Antenatal diagnosis of absence of septum pellucidum.

The absence of septum pellucidum (ASP) is a rare disease, which affects the structure of the brain. It is either isolated or associated with various congenital brain malformations. The diagnosis of ASP can be performed by second-trimester ultrasound. When the ASP is isolated, prenatal counseling is optimistic regarding neurological outcome, but there is a 20% risk of septo-optic dysplasia in the neonate.

Prenatal diagnosis of intra hepatic arterio venous fistula: case report and review of the literature.

AIM: To describe the prenatal features and management of a congenital intra hepatic fistula. MATERIAL AND METHODS: Case report Results: Congenital intra hepatic fistula are extremely rare. The prenatal ultrasound seiology is described. CONCLUSION: Prenatal diagnosis of these anomalies may improve pre and post natal management.

Prenatal sonographic description of fetuses affected by pyruvate dehydrogenase or pyruvate carboxylase deficiency.

OBJECTIVE: Pyruvate dehydrogenase deficiency (PDHD) and pyruvate carboxylase deficiency (PCD) are diseases with severe neonatal forms, and their low prevalence makes them difficult to diagnose during pregnancy. Our objective was to describe prenatal ultrasound features that may be suggestive of these diagnoses. METHODS: We analyzed 3 cases from our institution and reviewed 12 published cases of PDHD and 6 cases of PCD, recording all of the ultrasound signs, as well as magnetic resonance findings when available. Because of the small number of cases of PCD, we also included postnatal signs that could have been observed during imaging during pregnancy, for a total of 11 cases of PCD. RESULTS: We conclude that PDHD can be suggested in the presence of ventriculomegaly or paraventricular cysts, associated with an abnormality of the cerebral parenchyma such as abnormal gyration or involvement of the corpus callosum. Pyruvate carboxylase deficiency can be suggested in the presence of ventriculomegaly, frontal horn impairment associated with subependymal, and paraventricular cysts. CONCLUSION: When confronted to the ultrasound abnormalities we described, and after eliminating the most frequent etiologies, a metabolic deficiency should be considered. Furthermore, the hereditary character of these diseases makes that it is important to send the family with genetic advice in particular in case of history of a fetal death in utero or a death neonatal unexplained.

Teaching invasive prenatal procedures: effectiveness of two simple simulators in training.

BACKGROUND: Chorionic villus sampling (CVS) and amniocentesis are the major tools of invasive prenatal diagnosis. We studied the effectiveness of two simulators in training in invasive procedures. METHODS: Two affordable and simple simulators were developed, modelling the maternal abdomen and the different tissue layers crossed by the needle. The trainees were evaluated before and after practical and theoretical training. A score evaluating five criteria for technical quality in performing a procedure safely was established. Initial score of 9 or 10 was excluded. The primary endpoint was improvement defined as the change between pre-test and post-test, expressed as a percentage of the pre-test. RESULTS: A total of 54 residents and 63 specialists in obstetrics and gynaecology participated. Residents improved their scores in the practice of amniocentesis (80% [43-167]) and CVS (100% [29-150]), as well as specialists (100% [25-233] and 67% [33-122]). Specialists who earlier performed one CVS or more than five amniocentesis procedures had a lower increase during training than those who had performed fewer than five procedures (p < 0.01). Being inexperienced in CVS was associated with greater improvement (27% vs 56%, p = 0.003). CONCLUSION: A simple simulator improves the ability of physicians to perform invasive procedures in particular when initial experience is low. © 2016 John Wiley & Sons, Ltd.

Umbilical vein thrombosis: to deliver or not to deliver at the time of diagnosis?

KEY CLINICAL MESSAGE: Umbilical vein thrombosis is a rare anomaly with high mortality that frequently occurs in association with fetomaternal conditions. The unfavorable outcome of our case highlights the need for consensus on severity criteria, including the percentage of vascular occlusion determined by power Doppler, in order to improve outcome.

Case of a healthy infant born following antenatal enterovirus myocarditis and hydrops.

