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.

Epstein-Barr virus (EBV) infection in pregnancy and consequent fetal outcomes are rarely reported. The majority of cases described strongly support the possibility of transmission of this virus in utero and during delivery, resulting in stillbirth and/or congenital defects. We present a case of EBV reactivation in pregnancy that caused a severe symmetrical fetal growth restriction (FGR) and ultimately spontaneous fetal death. A 36-year-old woman, whose infection status was undetermined, was diagnosed with severe FGR at 24 weeks' gestation. The fetal karyotype was normal. EBV DNA was detected in the amniotic fluid and maternal immunoglobulin G antibodies were positive. At 30 weeks' gestation, the fetus died spontaneously. Placental examination found evidence of deciduitis and villitis. Reactivation of EBV infection appears to be related to FGR and warrants further research to determine the optimal management strategy in pregnancy.

Aims: The purpose of this study was to define the most suitable cut-off point for fetal nuchal translucency thickness in a screening program for aneuploidy and trisomy 21 in the south of Vietnam. Material & Methods: Two thousand and five hundred cases of singleton pregnancies were followed prospectively from the first trimester to the delivery. The rate of aneuploidy was calculated by seeking a relationship to increased fetal nuchal translucency thickness then calculating the sensitivity and specificity of different cut-off points in thickness measurement to find the most suitable point for screening. Results:The prevalence of fetal abnormality was 1.5% (95% CI 1.1-2.1), and 1.2% (95% CI 0.8-1.7) of aneuploidy cases found and the commonest was trisomy 21. A cut-off point at 2.4 mm showed the highest level of sensitivity and specificity for the detection of aneuploidy (65.5 and 95.7%) and trisomy 21 (75.0 and 95.1%), with a false-positive rate of 4.3 and 4.9%, respectively. Conclusion:Using a cut-off point of nuchal translucency at 2.4 mm has potential for aneuploidy and trisomy 21 screening in the south of Vietnam.

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.

Aims: This study aimed to evaluate the most effective approach screening of trisomy 21 in the first trimester in Vietnam Method: A prospective study carried out during 1 year. All pregnancies screened the risk of trisomy 21 by association of the fetal nuchal translucency, maternal age and biochemical serum (free β-hCG and PAPP-A) as a combined test in the first trimester. The amniocentesis was used to diagnose trisomy 21. In each 4 approaches screening (the isolated maternal age, the maternal age and fetal NT thickness, maternal age and biochemistry, and combined test), the detection rate and false positive rate of trisomy 21 were calculated to find out the most effective screening method.Results: Followed up 2500 singleton pregnancies, the incidence of trisomy 21 was 0.6% (16/2500) (95%CI 0.4-1.0%). The absence of nasal bone and poly-malformation were the essential ultrasonographic findings of Down's syndrome. An increased fetal NT (≥ 2.4 mm) related significantly to this aneuploidy (OR=58.6, 95%CI 17.3-251, p < 0.0001). In comparison of 4 approaches screening, the most possibility of Down's syndrome detection was the combined test (87.5% of sensitivity for 2.6% of false positive rate). Conclusion:The combined test was effectively screening method for Down syndrome in Vietnamese pregnancies.