Concordance between earlier 13–17-week and routine second-trimester ultrasound findings in prenatally detected craniofacial malformations

Abstract Objective To retrospectively assess concordance in prenatal detection of craniofacial malformations (CFMs) between earlier fetal ultrasound (US) examinations performed at 13–17 weeks and routine second-trimester anomaly scans performed at 18–22 weeks, using a paired cohort with postnatal or fetopsy/autopsy confirmation. Methods This retrospective paired cohort study was conducted at a community-based fetal US center. Eligible cases had sonographic documentation from both gestational windows, and postnatal or fetopsy/autopsy confirmation. The primary outcome was concordance in CFMs detection between the two examinations, including whether any CFMs were detected only at 18–22 weeks. Results Among 30,684 US examinations, 82 confirmed CFMs met the inclusion criteria, corresponding to an observed proportion of 2.7 CFMs per 1000 examinations. The most frequent anomalies were unilateral cleft lip and palate ( n =24) and isolated cleft palate ( n =11) in addition to several rarer anomalies. In all included cases, the same CFMs identified in the earlier US were also diagnosed on the routine second-trimester scan, with no additional anomalies detected later. There were no discordant pairs (McNemar’s exact test, P =1.00). Chromosomal abnormalities were present in 14.6% (12/82) of cases and associated systemic anomalies in 42.7% (35/82). Conclusions Earlier fetal US at 13–17 weeks identified the same spectrum of CFMs later identified at the 18–22-week scan in this paired cohort of confirmed cases. These findings support incorporation of the 13–17-week fetal anatomical assessment as a desired protocol for earlier prenatal recognition of CFMs before the routine scan, with potential value for assessment of associated abnormalities, pregnancy planning, maternal counseling, and informed decision-making.