Fetal surgical intervention

Despite advances in perinatal management, some congenital disorders continue to have significant morbidity and mortality both in utero and in the early postnatal period. In selected anomalies, fetal surgical intervention can alter the natural history of the disorder, leading to improved survival rates and functional outcomes. While therapies are primarily aimed at life-threatening disorders, some significantly morbid disorders may also be addressed prenatally. Potential indications for fetal surgery include mass lesions causing hydrops fetalis, congenital diaphragmatic hernia, myelomeningocele, urinary obstruction and disorders of twins. A thorough prenatal evaluation and extensive family counseling are necessary prior to intervention. Improvements in minimally invasive techniques may minimize the greatest challenge of fetal surgery, management of postoperative preterm labor.     

Fetal surgery for sacrococcygeal teratoma

A great deal has been learned regarding the natural history and pathophysiology of fetal SCT. The logic behind fetal intervention for SCT and hydrops appears to be correct, and open and minimal access techniques of fetal intervention have been shown to be feasible. The development of fetal intervention for SCT has mirrored those developed for other diseases such as congenital diaphragmatic hernia. In a recent presentation, Harrison, the original pioneer in fetal surgery, outlined trends in fetal intervention. The first trend is that of moving from open, invasive techniques to minimally invasive techniques. In the case of SCT surgeons are moving from open resection to RFA and possibly to fetoscopic resection. The second trend outlined by Harrison is a movement away from total in utero repair of a defect that recapitulates postnatal treatment and toward manipulation of fetal pathophysiology to reverse life-threatening events. In SCT surgeons employ RFA to ablate causative blood vessels to reverse fetal hydrops with the knowledge that these fetuses will require postnatal resection of the tumor. In contrast to resection, RFA requires less time and significantly less maternal morbidity than open resection. Further study is required to determine the role of minimal access techniques in SCT. Future directions for treatment of fetal SCT with hydrops might include fetoscopic resection or high-intensity ultrasound ablation.     

Fetal surgery for congenital diaphragmatic hernia is back from never gone

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.     

Open fetal surgery for life-threatening fetal malformations

After more than two decades of experimental and clinical work, fetal surgery has become an accepted treatment modality for selected fetuses with life-threatening anomalies. Color Doppler ultrasound and ultrafast fetal magnetic resonance imaging have enhanced the accuracy of prenatal evaluation traditionally made by ultrasound alone. Fetal lung masses associated with hydrops are nearly 100% fatal. These lesions can be resected in utero if they are predominantly solid or multicystic. Thoracoamniotic shunting may be effective in the setting of a single large predominant cyst. Fetuses diagnosed with left congenital diaphragmatic hernia before 26 weeks' gestation with liver herniation and a sonographic right lung to head circumference ratio (LHR) of less than one may benefit from fetal tracheal occlusion. Fetal sacrococcygeal teratoma complicated with placentomegaly, hydrops, or progressive high output heart failure may benefit from in utero resection of the tumor. Although preterm labor still remains the Achilles heel of open fetal surgery, effective tocolysis may, in the future, expand the scope of fetal surgery.     

The intersection of fetal palliative care and fetal surgery: Addressing mortality and quality of life

Over the last few decades, the fields of fetal surgery and maternal–fetal medicine have developed interventions aimed at modifying severe diseases in utero. Innovations in fetal approaches to congenital diaphragmatic hernia and myelomeningocele have shown considerable promise in modifying the clinical course with fetal intervention. Patients who present to fetal centers to be evaluated for these interventions face challenging decisions that directly relate to questions of mortality and quality of life. This article explores how clinicians might apply the tools and principles of fetal palliative care to supporting a woman and her family who are considering fetal surgery.     

Invasive intrauterine Therapie

Some fetuses with malformations which cannot wait for therapy after birth may benefit from intra-uterine fetal therapy in order to either prevent permanent damage or to save their life. Criteria for fetal surgery are the possibility of an accurate diagnosis with exclusion of associated anomalies and reversibility of deleterious effects of the condition by a fetal intervention at specialized multidisciplinary treatment centers with a much better prognosis afterwards. Examples of intra-uterine fetal therapy are open fetal surgery for fetal myelomeningocele (MMC) repair, fetal endoscopic tracheal occlusion in congenital diaphragmatic hernia (CDH) and fetoscopic laser coagulation in twin-twin transfusion syndrome (TTTS). The main complication of fetal surgery is the premature rupture of membranes.     

