NOTCH2 related disorders: Description and review of the fetal presentation.

Signs of skeletal dysplasias are relatively common in fetuses with abnormal ultrasound (US) findings. The diversity of congenital skeletal disorders, the possibility of late-onset severe phenotypes and overlapping syndromes can be a challenge in the way of diagnosis, even if prenatal high-throuput sequencing allows for a better diagnosis, prognosis and genetic counseling. Hajdu-Cheney spectrum pathologies are rarely described in prenatal, and the signs associated remain poorly known, and do not include specific postnatal signs as acro-osteolysis and premature osteoporosis. We hereby report a couple for whom a medical termination of pregnancy was performed because a severe polymalformative syndrome associating severely short limbs with bowed long bones, severe cardiopathy, hyperechogenic kidneys and dysmorphism. After fetopathological and radiological examinations, Exome Sequencing (ES) was performed and revealed a de novo truncating mutation in the last exon of NOTCH2, responsible for Hajdu-Cheney or Serpentine Fibula Polycystic Kidney syndromes.

Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study.

OBJECTIVE: To determine the frequency and nature of copy number variants (CNVs) identified by chromosomal microarray analysis (CMA) in a large cohort of fetuses with isolated increased nuchal translucency thickness (NT) ≥ 3.5 mm. METHODS: This was a retrospective, multicenter study, including 11 French hospitals, of data from the period between April 2012 and December 2015. In total, 720 fetuses were analyzed by rapid aneuploidy test and the fetuses identified as euploid underwent CMA. CNVs detected were evaluated for clinical significance and classified into five groups: pathogenic CNVs; benign CNVs; CNVs predisposing to neurodevelopmental disorders; variants of uncertain significance (VOUS); and CNVs not related to the phenotype (i.e. incidental findings). RESULTS: In 121 (16.8%) fetuses, an aneuploidy involving chromosome 13, 18 or 21 was detected by rapid aneuploidy test and the remaining 599 fetuses were euploid. Among these, 53 (8.8%) had a CNV detected by CMA: 16/599 (2.7%) were considered to be pathogenic, including 11/599 (1.8%) that were cryptic (not visible by karyotyping); 7/599 (1.2%) were CNVs predisposing to neurodevelopmental disorders; and 8/599 (1.3%) were VOUS. Additionally, there was one (0.2%) CNV that was unrelated to the reason for referral diagnosis (i.e. an incidental finding) and the remaining 21 were benign CNVs, without clinical consequence. Interestingly, we identified five genomic imbalances of the 1q21.1 or 15q11.2 regions known to be associated with congenital heart defects. CONCLUSION: Our study demonstrates the benefit of CMA in the etiological diagnosis of fetuses with isolated increased NT. It is worth noting that most (69%) of the detected pathogenic CNVs were cryptic. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.

[What signs should you look for ultrasound (2D/3D) to affirm the good location of tubal implants? About a retrospective study of 92 cases]. / Quels signes échographiques doit-on rechercher (2D/3D) pour affirmer la bonne localisation des implants tubaires ? À propos d'une étude rétrospective de 92 cas.

OBJECTIVE: The aim of this study is to propose an analysis of the route and the curvature of the Essure® system in 3D ultrasound to determine their correct location so as not to miss a tubal perforation. METHODS: This is a retrospective single center study during 2 years analyzing 92 3D ultrasound performed by a single sonographer. Implant placement was performed by different operators. One prescribed 3D ultrasound control in case of difficulties with the installation; other indications where systematics. RESULTS: The Essure®'s position is right in 79% of cases. Twenty-eight implants appear incorrectly positioned on ultrasound 3D positioning. Abnormalities found are those described by the classification proposed in the literature. In one case, the curvature of the implant, not taking into account this classification, allowed to evoke a tubal perforation. Among the 28 cases of non-visualized implants in place, 3 cases of wrong position of the implant were confirmed by additional examinations (laparoscopy or HSG). For 14 cases, the ASP or HSG disproved the wrong position of the implants. In other cases, we did not have other complementary examinations. CONCLUSION: Ultrasonography 3D seems to be the method of choice to control implants for simple implementation and good reproducibility. However, the interpretation of 3D ultrasound images is sometimes difficult. The study of the curvature of the implant should be systematically analyzed not to miss a tubal perforation.

