Prenatal Detection of Facial Clefts

Abstract

Objectives: To determine (1) the antenatal detection rate for isolated cleft lip and/or cleft palate during the routine anomaly scan; (2) the correlation between prenatal diagnosis and postnatal findings, and (3) the association of apparently isolated cleft lip and/or cleft palate with other anomalies, in particular chromosomal abnormalities. Method: A population-based retrospective analysis of all cases of isolated cleft lip and/or cleft during an 8-year period in an academic teaching hospital in the UK. Results: Thirty-nine cases of isolated cleft lip and/or cleft palate were identified among deliveries at the hospital. Twenty-eight cases had a routine anomaly scan. Fourteen cases were detected prenatally (sensitivity 50%). None of the isolated cleft palates was detected, while 14 of 20 cases of cleft lip (70%) were detected. One of the isolated cases of cleft lip was associated with trisomy 21, while 3 of the isolated cleft palate cases were associated with the Pierre Robin syndrome. In all cases, an antenatal diagnosis of cleft was confirmed following delivery or post-mortem examination (specificity 100%). Conclusions: Ultrasound is a useful tool in screening for cleft lip with or without cleft palate, but not for cleft palate alone. Even with an isolated cleft lip, there is an increased risk of chromosomal abnormality. The role of prenatal education and support is extremely important in the preparation of prospective parents and can help alleviate the shock which occurs when there is an unexpected cleft at birth.

Impact parental de l’échographie 3D/4D des fentes labiopalatines

“…L'apport du diagnostic anténatal des fentes labiopalatines a été particulièrement étudié [14][15][16][17][18] et son bénéfice est incontestable en permettant : la préparation psychologique des parents et leur éducation à la gestion pratique de leur enfant à la naissance [19,20] ; la planification des soins néonatals et une meilleure connaissance des mesures à mettre en oeuvre pour l'alimentation (réduction de la mortalité périnatale) [21][22][23] ; le dépistage d'autres malformations associées ; la réalisation anténatale d'un caryotype [24,25] ; la possibilité de demander une interruption de grossesse en cas d'anomalies graves associées à la fente [23,26].…”

Sonographic Imaging of the Fetal Hard Palate During the Second-Trimester Pregnancy Scan

“…[4][5][6][7][8][9] There is a general reported rate of prenatal diagnosis of cleft lip in the range of 21% to 30%. [10][11][12][13] When the fetal face is imaged in all three orthogonal planes, as it is done using 3D sonography, the detection rate increases to 88% to 90%. 14,15 Russel et al 16 evaluated the rates of antenatal diagnosis in Nova Scotia from 1992 to 2000 and recently reported an overall prevalence of clefts of 2.1 in 1000 live births and an overall antenatal detection of CL ± CL/P of 23% with an improvement up to 30% in recent years (1997)(1998)(1999)(2000).…”

Directional Power Doppler in the midsagittal plane as an aid to the prenatal diagnosis of cleft lip and palate

“…Facial clefting is one of the most common congenital malformations with a frequency of approximately 1 in 700 to 1000 births in the United Kingdom (Sohan et al, 2001;Wayne et al, 2002). A cleft of the primary palate involves the alveolus and the ipsilateral lip while a secondary palate cleft occurs posterior to the incisive foramen and involves the hard and/or soft palate.…”