Association between prenatal sonographic findings and post-natal outcomes in 30 cases of isolated spina bifida aperta

This study presents 30 cases of fetal isolated spina bifida aperta (SBA) to identify prenatal ultrasound findings that could predict the prognosis. Comparisons between surviving patients who had normal (group 1) and abnormal (group 2) post-natal neurological outcomes were made for three different prenatal signs, that is, site of vertebral lesion, presence and degree of ventriculomegaly and presence of talipes. The site of the lesion was the most significant outcome predictor, as high spinal dysraphisms were observed in 2 patients (2/7–28.6%) in group 1 and in 15 patients (15/19–79.0%) in group 2 (p = 0.03). The presence of fetal ventriculomegaly was associated with impaired post-natal neurological development, as it occurred in 4 patients (4/7–57.1%) in group 1 and in 18 patients (18/19–94.7%) in group 2 (p = 0.04). The presence of talipes did not significantly differ between the two groups. Patients with abnormal intellectual outcome (8/26–30.8%) had significantly greater (p = 0.018) lateral ventricle/hemisphere ratios (mean = 0.74, standard deviation = 0.13) than those with normal intellectual development (mean = 0.54, standard deviation = 0.18). Mean post-natal follow-up was at 23 months (standard deviation = 15 months). Copyright © 2003 John Wiley & Sons, Ltd.     

Increased fetal nuchal translucency at 11–14 weeks

Nuchal translucency (NT) is the sonographic appearance of a subcutaneous collection of fluid behind the fetal neck. The measurement of fetal NT thickness at the 11–14-week scan has been combined with maternal age to provide an effective method of screening for trisomy 21; for an invasive testing rate of 5%, about 75% of trisomic pregnancies can be identified. When maternal serum free-β human chorionic gonadotrophin (β-hCG) and pregnancy-associated plasma protein-A (PAPP-A) at 11–14 weeks are also taken into account, the detection rate of chromosomal defects is about 90%. Increased NT can also identify a high proportion of other chromosomal abnormalities and is associated with major defects of the heart and great arteries, and a wide range of skeletal dysplasias and genetic syndromes. In monochorionic twins, discordancy for increased NT is an early marker of twin-to-twin transfusion syndrome (TTTS). As with the introduction of any new technology into routine clinical practice, it is essential that those undertaking the 11–14-week scan are adequately trained and their results are subjected to rigorous audit. Copyright © 2002 John Wiley & Sons, Ltd.     

Antenatal manifestation of congenital pancreatoblastoma in a fetus with Beckwith–Wiedemann syndrome

An Erratum has been published for this article in Prenatal Diagnosis 23(9) 2003, 771 Antenatal detection of an isolated abdominal cyst was found to be a pancreatoblastoma in a female fetus with Beckwith–Wiedemann syndrome. Prenatal and post-natal features and management of this very rare tumour are discussed. Molecular investigation disclosed a mosaic paternal 11p15 uniparental disomy in the tumoral cells. The prognosis of a congenital pancreatoblastoma is good if complete surgical excision is achieved. However, the association with Beckwith–Wiedemann syndrome requires a prolonged follow-up because of the increased risk of developing malignant tumours. Copyright © 2003 John Wiley & Sons, Ltd.     

Fetal diaphragmatic hernia and upper limb anomalies suggest Brachmann-de Lange syndrome

We describe two independent cases of Brachmann-de Lange syndrome (BDLS) in which second trimester fetal sonographic studies showed the presence of a diaphragmatic hernia and upper limb anomalies. In both cases the karyotypes were normal. Intrauterine growth restriction (IUGR) developed in the third trimester. Postnatal and postmortem physical examinations demonstrated typical physical findings associated with BDLS. The prenatal diagnosis of diaphragmatic hernia with associated anomalies should prompt consideration of an underlying genetic etiology. Copyright © 2002 John Wiley & Sons, Ltd.