Isolated hyperechoic fetal colon before 36 weeks' gestation reveals cystinuria.

Objectives: To determine whether there is an association between the fetal ultrasound finding of hyperechoic colon and the gestational age at which it presents and cystinuria.

Methods: A prospective national survey was performed in France including all observations of isolated fetal hyperechoic colon detected at routine second- and third-trimester ultrasound over a 2-year period. Collected images were reviewed by experts.

Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound.

Walker-Warburg syndrome (WWS) is a rare, lethal autosomal recessive disorder characterized by congenital muscular dystrophy and brain and eye anomalies. A prenatal finding of hydrocephalus associated with posterior fossa anomalies and/or encephalocele is nonspecific, whereas additional ocular anomalies are typical for WWS. We report a fetus of consanguineous parents found to have encephalocele at US in week 15 of gestation.

Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome.

An hypothalamic hamartoma is an abnormal mass of mature glio-neuronal tissue present in the hypothalamic area. It usually measures <2 cm of diameter. Most of the time, this hamartoma occurs in Pallister-Hall syndrome (PHS), due to heterozygous GLI3 mutations.

[Lung signal on fetal MRI: normal values and usefulness for congenital diaphragmatic hernia].

Purpose: To demonstrate the feasibility of lung signal measurements on fetal MRI, present normal signal intensity curves, and assess its value to predict pulmonary hypoplasia.

Patients And Methods: Prospective multicentric study of 115 fetuses without lung disease and 33 fetuses with left diaphragmatic hernia and high risk of pulmonary hypoplasia. Signal measurements were obtained of the lungs, liver and psoas from fast heavily T2W sequences (HASTE, 2 measurements and 2 orthogonal planes for each organ, oval-shaped ROI of 1 cm2 for lungs and liver, and 0.

[Cerebral infarction in full-term newborns: MR imaging features].

Purpose: Perinatal stroke is the most frequent cause of congenital hemiplegia. The MR imaging features of cerebral infarction in full-term newborns will be reviewed and the underlying etiologies discussed.

Patients And Methods: Retrospective study (1999-2005) including 15 newborn infants without history of fetal distress with early seizures (before day 7) with ischemic or hemorrhagic infarct on MR.

Fetal intracranial tumors: a review of 27 cases.

Fetal intracranial tumors are rare. The diagnosis is generally made on histology after birth. The aim of this study was to analyze clinical and imaging data in a series of fetal intracranial tumors and emphasize the findings that may help approach the diagnosis antenatally.

Neurodevelopmental outcome in prenatally diagnosed isolated agenesis of the corpus callosum.

Aim: To evaluate long-term neurodevelopmental outcomes in children with prenatally diagnosed, isolated agenesis of the corpus callosum (ACC).

Methods: We retrospectively reviewed data for 20 children born between January 1991 and November 2003 in the Haute-Normandie region of France with a prenatal diagnosis of isolated ACC. We collected data on pre-and postnatal neuroimaging findings, clinical features at birth and neurodevelopmental outcomes.

Hyperechoic metaphyses in hypophosphatasia: what does it mean?

We report a case of hypophosphatasia diagnosed using US and CT at 29 weeks' gestation and confirmed by molecular analysis. Prenatal US revealed very short fetal limbs and severe demineralization of the skull. The diaphyses were normal, but the metaphyses of the long bones appeared hyperechoic with no posterior shadowing.

Dural sinus malformation (DSM) in fetuses. Diagnostic value of prenatal MRI and follow-up.

Dural sinus malformations (DSM) are rare malformations mainly reported after birth. The objectives of this study are to describe their prenatal patterns and to focus on their possible favorable outcome. This multicenter retrospective study reported 13 cases of DSM prenatally diagnosed.

[A voluminous sacrococcygeal teratoma: prenatal diagnosis, in-utero treatment and obstetric management].

