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Biomedical subjects

K Vandenberghe

Publications and source records attributed to K Vandenberghe.

At least 19 recordsLinked to original sources

Prenatal diagnosis of a terminal short arm deletion of chromosome 8 in a fetus with an atrioventricular septal defect.

We report the prenatal diagnosis at 30 weeks of gestation of a del(8)(p21.3-->pter) in a growth-retarded fetus with an unbalanced atrioventricular septal defect (AVSD) and a hypoplastic right ventricle. This observation further confirms the association of AVSD with terminal deletions of chromosome 8p. Terminal deletions of chromosome 8p are more frequent than previously thought, but small terminal deletions can easily be overlooked. This observation illustrates that when an AVSD is diagnosed prenatally, special attention should be paid to distal chromosome 8p.

Adult

Fetal membrane closure techniques after hysteroamniotomy in the midgestational rabbit model.

OBJECTIVE: We studied closure techniques for amniotic access in midgestational rabbits. STUDY DESIGN: Twenty-eight rabbits with a total of 313 amniotic sacs were used for this study. In each animal a 1 cm hysteroamniotomy was made in two amniotic sacs at 22 days' gestation (term = 32). For 12 amniotic sacs (group 1) only the myometrium was closed by microsurgical suturing. In group 2 (n = 12), sutures included myometrium and membranes. In group 3 (n = 8), a collagen plug was placed, and in group 4 (n = 12) fibrin glue was used. Twelve sacs were left unclosed (positive controls) and the unmanipulated 257 sacs were negative controls. Eight days later (gestational age 30 days) amniotic sacs were evaluated for the presence of amniotic fluid, membrane integrity, and fetal weight and survival. Statistics were done with two-tailed Fisher's exact test and one-way analysis of variance. RESULTS: Membrane integrity (p = 0.0036) and amniotic fluid (p = 0.047) were best restored after myometrial closure. Fetal weight and survival rate were not affected by different closure techniques. CONCLUSION: In this model primary closure of the myometrium only yielded best results.

Amnion

Fetal cardiac tamponade due to an intrapericardial teratoma.

A case of an intrapericardial tumor diagnosed in utero at 26 weeks of gestation is presented. The prenatal echocardiographic follow-up of an incipient hydrops fetalis determined the management and the emergency surgical treatment. Histologically, the tumor appeared to be a benign teratoma, grade I. In the postoperative period an unexpected mediastinal tumor was found and removed later. This tumor also appeared to be a benign teratoma, grade 0. Both teratomas were independent and therefore primary.

Adult

Experience with fetoscopic cord ligation.

OBJECTIVE: In the case of a monochorionic multiple pregnancy with one non-viable fetus who compromises its co-twin, fetoscopic cord ligation may be performed. We describe our fetoscopic cord ligation technique and discuss the efficacy of cord ligation for salvaging the co-twin, based on available data. STUDY DESIGN: Descriptive case series of four cases and review of the cases published up to 1996. RESULTS: We performed four successful ligations. Of the 23 reported cases, which include the present series, two ligations failed. Four fetuses died in utero, and 17 were born alive at a mean of 8 weeks following the procedure. Two babies died in the perinatal period, a third after 60 days. Preterm uterine contractions do not seem to be a clinical problem. Preterm prelabour rupture of the membranes (PPROM) complicates about 40% of cases, the majority occurring prior to 32 weeks. CONCLUSION: Fetoscopic cord ligation is a feasible procedure with a 71% survival rate and a high risk for PPROM.

Adult

Tracheoscopic endoluminal plugging using an inflatable device in the fetal lamb model.

