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 diagnosis of Pierre Robin Sequence: accuracy and ability to predict phenotype and functional severity.

Objective: To assess the outcome of fetuses who had sonographic features suggestive of Pierre Robin Sequence (PRS).

Method: All prenatal ultrasounds that mentioned 'posterior cleft palate', or 'micro or retrognathia' or 'PRS' over 13 and 20 years, respectively, at two obstetrical centers were reviewed. Medical records for children with isolated PRS monitored over 20 years at a PRS referral center for prenatal anomalies and the severity of neonatal feeding and respiratory functional disorders were utilized for comparison.

Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.

The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital malformation syndrome caused by dehydrocholesterol reductase deficiency. The diagnosis is confirmed by high 7- and secondarily 8-dehydrocholesterol levels in plasma and tissues and/or by detection of biallelic mutations in the DHCR7 gene. The phenotypic spectrum of SLOS is broad, ranging from a mild phenotype combining subtle physical anomalies with behavioral and learning problems, to a perinatally lethal multiple malformations syndrome.

Prenatal diagnosis of main stem bronchial atresia using 3-dimensional ultrasonographic technologies.

Objective: The purpose of this series was to report the contribution of 3-dimensional ultrasonographic (3DUS) technologies in performing the prenatal diagnosis of main stem bronchial atresia (BA).

Methods: We report 2 cases in which the prenatal diagnosis of main stem BA was performed using 3DUS technologies. Both fetuses presented with extremely enlarged hyperechoic right lungs, shifting the mediastinum to the left, associated with hydrops and polyhydramnios.

Three-dimensional ultrasonographic measurements of the fetal lungs for prediction of perinatal outcome in isolated congenital diaphragmatic hernia.

Aim: To evaluate the potential of different lung measurements using three-dimensional ultrasonography (3D-US) to predict perinatal outcome in isolated congenital diaphragmatic hernia (CDH).

Methods: Twenty-one fetuses presenting isolated CDH were prospectively evaluated by 3D-US between January 2002 and November 2003. Observed/expected total, contralateral and ipsilateral fetal lung volume ratios (o/e-TotFLV, o/e-ContFLV and o/e-IpsiFLV, respectively) were calculated using the rotational technique and ultrasonographic fetal total lung volume to bodyweight ratio (USFLW).

Ipsilateral lung volumes assessed by three-dimensional ultrasonography in fetuses with isolated congenital diaphragmatic hernia.

Objective: To evaluate the precision of three-dimensional ultrasonography (3DUS) in estimating the ipsilateral lung volume and the potential of this measurement to predict neonatal death in congenital diaphragmatic hernia (CDH).

Methods: Between January 2002 and December 2004, the ipsilateral lung volumes were assessed by 3DUS using the technique of rotation of the multiplan imaging in 39 fetuses with CDH. The observed/expected ipsilateral lung volume ratios (o/e-IpsiFLVR) were compared to the lung/head ratios (LHR) and to the observed/expected total fetal lung volume ratios (o/e-TotFLVR) as well as to postnatal death.

Predicting neonatal deaths and pulmonary hypoplasia in isolated congenital diaphragmatic hernia using the sonographic fetal lung volume-body weight ratio.

Objective: The objective of our study was to evaluate the potential of the sonographic fetal lung volume-body weight ratio to predict neonatal deaths and pulmonary hypoplasia in fetuses with isolated congenital diaphragmatic hernia (CDH).

Subjects And Methods: Between January 2002 and December 2004, 40 fetuses with isolated CDH and 450 control subjects were prospectively evaluated in two centers. Fetal lung volumes were estimated on 3D sonography using the rotational technique and fetal weight on 2D sonography using the Hadlock equation.

Predicting perinatal outcome in isolated congenital diaphragmatic hernia using fetal pulmonary artery diameters.

Objective: The aim of the study was to evaluate the potential of fetal pulmonary artery (PA) diameters to predict perinatal death and pulmonary arterial hypertension (PAH) in congenital diaphragmatic hernia (CDH).

