[Management of a fetus suspected of differences of sex development (DSD).].

The management of a fetus suspected of having a variation in genital development is a complex situation. In cases of complete discordance or an unusual appearance of the external genitalia (EG), management always begins with a diagnostic morphological ultrasound. This ultrasound aims to provide detailed imaging of the EG and internal genitalia (IG), focusing on identifying the presence of Müllerian derivatives and detecting any associated malformations.

Prenatal Diagnosis of Primrose Syndrome.

Primrose syndrome is a very rare congenital malformation. Symptoms of this disorder may appear during childhood, but the diagnosis is identified in adulthood in the majority of cases. The prenatal diagnosis of Primrose syndrome is not developed in the literature.

MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy.

Pyruvate is an essential metabolite produced by glycolysis in the cytosol and must be transported across the inner mitochondrial membrane into the mitochondrial matrix, where it is oxidized to fuel mitochondrial respiration. Pyruvate import is performed by the mitochondrial pyruvate carrier (MPC), a hetero-oligomeric complex composed by interdependent subunits MPC1 and MPC2. Pathogenic variants in the MPC1 gene disrupt mitochondrial pyruvate uptake and oxidation and cause autosomal-recessive early-onset neurological dysfunction in humans.

[Antenatal ear examination: When, how and why?].

Antenatal ear examination is an integral part of the thorough examination of the fetal face. The discovery of an anomaly, whether it is made by chance or during a complementary in-depth examination, leads the practitioner to determine its isolated or associated character, in order to characterise its possible belonging to a syndromic entity. In this context, the realization of genetic analysis more precise and wider allowing a return of the results in a time compatible with an evolutive pregnancy, gives to the geneticist a central role in the management of these couples.

Feasibility and Added Value of Fetal DTI Tractography in the Evaluation of an Isolated Short Corpus Callosum: Preliminary Results.

Background And Purpose: Prognosis of isolated short corpus callosum is challenging. Our aim was to assess whether fetal DTI tractography can distinguish callosal dysplasia from variants of normal callosal development in fetuses with an isolated short corpus callosum.

Materials And Methods: This was a retrospective study of 37 cases referred for fetal DTI at 30.

Prenatal description of retinal coloboma.

Retinal coloboma is a rare condition which is difficult to diagnose in foetuses. It can cause blindness. It can be isolated or associated with other malformations in various syndromes.

Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.

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.

[Abnormalities of umbilical-portal circulation: From screening to diagnosis].

Abnormalities of umbilical-portal circulation are rare pathologies whose detection points in screening ultrasound are poorly taught. It can present as an unusual looking portal sinus, an abnormal trajectory of the umbilical vein, an anechoic intrahepatic image or more rarely as cardiomegaly. This can also be detected in the context of investigations of fetus with intrauterine growth retardation.

Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.

EPG5-related Vici syndrome is a rare multisystem autosomal recessive disorder characterized by corpus callosum agenesis (ACC), hypopigmentation, cataracts, acquired microcephaly, failure to thrive, cardiomyopathy and profound developmental delay, and immunodeficiency. We report here the first case of prenatally diagnosed Vici syndrome with delayed gyration associated with ACC. Trio based exome sequencing allowed the identification of a compound heterozygous mutation in the EPG5 gene.

Think of the Conus Medullaris at the Time of Diagnosis of Fetal Sacral Agenesis.

Background: There is no precise prenatal indicator to refine an accurate prognosis in case of sacral agenesis and to define the diagnostic approach and outcome criteria in case of fetal sacral agenesis using 3 characteristics of the conus medullaris (CM): its position, its appearance, and associated spinal abnormalities.

Methods: Ten cases of prenatally diagnosed sacral agenesis were included between 1995 and 2014 after collating ultrasound findings and prenatal computed tomography data.

Results: Two cases of total sacral agenesis and 8 of partial agenesis were included.

Prenatal Associated Features in Fetuses Diagnosed with an Aberrant Right Subclavian Artery.

Objective: The objective of this study was to determine the frequency and the nature of associated anomalies, especially malformations and chromosome abnormalities, in a population of fetuses with an aberrant right subclavian artery (ARSA).

Materials And Methods: This is a 7-year descriptive study. All patients whose fetus had an ARSA diagnosed by ultrasound performed during the 1st, 2nd, or 3rd trimester of pregnancy were included, regardless of their risk of chromosomal abnormalities.

[Prenatal three-vessel and tracheal view: abnormal features].

Good knowledge of normal characteristics of prenatal three vessels and trachea view allows not only to detect, but also to identify abnormalities such as normal variants and malformations of interest to main vessels (trunk of the pulmonary artery and its branches, the aorta and the superior vena cava) and various vascular structures in the anterior-superior mediastinum. These abnormalities may be isolated or associated with other anomalies of cardiac architecture.

[Prenatal three-vessel and tracheal view: normal features].

Congenital heart disease (CG) are mostly from a low-risk population. Their screening should be based on reproducible and easy to use methods. Prenatal echocardiographic analysis is based primarily on the analysis of the four chambers and great vessels.

Prenatal abnormal features of the fourth ventricle in Joubert syndrome and related disorders.

Joubert syndrome and related disorders (JSRD) are characterized by absence or underdevelopment of the cerebellar vermis and a malformed brainstem. This family of disorders is a member of an emerging class of diseases called ciliopathies. We describe the abnormal features of the brain, particularly the fourth ventricle, in seven fetuses affected by JSRD.

Prenatal visualization of the pituitary gland using 2- and 3-dimensional sonography: comparison to prenatal magnetic resonance imaging.

The pituitary gland is crucially important in the function of the endocrine axis. So far, antenatal depiction of the pituitary gland was possible only using magnetic resonance imaging. We describe antenatal visualization of the pituitary gland using 2- and 3-dimensional sonography.

[Prenatal diagnosis and management of foetal lung lesions].

Introduction: Foetal lung lesions are uncommon (<1/1000 deliveries). Prenatal ultrasound can distinguish echogenic and cystic lesions.

Background: The most frequently diagnosed abnormalities are congenital cystic adenomatoid malformation (echogenic and/or cystic), pulmonary sequestration (echogenic), congenital lobar emphysema (echogenic) and bronchogenic cyst (cystic).

Williams-Beuren syndrome: the prenatal phenotype.

Using prenatal BACs-on-Beads technology, the first prenatal case of Williams-Beuren syndrome (WBS) was diagnosed. In light of this result, an ultrasound scan confirmed the presence of well-characterized features of WBS. This case report emphasizes the fact that new genomic technologies will generate prenatal information and provide helpful additional information.

Role of three-dimensional ultrasound measurement of the optic tract in fetuses with agenesis of the septum pellucidum.

Objectives: To construct reference ranges for fetal optic tract mean diameter and to report measurements in fetuses with agenesis of the septum pellucidum (SP).

Methods: Three-dimensional volumes of the optic chiasm were acquired in 98 normal fetuses during routine sonographic examination at 21-36 weeks' gestation and the diameters of the posterior left and right optic tracts were measured offline. A polynomial regression approach (mean and SD model) was used to compute reference charts for the mean fetal optic tract diameter measurements.