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Objective To evaluate the clinical profile and outcome of neonates with non-immune hydrops (NIH). Methods Data of all the NIH cases admitted to neonatal intensive care unit at our center, New Delhi from January, 2010 to October, 2017 were extracted from hospital records, which included clinical profile and outcomes. Results Of the 17,299 total births, 27 neonates were identified to have NIH. Antenatal interventions were undertaken in five (18.5%) cases. The most common etiology of NIH was cardiac (n=5; 18.5%). Two babies with chylothorax were successfully managed with octreotide infusions. Overall survival rate of NIH was 70.3% (n=19). All neonates with a suspected genetic syndrome died. Conclusion Multidisciplinary team including obstetricians, pediatric surgeons, geneticists and neonatologists can improve outcome in neonates with NIH.

The antenatal evaluation of the fetal central nervous system (CNS) is among the most difficult tasks of prenatal ultrasound (US), requiring technical skills in relation to ultrasound and image acquisition as well as knowledge of CNS anatomy and how this changes with gestation. According to the International Guidelines for fetal neurosonology, the basic assessment of fetal CNS is most frequently performed on the axial planes, whereas the coronal and sagittal planes are required for the multiplanar evaluation of the CNS within the context of fetal neurosonology. It can be even more technically challenging to obtain “nonaxial” views with 2-dimensional (2D) US. The modality of 3-dimensional (3D) US has been suggested as a panacea to overcome the technical difficulties of achieving nonaxial views. The lack of familiarity of most sonologists with the use of 3D US and its related processing techniques may preclude its use even where it could play an important role in complementing antenatal 2D US assessment. Furthermore, once a 3D volume has been acquired, proprietary software allows it to be processed in different ways, leading to multiple ways of displaying and analyzing the same anatomical imaging or plane. These are difficult to learn and time consuming in the absence of specific training. In this article, we describe the key steps for volume acquisition of a 3D US volume, manipulation, and processing with reference to images of the fetal CNS, using a newly developed context-preserving rendering technique.

Nous avons mené une étude portée sur cinq cas d´hernie de la coupole diaphragmatique fœtale (HCD) sur deux ans au sein de notre unité de diagnostic anténatal afin de faire un rappel sur les repères généraux concernant cette pathologie et sa prise en charge toute en soulignant les actualités en matière d'évaluation prénatale du pronostic néonatale à l´aide du calcul du Lung over Head Ratio (LHR): échographie versus versus imagerie par résonance magnétique (IRM) dans les pays du tiers-monde. Le but de notre travail est de clarifier le devenir de ces nouveau-nés et d'assurer un accompagnement au couple d'un fœtus portant une hernie de la coupole diaphragmatique.

Prenatal trisomy 21 (T21) screening commonly involves testing a maternal blood sample for fetal DNA aneuploidy. It is reliable but poses a cost barrier to universal screening. We hypothesized maternal plasma RNA screening might provide similar reliability but at a lower cost. Discovery experiments used plasma cell-free RNA from 20 women 11–13 weeks tested by RNA and miRNA microarrays followed by qRT-PCR. Thirty-six mRNAs and 18 small RNAs of the discovery cDNA were identified by qPCR as potential markers of embryonic T21. The second objective was validation of the RNA predictors in 998 independent pregnancies at 11–13 weeks including 50 T21. Initial analyses identified 9–15 differentially expressed RNA with modest predictive power (AUC < 0.70). The 54 RNAs were then subjected to machine learning. Eleven algorithms were trained on one partition and tested on an independent partition. The three best algorithms were identified by Kappa score and the effects of training/testing partition size and dataset class imbalance on prediction were evaluated. Six to ten RNAs predicted T21 with AUCs up to 1.00. The findings suggest that maternal plasma collected at 11–13 weeks, tested by qRT-PCR, and classified by machine learning, may accurately predict T21 for a lower cost than plasma DNA, thus opening the door to universal screening.

