A paranasal echogenic mass identified at ultrasound performed during the second trimester was the initial and primary clue to the presence of bilateral complete cleft lip and palate in four fetuses. Referral had been for dating purposes in three cases and because of high maternal serum alpha-fetoprotein level in one. Genetic amniocentesis revealed deletion of the 15th chromosome in one case. The clefts were small and difficult to visualize; the finding of the echogenic mass (representing a premaxillary protrusion) therefore added confidence to the diagnosis.
BackgroundFetal growth restriction is, despite advances in neonatal care and uptake of antenatal ultrasound scanning, still a major cause of perinatal morbidity. Neonates with birth weight > 10th percentile are assumed to be appropriate-for-gestational-age (AGA), although many are at increased risk of perinatal morbidity, because of undetected mild restriction of growth potential. We hypothesized that within AGA neonates, reduced fetal growth velocities are associated with adverse neonatal outcome.MethodsA retrospective cohort study of singleton pregnancies, in the Maastricht University Medical Centre (MUMC) between 2010 and 2016. Women had two fetal biometry scans (18–22 weeks and 30–34 weeks of gestational age) and delivered a newborn with a birth weight between the 10th–80th percentile.Differences in growth velocities of the abdominal circumference (AC), biparietal diameter (BPD), head circumference (HC) and femur length (FL) were compared between the suboptimal AGA (sAGA) (birth weight centiles 10–50) and optimal AGA (oAGA) (birth weight centiles 50–80) group. We assessed the association between velocities and neonatal outcomes.ResultsWe included 934 singleton pregnancies. In the suboptimal AGA group, fetal growth velocities were lower (in mm/week): AC 10.72 ± 1.00 vs 11.23 ± 1.00 (p < .001), HC 10.50 ± 0.80 vs 10.68 ± 0.77 (p = 0.001), BPD 3.01 ± 0.28 vs 3.08 ± 0.27 (p < .0001) and FL 2.47 ± 0.21 vs 2.50 ± 0.22 (p = 0.014), compared to the optimal AGA group. Neonates with an adverse neonatal outcome had significantly lower growth velocities (in mm/week) of: AC 10.57 vs 10.94 (p = 0.034), HC 10.28 vs 10.59 (p = 0.003) and BPD 2.97 vs 3.04 (p = 0.043) compared to those with normal outcome. An inverse association was observed between the AC velocity and a composite adverse neonatal outcome (OR) = 0.667 (95%CI 0.507–0.879, p = 0.004), and between the AC velocity and neonates with NICU stay (OR) = 0.733 (95%CI 0.570–0.942, p = 0.015). Neonates with a birthweight lower than expected (based on the abdominal circumference at 20 weeks) had significantly more composite adverse neonatal outcomes 8.5% vs 5.0% (p = 0.047), NICU stays 9.6% vs 3.8% (p < .0001) and hospital stays 44.4% vs 35.6% (p = 0.006).ConclusionsAppropriate-for-gestational-age neonates are a heterogeneous group with some showing suboptimal fetal growth. Abnormal fetal growth velocities, especially abdominal circumference velocity, are associated with adverse neonatal outcome and can potentially improve the detection of mild growth restriction when used in multivariate models.
Conclusion: Prenatal diagnosis of Williams-Beuren syndrome in the second trimester have been previously reported but is uncommon. We describe the atypical features of nuchal edema, small stomach and echogenic cardiac focus at the second trimester. Our case underscores the value of microdeletion screening in fetal growth restriction in association with (mild) softmarkers.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.