OBJECTIVE: Intra-uterine tracheal occlusion has been proposed to reverse pulmonary hypoplasia, an important prognostic factor in congenital diaphragmatic hernia. We aimed to evaluate the feasibility and pulmonary effects of tracheoscopic tracheal obstruction with a detachable balloon. STUDY DESIGN: Fourteen mid-trimester fetuses out of 24 in 13 ewes underwent tracheoscopic balloon obstruction. Ten non-operated fetuses served as controls. Plugging was performed under fiber-tracheoscopy using a detachable balloon. Outcome measures consisted of: total operating time, tracheoscopy time, fetal survival, efficiency of plugging, and pulmonary effects. The Mann-Whitney test and linear regression were used for statistical analysis. RESULTS: Mean operating time and tracheoscopy time were 65+/-12 and 6.6+/-3.9 min, respectively. One intra-operative death occurred in each group. The post-operative mortality was 2/13 for cases and 2/9 for controls. In all 14 fetuses, the trachea was successfully obstructed. In the 11 treated animals born alive, the lung-to-body-weight ratio was 0.060+/-0.01, while in controls it was 0.031+/-0.01 (P = 0.0001). In a subset of six fetuses obstructed for 14-18 days, mean-terminal-bronchial density was 0.95+/-0.59, compared to 2.06+/-0.80 for controls (P = 0.046). CONCLUSIONS: Using fetal tracheoscopy, the trachea can successfully be obstructed with an inflatable balloon. Pulmonary hyperplasia is achieved when the obstruction lasts 2 weeks.

Animals

Alternative technique for Nd: YAG laser coagulation in twin-to-twin transfusion syndrome with anterior placenta.

Nd: YAG laser coagulation is used to treat severe twin-to-twin transfusion syndrome (TTS). Success of the technique depends on visualization of the placenta, the fetal membranes and the targeted vessels, as well as obtaining an optimal inclination angle for laser coagulation. In the rare case of an extensive anterior placenta, it may be difficult to achieve these conditions using the percutaneous approach. Here, we propose an alternative to the percutaneous procedure. Modifications involve an open access and the use of a flexible cannula and bent scope. An extraplacental area, usually at the fundus, is identified by B-mode and color Doppler imaging. A mini-laparotomy is made under general anesthesia. The viscera are retracted and the cannula is inserted under direct view and ultrasound control by the Seldinger technique. The curved fiberscope is passed through the flexible cannula, allowing adequate inspection of the placenta, and target vessels can be coagulated at an angle close to 90 degrees. After the procedure, the uterus is closed primarily to prevent postoperative leakage of amniotic fluid or hemorrhage. This technique has been successfully used in six patients with TTS and a completely anterior placenta, with a gestational age between 18.5 and 22.0 weeks. In all patients, the amniotic cavity was accessed without hemorrhage. The outcomes are similar to those published previously for laser coagulation. The mean interval from intervention until delivery was 10.5 weeks. All 12 fetuses were live born but four died from complications of extreme prematurity. No maternal complications occurred.

Female

Effect of creatine loading on endurance capacity and sprint power in cyclists.

The effect of creatine loading on endurance capacity and sprint performance was investigated in elite cyclists according to a double-blind cross-over study design. Subjects (n = 12) underwent on 3 occasions and separated by 5 week wash-out periods, a 2 h 30 min standardized endurance protocol on their own race bicycle, which was mounted on an electromagnetically braked roller-system, whereupon they cycled to exhaustion at their predetermined 4 mmol lactate threshold. Immediately thereafter they performed 5 maximal 10 second sprints, separated by 2 min recovery intervals, on a Monark bicycle ergometer at 6 kg resistance on the flywheel. Before the exercise test, subjects were either creatine loaded (C: 25 g creatine monohydrate/day, 5 days) or were creatine loaded plus ingested creatine during the exercise test (CC: 5 g/h), or received placebo (P). Compared with P, C but not CC increased (p<0.05) peak and mean sprint power output by 8-9% for all 5 sprints. Endurance time to exhaustion was not affected by either C or CC. It is concluded that creatine loading improves intermittent sprint capacity at the end of endurance exercise to fatigue. This ergogenic action is counteracted by high dose creatine intake during exercise.

Adolescent

Polyhydramnios as a prenatal symptom of the digeorge/velo-cardio-facial syndrome.

