Objective To assess incidence, case fatality rate, risk factors and substandard care in severe maternal morbidity in the Netherlands.Design Prospective population-based cohort study.Setting All 98 maternity units in the Netherlands.Population All pregnant women in the Netherlands.Methods Cases of severe maternal morbidity were collected during a 2-year period. All pregnant women in the Netherlands in the same period acted as reference cohort (n = 371 021). As immigrant women are disproportionately represented in Dutch maternal mortality statistics, special attention was paid to the ethnic background. In a subset of 2.5% of women, substandard care was assessed through clinical audit.Main outcome measures Incidence, case fatality rates, possible risk factors and substandard care.Results Severe maternal morbidity was reported in 2552 women, giving an overall incidence of 7.1 per 1000 deliveries. Intensive care unit admission was reported in 847 women (incidence 2.4 per 1000), uterine rupture in 218 women (incidence 6.1/10 000), eclampsia in 222 women (incidence 6.2/10 000) and major obstetric haemorrhage in 1606 women (incidence 4.5 per 1000). Non-Western immigrant women had a 1.3-fold increased risk of severe maternal morbidity (95% CI 1.2-1.5) when compared with Western women. Overall case fatality rate was 1 in 53. Substandard care was found in 39 of a subset of 63 women (62%) through clinical audit.Conclusions Severe maternal morbidity complicates at least 0.71% of all pregnancies in the Netherlands, immigrant women experiencing an increased risk. Since substandard care was found in the majority of assessed cases, reduction of severe maternal morbidity seems a mandatory challenge.Keywords Ethnicity, incidence, maternal mortality, nationwide, risk factors, severe maternal morbidity, substandard care.Please cite this paper as: Zwart J, Richters J, Ö ry F, de Vries J, Bloemenkamp K, van Roosmalen J. Severe maternal morbidity during pregnancy, delivery and puerperium in the Netherlands: a nationwide population-based study of 371 000 pregnancies. BJOG 2008;115:842-850.
Fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. FADS can result from mutations in CHRNG, CHRNA1, CHRND, DOK7 and RAPSN; however, these genes only account for a minority of cases. Here we identify MUSK as a novel cause of lethal FADS. Fourteen affected fetuses from a Dutch genetic isolate were traced back to common ancestors 11 generations ago. Homozygosity mapping in two fetuses revealed MUSK as a candidate gene. All tested cases carried an identical homozygous variant c.1724T>C; p.(Ile575Thr) in the intracellular domain of MUSK. The carrier frequency in the genetic isolate was 8%, exclusively found in heterozygous carriers. Consistent with the established role of MUSK as a tyrosine kinase that orchestrates neuromuscular synaptogenesis, the fetal myopathy was accompanied by impaired acetylcholine receptor clustering and reduced tyrosine kinase activity at motor nerve endings. A functional assay in myocytes derived from human fetuses confirmed that the variant blocks MUSK-dependent motor endplate formation. Taken together, the results strongly support a causal role of this founder mutation in MUSK, further expanding the gene set associated with FADS and offering new opportunities for prenatal genetic testing.
Objective
The diagnosis of fetal akinesia deformation sequence (FADS) is a challenge. Motor assessment is of additional value to advanced ultrasound examinations (AUE) for in utero FADS diagnosis before 24 weeks of gestation.
Methods
All consecutive fetuses with greater than or equal to two contractures on the 20 week structural anomaly scan (2007–2016) were included. Findings at AUE, including motor assessment were analysed and related to outcome.
Results
Sixty‐six fetuses fulfilled the inclusion criteria. On the basis of the first AUE, FADS was suspected in 13 of 66, arthrogryposis multiplex congenita (AMC) in 12 of 66, bilateral pes equinovares (BPEV) in 40 of 66, and Holt‐Oram syndrome in one of 66. On the basis of the first motor assessment, the suspected diagnosis changed in 19 of 66, in 13 of 66 worsening to FADS, six of 66 amelioration from FADS, and confirmed FADS in seven of 13. The result was 20 FADS, seven AMC, and 38 BPEV. Second AUE in 44 fetuses showed additional contractures in two of eight FADS, and one intrauterine fetal death (IUFD). The second motor assessment changed the diagnosis in three of 43, one worsening from BPEV into FADS, two ameliorations from FADS, and confirmed FADS in seven by deterioration of motility. The result was nine FADS, six AMC, and 29 BPEV.
Conclusion
The results suggest that motor assessment has additional value to distinguish between FADS, AMC, and BPEV.
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