June 2017

Risk estimates of recurrent congenital anomalies in the UK: a population-based register study 

BMC Medicine (2017) 15:20

This study from North England, UK over 1985–2010 included 872,493 singleton stillbirths, live births and terminations of pregnancy for fetal anomaly. For women whose first pregnancy was affected by congenital anomaly, the absolute risk of recurrent congenital anomaly in the second pregnancy was ~1 in 25 (2.5 times higher than for those with unaffected first pregnancies). This reassuring news for women whose first pregnancy was affected by a congenital anomaly and who are planning a further pregnancy.

 

Primary maternal cytomegalovirus infections: accuracy of fetal ultrasound for predicting sequelae in offspring 

Am J Obstet Gynecol 2016;215:638.e1-8.

How accurate is fetal ultrasound for predicting sequelae in babies following maternal cytomegalovirus infection? An analysis of 67 patients with proven vertical transmission found fetal ultrasound anomalies in 37.7% of babies which was confirmed in 73.9% postnatally. Postnatal clinical evaluation also detected CMV-related anomalies in 55% of infants with normal fetal ultrasound evaluations.

 

Prevalence of microcephaly in an Australian population-based birth defects register, 1980-2015 

Med J Aust. 2017 206(8):351-356.

Microcephaly cases defined as occipito-frontal head circumference below the third percentile or more than two standard deviations below the sex- and age-appropriate mean were ascertained by the WA Register of Developmental Anomalies, 1980-2015. In that time, 416 cases were identified, 5.5 per 10 000 births, or 1 in 1830 births. There was no significant temporal trend in prevalence. Most cases were liveborn (93.5%), and 80% had other major birth defects. Prevalence was higher in Aboriginal births (PR, 4.5). The most frequent known cause of microcephaly in Aboriginal births was fetal alcohol spectrum disorder; while monogenic chromosomal were the most common causes in non-Aboriginal births.