Targeted Array Comparative Genomic Hybridisation (array CGH) Identifies Genomic Imbalances Associated with Isolated Congenital Diaphragmatic Hernia (CDH)

Prenatal Diagnosis. Dec, 2010  |  Pubmed ID: 21064195

Congenital diaphragmatic hernia (CDH) is a congenital birth defect affecting around 1/3000 births. We propose that a significant number of isolated CDH cases have an underlying genetic cause, and that a subset of these result from copy number variations (CNVs) identifiable by array CGH.

Preterm Rabbit Lung Tissue Mechanics: Maturational Changes and Effect of Antenatal Steroids

Pediatric Pulmonology. Apr, 2010  |  Pubmed ID: 20232469

Describe lung tissue and central airway mechanics using forced oscillation in preterm rabbits at different gestational ages and after maternal administration of betamethasone (BM).

Tracheal Side Effects Following Fetal Endoscopic Tracheal Occlusion for Severe Congenital Diaphragmatic Hernia

Pediatric Radiology. May, 2010  |  Pubmed ID: 20352401

Twin Anemia Polycythemia Sequence from a Prenatal Perspective

Prenatal Diagnosis. May, 2010  |  Pubmed ID: 20373492

To describe the prevalence, management and outcome of spontaneous twin anemia polycythemia sequence (TAPS) diagnosed in the prenatal period.

Neonatal Tracheal Changes Following in Utero Fetoscopic Balloon Tracheal Occlusion in Severe Congenital Diaphragmatic Hernia

Journal of Pediatric Surgery. Apr, 2010  |  Pubmed ID: 20385271

To report postnatal tracheal changes after in utero fetoscopic balloon tracheal occlusion in severe congenital diaphragmatic hernia (CDH).

Clinicopathological Study of Patients Requiring Reintervention After Sacrocolpopexy with Xenogenic Acellular Collagen Grafts

The Journal of Urology. Jun, 2010  |  Pubmed ID: 20400143

We describe the operative and histopathological findings of patients requiring reintervention because of symptomatic vault prolapse or graft related complications following sacrocolpopexy using xenografts.

Monochorionic Diamniotic Twin Pregnancies: Natural History and Risk Stratification

Fetal Diagnosis and Therapy. 2010  |  Pubmed ID: 20413975

About 30% of monochorionic twin pregnancies are complicated by twin-to-twin transfusion syndrome (TTTS), isolated discordant growth, twin anemia-polycythemia sequence, congenital defects or intrauterine demise. About 15% will be eligible for invasive fetal therapy, either fetoscopic laser treatment for TTTS or fetoscopic or ultrasound-guided umbilical cord coagulation for a severe congenital defect in one twin or severe discordant growth with imminent demise of the growth-restricted twin. Ultrasound examination in the first and early second trimester can differentiate the monochorionic twins at high risk for adverse outcome from those likely to be uneventful, which may be useful for patient counselling and planning of care.

On the Origin of Amniotic Stem Cells: of Mice and Men

The International Journal of Developmental Biology. 2010  |  Pubmed ID: 20446274

A common characteristic of mammals is the development of extraembryonic supporting tissues and organs that are required for embryonic implantation, survival and development in utero. The amnion is the innermost extraembryonic membrane that eventually surrounds the fetus of amniotes, and contains the amniotic fluid. Next to its function in in utero development, the amnion has been shown to have an important potential for clinical applications. It is mainly used as a dressing to stimulate healing in skin and ocular wounds. Moreover, cells derived from the amniotic membrane and amniotic fluid have been reported to possess stem cell features, like pluripotent differentiation ability. Little is known about the early development of this membrane in humans. The mouse is a powerful genetic model organism that can be used to address the dynamics and the developmental origin of amnion and amnion-derived stem cells. Here, we discuss some fundamental differences in amnion development in the disc-shaped primate embryo and in the cup-shaped mouse embryo. We emphasize the consequences that this may have on the derivation of amniotic "stem" cells. After revision of the different isolation procedures of amniotic (fluid) derived "stem" cells from rodents, we reveal striking differences in the sources used to derive these cells across studies. The profound differences in the development of the extraembryonic membranes and cavities between primates and rodents may result in comparing cell types of different developmental origins, eventually leading to missinterpretations.

The Outcome of Twin Reversed Arterial Perfusion Sequence Diagnosed in the First Trimester

American Journal of Obstetrics and Gynecology. Sep, 2010  |  Pubmed ID: 20522408

The aim of this study was to document the mortality of twin reversed arterial perfusion (TRAP) sequence from the first trimester to planned intervention at 16-18 weeks.

