A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.

We report the case of a consanguineous couple who lost four pregnancies associated with skeletal dysplasia. Radiological examination of one fetus was inconclusive. Parental exome sequencing showed that both parents were heterozygous for a novel missense variant, p.

Magnetic resonance imaging of the fetus.

Fetal magnetic resonance imaging (MRI) has become established as part of clinical practice in many centres worldwide especially when visualization of the central nervous system pathology is required. In this review we summarize the recent literature and provide an overview of fetal development and the commonly encountered fetal pathologies visualized with MRI and illustrated with numerous MR images. We aim to convey the role of fetal MRI in clinical practice and its value as an additional investigation alongside ultrasound yet emphasize the need for caution when interpreting fetal MR images especially where experience is limited.

The role of cervical Electrical Impedance Spectroscopy in the prediction of the course and outcome of induced labour.

Background: Previous work by us and others had suggested that cervical electrical impedance spectroscopy (EIS) may be predictive of the outcome of induced labour. We sought to determine which probe configuration of the EIS device is predictive of the outcome of induced labour and compare this to digital assessment by the Bishop score.

Methods: In a prospective cohort of 205 women admitted for induction of labour, we used four probes of diameter 3, 6, 9 and 12 mm connected to an impedance meter to measure cervical resistivity (CR) in Ohm.

Reproducibility and repeatability of measuring the electrical impedance of the pregnant human cervix-the effect of probe size and applied pressure.

Background: The utility of cervical electrical impedance spectroscopy (EIS) as a diagnostic tool is being investigated in clinical trials. We sought to assess the reliability of two different sizes of tetrapolar probes used in measuring cervical impedance.

Methods: Cervical transfer impedance was measured at 14 frequencies between 76 and 625 000 Hz from 11 pregnant subjects at term.

The impact of mitochondrial genetics on male infertility.

Summary Human mitochondrial DNA (mtDNA) encodes 13 of the polypeptides associated with the process of oxidative phosphorylation (OXPHOS), the cells most important ATP generating pathway. Until recently, the effects of mtDNA rearrangements on male fertility have been largely ignored. However, it is becoming increasingly evident that both point mutations and large-scale deletions may have an impact on sperm motility and morphology.