Characteristics of Maternal Mortality Missed by Vital Statistics in Hong Kong, 2000-2019.

Importance: Reducing maternal mortality is a global objective. The maternal mortality ratio (MMR) is low in Hong Kong, China, but there has been no local confidential enquiry into maternal death, and underreporting is likely. Objective: To determine the causes and timing of maternal death in Hong Kong and identify deaths and their causes that were missed by the Hong Kong vital statistics database. Design, Setting, and Participants: This cross-sectional study was conducted among all 8 public maternity hospitals in Hong Kong. Maternal deaths were identified using prespecified search criteria, including a registered delivery episode between 2000 to 2019 and a registered death episode within 365 days after delivery. Cases as reported by the vital statistics were then compared with the deaths found in the hospital-based cohort. Data were analyzed from June to July 2022. Main Outcomes and Measures: The outcomes of interest were maternal mortality, defined as death during pregnancy or within 42 days after ending the pregnancy, and late maternal death, defined as death more than 42 days but less than 1 year after end of the pregnancy. Results: A total of 173 maternal deaths (median [IQR] age at childbirth, 33 [29-36] years) were found, including 74 maternal mortality events (45 direct deaths and 29 indirect deaths) and 99 late maternal deaths. Of 173 maternal deaths, 66 women (38.2%) of individuals had preexisting medical conditions. For maternal mortality, the MMR ranged from 1.63 to 16.78 deaths per 100 000 live births. Suicide was the leading cause of direct death (15 of 45 deaths [33.3%]). Stroke and cancer deaths were the most common causes of indirect death (8 of 29 deaths [27.6%] each). A total of 63 individuals (85.1%) died during the postpartum period. In the theme-based approach analysis, the leading causes of death were suicide (15 of 74 deaths [20.3%]) and hypertensive disorders (10 of 74 deaths [13.5%]). The vital statistics in Hong Kong missed 67 maternal mortality events (90.5%). All suicides and amniotic fluid embolisms, 90.0% of hypertensive disorders, 50.0% of obstetric hemorrhages, and 96.6% of indirect deaths were missed by the vital statistics. The late maternal death ratio ranged from 0 to 16.36 deaths per 100 000 live births. The leading causes of late maternal death were cancer (40 of 99 deaths [40.4%]) and suicide (22 of 99 deaths [22.2%]). Conclusions and Relevance: In this cross-sectional study of maternal mortality in Hong Kong, suicide and hypertensive disorder were the dominant causes of death. The current vital statistics methods were unable to capture most of the maternal mortality events found in this hospital-based cohort. Adding a pregnancy checkbox to death certificates and setting up a confidential enquiry into maternal death could be possible solutions to reveal the hidden deaths.

The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes.

BACKGROUND: Autosomal recessive or compound heterozygous mutations in KLHL40 cause nemaline myopathy 8, which is one of the most severe forms of nemaline myopathy. The KLHL40 c.1516A>C variant has recently been reported as a founder mutation in southern Chinese. METHODS: We report six cases of nemaline myopathy 8 which involves the c.1516A>C variant, from five unrelated families of non-consanguineous southern Chinese. The pre- and postnatal phenotypes of these cases were reviewed with emphasis on prenatal clinical features. Genetic testing for the founder mutation was performed on three patients with homozygous mutations. RESULTS: Common prenatal features included reduced fetal movement, polyhydramnios, breech presentation, and clubfeet. Two pregnancies were terminated. Four live-born patients had postnatal features typical of nemaline myopathy 8. The length of survival ranged from 49 days to 17 months, with respiratory failure and infections being the principal causes of death. Haplotype analysis in three patients with homozygous mutation showed a shared haplotype block of 1.1727 cM spanning over the c.1516A>C variant, suggesting it is a southern Chinese-specific founder mutation. CONCLUSION: Analysis of the KLHL40 c.1516A>C variant should be considered in prenatal diagnosis of Chinese pregnant patients with suspected congenital neuromuscular disorders or with significant family history of congenital myopathies.

Outcome of pregnancy with new onset proteinuria and progression to pre-eclampsia: A retrospective analysis.

OBJECTIVE: To examine maternal and neonatal outcomes of gestational proteinuria, and to identify maternal characteristics for progression to pre-eclampsia. STUDY DESIGN: Retrospective cohort. Included all pregnant women who delivered between Jan 2014-Feb 2017 with new onset proteinuria in a single obstetric unit. Demographic, maternal and neonatal outcomes were compared. RESULTS: Eighteen (25%) out of 73 women with new onset gestational proteinuria developed pre-eclampsia. The incidence of gestational proteinuria was 0.54%. Compared with women that remained normotensive, those that developed hypertension had delivery at earlier gestation (p = .02), increased risk of fetal growth restriction (p = .01) and lower newborn birthweight (p = .002). Maximal proteinuria and fetal growth restriction were independent factors associated with development of pre-eclampsia. In particular, high proteinuria level ≥ 2 g/d constitute a major predictor for progression (p = .03). CONCLUSION: Increased vigilance for antenatal surveillance is important in women with gestational proteinuria as a substantial portion progress to pre-eclampsia. Serial growth scan and proteinuria assay are suggested to predict possible pre-eclampsia development.