[Antenatal ear examination: When, how and why?] / L'examen des oreilles en anténatal : quand, comment et pourquoi ?

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. The main challenge lies in obtaining a set of concordant clinical and biological clues, enabling the genetic results identified to be interpreted correctly, the optimised functioning of the ultrasound practitioner - geneticist duo is therefore fundamental. This results in a complex information to deliver, in the fact that the clinical translation of an ear anomaly in antenatal can go from an isolated aesthetic anomaly to a genetic syndrome with neurodevelopmental disorder. The objective of this work is to describe, from a methodological analysis of antenatal ears, the accessible malformative entities, isolated or associated, and to discuss the problems in the need or not to propose their screening.

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 30.4 weeks (range, 25-34 weeks) because of an isolated short corpus callosum less than the 5th percentile by sonography at 26 weeks (range, 22-31 weeks). Tractography quality, the presence of Probst bundles, dysmorphic frontal horns, callosal length (internal cranial occipitofrontal dimension/length of the corpus callosum ratio), and callosal thickness were assessed. Cytogenetic data and neurodevelopmental follow-up were systematically reviewed. RESULTS: Thirty-three of 37 fetal DTIs distinguished the 2 groups: those with Probst bundles (Probst bundles+) in 13/33 cases (40%) and without Probst bundles (Probst bundles-) in 20/33 cases (60%). Internal cranial occipitofrontal dimension/length of the corpus callosum was significantly higher in Probst bundles+ than in Probst bundles-, with a threshold value determined at 3.75 for a sensitivity of 92% (95% CI, 77%-100%) and specificity of 85% (95% CI, 63%-100%). Callosal lipomas (4/4) were all in the Probst bundles- group. More genetic anomalies were found in the Probst bundles+ than in Probst bundles- group (23% versus 10%, P = .08). CONCLUSIONS: Fetal DTI, combined with anatomic, cytogenetic, and clinical characteristics could suggest the possibility of classifying an isolated short corpus callosum as callosal dysplasia and a variant of normal callosal development.

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. Our objective is to describe the different prenatal ultrasound findings and management of coloboma. We describe a case of prenatal ultrasound diagnosis of retinal coloboma at 27.5 weeks of gestation. Our case adds to the 8 previously reported in the prenatal ultrasound literature, which together illustrate that microphthalmia is the main associated sign, present in 66.6% (6/9) of cases followed by retro-orbital cysts (44.4%) (4/9). These two ultrasound findings should alert us to a close examination of the eye to look for a posterior retinal cleft, the main direct sign of a chorioretinal coloboma.

[Abnormalities of umbilical-portal circulation: From screening to diagnosis]. / Anomalies de la circulation ombilico-portale : du dépistage au diagnostic.

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. Subsequently, the starting point of the diagnostic approach is based on the following dichotomy: does the umbilical vein penetrate or not into the liver, followed by systematic analysis of the trajectory and size of the umbilical-portosystemic vessels with color Doppler. Determining the prognosis of this abnormality, which varies according to the type, is a major challenge and by further studying this disorder in this project, it will help define what surveillance is required and subsequently help decide the most appropriate place for delivery.

[Prenatal three-vessel and tracheal view: abnormal features]. / Coupe des trois vaisseaux et de la trachée en période prénatale : aspects anormaux.

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]. / Coupe des trois vaisseaux et de la trachée en période prénatale: aspects normaux.

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. The study of general admission pathways generalized since the 1980s is performed on an axial section while that of great vessels is performed in most countries more recently using several views and remains difficult. We review the features, under normal circumstances, of the three-vessel and tracheal view that allows via an axial section of the fetal thorax to assess at the same time the trunk of the main pulmonary artery and its branches, the convergence of the ductus arteriosus and the aortic arches, the superior vena cava, and the trachea. Furthermore, the use of color Doppler mode optimizes the information obtained by this view.

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. In three cases abnormality of the fourth ventricle was isolated and in four cases there were associated malformations. The molar tooth sign (MTS) was always present and visible on two-dimensional ultrasound and, when performed, on three-dimensional ultrasound and magnetic resonance imaging. The fourth ventricle was always abnormal, in both axial and sagittal views, presenting pathognomonic deformities. It is important to identify JSRD, preferably prenatally or at least postnatally, due to its high risk of recurrence of about 25%. A detailed prenatal assessment of the fourth ventricle in several views may help to achieve this goal.

[Prenatal diagnosis and management of foetal lung lesions]. / Malformations pulmonaires congénitales : diagnostic et prise en charge anténataux.

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). Most of them carry a good prognosis but complications, including foetal hydrops, may occur and should be looked for regularly prenatally. Congenital upper airway obstruction syndromes are very rare and carry a very poor prognosis. VIEWPOINT: The follow-up of these pregnancies should be undertaken in a tertiary centre and information regarding postnatal management should be given prenatally by the doctors who will care for the infant after birth. Serial ultrasound examinations are required to evaluate the natural history and detect complications. Spontaneous regression may occur. The occurrence of foetal hydrops is usually fatal in the absence of treatment and should be managed as an emergency. CONCLUSIONS: Congenital malformations of the lung are rare and usually carry a good prognosis. Careful follow-up and delivery should be performed in a tertiary centre and postnatal investigation should include clinical and radiological evaluation.

