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Objectives: To reach an international expert consensus on the diagnosis, prognosis and management of fetal lower urinary tract obstruction (LUTO) by means of a Delphi procedure, and to use this to define a core outcome set (COS)., Methods: A three-round Delphi procedure was conducted among an international panel of experts in fetal LUTO. The panel was provided with a list of literature-based parameters to consider for the diagnosis, prognosis, management and outcomes of LUTO. A parallel procedure was conducted with patient groups during the development of the COS., Results: A total of 168 experts were approached, of whom 99 completed the first round and 80/99 (80.8%) completed all three rounds of the study questionnaires. Consensus was reached that, in the first trimester, an objective measurement of longitudinal bladder diameter of ≥ 7 mm should be used to suspect LUTO. In the second trimester, imaging parameters suggestive of LUTO could include enlarged bladder, keyhole sign, bladder wall thickening, bilateral hydronephrosis, bilateral hydroureteronephrosis and male sex. There was 79% agreement that the current prognostic scoring systems in the literature should not be used clinically. However, experts agreed on the value of amniotic fluid volume (at < 24 weeks) to predict survival and that the value of fetal intervention is to improve the chance of neonatal survival. Experts endorsed sonographic parameters suggestive of renal dysplasia, at least one vesicocentesis, and renal biochemistry for prognosis and counseling, but these items did not reach a consensus for determining candidacy for fetal intervention. On the other hand, imaging parameters suggestive of LUTO, absence of life-limiting structural or genetic anomalies, gestational age of ≥ 16 weeks and oligohydramnios (defined as deepest vertical pocket < 2 cm) should be used as candidacy criteria for fetal intervention based on expert consensus. If bladder refill was evaluated, it should be assessed subjectively. Vesicoamniotic shunt should be the first line of fetal intervention. In the presence of suspected fetal renal failure, serial amnioinfusion should be offered only as an experimental procedure under research protocols. A COS for future LUTO studies was agreed upon., Conclusion: International consensus on the diagnosis, prognosis and management of fetal LUTO, as well as the COS, should inform clinical care and research to optimize perinatal outcomes. © 2024 The Author(s). Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology., (© 2024 The Author(s). Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.)

Bronchopulmonary sequestration (BPS), which can be intralobar or extralobar, is a rare developmental anomaly of the lung characterized by nonfunctional pulmonary tissue without communication with the tracheobronchial tree and with an aberrant systemic arterial blood supply. The intralobar type is typically within the pleural cavity with an arterial feeding vessel generally arising from the thoracic aorta and with venous drainage into the left atrium. The prognosis is poor in cases diagnosed before 26 weeks' gestation and when there is mediastinal shift, polyhydramnios and fetal hydrops. The ideal prenatal management option remains undefined. We present a series of three complicated cases of intralobar BPS treated prenatally with percutaneous ultrasound-guided fetal sclerotherapy (FST). The feeding vessel was successfully accessed percutaneously under ultrasound guidance in all cases. FST with polidocanol resulted in complete obliteration of the blood flow to the mass. Abnormal Doppler findings, ascites, hydrops and polyhydramnios resolved and all patients were delivered at term. Antenatal treatment of patients with complicated BPS can be successfully achieved with FST, which is a simple and inexpensive technique. Comparison of risks and benefits of this approach with other techniques is warranted., (Copyright (c) 2007 ISUOG.)

Objective: Vesicoamniotic shunting may be difficult or impossible in selected cases of fetal lower obstructive uropathy. The purpose of this article is to describe the performance of fetal hydrolaparoscopy and endoscopic fetal cystotomy in two fetuses with complicated lower obstructive uropathy., Study Design: Fetal hydrolaparoscopy-endoscopic fetal cystotomy was performed in a patient with a markedly thickened bladder that could not be entered percutaneously. A peritoneoamniotic (bridge) shunt was also placed. Fetal hydrolaparoscopy-endoscopic fetal cystotomy was performed in a second patient with a collapsed bladder from a previous vesicocentesis, because vesicoinfusion resulted in further ascites. Fetal cystoscopy was performed after endoscopic fetal cystotomy, and posterior urethral valves were ablated with neodymium:yttrium-aluminum-garnet laser energy. A vesicoamniotic shunt was left in place., Results: Adequate bladder drainage was obtained in both cases. The first baby required bilateral nephrotomy and a permanent cystotomy at birth and is scheduled for a bladder expansion procedure at the age of year. The second patient had premature rupture of membranes and fetal death from treatment of this complication 5 days after the original procedure., Conclusion: Fetal hydrolaparoscopy-endoscopic fetal cystotomy can be performed in complicated cases of lower obstructive uropathy. The procedure involves the creation of a defect in the bladder dome under direct endoscopic visualization within a spontaneous or intentional hydroperitoneum. Peritoneoamniotic shunting, vesicoamniotic shunting, or ablation of posterior urethral valves may then be performed. Fetal hydrolaparoscopy-endoscopic fetal cystotomy should be reserved only for complicated cases of lower obstructive uropathy in which conventional vesicoamniotic shunting is not safely possible. Further experience with fetal hydrolaparoscopy-endoscopic fetal cystotomy is necessary to establish its risks and benefits.