The Making of Fetal Surgery

Prenatal Diagnosis. Jul, 2010  |  Pubmed ID: 20572114

Fetal diagnosis prompts the question for fetal therapy in highly selected cases. Some conditions are suitable for in utero surgical intervention. This paper reviews historically important steps in the development of fetal surgery. The first invasive fetal intervention in 1963 was an intra-uterine blood transfusion. It took another 20 years to understand the pathophysiology of other candidate fetal conditions and to develop safe anaesthetic and surgical techniques before the team at the University of California at San Francisco performed its first urinary diversion through hysterotomy. This procedure would be abandoned as renal and pulmonary function could be just as effectively salvaged by ultrasound-guided insertion of a bladder shunt. Fetoscopy is another method for direct access to the feto-placental unit. It was historically used for fetal visualisation to guide biopsies or for vascular access but was also abandoned following the introduction of high-resolution ultrasound. Miniaturisation revived fetoscopy in the 1990 s, since when it has been successfully used to operate on the placenta and umbilical cord. Today, it is also used in fetuses with congenital diaphragmatic hernia (CDH), in whom lung growth is triggered by percutaneous tracheal occlusion. It can also be used to diagnose and treat urinary obstruction. Many fetal interventions remain investigational but for a number of conditions randomised trials have established the role of in utero surgery, making fetal surgery a clinical reality in a number of fetal therapy programmes. The safety of fetal surgery is such that even non-lethal conditions, such as myelomeningocoele repair, are at this moment considered a potential indication. This, as well as fetal intervention for CDH, is currently being investigated in randomised trials.

Morphologic Changes and Methodological Issues in the Rabbit Experimental Model for Diaphragmatic Hernia

Histology and Histopathology. Sep, 2010  |  Pubmed ID: 20607652

Fetal lung development may be impaired by some congenital anomalies or in utero events. Animal models are used to understand the pathophysiology of these diseases and explore therapeutic strategies. Our group has an interest in the prenatal management of congenital diaphragmatic hernia (CDH). Isolated CDH remains associated with a 30% mortality because of lung hypoplasia and pulmonary hypertension. On day 23 of gestation (pseudoglandular stage) CDH was created in both ovarian-end fetuses (n= 28) in 14 time-mated pregnant white rabbits (hybrid of Dendermonde and New-Zealand White). At term (day 30) all survived operated fetuses and size-matched controls were harvested. Fetuses/lungs were assigned randomly to formalin fixation either under pressure of 25 cm H2O (CDH25 n=5; CTR25 n=5) or without (0 cm H2O (CDH0 n=7; CTR0 n=7). Fetuses and lungs were first weighed, and then the lungs were processed for morphometry. Pulmonary development was evaluated by lung-to-body weight ratio (LBWR) and airway and vascular morphometry. Surgical induction of CDH does reduce the LBWR to hypoplastic levels. The contralateral lung weight is 81% of what is expected, whereas the ipsilateral lung is only 46% of the normal. This was accompagnied by a loss of conducting airway generations, precisely, terminal bronchioles (TB), which were surrounded by less alveoli. The ipsilateral CDH lung demonstrated a thickened media in the peripheral arteries as well. As a result, in the severely hypoplastic ipsilateral lung, an airway fixation pressure of 25 H2O has no significant effect on the morphometric indices. The contralateral lung has a normal amount of alveoli around a single TB, which also behave like alveoli of the normal lung, i.e. expand under pressure fixation. The present study on severely hypoplastic lungs that never respirated, shows that in contrast to normal lungs, the morphometric indices are not significantly influenced by a difference in fixation pressure. Increasing fixation pressure seems to expand the lung only when sufficient alveolated parenchyma is present.

Efficient Gene Transfer into the Mouse Lung by Fetal Intratracheal Injection of RAAV2/6.2

Molecular Therapy : the Journal of the American Society of Gene Therapy. Dec, 2010  |  Pubmed ID: 20664525