Study Design: In this prospective observational study, observed PA (main, right, and left) diameters were measured at the level of the 3 vessels in 21 fetuses with isolated CDH and in 85 controls at 22 to 36 weeks. The observed/expected (o/e) diameters of the main, contralateral, and ipsilateral PAs were calculated by comparing these measurements with reference values obtained in our previous study and correlated with perinatal death and postnatal PAH.

Three-dimensional sonographic measurement of contralateral lung volume in fetuses with isolated congenital diaphragmatic hernia.

Purpose: To use 3-dimensional sonography (3DUS) to measure contralateral lung volume and evaluate the potential of this measurement to predict neonatal outcome in isolated congenital diaphragmatic hernia (CDH).

Methods: Between January 2002 and December 2004, the contralateral lung volumes of 39 fetuses with isolated CDH were measured via 3DUS using rotational multiplanar imaging. The observed/expected contralateral fetal lung volume ratios (o/e-ContFLVR) were compared with the lung/head ratio (LHR), observed/expected total fetal lung volume ratio (o/e-TotFLVR), and postnatal outcome.

Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2.

We describe two fetal cases of microphthalmia/anophthalmia, pulmonary agenesis, and diaphragmatic defect. This rare association is known as Matthew-Wood syndrome (MWS; MIM 601186) or by the acronym "PMD" (Pulmonary agenesis, Microphthalmia, Diaphragmatic defect). Fewer than ten pre- and perinatal diagnoses of Matthew-Wood syndrome have been described to date.

Prenatally diagnosed sacrococcygeal teratoma: a prognostic classification.

Purpose: The objective of this study is to describe a prognostic classification for prenatally diagnosed sacrococcygeal teratoma (SCT).

Methods: Charts from 44 fetuses were reviewed. Three groups were defined as follows: group A--tumor diameter less than 10 cm, absent or mild vascularity and slow growth; group B--diameter 10 cm or greater, pronounced vascularity or high-output cardiac failure and fast growth; group C--diameter 10 cm or greater, predominantly cystic lesion with absent or mild vascularity and slow growth.

Quantitative analysis of fetal pulmonary vasculature by 3-dimensional power Doppler ultrasonography in isolated congenital diaphragmatic hernia.

Objective: The purpose of this study was to evaluate the potential of 3-dimensional (3D) power Doppler imaging to predict neonatal outcome and pulmonary arterial hypertension (PAH) in congenital diaphragmatic hernia (CDH).

Study Design: In this prospective observational study, 3D-power Doppler ultrasonography was performed in 21 cases with isolated CDH between 23 and 33 weeks of gestation and in 58 controls between 20 and 40 weeks. Using the same preestablished settings for all cases, power Doppler was applied to each lung, and fetal lung volumes (FLV) were estimated using the rotational technique.

A nomogram of fetal lung volumes estimated by 3-dimensional ultrasonography using the rotational technique (virtual organ computer-aided analysis).

Objective: The purpose of this study was to build a nomogram of normal fetal lung volumes throughout gestational age estimated by 3-dimensional ultrasonography using the rotational technique (Virtual Organ Computer-Aided Analysis [VOCAL]; GE Healthcare, Kretztechnik, Zipf, Austria).

Methods: Fetal lung volume was assessed in 146 healthy fetuses by 3-dimensional ultrasonography using the technique of rotation of the multiplanar imaging (VOCAL). Inclusion criteria were healthy women with singleton normal pregnancies, normal fetal morphologic ultrasonographic findings, reliable dating established by dates and by ultrasonographic measurement of the crown-lump length in the first trimester, and gestational age from 20 to 37 weeks.

De novo monosomy 9p24.3-pter and trisomy 17q24.3-qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucency.

Objectives: Increased nuchal translucency (NT) during the first trimester of pregnancy is a useful marker to detect chromosomal abnormalities. Here, we report a prenatal case with molecular cytogenetic characterisation of an abnormal derivative chromosome 9 identified through NT.

Methods: Amniocentesis was performed because of an increased NT (4.

The impact of 3-dimensional ultrasonography on perinatal management of a large epignathus teratoma without ex utero intrapartum treatment.

We report a case of epignathus teratoma diagnosed at 22 weeks of gestation in which 3-dimensional ultrasound (3DUS) was useful to plan perinatal management. A significant enlargement of the tumor, associated with polyhydramnios and preterm labor, was observed at 35 weeks of gestation. After amniotic fluid evacuation, 3DUS was performed in the presence of pediatricians, obstetricians, and otolaryngologists.