Fetal lower urinary tract obstructive uropathy, when associated with oligohydramnios, is usually associated with a poor outcome. We present a case of successful in utero endoscopic ablation of posterior urethral valves in which the infant survived the neonatal period without evidence of renal dysplasia. The role, indications, and potential benefits of this novel technique are discussed.

Amniotic band syndrome is a sporadic condition that occurs in approximately 1:1200 to 1:15,000 live births and that may result in amputations, constrictions and other deformities of the fetus. Although some cases present with congenital anomalies that are beyond surgical repair, a selected group of fetuses may show isolated limb constriction. It has been speculated that, without treatment, amputation or severe dysfunction of the limb may occur. Despite these potential complications, surgical treatment for this selected group of fetuses has not been previously performed. We report two cases that were successfully treated using novel minimally invasive surgical techniques. The cases involved fetuses with amniotic band syndrome with associated limb constriction in which the amniotic band was surgically interrupted to avoid spontaneous amputation of the extremity. Adequate blood flow distal to the obstruction was preserved and significant functional improvement of the extremity occurred in both cases, preserving the limbs. These cases represent the first prenatal surgical intervention successfully used to treat constricting amniotic bands in humans. In addition, these cases represent the first time that a non-lethal fetal entity has been surgically treated in utero. The results of this innovative therapy will encourage the efforts to continue developing minimally invasive techniques for the correction of birth defects.

Selective termination for an anomalous twin in discordant twin pregnancy has been a management option for nearly two decades. Using current conventional prenatal diagnostic techniques, the diagnosis of a twin gestation discordant for a congenital anomaly is commonly confirmed in the second trimester. Selective termination is thus usually a second-trimester procedure. The risks of second-trimester terminations as well as protocol choices, including indications and timing, have evolved over the years. Ethical issues regarding selective termination have developed significantly and continue to be debated.

Objective: Prenatally diagnosed methylmalonic aciduria (MMA) has been treated in only a few fetuses, and has been done empirically with maternally administered cyanocobalamin (B12) in attempts to ameliorate sequelae that include failure to thrive, developmental delay, dehydration, and coma. There has not been a systematic attempt to titrate doses to fetal response. We investigated the alterations in maternal dosage necessary to keep maternal plasma (MP) and urine (MU) levels of MMA in the normal range secondary to the ability of pharmacological doses of B12 to catalyze the reaction of methylmalonyl-coenzyme A to succinyl-coenzyme A., Methods: A 28-year-old woman, with a 3-year-old son affected with MMA, underwent amniocentesis at 15 weeks which showed a normal karyotype, elevated amniotic fluid MMA, and decreased amniocyte 5'-deoxyadenosylcobalamin, propionate, and methyl-tetrahydrofolate. MP and MU MMA levels were measured biweekly. B12 doses were altered periodically according to laboratory-determined levels., Results: MP and MU levels varied with gestational age and in response to increases in maternally administered B12., Conclusions: With increasing gestation, fetal, and placental size, increasing doses of B12 are necessary to maintain MP and MU levels of MMA within normal range. The data suggest that close surveillance and frequent measurements of MMA are necessary to properly titrate B12 treatment.