Fetal hydrops and myocarditis were diagnosed in a woman at 32 weeks of gestation (WG). Transplacental enterovirus infection was suspected because all other causes of myocarditis and hydrops were excluded, it was during an endemic period, and there was a setting of maternal infection (fever a few days before). We opted for in utero treatment because of the risk of resuscitating a neonate with myocarditis and hydrops. We administered dexamethasone 12mg twice for pulmonary maturation and presumed it would partially improve the myocarditis. Fetal arrhythmia was noted at 35 WG and we decided to deliver the infant as postnatal treatment of the heart disorder would be more effective. RT-PCR (ARGENE(®)) showed that the neonate's throat and anal tissues and cord blood sampled on the day of birth contained enterovirus ribonucleic acid and coxsackievirus B5, as did the mother's anal sample. Laboratory tests, heart MRI and probably brain MRI indicated neonatal enterovirus infection. Findings were normal at two-year follow-up.

Accuracy of ultrasonography and magnetic resonance imaging in the diagnosis of placenta accreta.

PURPOSE: To evaluate the accuracy of ultrasonography and magnetic resonance imaging (MRI) in the diagnosis of placenta accreta and to define the most relevant specific ultrasound and MRI features that may predict placental invasion. MATERIAL AND METHODS: This study was approved by the institutional review board of the French College of Obstetricians and Gynecologists. We retrospectively reviewed the medical records of all patients referred for suspected placenta accreta to two university hospitals from 01/2001 to 05/2012. Our study population included 42 pregnant women who had been investigated by both ultrasonography and MRI. Ultrasound images and MRI were blindly reassessed for each case by 2 raters in order to score features that predict abnormal placental invasion. RESULTS: Sensitivity in the diagnosis of placenta accreta was 100% with ultrasound and 76.9% for MRI (P = 0.03). Specificity was 37.5% with ultrasonography and 50% for MRI (P = 0.6). The features of greatest sensitivity on ultrasonography were intraplacental lacunae and loss of the normal retroplacental clear space. Increased vascularization in the uterine serosa-bladder wall interface and vascularization perpendicular to the uterine wall had the best positive predictive value (92%). At MRI, uterine bulging had the best positive predictive value (85%) and its combination with the presence of dark intraplacental bands on T2-weighted images improved the predictive value to 90%. CONCLUSION: Ultrasound imaging is the mainstay of screening for placenta accreta. MRI appears to be complementary to ultrasonography, especially when there are few ultrasound signs.

Diagnosis of abdominal wall defects in the first trimester.

PURPOSE OF REVIEW: To review prognostic parameters reported recently in the evaluation of abdominal wall defects in the first trimester. RECENT FINDINGS: Evaluation of abdominal wall defects in the first trimester is based principally on associated structural or chromosomal anomalies. In the case of gastroschisis, which is rarely associated with other anomalies, evaluation of prenatal or postnatal outcome is based mainly on the course of pregnancy. In the case of isolated omphalocele in the first trimester, recent studies have evaluated parameters that could help predict prenatal or postnatal outcome. SUMMARY: We review recent studies using new parameters to diagnose abdominal wall defects in the first trimester and to provide early prenatal counselling to parents regarding prenatal and postnatal prognosis.

Omphalocele in the first trimester: prediction of perinatal outcome.

OBJECTIVE: This study aims to evaluate the perinatal outcomes of fetuses with isolated omphalocele diagnosed before 14 weeks of gestation (WG) and determine whether visceral-abdominal disproportion (ratio between mean omphalocele diameter and transverse abdominal diameter) and omphalocele contents can predict neonatal morbidity. METHODS: This is a retrospective cohort study of omphaloceles diagnosed before 14 WG at three tertiary centers between January 1998 and January 2010. In the group of isolated omphaloceles (i.e., euploid and no other malformation), ratio of visceral-abdominal disproportion and omphalocele contents were evaluated as predictors of perinatal morbidity. RESULTS: Among 153 fetal omphaloceles diagnosed before 14 WG, 74 were excluded because of abnormal karyotype or other malformations. Among the 79 isolated fetal omphaloceles, the survival rate at birth was 68% (54/79), with a global morbidity rate of 33% (18/54). Of the live born fetuses, 92.6% (50/54) survived the neonatal period, and 96% (48/50) without long-term sequelae. There was a significant increase in neonatal morbidity when the ratio of disproportion was greater than 0.8 or when the liver was contained in the omphalocele in the first trimester. CONCLUSION: In cases of isolated omphalocele in the first trimester, visceral-abdominal disproportion and omphalocele contents predict perinatal morbidity.