Fetal diagnosis and fetal surgery

Accurate fetal diagnosis became possible by the steadily increasingly complex techniques of amniocentesis, ultrasound, and ultrasound-guided fetal blood sampling and chorion villous sampling. A high degree of diagnostic accuracy for a wide variety of structural and metabolic anomalies is required. The field of fetal diagnosis has been extended to the point that a journal dedicated to this subject alone is a viable proposition. It is becoming apparent, however, that lesions that were well known and well understood when recognized in neonatal life appear in general to have a worse prognosis if the lesion is diagnosed in utero. Fetal surgery began with attempts to perform in utero transfusions for babies with erythroblastosis fetalis. For a while, there was competition between open surgical procedures and the percutaneous placement of blood through catheters introduced into the fetal peritoneal cavity from outside the mother's abdomen. For fetal transfusion, closed techniques proved far safer and just as efficacious. There has been a worldwide interest in shunting of hydrocephalus and obstructive uropathy. The results of shunting hydrocephalus have been disappointing, with most of the patients surviving, but most of the survivors being severely handicapped. The results of shunting obstructive uropathy were that only about 50 per cent of the babies survived, but it appeared that those that did survive did well. Other lesions that have been shunted have been hydrothoraces or fetal ascites. A limited number of open procedures have been carried out in the last few years in San Francisco, and it may well be that diaphragmatic hernia (in appropriately selected patients) will be a lesion that can be corrected by in utero surgery. The future of this field is exciting, but before this form of treatment becomes routine, the ethical implications of the possibility of fetal surgery must be defined much more clearly than is currently the case.     

Fetal surgery

Interest in correcting fetal pathology before birth has been stimulated by advancing experimental technology and improvements in the ability of ultrasound to look into the uterus. In this article, diagnosis, management and treatments of three congenital defects, hydronephrosis, ventriculomegaly, and diaphragmatic hernia are discussed. The future of fetal in utero surgery also is considered.     

Fetal surgery for congenital diaphragmatic hernia and pulmonary sequestration complicated by postnatal diagnosis of transposition of the great arteries

This report describes the case of a neonate who underwent fetal surgery for congenital diaphragmatic hernia (CDH) and pulmonary sequestration. His postnatal management was complicated by the additional diagnosis of transposition of the great arteries (TGA). TGA is particularly difficult to diagnose in the fetus. This triad has not previously been documented in the literature. Clinicians should have a high index of suspicion for associated anomalies, especially cardiac, when evaluating and counseling a pregnancy complicated by CDH.     

Fetal surgery for congenital diaphragmatic hernia: the North American experience

The role for fetal surgery in treating fetuses with congenital diaphragmatic hernia (CDH) is unclear. Two decades of investigation have improved our understanding of the prenatal natural history, pathophysiology, and outcomes of these patients. During this same period, there have been advances in fetal surgery techniques including improvements in fetal monitoring, maternal-fetal anesthesia, tocolysis, and improved instrumentation to permit increased application of videoscopic approaches. Because of technical challenges, open fetal repair of CDH has been abandoned. Fetal tracheal ligation has shown promise, but a recently published prospective, randomized trial failed to show a benefit of fetoscopic tracheal ligation compared with expert postnatal treatment. Although there is evidence that postnatal outcomes for infants with this disease have improved with the adoption of gentilation ventilator management, high-frequency ventilation, and ECMO, there continues to be a subset of infants with severe CDH that die or suffer serious long-term morbidity despite advanced surgical care. The purpose of this article is to review issues related to prenatal diagnosis, patient selection, and outcomes for fetal surgery; and ultimately to assess whether there is a role for fetal surgery in treating fetuses with CDH.     

