Prenatal ultrasound detection of facial clefts: a prospective study of 49,314 deliveries in a non-selected population in Norway.
OBJECTIVE
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.
Offerdal
K
K
National Center for Fetal Medicine, Women and Children's Center, St. Olavs University Hospital and Institute of Laboratory Medicine, Children's and Women's Health, Norwegian University of Science and Technology, Trondheim, Norway. kristin.offerdal@ntnu.no
Jebens
N
N
Syvertsen
T
T
Blaas
H-G K
HG
Johansen
O J
OJ
Eik-Nes
S H
SH
D016009:Chi-Square Distribution; D002869:Chromosome Aberrations; D002971:Cleft Lip / Q000000981:diagnostic imaging* / Q000196:embryology / Q000453:epidemiology; D002972:Cleft Palate / Q000000981:diagnostic imaging* / Q000196:embryology / Q000453:epidemiology; D005145:Face / Q000000981:diagnostic imaging* / Q000196:embryology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D009664:Norway / Q000453:epidemiology; D011237:Predictive Value of Tests; D011247:Pregnancy; D015995:Prevalence; D011446:Prospective Studies; D016216:Ultrasonography, Prenatal / Q000706:statistics & numerical data*