Prenatal screening for fetal face and clefting in a prospective study on low-risk population: Can 3- and 4-dimensional ultrasound enhance visualization and detection rate?

• Published in: Oral surgery, oral medicine, oral pathology, oral radiology and endodontics Vol. 100; no. 4; pp. 420 - 426
• Main Authors: Tonni, Gabriele, Centini, Giovanni, Rosignoli, Lucia
• Format: Journal Article
• Language: English
• Published: St. Louis, MO Mosby, Inc 01-10-2005; Elsevier
• Subjects: Adult; Biological and medical sciences; Cleft Lip - diagnostic imaging; Cleft Palate - diagnostic imaging; Dentistry; Female; Genetic Testing - methods; Humans; Infant, Newborn; Medical sciences; Otorhinolaryngology. Stomatology; Pregnancy; Pregnancy Trimester, Second; Prospective Studies; Sensitivity and Specificity; Ultrasonography, Prenatal - methods; Sonography; Human; Prenatal; Malformation; Stomatology; Echography; Fetus; Congenital cleft; Medical screening; Face; Congenital disease; Ultrasound
• ISSN: 1079-2104; 1528-395X
• DOI: 10.1016/j.tripleo.2005.02.082

A study of 1856 second trimester low-risk pregnancies was conducted over a period of 12 months to evaluate the detection rate of cleft lip and palate by 3- and 4-dimensional (3D, 4D) ultrasonography. To image the fetal face and profile, a protocol regarding the use of external or internal hand stimulation or a repeated scan was followed, and the time taken to perform 3D scan was compared to that of a conventional 2D ultrasound. One case of unilateral right cleft lip and a cleft lip plus cleft palate were both identified, giving a prevalence of 1.1 per 1000 live births and a prenatal detection rate of 100%. The average imaging time for fetal face/profile view was significantly less with 3D when compared to 2D (5.33 vs 6.2 seconds,
P < .001) and diagnosis at first scan without external or internal hand stimulation was feasible in 78% by 2D versus 87% by 3D technique (
P < .0001). Cleft lip and palate were isolated prenatal findings and newborn karyotyping showed normal chromosomal maps in both cases. With the use of this standardized protocol, we were able to image the fetal face and profile view in all cases. We underline the critical role of sonographic expertise in screening for these anomalies and the great enhancement in imaging soft tissues and bone lesions by using 3D ultrasound. We advocate that screening for cleft lip and palate be included in future standard ultrasound examination in the second trimester of pregnancy.