Encouraging early clinical experience with deliberately delayed temporary fetoscopic tracheal occlusion for the prenatal treatment of life-threatening right and left congenital diaphragmatic hernias

OBJECTIVE: In order to assess the effect of deliberately delayed percutaneous fetoscopic tracheal occlusion on survival of fetuses with life-threatening congenital diaphragmatic hernia. METHODS: Eight fetuses with life-threatening congenital diaphragmatic hernia underwent fetoscopic tracheal balloon occlusion between 29 + 0 and 32 + 4 weeks of gestation. Delayed occlusion was chosen in order to minimize potentially negative pulmonary effects from premature delivery as a result of fetal surgery. In addition, we wanted to become able to provide all available postnatal intensive care treatment means in these patients. RESULTS: Six of the 8 fetuses survived to discharge from hospital. CONCLUSION: Delayed fetoscopic tracheal balloon occlusion may be rewarded with lung growth sufficient to allow survival of fetuses with life-threatening congenital diaphragmatic hernia.     

New and/or improved aspects of fetal surgery

Open fetal surgery through a wide hysterotomy is no longer a real option for prenatal intervention, but a minimally invasive approach has emerged as treatment for a small number of indications. Endoscopic ablation of placental vessels is the preferred treatment for severe twin-to-twin transfusion syndrome and it may be the only chance to salvage the most severe forms of congenital diaphragmatic hernia. Several other indications are currently under review and may become justified in the future, provided that diagnostic accuracy and patient selection become more accurate. Before invasive fetal intervention becomes widely accepted, however, we need to better define outcome. It is no longer acceptable to express results in terms of survival at birth. Survival at discharge and long-term morbidity must be considered as well.     

Treatment of severe congenital diaphragmatic hernia by fetal tracheal occlusion: clinical experience with fifteen cases

OBJECTIVE: Our purpose was to determine whether prenatal tracheal occlusion improves survival in a selected population of fetuses affected by severe congenital diaphragmatic hernia. STUDY DESIGN: Fetuses with isolated congenital diaphragmatic hernia were selected as candidates for fetal intervention by specific criteria designed to predict a 90% mortality rate with conventional postnatal treatment. RESULTS: Fifteen fetuses underwent tracheal occlusion with 5 survivors (33%). Two fetuses were lost to early preterm labor. In 13 mothers, postoperative gestation ranged from 19 to 68 days, with a mean duration of pregnancy after tracheal occlusion of 38 days. The 5 survivors were hospitalized for an average of 76 days. Despite dramatic lung growth in some fetuses after tracheal occlusion, intensive management was required, and most deaths were caused by respiratory insufficiency. CONCLUSION: Prenatal tracheal occlusion can result in impressive lung growth in a subset of fetuses with severe congenital diaphragmatic hernia. However, survival remains compromised by pulmonary functional abnormality and the consequences of prematurity.     

Fetal therapy

Over the past 40 years, a small but increasing number of fetal genetic and congenital anomalies has become amenable to in utero treatment. Successful fetal therapies have included open procedures for congenital diaphragmatic hernia, cystadenomatoid malformation of the lung and saccrococygeal teratoma, shunts for uropathies and thoracic fluids, pharmacological therapies for congenital adrenal hyperplasia and neural tube defect prevention, and the stem cell treatment of severe combined immunodeficiency disorder.     

Minimal access fetal surgery

The development of fetal surgery has led to promising therapeutic options for a number of congenital malformations. However, preterm labor (PTL) and premature rupture of membranes continue to be ubiquitous risks for both mother and fetus. To reduce maternal morbidity and the risk of prematurity, minimal access surgical techniques were developed and are increasingly employed. Congenital diaphragmatic hernia (CDH), obstructive uropathy, twin-to-twin transfusion syndrome (TTTS), and sacrococcygeal teratoma have already been successfully treated using minimal access fetal surgical procedures. Other life-threatening diseases as well as severely disabling but not life-threatening conditions are potentially amenable to treatment. The wider application of minimal access fetal surgery depends on a continued improvement in technology and a better understanding of complications associated with fetal intervention.     

