Prenatal screening and diagnosis of pulmonary artery anomalies.

Congenital pulmonary artery anomalies are rare. Their antenatal diagnosis requires good knowledge of fetal cardiac anatomy because their clinical presentation varies depending on the type and severity of the underlying lesion. Screening of these vascular anomalies can be straightforward in some cases because of significant associated consequences that are detected easily on ultrasound, while other anomalies have considerably less obvious features. There may be an associated genetic syndrome. The aim of this review was to define anomalies of the main pulmonary artery and its branches and to propose, through the identification of suspicious findings during routine antenatal heart examination, an optimal screening method for the pulmonary artery pathway. We propose that pulmonary artery anomalies can be classified antenatally into four types of disorder. Herein we describe 14 cases subgrouped accordingly as: anomalies of the pulmonary valvular region, with stenosis or atresia of the valve (n = 4); conotruncal abnormalities (n = 4); anomalies associated with abnormal origin or course of the pulmonary artery (n = 4); and anomalies associated with abnormal growth of the pulmonary artery and its branches (n = 2). We highlight the need to differentiate the three-vessel view from the three-vessel-and-trachea view when assessing a fetus with a congenital pulmonary artery anomaly. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

[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.

[Asynchronous Tele-Expertise (ASTE) in obstetrical ultrasound: Is it equivalent to face-to-face consultation?] / La Télé-Expertise asynchrone (TEAS) en échographie obstétricale : est-ce équivalent à la consultation en présentiel ?

INTRODUCTION: The demand for remote advice has expanded since the advent of information and communication technology. This study aims to evaluate the use of asynchronous tele-expertise (ASTE) in providing a quality expert opinion in the field of obstetric ultrasound. MATERIALS AND METHODS: Requests for expert opinions on pregnant patients were considered retrospectively over a 24-month period (01/09/2018 to 01/21/2020). All patients were initially seen in consultation with a midwife sonographer, located in Hyères, 82km from the expert's centre. In the event of unusual images, including one or more malformations on ultrasound screening, a second opinion was necessary. Responses were characterized as follows : possible or impossible to analyse images; ASTE alone or combined with a face-to-face consultation; and absence or presence of unusual images. Unusual images were classified as normal variants or recognised malformations. We analysed the outcomes of these pregnancies and assessed concordance between prenatal advice and postnatal outcome. RESULTS: During the study period, we identified 174 referrals from 141 patients. Requests for advice were made by 3/174 (1.7%), 69/174 (39.7%), and 102/174 (58.6%) in the first, second, and third trimester of pregnancy, respectively. Overall, 115/141 (81.6%), 21/141 (14.9%), 4/141 (2.8%), and 1/141 (0.7%) patients were provided with one, two, three, and five opinions, respectively. In total, 37/141 (26.2%) patients required a face-to-face consultation, resulting in 38/174 (21.8%) opinions (one patient was seen twice). At least one unusual image was found for 27/141 (19.2%) patients and no unusual images were reported for 114/141 (80.8%) patients. Analysis of the pregnancy outcomes revealed a perfect correlation between prenatal advice and postnatal data, both for cases with unusual images and those without. CONCLUSION: The preliminary results of our study reveal that ASTE is safe in terms of enabling an expert to answer a precise question formulated by a screener when confronted with images deemed to be unusual. Using this mode of communication, a tailored healthcare pathway may be defined for the mother and her foetus. This new type of practice cannot exist without establishing a genuine relationship of trust between the person requesting the opinion and the person who is asked to provide the opinion.

[Ultrasound scan of a fetus with facial cleft must be done from the lip to the uvula]. / L'examen échographique d'un fœtus porteur d'une fente faciale doit se faire depuis la lèvre supérieure jusqu'à la luette.

Facial cleft are the most frequent craniofacial anomalies with an incidence of one for 1000 births, all births combined, and require specialized multidisciplinary care. Since 2005, the systematic realization of two ultrasound views (nose-lip and profile) is recommended for the exploration of the fetal face in the 2nd trimester of pregnancy. Application of these recommendations should allow screening of the majority of cleft lip and palate. However, cleft palates, without labiomaxillary involvement, are currently largely underdiagnosed at prenatal ultrasound, although they can be associated with a syndromic diagnosis in up to 30% of cases. The aim of this work is to describe, from embryology to surgical consultation, the complete ultrasound examination of a fetus with a classic facial cleft.

Accuracy of qualitative and quantitative cranial ultrasonographic markers in first-trimester screening for open spina bifida and other posterior brain defects: a systematic review and meta-analysis.