[Beckwith-Wiedemann syndrome: What do you search in prenatal diagnosis? About 14 cases]. / Le syndrome de Beckwith-Wiedemann : que faut-il rechercher en anténatal? À propos d'une série de 14 cas.

OBJECTIVES: Beckwith-Wiedemann syndrome (BWS) is the most common overgrowth syndrome and has an incidence of 1/13,700. The majority of the cases are diagnosed after birth. Patients with BWS have an increased risk of neonatal hypoglycemia and embryonal tumors development in childhood. We wanted to identify the ultrasound signs that must alert physicians to prepare best perinatal management strategies. METHODS: We conducted a retrospective study of a population of 14 cases of BWS diagnosed in perinatal period; four of them were detected prenatally by ultrasound. The anomalies signs described in prenatal were analyzed and compared with the clinical features of the postnatal period. RESULTS: The major features reported were represented by macrosomia for 71.4% with an increase of abdominal circumference, and macroglossia for 78.6%. The minor features were various with 64% of visceromegaly (nephromegaly and/or hepatomegaly), 50% of hydramnios and for 80% of male children a genital anomaly (crytorchidism and/or hypospadias). CONCLUSION: This study identified some prenatal ultrasound signs that should alert the clinician to the possibility of BWS. A genetic conseling, after confirmation by molecular diagnosis, could be proposed in a near future in prenatal, and could improve postnatal management strategies for these affected children at high postnatal risk.

[Correlation between antenatal ultrasound and postnatal diagnosis in cleft lip or palate: A retrospective study of 44 cases]. / Corrélation anté- et postnatale dans le cadre de fentes du palais primaires ou secondaires : étude rétrospective de 44 cas.

OBJECTIVES: Anomalies of the maxillofacial development concern 1 for 700 births. About 30% of prenatal diagnoses of isolated primary cleft palate or associated with a cleft of secondary palate will be corrected in postnatal. This retrospective observational study was designed to compare the antenatal data and postnatal diagnosis regarding a series of clefts. MATERIALS AND METHODS: All children born between 1 December 2009 and 31 January 2014 in a prenatal diagnostic reference center and having a cleft palate were included. Newborns with an abnormality associated with the cleft were excluded. A comparison was made between the data in the antenatal ultrasound reports and postnatal those described by the surgeon during surgery. RESULTS: Forty-four children were included and three infants were excluded due to associated anomalies. Of those 41 children, 27 children have been screened. Ultrasound and clinical diagnosis was the same for 23 cases (85.2%) and inaccurate for 4 patients (14.8%). In case of primary cleft palate prenatal diagnosis was performed to 19 cases of 21 (90.5%), but only 8 of 20 if only secondary cleft palate (42.1%) including 7 with a Pierre-Robin sequence. DISCUSSION: Antenatal screening sensitivity of primary and secondary cleft palate increase in recent years with a rate of 85.2% in our series. By contrast, diagnosis of isolated secondary cleft palate seems to be more difficult and 3D ultrasound does not always improve screening performance. CONCLUSION: Ultrasound 2D seem sufficient for screening of primary and secondary cleft palate. The 3D ultrasound may be useful for a better representation of the cleft for future parents. The same language concerning the classification of the clefts facilitates harmonization of reporting and understanding between professionals. The presence of the maxillofacial surgeon ultrasound room would allow the sonographer to direct its ultrasound accurately or improve its learning curve.

[Rare case of bilateral pulmonary agenesis and prenatal diagnosis]. / Diagnostic anténatal d'une agénésie pulmonaire bilatérale : une observation exceptionnelle.

Bilateral pulmonary agenesis (BPA) is a rare congenital lung malformation. The prognosis is severe as it is incompatible with extra-uterine life. Although multiple prenatal imaging modalities are developed, the prenatal diagnosis of BPA remains problematic. We report a case of BPA observed in our unity and for which the diagnosis was not clearly identified during the evaluation. This report illustrates the need to consider all the imaging aspects and particularly during US examination suspecting BPA.

