Background Several inherited metabolic diseases are underreported in Vietnam, namely glucose‐6‐phosphate dehydrogenase deficiency (G6PDd), phenylketonuria (PKU) and galactosemia (GAL). Whilst massively parallel sequencing (MPS) allows researchers to screen several loci simultaneously for pathogenic variants, no screening programme uses MPS to uncover the variant spectra of these diseases in the Vietnamese population. Methods Pregnant women (mean age of 32) from across Vietnam attending routine prenatal health checks agreed to participate and had their blood drawn. MPS was used to detect variants in their G6PD, PAH and GALT genes. Results Of 3259 women screened across Vietnam, 450 (13.8%) carried disease‐associated variants for G6PD, PAH and GALT. The prevalence of carriers was 8.9% (291 of 3259) in G6PD and 4.6% (152 of 3259) in PKU, whilst GAL was low at 0.2% (7 of 3259). Two GALT variants, c.593 T > C and c.1034C > A, have rarely been reported. Conclusion This study highlights the need for routine carrier screening, where women give blood whilst receiving routine prenatal care, in Vietnam. The use of MPS is suitable for screening multiple variants, allowing for identifying rare pathogenic variants. The data from our study will inform policymakers in constructing cost‐effective genetic metabolic carrier screening programmes.
Background: which method of the expulsion of intrauterine fetal death and fetal anomaly in second trimester is effective, safe, and suitable for pregnant women. Objectives: to evaluate the effectiveness of oral misoprostol and vaginal misoprostol for intrauterine fetal death and fetal anomaly in second trimester pregnancy termination. Materials and Methods: a clinical trial in 108 women experiencing intrauterine fetal death and fetal anomaly during the second trimester in the obstetric department, Can Tho central general hospital in 2014. Excluded criteria: multiple pregnancies, uterus cesarean section scar, and misoprostol contraindication. Intervention: randomized division into two groups: group 1: misoprostol oral, group 2: vaginal misoprostol; dosage as recommended by FIGO. Success was defined as a complete and natural fetal and placenta expulsion without dilation and curettage or other treatment; and healthy hospital discharge. Results: the success rate of group 1 was 75.9%; group 2 was 83.3%. The success rates for fetal conditions of intrauterine fetal death were 74.6%, and the fetal anomaly was 86.7%. In group 1, the success rate in intrauterine fetal death was 63%, fetal anomaly was 88.9%. In group 2, the success rate in intrauterine fetal death was 81.3% and fetal anomaly was 86.4%. The rate of expulsion in the first 24 hours was 78.1% in group 1; 88.9% in group 2, which was not different statistically. Some side effects encountered in the study such as headache, nausea, diarrhea, fever/chills, rash were mainly seen in the oral misoprostol group; all side effects and complications were mild and transient. Related factors to complete expulsion in both groups were gestational age, parity, and fetal conditions. Conclusion: vaginal misoprostol has the same effectiveness and fewer complications than oral misoprostol.
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