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.

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.

Basic heart examination: feasibility study of first-trimester systematic simplified fetal echocardiography.

OBJECTIVE: First-trimester fetal cardiac screening examinations in low-risk populations should not have to meet the specifications required for high-risk populations. Our aim was to evaluate a simplified fetal echocardiographic ('basic heart') examination for early detection of severe congenital heart defects in a low-risk population. METHODS: This was a first-trimester national 'flash study', performed over a 2-week period. Each observer was requested to perform simplified echocardiography without modifying the time and methods deemed necessary for the routine first-trimester ultrasound examination, in fetuses with crown-rump length between 45 and 84 mm. This basic heart assessment used targeted cross-sections of the four-chamber view (4CV) and of the three vessels and trachea (3VT) view, using color and/or directional power Doppler. All examinations were then reviewed offline and scored for quality by a qualified expert. RESULTS: Sixty observers performed a total of 597 first-trimester ultrasound examinations, each performing an average of 10 (range, 1-26) procedures. Examinations were conducted transabdominally (79%; 472/597), transvaginally (3%; 17/597) or both (18%; 108/597). In 8% (45/597) of cases, the fetal back was anterior, in 18% (108/597) it was on the left side, in 63% (377/597) it was posterior and in 11% (67/597) it was on the right side. It became clear during scoring by the expert that, unlike the Herman quality score for nuchal translucency measurement, it was difficult to assess the quality of these images without taking into account normality of the heart itself. Analysis of scores showed that the 4CV was obtained successfully and was deemed normal in 86% (512/597) of the patients, in 7% (41/597) it was deemed technically infeasible and in 7% (44/597) it was deemed feasible but atypical, which may have been due to the presence of an abnormality or to poor quality of the image. The 3VT view was obtained successfully and was normal in 79% (472/597) of the patients, in 13% (78/597) it was technically infeasible and in 8% (47/597) it was deemed feasible but atypical. Both the 4CV and the 3VT view were obtained successfully and were normal in 73% (435/597) of patients. CONCLUSION: It is possible for a trained operator to perform simplified fetal echocardiography during the routine first-trimester ultrasound examination in a low-risk population. In most cases, our basic heart examination can be used to reassure parents or identify potential problems to be clarified as early as possible in the second trimester. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

Distortion of the anterior part of the interhemispheric fissure: significance and implications for prenatal diagnosis.

In order to illustrate the significance of a new anatomical finding, distortion of the interhemispheric fissure (DIHF) associated with impacted medial borders of the frontal lobes, we report a retrospective observational study of 13 fetuses in which DIHF was identified on prenatal imaging. In 10 cases there were associated anatomical anomalies, including mainly midline anomalies (syntelencephaly (n=2), lobar holoprosencephaly (n=1), Aicardi syndrome (n=2)), but also schizencephaly (n=1), cortical dysplasia (n=1) and more complex cerebral malformations (n=3), including neural tube defect in two cases. Chromosomal anomaly was identified in two cases, including 6p deletion in a case without associated central nervous system anomalies and a complex mosaicism in one of the cases with syntelencephaly. In two cases, the finding was apparently isolated on both pre- and postnatal imaging, and the children were doing well at follow-up, aged 4 and 5 years. The presence of DIHF on prenatal imaging may help in the diagnosis of cerebral anomalies, especially those involving the midline. If DIHF is apparently isolated on prenatal ultrasound, magnetic resonance imaging is recommended for careful analysis of gyration and midline, especially optic and olfactory structures. Karyotyping is also recommended.

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.

Multivariate analysis identifies the estradiol level at ovulation triggering as an independent predictor of the first trimester pregnancy-associated plasma protein-A level in IVF/ICSI pregnancies.