Fetal gene therapy is one of the possible new therapeutic strategies for congenital or perinatal diseases with high mortality or morbidity. We developed a novel delivery strategy to inject directly into the fetal mouse trachea. Intratracheal (i.t.) injection at embryonic day 18 (E18) was more efficient in targeting the fetal lung than conventional intra-amniotic (i.a.) delivery. Viral vectors derived from adeno-associated virus serotype 6.2, with tropism for the airway epithelium and not earlier tested in the fetal mouse lung, were injected into the fetal trachea. Bioluminescence (BL) imaging (BLI) was combined with magnetic resonance (MR) imaging (MRI) for noninvasive and accurate localization of transgene expression in vivo. Histological analysis for β-galactosidase (β-gal) revealed 17.5% of epithelial cells transduced in the conducting airways and 1.5% in the alveolar cells. Stable gene expression was observed up to 1 month after injection. This study demonstrates that direct injection of rAAV2/6.2 in the fetal mouse trachea is superior to i.a. delivery for transducing the lung. Second, as stable gene transfer was detected up to 1 postnatal month, this approach may be useful to evaluate fetal gene therapy for pulmonary diseases such as cystic fibrosis, requiring both substantial numbers of transduced cells as well as prolonged gene expression to obtain a stable phenotypic effect.

Cross-sectional Study of Tracheomegaly in Children After Fetal Tracheal Occlusion for Severe Congenital Diaphragmatic Hernia

Radiology. Oct, 2010  |  Pubmed ID: 20713614

To measure tracheal dimensions in children with congenital diaphragmatic hernia (CDH) who had undergone fetoscopic endoluminal tracheal occlusion (FETO) or were treated expectantly during gestation.

MR Volumetry of the Normal Fetal Kidney: Reference Values

Prenatal Diagnosis. Nov, 2010  |  Pubmed ID: 20734348

The aim of this study is to provide reference values for normal fetal kidney growth based on magnetic resonance (MR) volumetry. Differences in side and gender will be investigated.

The Fetal Heart in Twin-to-Twin Transfusion Syndrome

International Journal of Pediatrics. 2010  |  Pubmed ID: 20811613

Twin-to-twin transfusion syndrome is a severe complication occurring in 10% of monochorionic twin pregnancies. The disease is usually explained as due to an intrauterine imbalance in intertwin blood exchange, which leads to a volume depleted-donor twin and an overfilled recipient twin. The recipient has signs of cardiac dysfunction, which can be measured using echocardiography or blood and amniotic fluid derived biomarkers. Whereas cardiac dysfunction typically progresses in pregnancies treated with amniodrainage, it usually disappears within a few weeks after fetoscopic laser coagulation of the connecting intertwin anastomoses. Nevertheless, recipients remain at a increased risk of pulmonary stenosis. In this paper, we summarize the cardiac alterations in twin-to-twin transfusion syndrome, describe the changes seen after fetal therapy, list the newly proposed staging systems based on fetal cardiac function, and make recommendations about the use of fetal echocardiography in the evaluation and followup of pregnancies complicated by twin-to-twin transfusion syndrome.

Prognostic Value of Pulmonary Doppler to Predict Response to Tracheal Occlusion in Fetuses with Congenital Diaphragmatic Hernia

Fetal Diagnosis and Therapy. 2011  |  Pubmed ID: 20881369

Pulmonary Doppler may play an important role in the prediction of survival and postnatal morbidity in fetuses with congenital diaphragmatic hernia treated with fetoscopic tracheal occlusion (FETO). Spectral Doppler indexes such as pulsatility index and peak early diastolic reversed flow could help to refine the selection of fetuses that might benefit from fetal therapy. When combined with lung-to-head ratio (LHR), these Doppler indices allow to discriminate cases with moderate-to-high survival rates from fetuses with extremely low chances to survive after FETO. In addition, they discriminate groups with a high or low risk of serious neonatal morbidity in surviving fetuses. After therapy, the combined evaluation of the relative increase of LHR with the increase in lung tissue perfusion by power Doppler seems to improve the prediction of fetal survival. In conclusion, while LHR remains the strongest predictive index, Doppler measurements allow to substantially improve the accuracy in the prediction of the chances of survival of fetuses with congenital diaphragmatic hernia treated with FETO.

Examining the Relationship Between the Lung-to-head Ratio Measured on Ultrasound and Lung Volumetry by Magnetic Resonance in Fetuses with Isolated Congenital Diaphragmatic Hernia

Fetal Diagnosis and Therapy. 2011  |  Pubmed ID: 20962504

In fetuses with isolated congenital diaphragmatic hernia (CDH), lung development can be measured by the lung-to-head ratio (LHR) using ultrasound as well as by lung volumetry determined by fetal magnetic resonance imaging (MRI). We aimed to investigate their relationship as well as to analyze the factors that may have an impact on it.