Background Congenital malformations are described in about 3% of live births and 20% of stillbirths in the industrialized countries. The prevalence of congenital anomalies in developing countries, including Morocco, is not well known at the national level. The aim of our study is to conduct a descriptive exploratory analysis of congenital malformations cases diagnosed at the “Les Orangers” Maternity and Reproductive Health Hospital in Rabat. Methods We collected all the cases of congenital malformations diagnosed at the “Les Orangers” Maternity and Reproductive Health Hospital in Rabat, from January 1st, 2011 to June 31st, 2016. Data were reported on pre-established sheets and on a registry of malformations. Total and specific prevalences were calculated for each malformation. A principal component analysis (PCA) was then conducted followed by a Varimax rotation in order to identify the different associations of malformations in our series. Results We registred 245 cases of congenital malformations out of a total of 43,923 recorded births; a prevalence of 5.58 per thousand births of which 19.2% were FDIU (fetal deaths in utero). A polymalformative syndrome was found in 26.5% of cases which makes a total number of 470 anomalies. The musculoskeletal anomalies predominate with a rate of 33%, followed by neurological abnormalities 18%, of whom 31% were hydrocephalus, 26.2% anencephaly, and 20.24% spina bifida. Malformations of the eye, ear, face and neck were described in 12% of the cases, while genetic abnormalities were observed in 8,5% of which 87.5% represented Down syndrome. The antenatal diagnosis of congenital malformations was performed in 28.6% of cases. Conclusions Our study provides a general overview of the epidemiological situation related to different types of congenital anomalies for a specific area in Morocco. It represents a database that should be complemented by other multicenter studies and the implementation of a national registry to determine the prevalence of congenital malformations at a national level.

Being a planar structure, fetal diagnosis of aorto-pulmonary window poses great challenge. A few echocardiographic signs can help to clinch the diagnosis.

International audience; Objectives: The objective of this study was to assess whether the laterality of congenital diaphragmatic hernia (CDH) was a prognostic factor for neonatal survival.Methods : This was a cohort study using the French national database of the Reference Center for Diaphragmatic Hernias. The principal endpoint was survival after hospitalization in intensive care.We made a comparative study between right CDH and left CDH by univariate and multivariate analysis. Terminations and stillbirths were excluded from analyses of neonatal outcomes.Results: A total of 506 CDH were included with 67 (13%) right CDH and 439 left CDH (87%). Rate of survival was 49% for right CDH and 74% for left CDH (P < .01). Multivariate analysis showed two factors significantly associated with mortality: thoracic herniation of liver (OR 2.27; IC 95% [1.07-4.76]; P = .03) and lung-to-head-ratio over under expected (OR 2.99; IC 95% [1.41-6.36]; P < .01). Side of CDH was not significantly associated with mortality (OR 1.87; IC 95% [0.61-5.51], P = .26).Conclusion : Rate of right CDH mortality is more important than left CDH. Nevertheless after adjusting for lung-to-head-ratio and thoracic herniation of liver, right CDH does not have a higher risk of mortality than left CDH.

Congenital teratoma is a very rare tumor, affecting the neck in 3% of all cases.The diagnosis should be performed in antenatal by ultrasonography or magnetic resonance imaging (MRI). The risk of neonatal respiratory distress is very important. We present a rare case of immature cervical teratoma revealed by antenatal ultrasonography with total excision and cure. A 22-year-old woman, G1P1, who came from a rural area, was admitted to our obstetrics department for delivery. She had no document of pregnancy follow-up. The ultrasound exam showing a live fetus at term with voluminous cervical mass. After consultation with the neonatal resuscitation team, a caesarean section was performed. The infant underwent surgical excision at 25 days of life with complete healing. The histological report was confirmed the diagnosis of immature cervical teratoma free of malignant elements. A multidisciplinary management is necessary to avoid complications related to compression, but also to reduce the risk of cancer.

The TRAPS (Twin Reversed Arterial Perfusion Sequence) is an uncommon and specific complication of monozygotic genetic pregnancies. This anomaly is secondary to the presence of abnormal vascular connections between the two twins, so it is a major form of the twin-to-twin transfusion syndrome. We present here a case of an acardiac-acephalic twin diagnosed during pregnancy at 27 weeks of amenorrhea. Thanks to advances in ultrasound, the antenatal diagnosis of the TRAP syndrome is made possible in the first trimester. This condition is associated with a high mortality rate in healthy twins caused by anemia and heart failure. Therapeutic resources involve in utero management such as the interruption of vascular anastomosis between the twins to perform a selective feticide.

Lymphatic malformations are congenital vascular malformations of the lymphatic channels. These most commonly present in the skin and subcutaneous tissue. Cavity chylous accumulation is also reported. Solid organ affection by lymphatic malformation is possible but extremely rare. We report a case of a newborn diagnosed by antenatal ultrasound to have a left suprarenal mass. He was treated postnatally by surgical resection. A literature review and discussion of treatment options follows.