Vesicoureteral reflux affects approximately 1% of newborns. Although most affected children show only sonographic evidence of renal pelvic dilatation, others may show overt hydronephrosis, indistinguishable from that seen in fetuses with obstructive uropathy. Hydronephrosis secondary to fetal vesicoureteral reflux cannot be differentiated on ultrasound examination from that resulting from lower obstructive uropathy with or without reflux. As renal damage from vesicoureteral reflux may occur in up to 70% of cases, early identification and possible in utero treatment of these fetuses may be warranted. We report a sonographic technique, vesicoinfusion, for diagnosis of vesicoureteric reflux in utero. The accurate identification of vesicoureteral reflux in utero may have important diagnostic, prognostic and therapeutic implications.

In fetuses with lower obstructive uropathy, sonography cannot establish the cause of obstruction. We assessed whether percutaneous fetal cystoscopy could be useful in the evaluation and treatment of obstructive defects in utero. We inserted a fibreoptic endoscope through the lumen of the needle or trocar into the fetal bladder at the time of vesicocentesis or vesicoamniotic-shunt placement and looked at the the urethra, bladder neck, and ureteral orifices. Urethral vesicoamniotic shunting was considered in suitable cases; otherwise a percutaneous shunt was inserted. Fetal cystoscopy was possible in 11 of 13 patients referred. The bladder mucosa appeared haemorrhagic or oedematous in three. The ureteral orifices were seen in 9/11 fetuses, dilation was seen in five, but was only suspected in two by ultrasound. Ureteral webs were noted in two other fetuses. Two of seven fetuses underwent urethral vesicoamniotic shunting; urethral patency was achieved with urethral probing alone in one fetus. The remaining four fetuses were shunted with a standard technique. Fetal cystoscopy helps define the underlying conditions responsible for sonographic findings of lower obstructive uropathy, and allows the introduction of new treatments.

Objectives: We have previously shown that Duchenne muscular dystrophy (DMD) can be diagnosed by fetal muscle biopsy and immunohistochemical staining showing the absence of dystrophin. In Becker muscular dystrophy (BMD), there is a variable dystrophin staining pattern., Study Design: A 26-year-old, gravida 5, para 1, SAB 2, VIP 1, white female had a son with the diagnosis of BMD, with no other affected family members. In the current pregnancy, the male fetus inherited the same X chromosome., Results: Fetal muscle biopsy revealed no dystrophin, consistent with the diagnosis of DMD, prompting re-analysis of the sibling whose diagnosis was then changed to DMD., Conclusions: Molecular techniques in prenatal diagnosis in this case not only led to the diagnosis of a severe disorder in the current pregnancy, but changed the diagnosis in another child, allowing for more appropriate counseling of this couple.

Objective: To develop a fetal muscle biopsy technique for immunohistochemical diagnosis of Duchenne and Becker muscular dystrophies., Methods: Data from two clinical centers and one reference laboratory were combined to show 12 completed cases, ten at risk for Duchenne muscular dystrophy, one for Becker muscular dystrophy, and one for mitochondrial myopathy. Samples of fetal gluteal muscle were obtained percutaneously under ultrasound guidance (some with endoscopic assistance) with a biopsy gun. The samples were frozen and assayed for dystrophin by immunohistochemical techniques., Results: Samples were obtained in 11 of 12 (92%) cases, and spontaneous abortion after the procedure occurred in two of 12 (17%) cases. Laboratory diagnoses were possible on small samples, and four of 12 fetuses (33%) were affected. Endoscopy with direct visualization might aid in the procedure., Conclusions: The development of fetal muscle biopsy allows for an expansion of the diagnostic possibilities for myopathies. The experiences of our two clinical centers show that the procedure can be done with accuracy and acceptable safety. The evolving laboratory experience has reduced the amount of tissue necessary for the diagnosis, increased the sophistication of the immunohistochemical analysis, allowed the diagnosis of abnormalities in different parts of the dystrophin gene, and expanded the indications for the use of fetal muscle biopsy. Fetal muscle biopsy can be used successfully for the diagnosis in otherwise uninformative cases, and there is a wide variety of indications beyond traditional Duchenne muscular dystrophy possible, including female fetuses at risk because of X-autosomal translocations.

