Duplication of 10q24 locus: broadening the clinical and radiological spectrum.

Split-hand-split-foot malformation (SHFM) is a rare condition that occurs in 1 in 8500-25,000 newborns and accounts for 15% of all limb reduction defects. SHFM is heterogeneous and can be isolated, associated with other malformations, or syndromic. The mode of inheritance is mostly autosomal dominant with incomplete penetrance, but can be X-linked or autosomal recessive.

[Hyperechogenic fetal bowel: Which fetal and neonatal outcome? A French study of 149 cases].

Objectives: In case of hyperechogenic fetal bowel (HFB), invasive procedures such as amniocentesis are often proposed to detect an underlying cause. Our goal is to study etiologies and prognosis of HFB according to antenatal sonographic findings in order to evaluate the relevance of antenatal assessment.

Materials And Methods: It is a retrospective monocentric study lead from 2008 to 2012, including all patients with a suspicion of HFB on routine sonography.

[Prenatal analysis of primary sulci by ultrasonography and MRI].

Gyration abnormalities often reflect severe neurological diseases. Their diagnosis is impeded by our limited knowledge about normal sulci anatomy throughout fetal brain development. Primary sulci appears in a specific chronology which is unchanged among all fetuses.

[Evaluation of a proximity training program of nuchal translucency measurements and of self-scoring].

Objective: Improvement in prenatal diagnosis of Down syndrome imposes to sonographers to realize good quality nuchal translucency measurements, which can be used for assessment of combined risk. The aim of our study was to evaluate a training program of 109 sonographers for measuring nuchal translucency and scoring their own image.

Study Design: After a proximity training program, trainees submitted 20 images scored by themselves with Herman image-scoring method.

[Magnetic resonance imaging applications in obstetrics].

Purpose: To review the main indications and results of magnetic resonance imaging in the pregnant women.

Material And Method: We reviewed MRI practice during the pregnancy based on our own experience in a prenatal diagnostic center and data in the literature. Rapid improvement in MRI technology has allowed more extensive use, giving a good contrast-to-noise ratio and multiplanar imaging.

[Trisomy 18: ultrasound aspects. Report of 40 cases].

Objective: We describe the different ultrasound findings suggestive of trisomy 18.

Patients And Methods: We conducted a retrospective study in 40 cases of trisomy 18 diagnosed in the department of obstetrics at the Lille University Hospital between 1988 and 1998.

Results: Eighty percent of the women in this series were multiparous.

[Echographic signs of trisomy 21 in the second trimester of pregnancy: actual value after analysis of the literature].

Objective: To evaluate the interest and to compare the major echographic signs of Down syndrome in the second trimester of pregnancy.

Methods: A bibliographic research has been performed for most of the echographic signs known and studied until now. For each study and in average for each sign, we have computed its sensitivity, its specificity, its positive and negative predictive values using the results of the different authors.

[Nuchal translucency: screening for chromosomal abnormalities and congenital malformations. Multicenter study].

Objective: To value the rate of chromosomal abnormalities and evolution of children who had a prenatal diagnosis of fetal nuchal translucency in the first trimester.

Material And Methods: Multicenter prospective study conducted in 4,582 patients who had a first ultrasonography between 10 and 14 weeks' gestation (abdominal and/or transvaginal sonography). The measurement of fetal nuchal translucency was performed by mid-sagittal section and when it was higher than 2.

[Ultrasonographic signs of chromosome aberrations].

We reviewed the literature on ultrasonographic criteria allowing prenatal diagnosis of chromosome aberrations, especially the most frequent: trisomy. Signs vary depending on the term of the ultrasound examination (first trimester ultrasound is often performed to early and several signs are observed in the second trimester). During the first trimester, the main criteria is the diagnosis of nuchal clearness 3 mm.

[Choroid plexus cysts and risks of chromosome anomalies. Review of the literature and proposed management].

Objective: We propose to specify the different criteria of estimation and management in presence of a ultrasound discovery of a choroid plexus cyst.

Method: A detailed review of the literature about this subject allowed to better apprehend the different attitudes taken up by the authors.

Results: Fetal choroid plexus cysts (CPC) are potentially useful markers for trisomy 18 in as much as they are present in about 50% of affected fetuses and they are easily seen in the standard biparietal diameter view which is obtained for all routine ultrasound scans.

[Prenatal diagnosis of three caudal regression syndromes associated with maternal diabetes].

We report three cases of caudal regression syndrome diagnosed in utero. Caudal regression syndrome (CRS) is a rare condition associating vertebral agenesia and urinary and digestive tract malformations. Pathogenesis is not clear but, as in our three cases, the CRS is often associated with poorly controlled maternal diabetes.

Prenatal diagnosis of metatropic dwarfism.

We present a case of prenatal diagnosis of severe metatropic dysplasia at 20 weeks' gestation. The characteristic prenatal features of this rare autosomal recessive chondrodysplasia appear to be significant dwarfism with an enlarged head and a narrow thorax associated with enlargement of the hands and feet, and the radiographic 'dumb-bell' appearance of the long bones.

[Obstetric outcome of the malformed uterus. Study of 155 pregnancies].

Gynecological and obstetrical pathologies are considered in 155 pregnancies involving uterine deformity. Evaluation of their relative importance shows that maintenance of pregnancy is more important than pregnancy per se. Certain rules are proposed for treatment and obstetrical management of such pregnancies.

[Non-immunologic hydrops fetalis and congenital chylothorax].

A child was born at the 37th week of pregnancy with hydrops fetalis. Hydramnios and hydrothorax had been proven by fetal ultrasonography. No fetal or maternal etiology was found.

[Echography of the corpus luteum].

The authors analyse the ultrasound aspects of normal and abnormal corpora lutea after reviewing the techniques for studying ovaries. The abnormalities include unruptured luteal follicles, cystic corpora lutea, haemorrhage into corpora lutea and ovarian hyperstimulation.

[Problem in echographic diagnosis: intrauterine pseudo-sac].

The authors report eight cases of an intra-uterine pseudo-sac giving a wrong diagnosis of intra-uterine pregnancy. In two cases there was hypertrophy of the uterine mucosa and in six cases there was decidual change. The pseudo-sac corresponds to: either a blood clot held by the uterine mucosa; or a marked hypertrophy of the endometrium with intense decidualization and massive oedema.