Prenatal ultrasound screening for orofacial clefts

Abstract

K E Y W O R D S:

Prenatal indices for mandibular retrognathia/micrognathia

“…Alternatively, they bildungen von Lippen, Kiefer und Gaumen kombiniert [3,15,42,43,44]. Während Spaltbildungen der Lippe und des Oberkiefers heute sonographisch bereits sehr zuverlässig festgestellt werden können [6,24,25,30,37,53,54], gelingt die Detektion von isolierten Gaumenspalten, die besonders oft mit weiteren Fehlbildungen assoziiert sein können, meist nicht [26]. Da in diesen Fällen Neugeborene häufiger schwerwiegende Ernäh-rungsprobleme und/oder eine lebensbedrohliche Ateminsuffizienz entwickeln können (z.…”

“…Many of the above findings are combined with cleft formation in lips, jaws, and palate [3,15,42,43,44]. While cleft formation in the lip and maxilla can today be diagnosed very reliably by sonography [6,24,25,30,37,53,54], attempts to detect isolated cases of cleft palate will often fail, which is unfortunate because they are often associated with other malformations [26]. Prenatal diagnosis is increasingly gaining importance in these neonates, who may be more susceptible to severe nutrition problems and/or life-threatening respiratory insufficiency (e.g., Pierre-Robin sequence, mandibulofacial sysostosis).…”

A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated?

“…Detection rates—predominantly on CL±P—increased from approximately 5% in the early 1980s to over 26% in the late 1990s,12 and they are as high as 65% today 13. Consequently, there is an increasing need for accurate information to aid in prenatal counselling.…”

Additional post-natal diagnoses following antenatal diagnosis of isolated cleft lip +/− palate

“…Routine screening views of the palate, technically more difficult than for the lip, are not currently included in most centres’ protocols in Canada. A recent study determined a sensitivity of 88% for the identification of CLP by two-dimensional (2-D) ultrasound, which is one of the highest estimates yet 2. Three-dimensional ultrasound assessment can enhance detection and visualisation 3.…”