Fetal structural congenital abnormalities (SCAs) complicate 2–3% of all pregnancies. Whole-exome sequencing (WES) has been increasingly adopted prenatally when karyotyping and chromosomal microarray do not yield a diagnosis. This is a retrospective cohort study of 104 fetuses with SCAs identified on antenatal ultrasound in Hong Kong, where whole exome sequencing is performed. Molecular diagnosis was obtained in 25 of the 104 fetuses (24%). The highest diagnostic rate was found in fetuses with multiple SCAs (29.2%), particularly those with involvement of the cardiac and musculoskeletal systems. Variants of uncertain significance were detected in 8 out of the 104 fetuses (7.7%). Our study shows the utility of WES in the prenatal setting, and the extended use of the technology would be recommended in addition to conventional genetic workup.

Background Fear of childbirth causes significant distress and impact on women’s wellbeing. It also contributes to the rising trend of non-medically indicated Caesarean sections worldwide. The Wijma Delivery Expectancy/Experience Questionnaire (Version A) (W-DEQ-A) is a comprehensive instrument for the assessment of fear of childbirth among antenatal women. Methods Hong Kong Chinese women at the antenatal booking clinic completed the translated questionnaire, Edinburgh Postpartum Depression Scale, State-trait Anxiety Inventory and indicated their preferred mode of delivery. The validity and reliability of the translated questionnaire were analysed using Cronbach’s alpha coefficient and intraclass correlation coefficient respectively. The subscales of the questionnaire were determined using exploratory factor analysis. The relationship between demographic data, preferred mode of delivery and the W-DEQ-A score were analysed using student’s t test, Mann-Whitney test or Pearson’s correlation. Results One hundred and fifty women completed the study. The Cronbach’s alpha coefficient and test-retest reliability of the Chinese version were 0.907 and 0.867 respectively. Convergent validity was demonstrated with other psychological measures at expected levels. The mean W-DEQ-A score among the Hong Kong Chinese population is 65 out of 165, which is negatively correlated with gravidity, parity and partner support. Using a standard cut-off of 85, 11.3% women were found to suffer from fear of childbirth and it is associated with a history of psychiatric history. 72% and 22.7% women preferred vaginal delivery and Caesarean section respectively. Nulliparous women who preferred a vaginal delivery have a significantly lower score than those who preferred a Caesarean section, with mean (SD) W-DEQ-A scores of 67.1 (14.8) compared to 75.9 (15.9) (p = 0.036). Conclusion The Chinese version of Wijma Delivery Expectancy/Experience Questionnaire (Version A) is a reliable and valid instrument to measure antenatal fear of childbirth among Chinese women. Clinicians can use this measure to assess the severity of women’s fear over the course of their pregnancy, and to monitor the success of any medical or psychological interventions for women with fear of childbirth in the future.