Prenatal Anatomical Imaging in Fetuses with Congenital Diaphragmatic Hernia

Fetal Diagnosis and Therapy. 2011  |  Pubmed ID: 21063073

The role of prenatal ultrasound and magnetic resonance imaging in the diagnosis and management of congenital diaphragmatic hernia (CDH) is reviewed. Topics include morphologic imaging and vascular assessment of the developing lung, the value of imaging parameters as prognostic predictors in CDH and the role of imaging following percutaneous fetoscopic endoluminal tracheal occlusion.

Changes in Lung Tissue Perfusion in the Prediction of Survival in Fetuses with Congenital Diaphragmatic Hernia Treated with Fetal Endoscopic Tracheal Occlusion

Fetal Diagnosis and Therapy. 2011  |  Pubmed ID: 20215733

To assess the impact of lung perfusion by fractional moving blood volume (FMBV) for the prediction of survival in fetuses with congenital diaphragmatic hernia (CDH) treated with fetal endoscopic tracheal occlusion (FETO).

An International Urogynecological Association (IUGA) / International Continence Society (ICS) Joint Terminology and Classification of the Complications Related Directly to the Insertion of Prostheses (meshes, Implants, Tapes) & Grafts in Female Pelvic Floor Surgery

International Urogynecology Journal. Jan, 2011  |  Pubmed ID: 21140130

a terminology and standardized classification has yet to be developed for those complications arising directly from the insertion of synthetic (prostheses) and biological (grafts) materials in female pelvic floor surgery.

Twin-to-twin Transfusion Syndrome (TTTS)

Journal of Perinatal Medicine. Mar, 2011  |  Pubmed ID: 21142846

Twin-to-twin transfusion syndrome (TTTS) is a severe complication of monochorionic (MC) twin pregnancies, characterized by the development of unbalanced chronic blood transfer from one twin, defined as donor twin, to the other, defined as recipient, through placental anastomoses. If left untreated, TTTS is associated with very high perinatal mortality and morbidity rates, due to a combination of fetal and/or obstetric complications. The reported prevalence is 10-15% of all MC twins, or about 1 in 2000 pregnancies. This consensus document reviews available evidence and offers practical guidance to clinicians by providing recommendations on various aspects concerning diagnosis and management of TTTS.

Recent Developments in the Genetic Factors Underlying Congenital Diaphragmatic Hernia

Fetal Diagnosis and Therapy. 2011  |  Pubmed ID: 21150176

Congenital diaphragmatic hernia (CDH) is a birth defect affecting around 1 in 3,000 births and is associated with high mortality and morbidity. It has become increasingly apparent that genetic factors underlie many forms of CDH. We review the recent developments in the area of the genetics of CDH, including potential candidate genes supported by evidence from animal models. We also discuss the possible role in the pathogenesis of CDH of defective retinoid signalling and abnormal mesenchymal cell function.

An International Urogynecological Association (IUGA)/International Continence Society (ICS) Joint Terminology and Classification of the Complications Related Directly to the Insertion of Prostheses (meshes, Implants, Tapes) and Grafts in Female Pelvic Floor Surgery

Neurourology and Urodynamics. Jan, 2011  |  Pubmed ID: 21181958

A terminology and standardized classification has yet to be developed for those complications arising directly from the insertion of synthetic (prostheses) and biological (grafts) materials in female pelvic floor surgery.

Technical Aspects of Fetal Endoscopic Tracheal Occlusion for Congenital Diaphragmatic Hernia

Journal of Pediatric Surgery. Jan, 2011  |  Pubmed ID: 21238635

In isolated congenital diaphragmatic hernia, prenatal prediction is made based on measurements of lung size and the presence of liver herniation into the thorax. A subset of fetuses likely to die in the postnatal period is eligible for fetal intervention that can promote lung growth. Rather than anatomical repair, this is now attempted by temporary fetal endoscopic tracheal occlusion (FETO). Herein we describe purpose-designed instruments that were developed thanks to a grant from the European Commission. The feasibility and safety of FETO have now been demonstrated in several active fetal surgery programs. The most frequent complication of the procedure is preterm premature rupture of the membranes, which is probably iatrogenic in nature. It does have an impact on gestational age at delivery and complicates balloon removal. FETO is associated with an apparent increase in survival compared with same severity controls, although this needs to be evaluated in a formal trial. The time has come to do so.

