Prenatal exome sequencing: A useful tool for the fetal neurologist.

Prenatal exome sequencing (pES) is a promising tool for diagnosing genetic disorders when structural anomalies are detected on prenatal ultrasound. The aim of this study was to investigate the diagnostic yield and clinical impact of pES as an additional modality for fetal neurologists who counsel parents in case of congenital anomalies of the central nervous system (CNS). We assessed 20 pregnancies of 19 couples who were consecutively referred to the fetal neurologist for CNS anomalies. pES had a diagnostic yield of 53% (10/19) with most diagnosed pregnancies having agenesis or hypoplasia of the corpus callosum (7/10). Overall clinical impact was 63% (12/19), of which the pES result aided parental decision making in 55% of cases (6/11), guided perinatal management in 75% of cases (3/4), and was helpful in approving a late termination of pregnancy request in 75% of cases (3/4). Our data suggest that pES had a high diagnostic yield when CNS anomalies are present, although this study is limited by its small sample size. Moreover, pES had substantial clinical impact, which warrants implementation of pES in the routine care of the fetal neurologist in close collaboration with gynecologists and clinical geneticists.

Compliance with maternal sepsis guidelines in a tertiary hospital in the Netherlands.

OBJECTIVES: Sepsis is a common cause of maternal mortality and morbidity. Early detection and rapid management are essential. In this study, we evaluate the compliance with the implemented maternity-specific Early Warning Score (EWS), Rapid Response Team (RRT) protocol and the Surviving Sepsis Campaign (SSC) Hour-1 Bundle in a tertiary hospital in the Netherlands. METHODS: We performed a retrospective patient chart review from July 2019 to June 2020 at the Leiden University Medical Centre. We included women who received therapeutic antibiotics and were admitted for at least 24 hours. RESULTS: We included 240 women: ten were admitted twice and one woman three times, comprising 252 admissions. A clinical diagnosis of sepsis was made in 22 women. The EWS was used in 29% (n = 73/252) of admissions. Recommendations on the follow-up of the EWS were carried out in 53% (n = 46/87). Compliance with the RRT protocol was highest for assessment by a medical doctor within 30 minutes (n = 98/117, 84%) and lowest for RRT involvement (n = 7/23, 30%). In women with sepsis, compliance with the SSC Bundle was highest for acquiring blood cultures (n = 19/22, 85%), while only 64% (n = 14/22) received antibiotics within 60 minutes of the sepsis diagnosis. CONCLUSION: The adherence to the maternity-specific EWS and the SSC Hour-1 bundle was insufficient, even within this tertiary setting in a high-income country.