Prenatal diagnosis of hyperechogenic kidneys is associated with a wide range of etiologies and prognoses. The recent advances in fetal ultrasound associated with the development of next-generation sequencing for molecular analysis have enlarged the spectrum of etiologies, making antenatal diagnosis a very challenging discipline. Of the various known causes of hyperechogenic fetal kidneys, calcium and phosphate metabolism disorders represent a rare cause. An accurate diagnosis is crucial for providing appropriate genetic counseling and medical follow-up after birth. We report on three cases of fetal hyperechogenic kidneys corresponding to postnatal diagnosis of nephrocalcinosis. In all cases, antenatal ultrasound showed hyperechogenic kidneys of normal to large size from 22 gestational weeks, with a normal amount of amniotic fluid. Postnatal ultrasound follow-up showed nephrocalcinosis associated with hypercalcemia, hypercalciuria, elevated 1,25(OH)2-vitamin D, and suppressed parathyroid hormone levels. Molecular genetic analysis by next-generation sequencing performed after birth in the three newborns revealed biallelic pathogenic variants in the SLC34A1 gene, encoding the sodium/phosphate cotransporter type 2 (Npt2a), confirming the diagnosis of infantile hypercalcemia. Nephrocalcinosis due to infantile hypercalcemia can be a cause of fetal hyperechogenic kidneys, which suggests early antenatal anomaly of calcium and phosphate metabolism. This entity should be considered in differential diagnosis. Postnatal follow-up of infants with hyperechogenic kidneys should include evaluation of calcium and phosphate metabolism.

Sirenomelia is a rare congenital malformative disorder characterized by an abnormal development of caudal region of the body with varying degree of fusion of lower extremities giving a characteristic mermaid like appearance to the affected fetus. Also known as Symmelia, Symposia, Sympus, Uromelia, Monopodia. Despite recent progress in pathology precise etiopathogenesis of Sirenomelia is not known but many theories have been proposed. Antenatal diagnosis of this universally lethal condition is desirable so that possible termination of pregnancy can be at the earliest. A good understanding of this rare condition remains central to the effective counselling and management of affected couples

Increasingly, congenital thoracic malformations (CTMs) are diagnosed on antenatal ultrasound, but we lack the evidence to suggest rational management, not least because descriptive terms are used inconsistently. This review describes a simplified clinical classification of CTMs, and contrasts it with pathological descriptions. The age related presentations of CTM are described, together with the differential diagnoses of cystic masses presenting both antenatally and postnatally. Antenatally diagnosed CTMs rarely require intervention before birth; and urgent treatment is only required postnatally if the baby is symptomatic and does not respond to medical management. The asymptomatic baby with an antenatal diagnosis of a CTM presents a management conundrum. Definitive imaging is with high-resolution computed tomography (HRCT), but the optimal timing of imaging is unclear. Whether surgery should be offered to asymptomatic infants is also unclear; in the medium term, 5 % of asymptomatic babies will require surgery for complications of the disease. The most vexed question is malignant change; the risk in the medium term is probably less than 5 %, but we have no way of delineating a high-risk group. Indeed, malignancy has been described even after complete resection of a CTM. The author’s personal management is to advocate surgery in the second year of life for all except for the most trivial CTMs, but many would differ and advocate conservative management. More data are needed if we are to rationalise our approach to these infants.

Focal cerebellar hypoplasia is restricted to one cerebellar hemisphere or to the vermis. Prenatal diagnosis of unilateral cerebellar hypoplasia is possible by the use of ultrasound and MRI. Familiarity with the prenatal MRI findings is essential to recognize cerebellar pathologies accurately and prospectively. We present US and MRI findings in a fetus with cerebellar malformation at 20 weeks gestation. The goal of our case report is to present the fetal MRI findings of unilateral cerebellar hypoplasia, to discuss the value of fetal MRI in the early diagnoses of this malformation and to summarize the current main stream literature concerning the etiology.

A laparoscopic approach to patients with duodenal duplication cyst may offer a safe alternative to open resection., We report the first case of complete laparoscopic resection of a duodenal duplication cyst (DDC) in an 8-mo-old patient. The cyst was diagnosed by routine antenatal ultrasound performed at 3 mo of gestational age. Although the baby was born asymptomatic without any congenital abnormalities, the cyst had continued to increase on serial sonographic examinations. Previous reports have described treatment of DDC by surgical resection (laparotomy) or endoscopic marsupialization; we describe here, the first report of laparoscopic approach to resect DDC in a pediatric patient with a favorable outcome.