Fetal Surgery for Congenital Diaphragmatic Hernia is Back from Never Gone

Fetal Diagnosis and Therapy. 2011  |  Pubmed ID: 21325858

Over half of the cases of congenital diaphragmatic hernia are picked up prenatally. Prenatal assessment aims to rule out associated anomalies and to make an individual prognosis. Prediction of outcome is based on measurements of lung size and vasculature as well as on liver herniation. A subset of fetuses likely to die in the postnatal period is eligible for a fetal intervention that can promote lung growth. Two randomized trials have shown that fetal surgery using open anatomical repair or tracheal occlusion via hysterostomy has no benefit. Since then, a percutaneous fetoscopic technique has been introduced, which has been shown to be safe and seems to improve survival when compared to historical controls. Rupture of the fetal membranes and early delivery, nevertheless, remain an issue, but are less likely as compared to earlier experience. Improved outcomes are confirmed in two other studies published in this issue of Fetal Diagnosis and Therapy. This paper summarizes the experimental and clinical history of fetal surgery for congenital diaphragmatic hernia. It stresses the need for another randomized trial. This trial started in Europe and patients should be asked whether they would like to participate.

Shrinkage and Biomechanical Evaluation of Lightweight Synthetics in a Rabbit Model for Primary Fascial Repair

International Urogynecology Journal. Sep, 2011  |  Pubmed ID: 21562913

The experiment evaluated different lightweights (<32 g/m(2)) in terms of shrinkage and biomechanics.

Amniopatch for Iatrogenic Rupture of the Fetal Membranes

Prenatal Diagnosis. Jul, 2011  |  Pubmed ID: 21656529

With the increased use of invasive fetal procedures, the number of women facing post-procedure membrane rupture is increasing. Here we review the use of platelets and fresh frozen plasma for sealing iatrogenic fetal membrane defects by describing the mechanisms of action of the amniopatch procedure as well as published experience. In cases of iatrogenic preterm pre-labour rupture of the membranes, amniopatch effectively seals the fetal membranes in over two-thirds of cases. There is a risk of 16% of in utero fetal death, which may occur at varying intervals from the procedure and often for unknown reasons. Amniopatch has also been used as a treatment of chorionic membrane separation. In summary, current experience suggests that in cases of early onset but persistent amniotic fluid leakage following an invasive fetal procedure, amniopatch is an option.

Prenatal Assessment and Management of Sacrococcygeal Teratoma

Prenatal Diagnosis. Jul, 2011  |  Pubmed ID: 21656530

Sacrococcygeal teratoma (SCT) is one of the most common tumors in newborns with a birth prevalence of up to 1 in 21,700 births. Routine fetal anomaly screening programs allow for prenatal diagnosis in many cases. Fetal ultrasound with Doppler evaluation and more recently magnetic resonance imaging may be used to document the extent of the tumor as well as identifying the population at risk for serious fetal complications. Rapidly growing SCT and highly vascularized tumors are more likely to have hemodynamic repercussions. Fetal hydrops is usually considered as a poor prognostic marker and a potential indicator for fetal intervention. Newborns with SCT require stabilization prior to early surgical resection. In case of malignancy additional chemotherapy may be required. SCT may result in significant morbidity, either directly or as a consequence of surgical therapy. Careful postnatal follow-up is required for timely identification and treatment of complications as well as recurrence. This paper aims to review the perinatal management of this condition.

The 2010 Malcolm Ferguson-Smith Young Investigator Award

Prenatal Diagnosis. Oct, 2011  |  Pubmed ID: 21898469

Results of Fetal Endoscopic Tracheal Occlusion for Congenital Diaphragmatic Hernia and the Set Up of the Randomized Controlled TOTAL Trial

Early Human Development. Sep, 2011  |  Pubmed ID: 21907109

In isolated congenital diaphragmatic hernia, lung size and/or the position of the liver are predictive of neonatal outcome. Percutaneous Fetal Endoscopic Tracheal Occlusion (FETO) by a balloon can be undertaken to prompt lung growth in the worst cases. The feasibility and safety of FETO is no longer at stake, and it is associated with an apparent increase in neonatal survival. The gestational age at birth, the pre-existing lung size, the ability to remove the balloon prior to birth, and the lung response are predicting outcome. The most frequent complication is preterm premature rupture of the membranes, and as a consequence preterm delivery, which also complicates balloon removal. We have set up a randomized trial for the formal evaluation of FETO in Europe, including criteria for fetoscopy centers. Training of European as well as North American centers is taking place, so that the procedure could be safely and more widely offered.