STUDY QUESTION: Can independent predictors of pregnancy-associated plasma protein-A (PAPP-A) levels be identified in a group of women who conceived following IVF/ICSI? SUMMARY ANSWER: The significantly decreased PAPP-A level in IVF and ICSI pregnancies compared with non-IVF/ICSI pregnancies was correlated strongly with the serum estradiol (E2) level at ovulation triggering. WHAT IS KNOWN ALREADY: The first trimester prenatal combined screening test for fetal aneuploidies in pregnancies conceived following assisted reproduction techniques (ART) is complicated by an alteration of the maternal biomarkers free ß-hCG and PAPP-A, causing a higher false-positive rate compared with pregnancies which are conceived naturally. The use of controlled ovarian stimulation prior to IVF/ICSI is suggested to be the principle reason for these alterations of biomarkers in ART pregnancies. STUDY DESIGN, SIZE, DURATION: Between January 2010 and December 2011, 1474 women who conceived naturally and 374 women who conceived following IVF (n = 89), ICSI (n = 204) or intrauterine insemination (IUI, n = 81) were included in this retrospective study. Only singleton pregnancies were eligible for this study. For all women, serum analysis was performed in the same clinical laboratory. Measurement of nuchal translucency (NT) thickness was performed by four physicians belonging to the same infertility centre. PARTICIPANTS/MATERIALS, SETTING, METHODS: First-trimester combined screening test of aneuploidy parameters (maternal age, PAPP-A and free ß-hCG, NT thickness) were compared between non-ART and ART (IVF, ICSI and IUI) singleton pregnancies. Next, a minimal threshold E2 level at ovulation triggering was suggested for IVF/ICSI pregnancies above which the PAPP-A levels were significantly decreased compared with non-ART pregnancies. Finally, a multivariate analysis was performed to reveal independent predictors of PAPP-A level in IVF/ICSI pregnancies. MAIN RESULTS AND THE ROLE OF CHANCE: We showed a decrease of the multiple of the median (MoM) PAPP-A level in IVF and ICSI singleton pregnancies compared with non-ART singleton pregnancies (P < 0.001), with MoM values of 0.74 (0.16-3.16) and 0.81 (0.12-4.61) versus 0.98 (0.14-5.76), respectively. Analysis of variance of the overall model was highly significant (Fisher test 3.76, P = 0.01), indicating that the model explains a significant portion of the variation in the data. No difference in PAPP-A level was found between non-ART and IUI pregnancies. The free ß-hCG level and NT thickness did not differ between ART and non-ART pregnancies. PAPP-A levels in IVF and ICSI pregnancies were strongly correlated with the E2 level at ovulation triggering. We showed by multivariate analysis that an E2 cut-off level of 1300 pg/ml at the time of ovulation could predict a significantly lower PAPP-A level at first trimester combined screening (ß -0.239 ± 0.088, P < 0.005). LIMITATION, REASONS FOR CAUTION: The measures of biochemical markers can differ between laboratories and with the used equipment; therefore, extrapolation of the E2 cut-off level to other infertility centres should be undertaken with caution. WIDER IMPLICATIONS OF THE FINDINGS: One should be careful when using correction factors for ART patients undergoing the first trimester combined screening test. The proposed E2 cut-off level may help to identify a subgroup of women within the population of ART patients for whom use of a correction factor is justified. STUDY FUNDING/COMPETING INTEREST(S): None.

[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.

Prenatal diagnosis and evaluation of defect length in esophageal atresia using direct and indirect (tracheal print) signs.

The prenatal diagnosis of esophageal atresia is challenging. The length of the defect of the esophageal atretic portion is one of the parameters affecting outcome and prenatal evaluation of this length has not, to our knowledge, been described previously. We report on seven fetuses assessed prospectively which were suspected to have esophageal atresia. Targeted ultrasound examination of both fetal cervical and thoracic structures was performed in each case in order to assess prenatally the atretic portion. The length of the defect was assessed both directly, by visualizing the interruption of the hyperechoic lines representing the walls of the esophagus in a mid-sagittal view (n = 4), and indirectly, by means of the 'tracheal print' (n = 5). Both methods were used in three cases. Prenatal results were compared with postnatal or postmortem findings. The prenatal diagnosis of esophageal atresia was made correctly in six of the seven cases and in all of these there was concordance between prenatal and postnatal estimates of the esophageal defect lengths. Direct or indirect sonographic assessment of the esophagus in cases of suspected prenatal esophageal atresia improves the specificity of its diagnosis and aids prenatal evaluation.

[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.

[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.

[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.

Partial chromosome deletion: a new trisomy rescue mechanism?

OBJECTIVE: We described a first case of a fetus with multiple congenital malformations associated with full trisomy 5 on direct CVS analysis and a partial trisomy 5 after cell culture. METHODS: CVS karyotype (direct examination and culture) was performed after ultrasound examination and genetic counseling. RESULTS: Direct CVS preparation showed a female karyotype with a homogeneous entire chromosome 5 trisomy, and karyotype of cultured CVS showed partial chromosome 5 trisomy, with an extra chromosome resulting from a deleted chromosome 5: 47,XX,del(5q31),+5. Only macroscopic examination could be performed because parents decided against postmortem examination and further analysis. CONCLUSION: After a brief literature review, we argue that all de novo large chromosome deletions need to be considered as potentially associated with a trisomy rescue and uniparental disomy.