Sacrococcygeal teratoma is the most common and benign fetal tumor. Fetuses with sacrococcygeal tumors that are predominantly solid and highly vascularized have a high risk of fatal issue. Hydrops and tumor hemorrhage are associated with a highest risk of fetal death.

[Fetal MRI: indications, limits and dangers].

Although prenatal sonography remains the primary imaging method for screening fetal anomalies, fetal MRI with ultrafast imaging technique is a complementary imaging method as soon as the second trimester. It allows better tissue contrast images than does US, a large field of view of the foetus and is not limited by large maternal body habitus and oligohydramnios, without any risk for the foetus. In the future, the development of new techniques (diffusion-weighted imaging, proton MR spectroscopy) and faster sequences will make it possible to widen the indications i.

[Sonography with color and pulsed Doppler in fetal pulmonary malformations].

Objective: Evaluate the advantages of color Doppler and pulsed Doppler in the diagnosis and prognosis of fetal pulmonary malformations.

Materials And Method: This retrospective study of 24 fetuses explored pulmonary malformations using sonography. A classification into four groups was made based on the presence of cysts and the echogenicity of the lesion, then analysis of video recordings including Doppler with an interpretation chart: afferent vessel, color chart, spectrum shape (afferent vessel and within the malformation) to determine the contribution of Doppler within each group.

Magnesium sulphate given before very-preterm birth to protect infant brain: the randomised controlled PREMAG trial*.

Objective: To evaluate whether magnesium sulphate (MgSO(4)) given to women at risk of very-preterm birth would be neuroprotective in preterm newborns and would prevent neonatal mortality and severe white-matter injury (WMI).

Design: A randomised study.

Setting: Eighteen French tertiary hospitals.

Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: A multicenter study.

Objectives: To identify important factors in the differential diagnosis of renal cysts associated with hyperechogenic kidneys.

Methods: This was a retrospective multicenter study. We identified 93 fetuses presenting between 1990 and 2002 with hyperechogenic kidneys and which had a diagnosis of nephropathy confirmed later.

Hyper-echogenic colon: a prenatal sign of cystinuria?

We suggest the term 'hyper-echogenic colon' to describe a hyperechoic foetal colonic content with no other intestinal abnormality. This is a rare pattern, which to our knowledge, has never been correlated with a specific pathology. The accidental observation of a cystine kidney stone in an infant who presented with this sign during the prenatal period made it possible to diagnose this disease retrospectively in two other children.

Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases.

Brachytelephalangic chondrodysplasia punctata (CDPX1, OMIM: #302950) is a rare congenital skeletal dysplasia caused by arylsulfatase E deficiency (OMIM: #300180). Although the symptoms are usually mild, severe spinal cord compression by dysplastic vertebras may develop. We report four new cases with severe cervical spinal canal narrowing documented by radiography, magnetic resonance imaging (MRI), and autopsy.

Prenatal diagnosis of an exceptional intrauterine herpes simplex type 1 infection.

Objective: To assess ultrasound findings of a fetus with intrauterine growth retardation (IUGR) and skin damage, related to intrauterine herpes simplex virus (HSV) infection.

Methods: A 23-year-old, G1, P0 woman was referred at 23.5 weeks' gestation (WG) for IUGR.

Perinatal assessment of hereditary cystic renal diseases: the contribution of sonography.

The aims of this review article were to clarify the steps that may lead to a proper diagnosis of fetal and neonatal renal cystic diseases. All the hereditary cystic diseases are reviewed and a classification is proposed. The various sonographic patterns that can be used to ascertain the diagnosis are also reviewed.

Meckel-Grüber syndrome: sonography and pathology.

Objective: To define a specific sonographic pattern for the appearance of the kidneys in fetuses affected by Meckel-Grüber syndrome (MGS).

Methods: This was a retrospective analysis of 30 cases, collected from five centers, with ultrasound features suggestive of MGS. Only fetuses with a confirmed diagnosis of MGS were finally included.