The Correlation Between Lung Volume and Liver Herniation Measurements by Fetal MRI in Isolated Congenital Diaphragmatic Hernia: a Systematic Review and Meta-analysis of Observational Studies

Prenatal Diagnosis. Nov, 2011  |  Pubmed ID: 21915885

We conducted a meta-analysis to assess the correlation of lung volume and liver position measured by magnetic resonance imaging (MRI) with survival until discharge in fetuses with isolated congenital diaphragmatic hernia (CDH).

A Longer Tracheal Occlusion Period Results in Increased Lung Growth in the Nitrofen Rat Model

Prenatal Diagnosis. Jan, 2012  |  Pubmed ID: 22052745

Prenatal tracheal occlusion (TO) promotes lung growth and is applied clinically in fetuses with severe congenital diaphragmatic hernia. Limited data are available regarding the effect of duration of TO on lung development. Our objective was to evaluate the effects of long (2 and 2.5 days) versus short (1 day) TO on lung development in rats with nitrofen-induced diaphragmatic hernia.

Fetoscopic Laser Surgery for Twin-to-twin Transfusion Syndrome After 26 Weeks of Gestation

Fetal Diagnosis and Therapy. 2012  |  Pubmed ID: 22156583

To compare the outcomes of twin-to-twin transfusion syndrome (TTTS) cases treated with fetoscopic laser coagulation of vascular anastomoses before 25 + 6 weeks of gestation and between 26 and 28 weeks of gestation.

Array-based Approaches in Prenatal Diagnosis

Methods in Molecular Biology (Clifton, N.J.). 2012  |  Pubmed ID: 22228011

The diagnostic benefits of array comparative genomic hybridisation (CGH) have been demonstrated, with this technique now being applied as the first-line test for patients with intellectual disabilities and/or multiple congenital anomalies in numerous laboratories. There are no technical barriers preventing the introduction of array CGH to prenatal diagnosis. The question is rather how this is best implemented, and for whom. The challenges lie in the interpretation of copy number variations, particularly those which exhibit reduced penetrance or variable expression, and how to deal with incidental findings, which are not related to the observed foetal anomalies, or unclassified variants which are currently of uncertain clinical significance. Recently, applications of array technologies to the field of pre-implantation genetic diagnosis have also been demonstrated. It is important to address the ethical questions raised concerning the genome-wide analysis of prenatal samples to ensure the maximum benefit for patients. We provide an overview of the recent developments on the use of array CGH in the prenatal setting, and address the challenges posed.

Fetoscopic Release of an Amniotic Band with Risk of Amputation: Case Report and Review of the Literature

Fetal Diagnosis and Therapy. 2012  |  Pubmed ID: 22248756

Amniotic bands can cause limb amputation as well as intrauterine fetal demise. Fetoscopic release of amniotic bands has been shown to rescue limb function. Herein, we describe an interesting case of an amniotic band wrapped around the right forearm as well as the umbilical cord, which was released by fetoscopy. Following the procedure, the blood flow in the forearm was restored and the edema gradually reduced. Full functionality of the arm was confirmed after birth, though the esthetic problem of the imprint of the band on the arm persisted. Furthermore, we review the available literature regarding fetoscopic interventions in amniotic band syndrome.

Long Term Respiratory Outcomes of Congenital Diaphragmatic Hernia, Esophageal Atresia, and Cardiovascular Anomalies

Seminars in Fetal & Neonatal Medicine. Apr, 2012  |  Pubmed ID: 22297025

Intrathoracic congenital malformations may be associated with long-term pulmonary morbidity. This certainly is the case for congenital diaphragmatic hernia, esophageal atresia and cardiac and aortic arch abnormalities. These conditions have variable degrees of impaired development of both the airways and lung vasculature, with a postnatal impact on lung function and bronchial reactivity. Pulmonary complications are themselves frequently associated to non-pulmonary morbidities, including gastrointestinal and orthopaedic complications. These are best recognized in a structured multidisciplinary follow-up clinic so that they can be actively managed.