BACKGROUND: The significant number of qualitative and quantitative ultrasound markers described for first-trimester screening of open spina bifida (OSB) and other posterior brain defects (oPBD) has resulted in their complex implementation and interpretation for a widespread screening and in a lack of consensus regarding diagnostic accuracy. OBJECTIVES: To assess and compare the accuracy of qualitative and quantitative cranial sonographic markers at 11-14 weeks of gestation for the detection of OSB and oPBD. SEARCH STRATEGY: A systematic literature search was performed in MEDLINE and COCHRANE from 2009 to April 2020. SELECTION CRITERIA: Studies assessing the diagnostic accuracy of quantitative and/or qualitative ultrasound signs to predict OSB and oPBD were included. Cohort studies and case-control studies were also considered. DATA COLLECTION AND ANALYSIS: Two reviewers independently extracted data and assessed the risk of bias. The overall pooled estimate and a summary receiver operating characteristic curve was estimated for each subgroup (qualitative and quantitative assessment). MAIN RESULTS: Twenty-three studies were included in our meta-analysis. The pooled sensitivity and specificity for qualitative assessment were 76.5% and 99.6%, and for quantitative assessment were 84.5% and 96.3%, respectively; specificity for the qualitative ultrasound signs was significantly higher (P = 0.001). The overall sensitivity of cranial sonographic markers for the screening of oPBD was 76.7% and specificity was 97.5%. CONCLUSIONS: The qualitative approach demonstrated greater specificity, so this would appear to be more appropriate for daily screening, as a first-line tool, whereas the quantitative approach should be reserved for expert ultrasound. TWEETABLE ABSTRACT: This study highlights the relevance of first-trimester qualitative ultrasound signs in the screening of open spina bifida.

[The left outflow tract: Abnormal features]. / La voie d'éjection gauche : aspects inhabituels.

The good knowledge of the characteristics of the left outflow tract allows us to detect but also to identify anomalies such as conal VSD and conotruncal anomalies. The analysis of this specific area of the heart must always be performed as part of a global analysis of the outflow tracts, combining the analysis of the right outflow tract with the assessment of the three vessel and trachea view.

[The left outflow tract: Normal features]. / La voie d'éjection gauche : aspects habituels.

Congenital heart disease remains an important cause of perinatal morbidity and mortality. Screening for these is based on a good knowledge of normal fetal heart anatomy and ultrasound views to be performed. After recommending the use of the four chambers and the right outflow tract views in 2005, CNEOF proposes recently adding the left outflow tract assessment. The use of this one should sensitize the operator to the notion of sweeping essential to obtain all these views and make it possible to improve the detection of the conal VSD and conotruncal pathologies.

[Medical simulation as a tool in the training of perinatal professionals]. / La simulation médicale comme outil dans la formation des professionnels de la périnatalité.

Though technology plays an increasingly important role in modern health systems, human performance remains a major determinant of safety, effectiveness and efficiency of patient care. This is especially true in the delivery room. Thus, the training of professionals must aim not only for the acquisition of theory and practical skills on an individual basis, but also for the learning of teamwork systematically. Training health professionals with simulation enhances their theoretical knowledge and meets formal requirements in literacy, technical skills and communication. Therefore, we intend to explore how, in perinatal care, training with simulation is actually a key teaching tool in initial education and in perpetuation of knowledge. We will approach three main aspects: individual, collective (team) and the impact of simulation in medical practice. The choice of this educational strategy improves the clinical skills that are required for optimal performance in complex, unpredictable and high-stake environments such as the delivery room. Nonetheless, the long term clinical impact of simulation and whether it's modalities, technical or not, are beneficial to the mother and the newborn are areas still to be explored.

[How to deal with a fetal head circumference lower than the third percentile?] / Gestion prénatale des fœtus avec un périmètre crânien inférieur au 3e percentile.

The prenatal finding of a head circumference (HC) below the 3rd percentile (p) remains, in the same way as short femur or increased nuchal translucency with normal karyotype, one the most difficult situations for the praticionner in the setting of prenatal diagnosis. Microcephaly is a gateway to possible cerebral pathologies, but the main objective is to identify serious prenatal situations. A standardized HC measurement, the use of adapted reference tools and charts, longitudinal following of cephalic biometrics in high-risk situations, and systematic central nervous system analysis can increase the diagnostic performance of ultrasound which is often disappointing for microcephaly. The early distinction between associated or isolated microcephaly makes it possible to quickly orient the prenatal management and counseling. Fetal MRI and genetic counseling are fundamental in this context, making it possible to specify at best the etiological diagnosis and to provide assistance to the neuropediatrician in the establishment of an often uncertain prognosis. The recent increase in cases of microcephaly concomitant with the epidemic of the ZIKA virus is an additional argument to improve our practices and the daily apprehension of HC<3rd p.

[Ultrasound of the fetal urinary system during the first trimester of pregnancy]. / Échographie de l'appareil urinaire fœtal au 1er trimestre de la grossesse.

The detection of abnormalities of the fetal urinary system in the first trimester of pregnancy is constantly improving, namely owing to the improved resolution of the image, the use of the endovaginal approach and thanks to sonographers' constant training. The pathological aspects, usually detected in the second trimester of pregnancy, can be suspected early in the first trimester and range from kidneys' cavity dilation to bilateral renal agenesis, polycystic kidney disease, multi-cystic dysplasia and bladder megavessia or bladder exstrophy. A poly-malformative syndrome is to be found out. The detection of an abnormality of the urinary tract requires a close ultrasound check. Very often, the pathological aspects tend to disappear spontaneously. In particular, the non-visualization of the bladder requires repeated examinations during the same session or even a little later in the pregnancy. We will carry out a review of the literature by pointing out the usual and unusual aspects of the fetal urinary system visible in the first trimester and we will as well propose an algorithm describing how to deal with abnormalities of the urinary tract that can be found out at first trimester ultrasound.