[Epidermolysis bullosa simplex congenital antenatal discovery and contribution of 3D ultrasound]. / Épidermolyse bulleuse simplex congénitale de découverte anténatale et apport de l'échographie 3D.

Epidermolysis bullosa (EB) comprises a heterogeneous group of genodermatoses whose prognosis is variable. The diagnosis is suggested by prenatal ultrasound at signs, especially for junctional EB with pyloric atresia. The authors report a case of antenatal image limited skin undermining highlighted by the ultrasound three-dimensional (3D) in connection with a diagnosis of a congenital epidermolysis simplex confirmed postnatal period.

[When should evoke prenatal paternal uniparental disomy 14?]. / Quand faut-il évoquer en anténatal une disomie uniparentale paternelle 14 ?

The paternal uniparental disomy 14 is a rare malformation syndrome whose postnatal pathognomonic sign is the deformation of the rib as coat hanger. In prenatal, ultrasonographic signs are major recurrent polyhydramnios, a narrow thorax and deformed long bones short and sometimes other anomalies including ends. The authors report one rare case of prenatal paternal uniparental disomy 14 with the deformation of the rib as coat hanger. Prenatally, the narrow deformed thorax can be searched by ultrasound three-dimensional (3D) and/or helical CT and thus represent an aid to prenatal diagnosis.

[Interest of 3D ultrasound in the follow-up of tubal sterilizations: case report of a rare tubal perforation]. / Intérêt de l'échographie en 3 dimensions dans le suivi des stérilisations tubaires : à propos d'un cas rare de perforation.

The Essure™ system's effectiveness is based on the follow-up at three months. The challenge is to find a minimally invasive imaging technique to locate the devices. Therefore, many authors recommend three-dimensional ultrasound in first-line. We report here an exceptional case of tubal perforation for which ultrasound failed to diagnose. Until then, only three cases have been reported in the literature, noting the difficulty to diagnose this complication. Indeed, although ultrasound is described as reliable, reproducible and non-radiating, it is a dynamic examination, operator dependent, exposing to the risk of misinterpretation.

[Facial coloboma: report of an exceptional prenatal case and interest of three-dimensional ultrasonography]. / Colobome facial: à propos d'une observation anténatale précoce exceptionnelle; apport de l'échographie en 3-dimensions.

We report a rare case of Tessier no. 4 craniofacial cleft diagnosed by ultrasound imaging at 10 weeks' gestation. Tessier no. 4 craniofacial cleft is a very rare and complex congenital abnormality, characterized by an oblique orbitomaxillary facial cleft. Prenatal diagnosis of orofacial clefting is usually done at midtrimester of pregnancy, based on careful sonographic examination of the fetal face. However conventional 2D ultrasound is limited in screening isolated cleft palate and defects of the secondary palate. Thus, 3D ultrasound shows a greater sensitivity in a referred population and antenatal evaluation of facial clefs.

[Acardiac twins: pronostics markers' study]. / Les jumeaux acardiaques: étude des critères pronostiques échographiques.

OBJECTIVES: To determine ultrasonographic markers that can help to predict prognosis in twins acardiac pathology in order to manage it. PATIENTS AND METHODS: A retrospective multicentric study has been led between 1997 and 2006. The following data were collected: frequency of monitoring, ultrasonographic markers studied according to the outcome of each pregnancy, associated with a review of the literature. RESULTS: Six twin pregnancies with this condition were identified. The main studied criteria are: foetal growth of the pump twin, congestive heart failure, resistance index of the umbilical arteries, ductus venosus Doppler and middle cerebral artery peak velocity. There was no consensus concerning the method of ultrasonographic monitoring. DISCUSSION AND CONCLUSION: According to our study and the literature, our management must take into account the ratio of (or the difference in) resistance indices between the twins, the middle cerebral artery peak velocity, the tricuspid regurgitation and the ratio of abdominal circumferences of the two twins.

Contribution of three-dimensional ultrasonography in depicting perineal features in cloacal malformation.

Cloacal anomaly is a rare malformation with an incidence of 1 in 50,000 births. The definitive prenatal diagnosis of cloacal dysgenesis sequence is difficult. The use of three-dimensional (3-D) ultrasonography helps to describe the perineum and change diagnosis. In our case report, a large median genital structure was visualized, which was initially considered a penis-like structure, but the 3-D technique showed an enlarged bud. The urethral meatus was at the tip of this smooth structure. The lack of anal structure was clearly demonstrated.