先天性膈疝的宫内诊断和治疗

影响先天性膈疝(CDH)预后的主要因素是肺发育不良和肺动脉高压,目前各种出生后治疗手段均不能直接、立即改变已经存在的肺发育不良状态,故无法从根本上改善严重CDH的预后。宫内诊断并适时进行干预可能成为CDH有效的一种治疗手段。文章介绍了超声及MR I检查在CDH宫内诊断与肺发育程度评估方面的应用、以胎儿镜下胎儿气管球囊封堵术为重点的宫内干预及子宫外产时处理技术的应用。     

Fetal surgery for severe lower urinary tract obstruction

Fetal interventions have been proposed for treatment of severe lower urinary tract obstruction (LUTO), as this condition is associated with high rates of perinatal mortality and postnatal renal impairment. The rationale for in utero treatment for those cases is based on the possibility of relieving the obstruction, improving the amniotic fluid volume, and preventing renal and bladder damage. Candidates for fetal intervention should be rigorously selected based on the confirmation of severe LUTO (dilated bladder and bilateral hydronephrosis), oligohydramnios or anyhydramnios and 'favorable' fetal urinalysis (dependent on gestational age). Nowadays there are two different therapeutic options with specific technical approaches. Vesico-amniotic shunting is an easier procedure, but with a higher frequency of related complications. Fetal cystoscopy can be used for diagnostic purpose and for treatment of posterior urethral valves, with suggestive advantage of allowing a more physiological release of the obstruction. According to the literature, estimated survival rates and postnatal normal renal function frequencies are approximately 40 and 50% after vesico-amniotic shunting and 75 and 65% after fetal cystoscopy, respectively.     

Congenital diaphragmatic hernia. Prenatal diagnosis and neonatal outcome]

BACKGROUND: The objective of this study is to determine the management and the outcome of 17 cases of congenital diaphragmatic hernia observed, and to compare the results with the literature data. METHODS: The study was made between June 1994 and June 1998 in the Department of Obstetrics and Gynecology of the University of Naples Federico II and it collected 17 pregnant women with diagnosed or suspected congenital diaphragmatic hernia, referred to our diagnostic unit from other institutes: between 18 and 37 weeks' gestation, a detailed ultrasound examination and an echocardiography were performed to confirm the diagnosis, to establish the site and contents of the hernia exactly and to detect associated structural malformations. Fetal kariotyping was made in 7 cases. When the women decided to continue pregnancy, or the legal limit for termination of pregnancy was exceeded, the pregnancy was monitored with ultrasound examination, delivery took place in our department and the baby was transferred to an intensive care unit. RESULTS: Ultrasound examination led to the diagnosis of 14 postero-lateral left-sided diaphragmatic hernias (82.3%), 1 antero-lateral left-sided (5.9%), 1 bilateral postero-lateral sided (5.9%) and 1 diaphragmatic eventration (5.9%). Associated structural malformation were diagnosed in 4 fetuses (27%). In 1 case only (14.3% of examinated kariotyping) an abnormal result was found. Five pregnancies (29.4%) were terminated, 2 (11.7%) are still going on and 10 fetuses (58.9%) were born alive: 5 fetuses (50%) died in the first days of life before surgical intervention, 2 (40% of operated children and 20% of born alive) died after the operation and 3 (60% of operated children and 30% of born alive) are actually alive and in good health. The total postnatal mortality was 70% and 40% after operation. CONCLUSIONS: From the analysis of these data and from the international literature the conclusion is drawn that congenital diaphragmatic hernia is associated with a high postnatal mortality, although potentially it can be corrected with surgery: a better postnatal management and a better knowledge of evaluable in uterus prognostic factors are necessary to improve postnatal outcome.     

Fetal magnetic resonance imaging

PURPOSE OF REVIEW: Fetal magnetic resonance imaging is becoming more used in the evaluation of complex fetal abnormalities. Rapid advances in the technology and application of fetal magnetic resonance imaging necessitate a review of this subject. RECENT FINDINGS: Diffusion-weighted imaging, magnetic resonance spectroscopy and functional magnetic resonance imaging may allow assessment of fetal brain even before anatomical abnormalities are demonstrated. We discuss the uses of fetal magnetic resonance imaging in better assessment of pulmonary hypoplasia, congenital diaphragmatic hernia and renal anomalies. SUMMARY: The additional information from fetal magnetic resonance imaging, beyond that obtained by ultrasound, is invaluable in prenatal counseling, delivery planning and planning for pre- or postnatal intervention. As intrauterine and neonatal surgery evolve, so will the utilization of fetal magnetic resonance imaging.