Antenatal Management of Isolated Congenital Diaphragmatic Hernia Today and Tomorrow: Ongoing Collaborative Research and Development. Journal of Pediatric Surgery Lecture

Journal of Pediatric Surgery. Feb, 2012  |  Pubmed ID: 22325377

The diagnosis of congenital diaphragmatic hernia should be made prenatally in virtually all cases where routine maternal ultrasonography is available. At that time, the prognosis can be predicted based on whether it is isolated and assessment of lung size and/or the position of the liver. Prenatal intervention may be offered in those selected fetuses that have a predicted poor outcome. The aim of this procedure is to reverse the key determinant of survival-pulmonary hypoplasia. Percutaneous fetal endoscopic tracheal occlusion by a balloon is a minimally invasive procedure that has been shown safe and yields a 50% survival rate in severe cases. The outcome can be predicted by the gestational age at birth, the lung size before and after balloon placement, and whether the balloon has been removed prenatally. Currently, the added value of prenatal intervention is being investigated in the Tracheal Occlusion To Accelerate Lung Growth trial ((TOTAL); a European and North American collaboration). Future developments may include better prediction of outcome by more complex algorithms reflecting combinations of prenatal predictors, gene expression profiling to reflect lung development and response to tracheal occlusion, and alternative prenatal strategies for salvaging the worst cases. Fetuses with severe hypoplasia usually require postnatal operative repair using prosthetic patches, and tissue engineering offers the potential for ex utero culture.

A Standardized Description of Graft-containing Meshes and Recommended Steps Before the Introduction of Medical Devices for Prolapse Surgery. Consensus of the 2nd IUGA Grafts Roundtable: Optimizing Safety and Appropriateness of Graft Use in Transvaginal Pelvic Reconstructive Surgery

International Urogynecology Journal. Apr, 2012  |  Pubmed ID: 22395289

Over the past decade, a huge number of new implants and ancillary devices have been introduced to the market. Most of these have become clinically available with little or no clinical data or research. This is a less-than-ideal situation, and this subgroup of the ad hoc IUGA roundtable conference wants to open the discussion to change this, by proposing a pragmatic minimum clearance track for new products being introduced to the market. It consists of an accurate and more standardized product description, data on the biological properties gathered in animal experiments, anatomical cadaveric studies, and upfront clinical studies followed by a compulsory registry on the first 1,000 patients implanted. Ideally, manufacturers should support well-designed prospective (randomized) clinical trials that can support the claimed benefits of the new product.

Morphological and Functional Adaptation of the Maternal Heart During Pregnancy

Circulation. Cardiovascular Imaging. May, 2012  |  Pubmed ID: 22455877

Pregnancy provides a unique model to study the adaptation of the heart in a physiological situation of transient load changes. The aim of this study was to assess the performance of the left ventricle (LV) in normal, uncomplicated pregnancies while considering the actual LV load and shape.

International Urogynecological Association (IUGA)/International Continence Society (ICS) Joint Terminology and Classification of the Complications Related to Native Tissue Female Pelvic Floor Surgery

Neurourology and Urodynamics. Apr, 2012  |  Pubmed ID: 22517067

A terminology and standardized classification has yet to be developed for those complications related to native tissue female pelvic floor surgery.

Fetal Pyelectasis and Corkscrew-shaped Ureters: an Association Observed in Postmortem Fetal Imaging Studies of Osteochondrodysplasia and Trisomy 21

Prenatal Diagnosis. Jul, 2012  |  Pubmed ID: 22517500

Biomechanical Effects of Polyglecaprone Fibers in a Polypropylene Mesh After Abdominal and Rectovaginal Implantation in a Rabbit

International Urogynecology Journal. Oct, 2012  |  Pubmed ID: 22527542

To investigate the biomechanical effects of polyglecaprone fibers in lightweight meshes implanted into the vaginal and abdominal wall of parous rabbits.

An International Urogynecological Association (IUGA)/International Continence Society (ICS) Joint Terminology and Classification of the Complications Related to Native Tissue Female Pelvic Floor Surgery

International Urogynecology Journal. May, 2012  |  Pubmed ID: 22527748

A terminology and standardized classification has yet to be developed for those complications related to native tissue female pelvic floor surgery.

Comparison of Doppler-based and Three-dimensional Methods for Fetal Cardiac Output Measurement

Fetal Diagnosis and Therapy. 2012  |  Pubmed ID: 22613961

Fetal cardiac output is conventionally measured using two-dimensional (2D) and Doppler ultrasound (Doppler). New methods based on 3D measurements of ventricular size in systole and diastole have been proposed. Our aim was to validate these tools against the conventional Doppler-based methods.

Minimally Invasive Fetal Therapy

Best Practice & Research. Clinical Obstetrics & Gynaecology. Oct, 2012  |  Pubmed ID: 22682617

The implementation of systematic pregnancy screening programmes, and the increased use and improving quality of medical imaging techniques, have lead to earlier detection and better understanding of the natural history of fetal anomalies. Where most fetal conditions are adequately treatable after birth, some disorders progress during fetal life and can lead to severe morbidity or fetal and neonatal demise. This inherently raises the question of prenatal therapy. Some fetal conditions are amenable for fetal surgical intervention, part of them by minimal access. We provide an overview of the rationale for, the technical aspects of, and (if available) the outcomes of the most common minimally invasive prenatal therapies. These include intrauterine transfusion, fetal cardiac procedures, interventions for lower urinary tract obstruction, thoracic and pulmonary pathology, fetoscopic laser of placental vessels for twin-to-twin transfusion syndrome, and selective reduction in complicated monochorionic twin pregnancies.