[Monoamniotic twins: diagnosis and management]. / Grossesse monochoriale monoamniotique: diagnostic et prise en charge.

Monoamniotic twin pregnancies are necessarily monochorionic and are defined by the development of two fetuses in a single amniotic cavity. This pregnancy is the result of a division of the egg between the 8th and 13th day after fertilization. The diagnosis can and should be performed during the first trimester of pregnancy. Apart from the small risk of fetal transfusion syndrome, the specificities of these pregnancies are linked to greater risk of perinatal mortality, malformations, prematurity and the persistent risk of entanglement cords until birth. Intensified obstetrical monitoring eventually requiring hospitalization followed by a premature birth around 34 SA is recommended to improve perinatal outcomes with a reduction in prenatal mortality. Reorientation toward a neonatal Level III, the proposal of a systematic course of corticosteroids and elective delivery once lung maturation is achieved are recommended. There is not enough argument to recommend specific delivery mode, although cesarean section is performed by most authors to reduce the funicular risks.

[Is the bronchial atresia prenatal diagnosis possible?]. / Le diagnostic anténatal d'atrésie bronchique est-il possible ?

Bronchial atresia is a rare congenital malformation of the lung. The main-stem segmental or lobar bronchus fails to construct normally, which can lead to accumulation of mucus within the distal bronchi or lung hyperinflation of the obstructed lobe. The prenatal diagnosis is rare and difficult. We report two cases of fetuses who presented pathological examination of the lung on the ultrasonography, at 22 weeks of gestation, suspect of prenatal bronchial atresia diagnosis. We analysed this malformation through a literature review in order to discuss differential diagnosis to be evoked, as well as appropriate perinatal management.

[Doppler waveforms patterns of vascular anastomoses in monochorionic twin pregnancies. A report of three cases and review of the literature]. / Mise en évidence des anastomoses vasculaires par la vélocimétrie doppler dans les grossesses gémellaires monochoriales. Revue de la littérature à propos de trois cas.

Three cases of intermittent absent end-diastolic and reversed end-diastolic flow velocity (A/REDV) are reported in the proximal umbilical artery of the growth-retarded twin in monochorionic twin pregnancies. This typical doppler velocimetric pattern has been related to arterio-arterial anastomoses in two cases of intra-uterine growth retardation and in one case of twin-twin transfusion syndrome. According to the literature, superficial arterio-arterial anastomoses may be detected by doppler colour velocimetry in 75 to 85% of cases, while identification of arteriovenous connections is more difficult to be documented in vivo (50% of cases in experienced hands). The role of superficial vascular anastomoses, either arterio-arterial or venovenous, and that of deep arteriovenous communications is now well documented in the main complications of monochorionic pregnancies, particularly for twin-twin transfusion syndrome, intrauterine growth retardation, intrauterine fetal death and acardiac twins.

[Combining corticosteroid and aspirin for the prevention of recurrent villitis or intervillositis of unknown etiology]. / Association des corticoïdes à l'aspirine pour la prévention des récidives de villite ou d'intervillite chroniques d'étiologie indéterminée.

We report the cases of two patients who had a favorable outcome with aspirin and corticosteroid therapy during pregnancy for chronic villitis of unknown etiology complicated by labor asphyxia and further intrauterine fetal demise in one gravida 3 patient and for chronic intervillositis of unknown etiology diagnosed after three perinatal deaths in another patient (gravida 4). Chronic villitis of unknown etiology (CVUE) is detected in 7 to 33% of placentas, mainly after intrauterine growth retardation (IUGR), unexplained prematurity, preeclampsia, perinatal asphyxia and intrauterine fetal death (IUFD). The less frequent chronic intervillositis of unknown etiology (CIUE) (0.6 to 0.9/1.000) has been implicated in recurrent severe pregnancy complications, such as spontaneous abortions, IUGR and IUFD. Histopathology and immunohistology are in favor of an immune response against the foreign fetal allograft. The favorable results obtained with corticosteroids and aspirin remain to be confirmed by larger series.