Prenatal diagnosis of the DiGeorge/velo-cardio-facial syndrome has become possible since it was recognized that this syndrome is caused by a submicroscopic deletion in chromosome 22q11. In a sporadic patient presenting a conotruncal heart defect and polyhydramnios, the del 22q11 was made prenatally by fluorescence in situ hybridization (FISH) after amniocentesis. Seven additional patients with a del 22q11 were identified, who presented during pregnancy with polyhydramnios. In one of them, unilateral hydronephrosis was present. These findings further add to a growing list of clinical presentations of a del 22q11 and suggest that in patients with polyhydramnios and a conotruncal heart defect or uropathy, fetal karyotyping should be complemented by FISH for a del 22q11.

Amniocentesis

Diagnostic echographic findings in cryptophthalmos syndrome (Fraser syndrome).

We report two male siblings with cryptophthalmos syndrome (Fraser syndrome), an autosomal recessive multiple malformation syndrome with cryptophthalmos, abnormal genitalia, and syndactyly of the fingers and toes as major clinical symptoms. Renal anomalies (uni- or bilateral agenesis) occur in 85 per cent. In the second trimester of both pregnancies (at 23.5 and 18.5 weeks, respectively), echographic examination revealed multiple anomalies: oligoamnios sequence and fetal hydrops with nuchal oedema. Contrasting with the oligohydramnios, the lungs were voluminous and hyperechogenic. Fetopathological examination revealed that the oligoamnios sequence was due to major renal abnormalities (bilateral renal agenesis in the first, and unilateral renal agenesis and contralateral multicystic renal dysplasia in the second sibling). Laryngeal substenosis had resulted in another malformation sequence consisting of overdistended lungs, and non-immune fetal hydrops. The present experience shows that in the presence of an oligoamnios sequence with contrastingly voluminous, hyperechogenic lungs, the diagnosis of cryptophthalmos syndrome should seriously be considered in the differential diagnosis.

Abnormalities, Multiple

Tracheoscopic endotracheal occlusion in the ovine model: technique and pulmonary effects.

BACKGROUND/PURPOSE: The purpose of this study was to assess the tracheoscopic placement of a detachable balloon to obstruct the trachea in the fetal lamb model and to study the pulmonary effects 2 weeks later. METHODS: Thirteen pregnant ewes carrying 27 fetuses were used in this trial. Thirteen fetuses underwent endotracheal plugging at a mean gestational age of 95 (90 to 100) days (term, 145). Fourteen nonoperated fetuses served as controls. The intended duration of obstruction was 15 days. Study parameters consisted of operating time, fetal survival, performance of the balloon, and pulmonary changes. RESULTS: Hysterotomy time was 41 +/- 25 minutes and tracheoscopy time was 7.2 +/- 3.4 minutes. There were no intraoperative deaths in this series. Postoperative fatalities occurred in 2 of 13 plugged fetuses and 1 of 14 controls. At completion of the experiment, the balloon was recovered intact in the trachea of 12 of 13 (92.3%) fetuses. The lung weight/body weight ratio was 76 +/- 16 mg/kg for plugged animals, while in controls it was 34 +/- 8 mg/kg (P = .0001). The lung volume/body weight ratio was 101 +/- 17 mL/kg in plugged fetuses, compared with 47 +/- 4 mL/kg for controls (P = .0002). Mean-terminal-bronchial-density was 0.937 +/- 0.303 for plugged animals, compared with 1.911 +/- 0.441 for controls (P = .0002). Mean linear intercept was 60.9 +/- 5.2 microm in treated fetuses, and 46.3 +/- 5.8 microm for controls (P = .0004). CONCLUSIONS: Fetal endotracheal occlusion, using a tracheoscopically placed detachable balloon, is reliable, and results in pulmonary hyperplasia after 2 weeks of obstruction. This technique may be beneficial in treating the pulmonary hypoplasia seen in congenital diaphragmatic hernia. Further studies using this balloon device are now required to corroborate these findings.