Cytogenetic and Morphological Analysis of Early Products of Conception Following Hystero-embryoscopy from Couples with Recurrent Pregnancy Loss

Prenatal Diagnosis. Oct, 2012  |  Pubmed ID: 22763612

Our knowledge about miscarriages mainly concerns pregnancies of at least 8 weeks' gestation. Information about the morphology and the genetic determinants of early aborted embryos remains limited. In addition, it is known that aneuploidies account for less than half of recurrent spontaneous abortions. We hypothesized that (recurrent) early pregnancy losses might have other genetic causes.

Risk of Perinatal Death in Early-onset Intrauterine Growth Restriction According to Gestational Age and Cardiovascular Doppler Indices: a Multicenter Study

Fetal Diagnosis and Therapy. 2012  |  Pubmed ID: 22777088

To assess the value of gestational age and cardiovascular Doppler indices in predicting perinatal mortality in a multicenter cohort of early-onset intrauterine growth-restricted (IUGR) fetuses.

The Pharmacokinetics of a High Intravenous Dose of Paracetamol After Caesarean Delivery: the Effect of Gestational Age

European Journal of Anaesthesiology. Oct, 2012  |  Pubmed ID: 22935956

Pregnancy affects intravenous paracetamol pharmacokinetics, but there are no studies on covariates of intravenous paracetamol pharmacokinetics around delivery.

IUGA/ICS Terminology and Classification of Complications of Prosthesis and Graft Insertion-rereading Will Revalidate

American Journal of Obstetrics and Gynecology. Aug, 2012  |  Pubmed ID: 22939166

Twin-twin Transfusion Syndrome: the Good News Is; There is Still Room for Improvement €¦

Acta Obstetricia Et Gynecologica Scandinavica. Oct, 2012  |  Pubmed ID: 22984776

Contractions, a Risk for Premature Rupture of Fetal Membranes: A New Protocol with Cyclic Biaxial Tension

Medical Engineering & Physics. Sep, 2012  |  Pubmed ID: 22998894

This study aims at investigating the effect of repeated mechanical loading on the rupture and deformation properties of fetal membranes. Ten membranes delivered by cesarean sections were tested using a custom-built inflation device which provides a multi-axial stress state. For each membrane, a group of samples was first cyclically stretched by application of pressure ranging between 10 and 40mmHg. After cycles, samples were subjected to inflation up to rupture. Differences between mechanical parameters from cycled and uncycled samples were analyzed. Ten cycles at 40% of mean critical membrane tension-representative of mean physiologic contractions-did not affect strength and stiffness of fetal membranes but reduced the work to rupture, thus indicating that contractions might increase the risk of premature rupture of the membrane. Cyclic testing demonstrated a large hysteresis loop and irreversible deformation on the first cycle, followed by rapid stabilization on subsequent cycles. In 80% of tests, amnion ruptured first and at the periphery of the sample, under uniaxial strain state. Chorion ruptured at higher deformation levels in the middle, under biaxial strain state.

Intrauterine Surgery-choices and Limitations

Deutsches Ärzteblatt International. Sep, 2012  |  Pubmed ID: 23093990

The past decade has seen much progress in intrauterine surgery. Randomized trials have documented the benefit of some procedures of this type for the unborn child.

The Vascular Anastomoses in Monochorionic Twin Pregnancies and Their Clinical Consequences

American Journal of Obstetrics and Gynecology. Sep, 2012  |  Pubmed ID: 23103301

Monochorionic twin pregnancies are at increased risk of adverse outcome because of the vascular anastomoses that connect the 2 fetal circulation systems. The shared circulation is responsible for some unique complications in monochorionic twins, such as the twin-to-twin transfusion syndrome, the twin anemia polycythemia sequence, the twin reversed arterial perfusion sequence, and monoamniotic twinning. Another consequence of the shared circulation is that the well-being of one twin critically depends on that of the other. In this review, we will describe the technique of placental injection. Further, we will discuss the role of the vascular anastomoses in each of the complications described above and provide an update on their management.