Sonography in prenatal diagnosis of congenital adrenal hyperplasia.

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with an incidence of 1/15 000. More than 90% of CAH cases result from mutations of CYP21, leading to 21-hydroxylase deficiency. In its classical form, CAH is severe and consists of the virilizing (increase of androgens) and salt-wasting (lack of aldosterone) phenotype.

Evaluation of fetal pulmonary vasculature by power Doppler imaging in congenital diaphragmatic hernia.

Objective: To evaluate the feasibility of prenatal power Doppler imaging of pulmonary arteries in congenital diaphragmatic hernia and to study its potential to predict outcome.

Methods: A prospective observational study was conducted. Forty-two cases of congenital diaphragmatic hernia (32 left and 10 right) without associated anomalies were analyzed.

Three-dimensional ultrasonographic assessment of fetal lung volume as prognostic factor in isolated congenital diaphragmatic hernia.

Objective: To evaluate the potential of three-dimensional ultrasound to predict outcome in congenital diaphragmatic hernia.

Design: Prospective observational study.

Setting: Tertiary care centre.

Volume contrast imaging: A new approach to identify fetal thoracic structures.

Objective: To assess the potential of volume contrast imaging for evaluation of fetal intrathoracic structures.

Methods: Volume contrast imaging is a new ultrasonographic method that increases the contrast between tissues. It consists of a 5- to 10-mm-thick slice-shaped volume image projected on a 2-dimensional screen.

Fetal lung volume estimated by 3-dimensional ultrasonography and magnetic resonance imaging in cases with isolated congenital diaphragmatic hernia.

Objective: To assess the agreement of 3-dimensional ultrasonography and magnetic resonance imaging in estimating fetal lung volume in cases with isolated congenital diaphragmatic hernia.

Methods: Fetal lung volume was measured in 11 cases of congenital diaphragmatic hernia (10 left and 1 right) by 3-dimensional ultrasonography and magnetic resonance imaging. These examinations were performed during the same week.

Prenatal sonographic diagnosis of congenital hiatal hernia.

Objectives: To report a rare case of congenital hiatal hernia illustrating the importance of its prenatal diagnosis as well as to discuss the prenatal sonographic criteria.

Case Report: A case of congenital hiatal hernia was diagnosed by ultrasound at 33 weeks of gestation. After a normal second-trimester morphologic ultrasound examination, a hypoechogenic mass was detected in the posterior mediastinum juxtaposed to the vertebral body and seemed to be in continuity with the intra-abdominal stomach bubble.

Perinatal three-dimensional color power Doppler ultrasonography of vein of Galen aneurysms.

Objective: To present the prenatal and postnatal three-dimensional color power Doppler ultrasonographic features in cases of vein of Galen aneurysmal malformation.

Methods: Prenatal three-dimensional color power Doppler ultrasonography was used to image the neurovascular malformations in 3 fetuses with vein of Galen aneurysms and in unaffected control fetuses at the same gestational age. Postnatal transfontanel three-dimensional power Doppler ultrasonography was also performed in the third affected case and in an unaffected control neonate.

Can three-dimensional ultrasound be used for the assessment of the fetal lung volume in cases of congenital diaphragmatic hernia?

We report on 2 fetuses with congenital diaphragmatic hernia (CDH) in whom the fetal lung volumes were estimated by three-dimensional ultrasound and the results compared with the postmortem lung volume measurements. Both examiners (sonographer and pathologist) were blinded to each other's results. The 1st case was a right CDH diagnosed at 20 weeks of gestation.

Prenatal diagnosis of diastematomyelia.

Introduction: Diastematomyelia, also termed split cord malformation, is a form of occult spinal dysraphism characterized by a cleft in the spinal cord. Prenatal diagnosis of this anomaly is possible by ultrasonography (US), and fetal MRI can be used to diagnose the type of diastematomyelia precisely. Diastematomyelia can be isolated or associated with other dysraphisms, segmental anomalies of the vertebral bodies, or visceral malformations (horseshoe or ectopic kidney, utero-ovarian malformation, and anorectal malformation).