First case of desmosterolosis diagnosed by prenatal whole exome sequencing.

Desmosterolosis is a rare autosomal recessive disorder of cholesterol biosynthesis resulting in multiple congenital abnormalities and syndromic intellectual disability. It is caused by defects in DHCR24, the gene encoding 3-β-hydroxysterol-24-reductase (24-dehydrocholesterol reductase), which acts in conversion of cholesterol precursor desmosterol, hence resulting in elevated plasma desmosterol levels. To date, desmosterolosis has been reported in 10 patients.

Tailoring the response to COVID-19: experiences of an inner city maternity unit with a virtual patient surveillance approach.

This study outlines the characteristics and outcomes of pregnant women with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). We present the success of our 'COVID Surveillance Team' - a dedicated team of midwives and medics that regularly contact patients, identifying early any need for escalation of care. Data were collected prospectively from March to September 2020.

Placenta accreta spectrum disorders - detection rate and maternal outcomes following implementation of an institutional protocol.

Placenta accreta spectrum (PAS) disorders have been on the rise in recent years with increasing caesarean rates. The purpose of this prospective observational study was to describe our detection rates and to review outcomes in PAS after the introduction of an institutional screening and management protocol. Twenty-one patients with suspected PAS over 5 years were identified.