ITU parameters were moderately correlated with station. There was constant high correlation between AOP and HPD. Prediction of TD in primiparous women using ITU parameters was similar to that of using cervical dilatation.

BackgroundAutosomal 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.MethodsWe 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.ResultsCommon 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.ConclusionAnalysis 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.

Cervical varices are a rare condition characterized by recurrent antepartum hemorrhage and less than 20 cases were reported in the literature. It is usually associated with placenta previa. We herein describe four cases of cervical varices without placenta previa. Meticulous speculum examination, ultrasonography with Doppler and colposcopy are essential for establishing the diagnosis and assessing the extent of the cervical varix. We propose to classify it as the apparent external os type or ultrasonography‐based endocervical type. Most cases presented in the literature were delivered by cesarean section. Nevertheless, one of our cases was a successful vaginal delivery. Our case illustrates that vaginal delivery is possible in isolated cervical varices. More case reports are needed to have a better understanding of this rare entity.

Microcephaly and microphthalmia are both rare congenital abnormalities, while concurrently, these two are even rarer. The underlying etiology would be complex interplaying between heterogeneous genetic background and the environmental pathogens, particularly during critical periods of early tissue development. Here, we reported a prenatal case with microcephaly, microphthalmia, and bilateral cataracts detected by ultrasonography and confirmed by autopsy. Various routine infection-related tests and invasive genetic testing were negative. Whole genome sequencing of fetus and parents revealed OCLN gene defects may be associated with these multiple congenital abnormalities.