Diagnostic accuracy of transabdominal ultrasound in detecting prenatal cleft lip and palate: a systematic review

Abstract

Objectives: To systematically review the diagnostic accuracy of second-trimester transabdominal ultrasound in detecting orofacial clefts in low- and high-risk populations and to compare two-dimensional (2D) with three-dimensional (3D) ultrasound techniques.

Methods: MEDLINE and EMBASE were searched for articles published in English, Dutch, French or German using the keywords 'cleft' and 'ultrasound' or 'screening' or 'sonogram' and 'prenatal' or 'antenatal' or 'fetus' to identify cohort studies and randomized trials in order to assess the detection rate by prenatal ultrasound of cleft lip and palate in high-risk and low-risk pregnant women.

Results: Of 451 citations identified, 27 met the criteria for the systematic review, 21 involving unselected low-risk populations and six involving high-risk populations. In the selected studies there was diversity in the gestational age at which the ultrasound examination was performed and there was considerable variety in the diagnostic accuracy of 2D ultrasound in the low-risk women, with prenatal detection rates ranging from 9% to 100% for cleft lip with or without cleft palate, 0% to 22% for cleft palate only and 0% to 73% for all types of cleft. 3D ultrasound in high-risk women resulted in a detection rate of 100% for cleft lip, 86% to 90% for cleft lip with palate and 0% to 89% for cleft palate only.

Conclusions: 2D ultrasound screening for cleft lip and palate in a low-risk population has a relatively low detection rate but is associated with few false-positive results. 3D ultrasound can achieve a reliable diagnosis, but not of cleft palate only.