Sirenomelia is a social curiosity, a medical and diagnostic challenge prenatally compounded by varied diagnostic difficulties. Prenatal diagnosis of sirenomelia was and continues to be a challenge although von klippel et al., described a case at 10 weeks of gestational age. However, they needed a second imaging at 12(th) week for confirmation. First trimester or early second trimester anatomic survey on ultrasound and MRI is accurate for the diagnosis thereby avoiding unnecessary complex pregnancy. We report a case of second trimester diagnosed sirenomelia, with detailed analysis of image findings on ultrasound and fetal MRI.

Contains fulltext : 168757.pdf (Publisher’s version ) (Closed access) OBJECTIVE: To determine outcome of children born with isolated gastroschisis (no extra-gastrointestinal congenital abnormalities). STUDY DESIGN: International cohort study and meta-analysis. PRIMARY OUTCOME: time to full enteral feeding (TFEF); secondary outcomes: Duration of mechanical ventilation, length of stay (LOS), mortality and differences in outcome between simple and complex gastroschisis (complex; born with bowel atresia, volvulus, perforation or necrosis). To compare the cohort study results with literature three databases were searched. Studies were eligible for inclusion if cases were born in developed countries with isolated gastroschisis after 1990, number of cases >20 and TFEF was reported. RESULTS: The cohort study included 204 liveborn cases of isolated gastroschisis. The TFEF, median duration of ventilation and LOS was, 26days (range 6-515), 2days (range 0-90) and 33days (range 11-515), respectively. Overall mortality was 10.8%. TFEF and LOS were significantly longer (P

Objective: This systematic review evaluated the existence of risk factors for the fetal manifestation of long QT syndrome (LQTS). Methods: Prenatal cardiac findings suggestive of fetal LQTS were studied using 30 English literature reports extracted from the Pubmed database (1979 to December 2011) using the search terms ‘long QT syndrome’, ‘fetal arrhythmia’ and ‘congenital heart disease’. Results: LQTS accounted for 15–17% of fetal bradycardias Conclusions: Fetal factors including a slightly reduced baseline FHR of 110–120 bpm, bradycardia

Placenta accreta occurs when a defect of the decidua basalis results in abnormally invasive placental implantation. Main risk factors include placenta previa and previous caesarean section. The conventional sonographic criteria for abnormally adherent placenta have a good diagnostic value that has to be assessed. MRI should improve the diagnosis when sonography is inconclusive. The choice of the treatment results of medical staff and the women's choice. It implies centers with adequate equipment and resources. Radical strategy consists in caesarean hysterectomy according to American recommendations or in an attempt of complete placental delivery associated with trial haemostasis and hysterectomy if this fails. A conservative approach whereby the placenta is left in place may however be proposed in selected cases if the woman wishes to continue to be fertile. This strategy needs a rigorous follow-up until complete resorption of the placenta. In case of major hemorrhage, hysterectomy should not be delayed to prevent major maternal complications or even maternal death.

PubMed ID: 26352074, We aimed to evaluate the correlation between clinical parameters and the post-left atrium (LA) space index, which is a candidate screening marker for total anomalous pulmonary venous connection (TAPVC). We also calculated the inter- and intra-observer variabilities of measurements for this parameter. The LA-descending aorta distance/descending aorta diameter ratios (post-LA space index) were obtained from 165 fetuses between 20 and 24 weeks of gestation. Regression analyses were utilized to evaluate the correlations across clinical parameters and the post-LA space index. Intraclass correlations coefficients were calculated for the intra- and inter-observer agreements of three examiners with different sonographic experience. The mean (±SD) maternal and gestational age (GA) was 28.6±4.9 years and 21.7±0.9 weeks of gestation, respectively. In multivariate analyses, there was no correlation between post-LA space index and maternal age, fetal gender, or GA at cardiac scan. There were moderate to strong correlations across the measurements by different examiners, indicating good inter- and intra-observer agreements. The post-LA space index during 20-24 weeks of gestation is a simple and reliable marker that is not affected by GA. However, its potential as a screening tool for TAPVC warrants further clinical investigation. © 2016 2016 Walter de Gruyter GmbH, Berlin/Boston.

Ovarian torsion is a surgical emergency demanding timely diagnosis and treatment to prevent loss of the ovaries which if happens may result in functional and emotional consequences. Simple (less than 5cm in size) ovarian cysts require follow-up for potential self-resolution. We describe a case of antenatally detected bilateral ovarian cysts that developed bilateral ovarian torsions on follow-up, postnatally.

