Australian Birth Defects Society

A Society devoted to the study of birth defects

Quick round-up of interesting articles that have passed my desk this month.

Journal Club

August 2017

June 2017

Page updated 5 October 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.


Risk of major congenital malformations in relation to maternal overweight and obesity severity: cohort study of 1.2 million singletons.

BMJ (2017) 357:j2563

BMI was measured at first prenatal visit and classified into groups and risk of major congenital malformations ascertained at 1 year. Compared with offspring of normal weight mothers (risk of malformations 3.4%), the proportions and adjusted risk ratios of any major congenital malformation among the offspring of mothers with higher BMI were: overweight (BMI 25-30) was 3.5% and 1.05 (95% confidence CI 1.02 to 1.07); BMI 30-35, 3.8% and 1.12 (1.08 to 1.15), BMI 35-40 4.2% and 1.23 (1.17 to 1.30), and BMI >40, 4.7% and 1.37 (1.26 to 1.49).  The greatest risk was associated with CNS malformations. (BMI >40 and 1.88 (1.2-2.94).

Bariatric Surgery in Women of Childbearing Age, Timing Between an Operation and Birth, and Associated Perinatal Complications.

JAMA Surg. (2017) 152(2):1-8.

 A retrospective cohort study including 1859 women with a history of bariatric surgery.  Infants from mother with a history of surgery had a higher risk for prematurity, NICU admission, SGA status and low Apgar score. Risk was highest when the operation to birth interval was less than a 2-years. 


Updated Etiology and Significance of Elevated Bilirubin During Pregnancy: Changes Parallel Shift in Demographics and Vaccination Status

Dig Dis Sc (2017) 62 (2):517-525

Although viral hepatitis is considered a leading cuse of elevated bilirubin, this prospective study of 80,000 deliveries found the most common cause was gallstones (25%), pre-eclampsia (24%) and intrahepatic cholestasis  (13%). Stillbirths, fetal malformations, neonatal deaths, and small for gestational age births, were more common in the women with hyperbilirubinemia during pregnancy