Congenital Abnormalities of the Fetal Face

Abstract

Even at the early stages of gestation, the fetal face can be examined. There have been observations of the normal anatomy, such as orbits and the forehead, starting with the 12th week of gestation. However, nowadays, ultrasound equipment still cannot distinguish the soft tissues of the face, which are too thin. Yet, after the age of 14 weeks, we can easily examine the forehead, orbits, nose, lips, and ears. Recently, three-dimensional ultrasound (3D) images of the fetus can also be obtained. However, two-dimensional (2D) ultrasonographic (US) images are more easily, rapidly, efficiently, and accurately obtained. At the first stage of embryogenesis, the main part in the development of the fetal face is taken by the genetic factors. Later, the influence of the environment becomes more important. It is known that the outcome of chromosomal aberrations and of teratogenic factors is the facial malformation. Therefore, examining the facial dimorphism may get us useful hints in revealing chromosomal or genetic abnormalities. This chapter focuses on the fetal face anomalies more frequently found while performing the prenatal diagnosis. It is divided into anomalies of the orbits, nose, lip, palate, and mandible.

Are non-invasive or minimally invasive autopsy techniques for detecting cause of death in prenates, neonates and infants accurate? A systematic review of diagnostic test accuracy

“…Out of 62 articles, eight (13%) articles had a low risk of bias,182–189 45 (72%) articles had some concerns,185 190–234 and nine (15%) articles had a high risk of bias235–243 (figure 2).…”

“…The overall ratings of the applicability of the articles to the review question found one (2%) article had a high level of concern,241 20 (31%) had some concerns,195 200 205 206 212 214 215 217 220 222 225 226 231–234 237–240 and 41 (67%) had a low level of concern 182–194 196–199 201–204 207–211 213 216 218 219 221 223 224 227–229 235 236 242 243…”

“…In a loss in utero population, results are conflicting with four studies in favour of ultrasound, one borderline favourable and two suggesting a large proportion of partial agreements making ultrasound unfavourable 215 220 228 230 233 243. Another found favour for ultrasound in cases of CNS anomalies but not for somatic tissue anomalies 229…”

“…For antenatal ultrasound, the majority of studies had some concerns around the risk of bias,205 208 215 220 228–230 233 while one was at high risk (online supplemental figure 1A). 243 Struksnaes et al contributed highly to the favourability of antenatal ultrasound in a loss in utero population but had a high risk of bias due to conduct of the reference standard in domain 3 of the QUADAS-2 assessment.…”