 pregnant women with abnormal ultrasound findings, 448 (11.86%) had chromosomal aberrations. Out of these cases, 274 (7.26%) were found to have chromosomal aneuploidies while 174 (4.61%) carried pathogenic/likely pathogenic CNVs. Moreover, our analysis established correlations between chromosomal aberrations and various phenotypic markers. Conclusion This comprehensive clinical study illuminates the pivotal role of CNV-seq in prenatal diagnosis for pregnancies featuring fetal ultrasound anomalies. [ABSTRACT FROM AUTHOR]

Background: 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. Methods: NIPT-SGG with a 30-gene panel applied next-generation sequencing and trio assays to confirm de novo variants. Diagnostic tests confirmed NIPT-detected cases. Results: Among 93 pregnancies with ultrasound findings, 11 (11.8%) fetuses were screened and diagnosed with monogenic diseases, mostly with Noonan syndrome. NIPT-SGG determined >99.99% of actual positive and negative cases, confirmed by diagnostic tests. No false-negatives or false-positives were reported. Conclusion: NIPT-SGG effectively identifies the fetuses affected with monogenic diseases, which is a promisingly safe and timely antenatal screening option for high-risk pregnancies. [ABSTRACT FROM AUTHOR]

To demonstrate the prevalence of maternal mosaic monosomy X (MMXO) in a cohort of pregnant women in Vietnam. All 105,594 singleton pregnant women undergoing noninvasive prenatal screening (NIPS) between January 2019 and February 2021 in Vietnam were analyzed by measuring discordance between size- and count-based z-scores for chromosome X (ChrX) to identify suspected cases of MMXO and validated by fluorescence in situ hybridization (FISH) on maternal blood. We identified 295 (0.279%) suspected MMXO cases. After FISH analysis, MMXO was confirmed in 125 cases (42.37%), revealing the MMXO prevalence of 0.118% (95% CI: 0.097–0.139%) in this cohort. We found a relatively high prevalence of MMXO in Vietnamese pregnant women and demonstrated a strong influence of MMXO on the ChrX z-score using a count-based method, resulting in false positives. The size-based method is not sensitive to MMXO and therefore achieves higher PPV. [ABSTRACT FROM AUTHOR]

Objective  This study aimed to examine the effects of interpregnancy weight change on pregnancy outcomes, including recurrent preeclampsia, preterm birth, small-for-gestational age (SGA), large-for-gestational age (LGA), and cesarean delivery, among women with a history of preeclampsia. We also evaluated whether these associations were modified by prepregnancy body mass index (BMI) category in the first pregnancy (BMI < 25 vs. ≥25 kg/m 2) and if associations were present among women who maintained a healthy BMI category in both pregnancies. Study Design  We conducted a population-based retrospective cohort study including 15,108 women who delivered their first two nonanomalous singleton live births in Missouri (1989–2005) and experienced preeclampsia in the first pregnancy. We performed Poisson regression with robust error variance to estimate relative risks and 95% confidence intervals for outcomes of interest after controlling for potential confounders. Results  Interpregnancy weight gain was associated with increased risk of recurrent preeclampsia, LGA, and cesarean delivery. These risks increased in a "dose–response" manner with increasing magnitude of interpregnancy weight gain and were generally more pronounced among women who were underweight or normal weight in the first pregnancy. Interpregnancy weight loss exceeding 1 BMI unit was associated with increased risk of SGA among underweight and normal weight women, while interpregnancy weight loss exceeding 2 BMI units was associated with reduced risk of recurrent preeclampsia among overweight and obese women. Conclusion  Even small changes in interpregnancy weight may significantly affect pregnancy outcomes among formerly preeclamptic women. Appropriate weight management between pregnancies has the potential to attenuate such risks. Key Points Interpregnancy weight change among formerly preeclamptic women significantly affects pregnancy outcomes. Interpregnancy weight gain is associated with increased risk of recurrent preeclampsia, large-for-gestational-age and cesarean delivery. Interpregnancy weight loss is associated with increased risk of small-for-gestational age and recurrent preeclampsia. [ABSTRACT FROM AUTHOR]

Background: For women who suffer from abruption in the first pregnancy, the extent to which birth spacing has an impact on maternal and fetal outcomes in a second pregnancy remains unclear.Objectives: To examine the effect of interpregnancy interval (IPI) after a first pregnancy complicated by placental abruption, on adverse maternal and fetal outcomes in a subsequent pregnancy.Study design: This was a population-based retrospective cohort study using maternally-linked Missouri birth registry from 1989 to 2005 (n = 2069). Exposure of interest was IPI and outcomes were placental abruption, preeclampsia, preterm birth, small for gestational age, cesarean delivery, and neonatal plus fetal deaths (neofetal death) in a second pregnancy. Logistic regressions were used to assess the association between IPI and the outcomes.Results: Compared with women with an IPI of 1-2 years, those with short IPI (<1 year) were more likely to experience preterm birth (aOR 3.01, 95% CI 1.71-5.28) and neonatal death (aOR 3.52, 95% CI 1.24-10.02) in their subsequent pregnancy. No significant associations between IPI and recurrent placental abruption or preeclampsia were detected.Conclusions: Women who become pregnant in less than a year's time of an initial placental abruption are at increased risk for preterm birth and neofetal death in a subsequent pregnancy. Other ischemic placental disease conditions are also shown to have serious health implications for a woman's next pregnancy. [ABSTRACT FROM AUTHOR]

A cluster of cefepime-induced neutropenia (CIN) was identified from June 2017 to May 2018 in a regional outpatient parenteral antimicrobial therapy population. Our data suggest prolonged courses of cefepime (≥2 weeks), administered by rapid intravenous push, were associated with a higher risk of CIN. [ABSTRACT FROM AUTHOR]