Pena-Shokeir phenotype is a lethal anomaly characterized by neurogenic arthrogryposis, craniofacial anomalies, and pulmonary hypoplasia. This syndrome should be distinguished from trisomy 18 and arthrogryposis multiplex congenita for better counseling and establishing fetal prognosis. We present the case of a pregnant woman diagnosed with a Pena-Shokeir phenotype affected fetus at 24 weeks of gestation. Prenatal ultrasonography and fetal magnetic resonance imaging detected persistent hyperextension of the lumbar spine, micrognathia, absent septum pellucidum, and all characteristic features of Pena-Shokeir phenotype. Karyotyping was performed to exclude fetal chromosomal anomalies. Antenatal ultrasonography is an essential tool in the diagnosis of Pena-Shokeir phenotype while fetal magnetic resonance imaging is necessary to identify any associated anomalies of central nervous system.

Aim The purpose of this study was to establish the normal range of fetal nasal bone length (NBL) at the second trimester of gestation in Vietnamese pregnancies. Methods A prospective cross‐sectional study was carried out. A total of 2432 singleton pregnancies were evaluated for fetal NBL at 19–26 weeks 6 days between 1 January 2013 and 31 December 2014. Three measurements of NBL were taken and the largest value was chosen. Fetal anomalies and neonatal abnormalities were excluded. Results Mean fetal NBL was 6.75 ± 0.82 mm and mean gestational age was 22.2 ± 1.4 weeks. Median NBL increased linearly with advancing gestational age: NBL (mm) = 0.26 × gestational age (weeks) + 1.03 (R2 = 0.20; P < 0.000). The fifth percentile of fetal NBL ranged from 4.6 to 6.3 mm, corresponding with gestational age 19–26 weeks. Conclusion The normal range of NBL was established at second trimester in Vietnamese pregnancies. NBL at the fifth percentile for gestational age was different from that of other Asian ethnicities. It is necessary to define short NBL or hypoplasia of NBL with regard to ethnicity.

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