Abnormalities, Multiple

Access techniques in endoscopic fetal surgery.

Endoscopic surgery may in the future become an attractive alternative to open fetal surgery. Herein, we present our evolving experience with minimal access techniques in sheep and nonhuman primate models. Fifty-two pregnant sheep (term = 145 d) were used. All underwent laparotomy. Cannulas were 5 mm diameter with balloon fixation device. In group I (95-105 d, n = 22, and 70-74 d, n = 19), a total of 119 cannulas were placed by open hysterotomy and pursestring suture through myometrium and membranes. In group II (n = 11), access was obtained by Seldinger guidewire technique. Eight cannulas were introduced over a dilator and 7 were radially expanding endoscopic cannulas. Fifteen cannulas were also placed in 5 pregnant Rhesus monkeys using Seldinger and radially expanding techniques. Cannula removal was followed by insertion of a collagen sponge plug and oversewing of the myometrium. Mini-hysterotomies with purse-stringing provided excellent access to the amniotic cavity, without dissection of the membranes. Classic Seldinger technique with forward dilatation was equally effective, but caused stretching of membranes. In sheep and in primates, Seldinger technique with radial dilatation allowed safe access without membrane separation. Leak-proof removal of the cannulas was achieved in all primates. Open hysterotomy with purse-string and balloon-tipped cannula provides efficient and safe access to the gravid sheep uterus. Seldinger technique allows equally secure access, and alleviates the need for hysterotomies. Radial dilatation of the porthole eliminates forward dissection of the membranes, both in sheep and primate models. This method, and collagen plug insertion upon completion of the endoscopic procedure, may provide a truly minimally invasive approach to in-utero surgery.

Animals

Intrauterine tracheal obstruction, a new treatment for congenital diaphragmatic hernia, decreases amniotic fluid sodium and chloride concentrations in the fetal lamb.

OBJECTIVE: To evaluate the effect of fetal tracheal occlusion on sodium and chloride concentrations in amniotic and tracheal fluid. SUMMARY BACKGROUND DATA: Intrauterine tracheal occlusion has been proposed to reverse pulmonary hypoplasia, an important prognostic factor in congenital diaphragmatic hernia. In early human trials, technical failure of the obstructive device has been reported. METHODS: Eight fetal lambs (gestational age = 95 days) were subjected to fetal tracheoscopy, and amniotic and tracheal fluid samples were taken. In multiple pregnancies (n = 6), amniotic fluid was also sampled from the contralateral amniotic sac and used as a control. Subsequently, endotracheal obstruction, using a detachable balloon, was performed. After 14 days, all fetuses were delivered, and sodium and chloride concentrations in amniotic and tracheal fluid were measured again. Statistical analysis was done using a two-tailed Student's t test, paired or unpaired as appropriate. RESULTS: In controls, between 95 and 109 days gestational age, no significant changes occurred in sodium or chloride concentrations in amniotic or tracheal fluid. After 2 weeks of tracheal obstruction, however, chloride and sodium concentrations in amniotic fluid decreased (chloride = 76.7 mEq/L vs. 107.6 mEq/L, p = 0.0003; sodium = 109.6 mEq/L vs. 125.9 +/- 5.2 mEq/L, p = 0.019). A concomitant increase in chloride and sodium concentration was observed in tracheal fluid (chloride = 145.4 mEq/L vs. 130.0 mEq/L, p = 0.047; sodium = 153.1 mEq/L vs. 142.9 mEq/L, p = 0.051). When comparing groups at 109 days, chloride and sodium concentrations in amniotic fluid were markedly lower in the treated group versus controls (p = 0.0004 and p = 0.05 for chloride and sodium, respectively). CONCLUSION: Complete tracheal occlusion in ovine fetuses results in a significant decrease of amniotic fluid sodium and chloride concentrations.

Amniotic Fluid

Chromosome 22q11 deletion presenting as the Potter sequence.