Objective: The development of fluorescent in situ hybridization chromosome-specific probes has allowed the use of new fetal tissue collection techniques, such as fetal cells in maternal blood and coelocentesis--both of which, with current techniques, cannot generate complete karyotypes. We evaluated chromosome-specific probes for additional potential limitations in the setting of a high-risk prenatal diagnosis center., Study Design: The last 24 months of fetal karyotypes from our prenatal cytogenetics laboratory were analyzed for those abnormalities that should be detectable by chromosome-specific probes and those that would likely be missed., Results: In 6006 karyotypes 207 (3.4%) abnormalities were found, of which 104 were common trisomies, 12 triploidies, and 19 monosomies that would have been detected with current probe combinations (13, 18, 21, X, and Y) (135/207, 65.2%). Seventy-two abnormalities (35%) represented other trisomies (16/207, 7.7% for 9, 12, 15, 16) and rearrangements (inversions, translocation markers were 56/207, 27.1%), which would have been missed., Conclusions: Use of current fluorescent in situ hybridization chromosome-specific probes protocols would have detected only 65% of chromosome abnormalities in our high-risk population. Incomplete ascertainment must be weighed against the cost and speed of fluorescent in situ hybridization chromosome-specific probes when comparing it with traditional karyotyping. Although this new technique may prove useful in low-risk screening programs (fetal cells in maternal blood), its current use in high-risk populations should be questioned until its sensitivity is expanded to identify more subtle and less common chromosomal abnormalities.

The introduction of transabdominal fiberoptic thin-gauge visualization of the embryo or fetus in the first trimester allows an earlier diagnosis of congenital anomalies currently beyond the resolution of ultrasound. In addition, it has the true potential of providing access to the fetal circulation at an early age, an accomplishment that would have enormous diagnostic and therapeutic implications. In the second and third trimester, operative fetoscopic techniques promise to open a new frontier in the diagnosis and management of fetal surgical and medical conditions.

Objective: Our aim was to develop and evaluate a transabdominal endoscopic technique to visualize the embryo or fetus with thin-gauge needles and submillimetric fiberoptic endoscopes., Methods: Under ultrasonographic guidance, an 18- or 19-gauge thin-wall needle was introduced into the uterus of 28 patients undergoing first-trimester or early second-trimester termination of pregnancy. A 0.7 mm endoscope was threaded through the lumen of the needle after removal of the stylet. Visualization of the embryo-fetus was attempted before 14 weeks' gestation (n = 20). From 16 to 20 weeks (n = 8), the needle and endoscope were directed to the placental insertion of the umbilical cord, and a cordocentesis was performed., Results: Excellent visualization of the surface anatomy of fetuses from 7 to 13 weeks was obtained in 85% of cases (17/20). A diagnosis of Meckel-Gruber syndrome was made at 11 weeks' menstrual age by visualizing postaxial polydactyly and an occipital encephalocele. Endoscopically assisted cordocentesis allowed visualization of the lumen of the umbilical vein and of the blood flow within it., Conclusion: Endoscopic visualization of the embryo or fetus can be performed transabdominally in the first trimester with small-delivered endoscopes. This represents a clear advantage over previous endoscopic approaches to the human pregnancy. Potential applications of this technique include a precise description of fetal anatomy and physiologic features, diagnosis of anomalies, and therapeutic fetal interventions.

Objective: The purpose of this study was to evaluate embryoscopically the effect of placental trauma on the human embryo., Study Design: Patients undergoing elective first-trimester termination of pregnancy underwent transcervical embryoscopy both before and after chorionic villus sampling. If hemorrhagic lesions were not observed on the fetus after chorionic villus sampling, partial placental detachment was performed with a blunt instrument, and the fetus was again observed., Results: Hemorrhagic lesions were observed in 20 of 43 fetuses. In 13 of them, the lesions occurred after placental trauma with the chorionic villus sampling catheter alone (30%), whereas lesions were observed in the remaining seven patients after additional blunt placental disruption. The lesions were located most frequently on the cephalic region, and they grew in size during the observation period. Gestational age or amount of chorionic villus sampling tissue was not different between fetuses with or without lesions., Conclusion: Placental trauma results in embryoscopically demonstrable hemorrhagic lesions on the human embryo. Whereas some of these lesions may be of no consequence, others may lead to permanent changes. If similar lesions occur in deeper tissues, they could cause disruptions in development and conceivably could be related to anomalies reported in infants born to women who have had chorionic villus sampling procedures. Embryoscopy affords the opportunity to study possible mechanisms involved in the occurrence of anomalies.