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. In addition, 23 volumes were acquired in fetuses with SP agenesis for offline measurement of optic tract diameter. Complete follow-up was obtained in 13 of these 23 cases. RESULTS: In normal fetuses, the optic tract diameter increased linearly throughout gestation. There was no evidence of increased variability with gestational age (constant SD). Normal charts and equations for Z-score calculation were constructed. Among the 13 fetuses with SP agenesis and complete follow-up, nine had normal measurements, of which eight had normal vision postnatally. Four had hypoplastic optic tract, defined as mean optic tract diameter Z-score below - 3. Of these, two underwent termination of pregnancy and pathological examination confirmed hypoplasia of the tract, one showed signs of hypoplasia at magnetic resonance imaging and postnatal examination confirmed blindness, and one had a hypoplastic measurement for only one tract and was born with poor vision and abnormal bilateral eye movements. CONCLUSION: We present new reference charts for mean fetal optic tract diameter. In fetuses with agenesis of the SP, sonography of the optic tract might be a useful tool to assess its development and may help in prenatal counseling.

[Screening for Down syndrome using first-trimester combined screening followed by second trimester ultrasound examination in an unselected population]. / Dépistage de la trisomie 21 par le test combiné du premier trimestre suivi par l'échographie du second trimestre en population générale.

BACKGROUND: Recent studies have reported the efficacy of first trimester combined screening for Down Syndrome based on maternal age, serum markers (human chorionic gonadotropin, pregnancy-associated plasma protein A), and ultrasound measurement of fetal nuchal translucency. However, those do not incorporate the value of the widely accepted routine 20-22 week anomaly scan. STUDY DESIGN: We carried out a multi-centre, interventional study in the unselected population of a single health authority in order to assess the performance of first trimester combined screening, followed by routine second trimester ultrasound examination and/or screening by maternal serum markers (free beta-hCG and alpha-fetoprotein measurement or total hCG, alpha-fetoprotein and unconjugated estriol measurement) when incidentally performed. Detection and screen positive rates were estimated using a correction method for non verified issues. A cost analysis was also performed. RESULTS: During the study period, 14,934 women were included. Fifty-one cases of Down Syndrome were observed, giving a prevalence of 3.4 per 1000 pregnancies. Of these, 46 were diagnosed through first (N=41) or second (N=5) trimester screening. Among the 5 screen-negative Down syndrome cases, all were diagnosed postnatally after an uneventful pregnancy. Detection and screen positive rates of first trimester combined screening were 79.6% and 2.7%, respectively. These features reached 89.7 and 4.2%, respectively when combined with second trimester ultrasound screening. The average cost of the full screening procedure was 108 euro (120 $) per woman and the cost per diagnosed Down syndrome pregnancy was 7,118 euro (7,909 $). CONCLUSION: Our findings suggest that one pragmatic interventional two-step approach using first-trimester combined screening followed by second trimester detailed ultrasound examination is a suitable and acceptable option for Down syndrome screening in pregnancy.

Lupus erythematosus proliferative glomerulonephritis in fetus.

We report the case of a fetus with proliferative glomerulonephritis in the context of maternal systemic lupus erythematosus (SLE). The pattern of the renal lesions correspond to the class III of revisited WHO classification of glomerulonephritis in SLE. Amniotic fluid analysis showed a high level of albumin and the presence of anti-Ro and anti-DNA antibodies that were possibly responsible for the renal injury.

[One more step in network development: a community-based perinatal program]. / Un pas de plus dans le travail en réseau: les communautés périnatales de suivi de grossesse.

In France, a wide range of healthcare workers provide care for pregnant women and their infants including general practitioners and specialists working in a private or public setting and midwives (again in a private or public hospital practice). The respective competencies of each category of healthcare workers is not currently evaluated and their individual actions are rarely coordinated. This raises the question of equal opportunity for future mothers. In light of this situation, we developed an innovating concept aimed at improving pregnancy follow-up in a coordinated effort implicating all the different categories of healthcare workers involved in perinatal care: the pregnancy follow-up perinatal community.

[First trimester Down syndrome screening program using nuchal translucency and maternal serum markers: the Echo PAPP-A.78 study]. / Programme de dépistage de la trisomie 21 dans les Yvelines par mesure échographique de la clarté nucale et mesure des marqueurs sériques maternels au 1er trimestre de la grossesse. Etude Echo PAPP-A.78.

Successive development of different methods to screen down syndrome (DS) have had unexpected effects, leading to an inflation in the number of karyotypes ordered and the number of induced abortions. In our district (Yvelines, France), DS screening leads to perform 16% karyotypes rate. Rapid progress in biology and ultrasonography has enabled us to correct this overprescription by conducting an early screening program using a combination of ultrasound graphic and new biochemical markers (Pregnancy-associated plasma protein A and the free fraction of ss-hCG) which allow an overall evaluation of risk. This method has high sensitivity (85%) and leads to a false positive rate karyotypes in about 5% of pregnancies. The purpose of the study conducted between January 1, 2001 and December 31, 2002 in the Yvelines was to confirm the validity of this method and determine its reproducibility in routine practice. Five partners contributed to the study: the Regional delegation for clinical research of the Paris-public assistance hospitals (AP-HP), the district health insurance fund (CPAM 78), the Yvelines maternity network which includes all ten maternity wards in the district, and the Echo 78 association which includes all ultrasoundgraphists working in the district who accepted to participate as investigators, as well as five biology laboratories where DS screening was performed.