Prenatal ultrasound detection of facial clefts: a prospective study of 49,314 deliveries in a non-selected population in Norway.

OBJECTIVES: To evaluate prenatal detection of facial clefts by ultrasound examination in a large non-selected population, and to study trends in detection rates over 18 years, as well as the prevalence of isolated cases and those with associated anomalies. METHODS: This prospective follow-up study from January 1987 to December 2004 was divided into two 9-year periods. The study included all registered cases of prenatally or postnatally diagnosed facial clefts in a non-selected population in Norway. RESULTS: A total of 101 fetuses or newborns with facial clefts in a population of 49 314 deliveries were registered. The distribution of clefts was: 25 (25%) cleft lip, 52 (51%) cleft lip and palate, and 24 (24%) cleft palate (CP). No CP was detected prenatally. Cleft lip with or without cleft palate (CL(P)) was detected prenatally in 35/77 (45%) cases, with a significant increase in the detection rate from 34% to 58% between the two 9-year periods (P = 0.03). Over the whole study period CL(P) was detected at a median of 19 + 2 gestational weeks, with no change over time; altogether 24/35 (69%) cases were detected at the routine second-trimester ultrasound examination. Thirty-three of 77 (43%) cases of CL(P) and 14/24 (58%) cases of CP had associated anomalies; 12/101 (12%) had chromosomal aberrations. In 18/101 (18%) the clefts were part of a syndrome or sequence. CONCLUSIONS: The detection rate for CL(P) improved significantly over time. Detection of CL(P) is important because nearly half the cases have associated anomalies.

Prenatal ultrasound detection of talipes equinovarus in a non-selected population of 49 314 deliveries in Norway.

OBJECTIVES: To evaluate prenatal ultrasound detection of talipes equinovarus (TEV) in a large non-selected population and to study trends in detection rates over time, as well as the prevalence and outcome of isolated TEV and TEV with associated anomalies. METHODS: All cases of pre- or postnatally diagnosed TEV between 1987 and 2004 within a non-selected population of 49 314 deliveries were investigated. The study period was divided into three 6-year periods to shed light on changes in detection rates and other aspects of the anomaly over time. RESULTS: A total of 113 cases of TEV were registered during the 18-year period, of which 49% had isolated TEV and 51% had associated anomalies. During the three 6-year periods, there was a significant improvement (P = 0.006) in the overall detection of TEV from 43% to 67% and 77%, respectively. The detection rate for isolated TEV increased over time. Isolated bilateral TEV cases were detected more than twice as often as isolated unilateral TEV. The three largest groups of associated anomalies were syndromes/sequences (26%), chromosome aberrations (26%), and musculoskeletal disorders (24%). Pregnancies were terminated in 23% of the cases, all with severe additional anomalies. Treatment of TEV included surgery in 86% of the cases. CONCLUSION: The overall detection rate of TEV improved significantly over time. Prenatal detection was higher when TEV was bilateral and when other associated anomalies were present. Parents should be informed that, in suspected isolated TEV, associated anomalies might remain undetected prenatally.