When a foetal abnormality is detected during routine antenatal screening, further information is required in order to plan the remainder of the pregnancy and perinatal management. If a lesion is detected in the foetal mouth or neck, there may be compromise of the foetal airway. The ex-utero intrapartum (EXIT) procedure has recently been developed to allow lifesaving foetal surgery to be performed during delivery of such cases whilst relying on placental support. Detailed antenatal assessment is essential when planning the EXIT procedure, and modern imaging modalities may be implemented. We illustrate this by reporting a rare case of enteric duplication cyst arising from the base of the tongue, which was detected on routine antenatal ultrasound scan. Subsequent imaging using foetal MRI and colour Doppler ultrasound reassured us that the foetal airway was patent, and an EXIT procedure was avoided.

A case of connatal hamartoma of the left thyroid lobe is reported. During routine prenatal ultrasonographic examination, a tumor of the neck was diagnosed. The baby was born at 30 weeks' gestation, and the tumor (measuring 7.0 x 5.5 x 4.2 cm) was extirpated. Histologically, the tumor was a hamartoma of the thyroid gland. Follow-up evaluation (3 and 6 months after resection) showed that the child was doing well and had no signs of hypothyroidism or hypoparathyroidism. The case is discussed with respect to antenatal diagnosis, postpartum diagnostic measures, management, and surgical therapy. 31 9 1294 1296

This paper presents a fetus with mosaic trisomy 9 diagnosed by chorionic villus sampling and confirmed by cordocentesis, and compares this case with published cases in order better to define the ultrasound markers confined to trisomy 9 syndrome. Detailed fetal ultrasound examination was carried out, revealing shortened femur, placental cysts and oligohydramnios. All published trisomy 9 cases with abnormal ultrasound findings were extracted from the MEDLINE database in the period from 1973 to 2002. We found 12 non-mosaic and 13 mosaic cases, including our case. The most frequent ultrasound abnormalities included characteristic cardiac, skeletal, craniofacial and central nervous system malformations. Intrauterine growth restriction and single umbilical artery were prevalent non-specific findings in both non-mosaic and mosaic groups. Parental chromosomal variations, as in our case, were not uncommon findings. When a fetus shows structural anomalies suggesting the presence of trisomy 9, karyotyping should be performed on both chorionic villi or amniocytes and fetal blood lymphocytes to enable a correct diagnosis to be made.

PURPOSE: The purpose of this study was to describe an approach to surgical management of bronchogenic cysts based on the natural course observed from the time of antenatal screening to surgical resection in patients treated at our institution and reported in the literature. MATERIALS AND METHODS: We retrospectively reviewed the clinical features of all children presenting bronchogenic cyst diagnosed antenatally from 2007 to 2010. A total of six children were included. RESULTS: Antenatal diagnosis was accurate in 62.5% of cases. In the first year of life, the size of the cyst remained stable in four patients, doubled in one, and increased 30% within six months in one. The indication for surgery was emphysema of the left bronchus in two patients and rapid growth in two patients. One patient is still awaiting surgery. CONCLUSION: Bronchogenic cysts grow slowly in the first months of life, but growth is exponential even in the absence of complications. We recommend complete resection before the age of two years to prevent infectious complications and facilitate surgery.

We describe the echocardiographic features of submitral aneurysm in a 26 week old fetus. The diagnosis was confirmed on neonatal echocardiography.

Ellis Van Creveld syndrome (EVC), also known as chondroectodermal dysplasia, presents at birth with short limbs accompanied by postaxial polydactyly, nail dysplasia, and dental anomalies. Other manifestations of EVC include atrial septum defects and other congenital heart diseases. We report a case of the EVC syndrome with postaxial polydactyly (Synpolydactyly with seven fingers on the right side and hexadactyly on the left side) and a partial atrioventricular canal defect diagnosed antenatally. This variation of EVS has not been reported in English literature till date.

Technical refinements of ultrasound (US) have greatly affected the antenatal diagnosis and treatment of ovarian cysts. From 1985 to 1990 25 consecutive fetuses with ovarian cysts were followed-up by US both during pregnancy and postnatally. All cases were diagnosed between the 28th and 39th weeks of gestation. Deliveries were all at term; cesarean section was required only for obstetric complications. Eight fetuses (32%) showed US patterns of cyst torsion, a finding confirmed at surgery in all. In five patients US patterns suggested complications postnatally that were also confirmed at operation. In six cases cysts increased or remained unchanged in size after 15 days of life: in 50% of these surgery showed ovarian torsion. In the remaining six cases spontaneous resolution occurred within 1 to 4 months. One patient required intrauterine needle aspiration. There were two cases of intestinal obstruction. To date, more than 60% of newborns with ovarian cysts require oophorectomy; however, different treatments (cystectomy, needle aspiration, uncapping) combined with a close US follow-up are likely to reduce this percentage.