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.

Proactive use of supervision.

Midwifery supervision is the 13th series of 'Midwifery basics' targeted at practising midwives. The aim of these articles is to provide information to raise awareness of the impact of the work of midwives on women's experience, and encourage midwives to seek further information through a series of activities relating to the topic. In this seventh article of the series, RachelJokhi discusses how to use statutory supervision proactively in order to gain maximum benefit.

Role of the supervisor of midwives.

Midwifery supervision is the 13th series of 'Midwifery basics' targeted at practising midwives.The aim of these articles is to provide information to raise awareness of the impact of the work of midwives on women's experience and encourage midwives to seek further information through a series of activities relating to the topic. In the second article ofthe series, Rachel Jokhi discusses the role and responsibilities of the supervisor of midwives and considers how this statutory function can support the provision of high quality care.

Antenatal depression: how midwives can help.

Pregnancy was once thought to be a protective factor against depression; yet increasingly, research suggests the changes and demands of pregnancy can impact negatively upon maternal and infant wellbeing. A recent survey of 260 women by Netmums and the Royal College of Midwives showed 80 per cent of the women who suffered from depression antenatally went on to suffer postnatal depression (Netmums/RCM 2012). Identification of women at increased risk of psychological distress is crucial to allow appropriate and timely intervention.

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.

Men with oligoasthenoteratozoospermia harbour higher numbers of multiple mitochondrial DNA deletions in their spermatozoa, but individual deletions are not indicative of overall aetiology.

It is believed that one cause of sperm dysfunction might arise through multiple mitochondrial DNA deletions (Delta mtDNA) resulting in the formation of an incomplete electron transport chain. This study investigates the incidence of multiple Delta mtDNA in human spermatozoa prepared on Percoll gradients. Firstly, we investigated for the presence of two frequently analysed Delta mtDNA, the 4977 and 7.