A female fetus with the Potter sequence, caused by unilateral renal agenesis and contralateral multicystic renal dysplasia, was found to have a submicroscopic deletion in chromosome 22q11. The only associated anomaly was agenesis of the uterus and oviducts (Von Mayer-Rokitansky-Küster anomaly). The deletion was inherited from the father, who presented the typical velocardiofacial syndrome phenotype, but no urological anomalies. This observation further extends the clinical spectrum associated with a deletion in 22q11.

Abnormalities, Multiple

Long-term creatine intake is beneficial to muscle performance during resistance training.

The effects of oral creatine supplementation on muscle phosphocreatine (PCr) concentration, muscle strength, and body composition were investigated in young female volunteers (n = 19) during 10 wk of resistance training (3 h/wk). Compared with placebo, 4 days of high-dose creatine intake (20 g/day) increased (P < 0.05) muscle PCr concentration by 6%. Thereafter, this increase was maintained during 10 wk of training associated with low-dose creatine intake (5 g/day). Compared with placebo, maximal strength of the muscle groups trained, maximal intermittent exercise capacity of the arm flexors, and fat-free mass were increased 20-25, 10-25, and 60% more (P < 0. 05), respectively, during creatine supplementation. Muscle PCr and strength, intermittent exercise capacity, and fat-free mass subsequently remained at a higher level in the creatine group than in the placebo group during 10 wk of detraining while low-dose creatine was continued. Finally, on cessation of creatine intake, muscle PCr in the creatine group returned to normal within 4 wk. It is concluded that long-term creatine supplementation enhances the progress of muscle strength during resistance training in sedentary females.

Adenosine Triphosphate

Prenatal diagnosis in Belgium.

Prenatal diagnoses (PND) in Belgium are performed exclusively in licensed centres of medical genetics linked to university hospitals. These centres of genetics provide comprehensive genetic services which include, in addition to genetic tests, genetic counselling and moral support. These services are accessible to all residents in Belgium through coverage by the social security. PND has become a widely accepted procedure by the public and the health professionals, and has achieved significant prevention of birth defects, mainly chromosome abnormalities. The main problems involved in PND in Belgium are (1) the lack of regulations about indications for PND and (2) insufficient education in medical genetics in medical schools. It is hoped that the basic organisation of PND in Belgium will prevail in the future, with the proposed improvements.

Belgium

Operative fetoscopy: new perspective in fetal therapy?

In a limited number of conditions in utero surgery may be life-saving, such as some cases of congenital diaphragmatic hernia, cystic adenomatoid malformation of the lung, sacrococcygeal teratoma and lower urinary tract obstruction. Postoperative premature labour and its extreme invasiveness have been major drawbacks for open fetal surgery. More recently the merger of fetoscopy and advanced video-endoscopic surgery has been the basis of the concept of endoscopic fetal surgery. In order to evaluate the opportunities of 'fetendo' surgery, animal models have been developed to test the safety of the endoscopic approach, and the feasibility of surgical manipulations on the fetus. In the non-human primate, a lesser invasiveness of endoscopy over open surgical approach was demonstrated, by a significant decrease in uterine activity in comparison with hysterotomy. The main application of fetoscopy today is the surgical treatment of complicated or abnormal monochorionic twin gestations. Fetoscopic laser coagulation of chorionic plate vessels is suggested as a causal therapy for severe feto-fetal transfusion syndrome. Survival rates are around 55 per cent with an incidence of five per cent of neurological morbidity. Fetoscopic cord ligation is associated with a 66 per cent survival rate, but unfortunately also with a risk of 30 per cent for PPROM prior to 32 weeks. Although still in its early experimental phase, endoscopy seems to offer new hope for surgical fetal therapy. Though conceptually very tempting, the development of endoscopic fetal surgery should follow the formal guidelines, as earlier formulated for open surgery by the International Fetal Medicine and Surgery Society. The prospective registration of worldwide experience is advocated and a randomized trial of laser therapy versus amniodrainage is announced.

Animals