Septo-optic dysplasia (SOD; De CASE REPORTS Case 1A healthy 17 year-old primigravid woman was referred at 29 weeks of gestation on suspicion of fetal holoprosencephaly. Sonographic examination, using an Aloka 5500 (Aloka, Decines Charpieu, France) ultrasound machine equipped with 6-MHz abdominal and transvaginal probes, revealed isolated absence of the septum pellucidum (SP): the lateral ventricles had square fused frontal horns (Figure 1). There was no ventriculomegaly, the thalami were not fused, and the corpus callosum, fornix, anterior cerebral artery and falx cerebri were normal, thus excluding holoprosencephaly (Figure 2). Cerebral gyration appeared normal for gestational age, the Sylvian fissure and callosomarginal, central and temporal sulci all being observed. Fetal MRI confirmed the sonographic findings and showed hypoplasia of the optic chiasma (Figure 3). There was no evidence of cortical dysplasia. The possibility of septo-optic dysplasia (SOD; De Morsier syndrome) was raised and maternal serum and urinary estriol tests were performed, which revealed very low levels. Since estriol arises from placental aromatization of androgens of fetal adrenal origin 1 , these low levels were consistent with the diagnosis of fetal adrenal insufficiency, probably secondary to adrenocorticotropic hormone (ACTH) deficiency and hypopituitarism. These biological results, along with the ultrasound and magnetic resonance imaging (MRI) findings, were consistent with the diagnosis of fetal SOD but the mother refused cordocentesis for further fetal endocrine assessment. Despite counseling about a poor outcome, she did not ask for a termination of pregnancy, which would have been permitted, according to French law, and a full-term 2960-g male infant was delivered. Postnatal investigations ascertained the diagnosis of SOD with hypopituitarism and blindness. The infant had growth hormone, ACTH and thyroid stimulating hormone deficiency. At the time of writing the child was 4 years old, and was developmentally delayed and blind. Case 2A healthy 31 year-old primigravid woman was referred for a first sonogram at 30 weeks of gestation when her pregnancy was discovered. On sonography only the very anterior part of the SP was seen, with no posterior part, the frontal horns being fused at this level (Figure 4). The atrium of the lateral ventricles was 10 mm wide. Holoprosencephaly was ruled out since the corpus callosum was normal in length (37 mm), and the anterior cerebral arteries, the columns of the fornix and the falx cerebri were also normal. The gyration was normal for gestational age. The optic nerves were 3 mm in diameter, which is standard for this gestational age. There was no microcephaly nor dysmorphic features. The

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RPOC with MV can present with large uterine AV shunt, particularly in case of late management. Uterine artery embolization is an effective and safe first-line treatment, and should be evaluated for this indication in larger prospective trials.

This study supports the hypothesis of a beneficial effect of CPDPN on prenatal diagnosis of CHDs. These centers not only fulfill their primary purpose but also operate as learning centers in which screening sonographers may improve their practice.

The COL4A1 gene encodes the alpha1 chain of type IV collagen, a crucial component of nearly all basement membranes. Mutations in COL4A1 were first associated with cerebral microangiopathy and familial porencephaly. Recently, several authors have reported mutations in COL4A1 as a Mendelian cause of prenatal onset intracranial hemorrhage (ICH). We report two cases of prenatal ICH associated with cataract and suggest that COL4A1 mutation should be envisaged in fetuses with prenatal ICH, especially in the presence of lens abnormalities at ultrasound examination.

Objective To evaluate prenatal ultrasound parameters as prognostic factors for complex and vanishing gastroschisis. Methods Retrospective multicentre study of 200 gastroschisis over 13 years (2000–2013). Collection of prenatal ultrasound evaluation on maternal and fetal growth parameters, intra‐ and extra‐abdominal bowel and stomach dilation, abdominal wall defect diameter and changes in bowel appearance. Correlation of these factors with the presence of mechanical intestinal complications at birth, named ‘complex gastroschisis’. Results Fifty‐two patients (26%) had complex gastroschisis (CG), including ten vanishing gastroschisis. The presence of intra‐abdominal bowel dilation at the second (T2) or third (T3) trimester ultrasound was predictive for CG, with odds ratios at 6.69 (95%CI 2.41–18.55) and 4.72 (95%CI 2.16–10.28), respectively, with a cut‐off value at the last examination of >19 mm. A small abdominal wall defect diameter was also predictive for CG, with cut‐off values of <9.2 mm at T2 and <12.5 mm at T3. Vanishing gastroschisis recorded earlier intra‐abdominal bowel dilation diagnosis, associated with a small wall defect and no extra‐abdominal dilation. Conclusion Intra‐abdominal bowel dilation and a small abdominal wall defect diameter accurately predict CG and could be a first sign of vanishing gastroschisis when they occur early. © 2016 John Wiley & Sons, Ltd.

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CHARGE syndrome comprises ocular coloboma (C), heart malformation (H), choanal atresia (A), retardation of growth and/or anomalies of the central nervous system (R), genital anomalies (G) and ear anomalies (E). Prenatal diagnosis of CHARGE syndrome may be suspected in the presence of specific major anomalies at ultrasound examination. We describe prenatal diagnosis of CHARGE syndrome confirmed by identification of a mutation in CHD7 gene in a previously unaffected family.