In cases of mild to moderate suspicion of choledocholithiasis, the accuracies of endoscopic sonography and MR cholangiopancreatography are similar. Because MR cholangiopancreatography is noninvasive, it may be preferred for this indication.

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

No abstract

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.

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.

Objectives To assess the added value of intravenous gadolinium injection to magnetic resonance imaging (MRI) -based diagnosis of abnormally invasive placenta (AIP) and to examine this in relation to the radiologist's experience.Design Retrospective study.Setting Between March 2009 and October 2012, 31 pregnant women who had previous caesarean delivery together with a placenta praevia and suspected placenta accreta on ultrasound in the third trimester of pregnancy.Population All were offered MRI examination, and made aware of the limited (but so far reassuring) data regarding fetal safety of gadolinium. Twenty pregnant women agreed to undergo prenatal MRI (1.5 T), with and without gadolinium injection.Methods Two sets of MRI examinations without and with gadolinium were reviewed independently 2 months apart by two senior and two junior radiologists; all were blinded to the outcome (known in all cases). Histopathological findings and clinical signs of AIP were considered as the defining criteria of diagnosis.Main outcome measure accuracy of MRI with and without gadolinium was assessed.Results Eight of the 20 women had confirmed abnormal placental invasion. The overall performance of both sets of readers in detecting AIP increased with gadolinium-sensitivity and specificity of 75.0% (42.0-100%) and 47.9% (19.9-75.9%) increasing to 87.5% (57.1-100%) and 60.4% (33.9-86.9%), respectively (P = 0.04). The added value of gadolinium remained irrespective of radiologist's experience, although senior radiologists performed better overall (sensitivity and specificity of 87.5% and 62.5% versus 62.5% and 33.3%, respectively, increasing with injection to 93.8% and 70.8% versus 81.3% and 50%, respectively; P < 10 À4 ).Conclusion There was an association between gadolinium use and improvement in MRI-based diagnostic accuracy for the diagnosis of AIP, for both junior and senior radiologists.

No abstract

RING Finger Protein 113 A (RNF113A, MIM 300951) is a highly conserved gene located on chromosome Xq24‐q25, encoding a protein containing two conserved zinc finger domains involved in DNA alkylation repair and premessenger RNA splicing. To date, only one pathogenic variant of RNF113A, namely c.901C>T; p.Gln301Ter, has been reported in humans by Tarpey et al. in 2009. Thereafter, Corbett et al. stated that this variant was responsible for an X‐linked form of nonphotosensitive trichothiodystrophy associated with profound intellectual disability, microcephaly, partial corpus callosum agenesis, microphallus, and absent or rudimentary testes. This variant was then shown to alter DNA alkylation repair, providing an additional argument supporting its pathogenicity and important clues about the underlying pathophysiology of nonphotosensitive trichothiodystrophy. Using exome sequencing, we identified exactly the same RNF113A variant in two fetuses affected with abnormalities similar to those previously reported by Corbett et al. To our knowledge, this is the second report of a RNF113A pathogenic variant in humans.