Ruben Quintero

Stage-based outcomes of 682 consecutive cases of twin–twin transfusion syndrome treated with laser surgery: the USFetus experience

OBJECTIVEnWe sought to describe stage-specific perinatal outcomes after selective laser photocoagulation of communicating vessels (SLPCV) for twin-twin transfusion syndrome.nnnSTUDY DESIGNnPatients with twin-twin transfusion syndrome underwent SLPCV preferentially using sequential vs standard laser technique. Patient characteristics and outcome data were examined by Quintero stage.nnnRESULTSnOf 682 consecutive women studied, the Quintero stage distribution was: 114 stage I (17%), 177 stage II (26%), 328 stage III (48%), and 63 stage IV (9%). Perinatal survival of at least 1 twin did not differ according to stage (I-92%, II-93%, III-88%, IV-92%; P = .30). However, dual twin survival differed by stage (I-79%, II-76%, III-59%, IV-68%; P < .01), primarily because stage III pregnancies were associated with decreased donor twin survival (P < .01). Sequential SLPCV was associated with improved donor survival, independent of stage (odds ratio, 1.67; 95% confidence interval, 1.16-2.40; P < .01).nnnCONCLUSIONnStage-specific perinatal outcomes after laser therapy may assist physicians in patient counseling and in planning future studies.

The role of Doppler studies in predicting individual intrauterine fetal demise after laser therapy for twin–twin transfusion syndrome

To investigate the role of Doppler studies in predicting individual fetal demise in patients scheduled for selective laser photocoagulation of communicating vessels (SLPCV) for twin–twin transfusion syndrome (TTTS).

International fetal cardiac intervention registry: A worldwide collaborative description and preliminary outcomes

BACKGROUNDnInvasive fetal cardiac intervention (FCI) has been reported in single-institution series, promoting technical and physiologic success.nnnOBJECTIVESnThis study describes the creation of an international registry of cases presenting for FCI, intended to compile technical and outcome data from a multicenter cohort.nnnMETHODSnFor this initial analysis, the entire database of the International Fetal Cardiac Intervention Registry (IFCIR) was queried for details of diagnoses, procedures, and outcomes. Maternal-fetal dyads from January 2001 through June 2014 were included.nnnRESULTSnEighteen institutions submitted data by data harvest. Of 370 cases entered, 245 underwent FCI: 100 aortic valvuloplasties from a previous single-center report (excluded from additional reporting here), an additional 86 aortic and 16 pulmonary valvuloplasties, 37 atrial septal cases, and 6 unclassified cases. FCI did not appear to affect overall survival to hospital discharge. Among live-born infants with a fetal diagnosis of aortic stenosis/evolving hypoplastic left heart syndrome, more than twice as many were discharged with biventricular circulation after successful FCI versus those meeting institutional criteria but without any or successful FCI (42.8% vs. 19.4%, respectively). When fetal deaths were counted as treatment failures, the percentages were similar: biventricular circulation at discharge was 31.3% versus 18.5% for those discharged with univentricular palliation. Survival to discharge for live-born fetuses with atrial restriction was similar to that of those undergoing technically successful versus unsuccessful FCI (63.6% vs. 46.7%, respectively), although criteria for diagnosis were nonuniform.nnnCONCLUSIONSnWe describe the contents of the IFCIR and present post-natal data to suggest potential benefit toxa0fetalxa0therapy among pregnancies considered for possible intervention and support proposals for additional work.

Ultrasound assessment of venous blood flow before and after laser therapy: approach to understanding the pathophysiology of twin–twin transfusion syndrome

To estimate direction and volume of blood exchange between the donor twin and recipient twin by ultrasound assessment of blood flow in the umbilical vein before and after selective laser photocoagulation of communicating vessels (SLPCV) for twin–twin transfusion syndrome (TTTS).

Fetoscopic single-layer repair of open spina bifida using a cellulose patch: preliminary clinical experience.

Abstract Objective: To report our preliminary clinical experience in the antenatal correction of open spina bifida (OSB) using a fetoscopic approach and a simplified closure technique. Methods: Four fetuses with lumbar-sacral defects were operated in utero from 25 to 27 weeks. Surgeries were performed percutaneously under general anesthesia using three trocars and partial carbon dioxide insufflation. After dissection of the neural placode, the surrounding skin was closed over a cellulose patch using a single continuous stitch. Results: Surgical closure was successful in three of the four cases. All successful cases showed improvement of the hindbrain herniation and no neonatal neurosurgical repair was required in two cases. Delivery occurred between 31 and 33 weeks, and no fetal or neonatal deaths occurred. Ventriculoperitoneal shunting was not needed in two out of the 3 successful cases. Conclusions: Our preliminary experience suggests that definitive fetoscopic repair of OSB is feasible using our innovative surgical technique. A phase I trial for the fetoscopic correction of OSB with this technique is currently being conducted.

De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis

Megacystis–microcolon–intestinal hypoperistalsis syndrome (MMIHS) is characterized by prenatal-onset distended urinary bladder with functional intestinal obstruction, requiring extensive surgical intervention for survival. While it is believed to be an autosomal recessive disorder, most cases are sporadic. Through whole-exome sequencing in a child with MMIHS, we identified a de novo mutation, p.R178L, in the gene encoding the smooth muscle gamma-2 actin, ACTG2. We subsequently detected another de novo ACTG2 mutation, p.R178C, in an additional child with MMIHS. Actg2 transcripts were primarily found in murine urinary bladder and intestinal tissues. Structural analysis and functional experiments suggested that both ACTG2 mutants interfere with proper polymerization of ACTG2 into thin filaments, leading to impaired contractility of the smooth muscle. In conclusion, our study suggests a pathogenic mechanism for MMIHS by identifying causative ACTG2 mutations.

Management of twin-twin transfusion syndrome in pregnancies with iatrogenic detachment of membranes following therapeutic amniocentesis and the role of interim amniopatch

Detachment of membranes may occur after therapeutic amniocentesis for twin–twin transfusion syndrome (TTTS). Subsequent amniocenteses or endoscopic fetal therapy may be hindered or made altogether impossible by this complication. The purpose of this study was to describe our experience in the assessment and management of TTTS patients with iatrogenic detached membranes (IDM).

The quantitative lung index (QLI): a gestational age- independent sonographic predictor of fetal lung growth

OBJECTIVEnWe sought to develop a gestational age-independent sonographic parameter to characterize lung growth.nnnSTUDY DESIGNnReported descriptors of lung growth, including lung-to-head circumference (HC) ratio (LHR) and observed/expected LHR, were examined. A new index, the quantitative lung index (QLI) was derived using published data on HC and the area of the base of the right lung.nnnRESULTSnNeither the LHR nor the observed/expected LHR proved to be gestational age independent. Right lung growth can be expressed using the following formula: QLI = lung area/(HC/10)^2. The 50th percentile of the QLI remained constant at approximately 1.0 for the gestational age between 16-32 weeks. A small lung (<1st percentile) was defined as a QLI <0.6.nnnCONCLUSIONnFetal right lung growth can be adequately described using the QLI, independent of gestational age. Further studies are needed to assess the clinical accuracy of the QLI in characterizing fetal right lung growth.

Vascular limb occlusion in twin-twin transfusion syndrome (TTTS): Case series and literature review

OBJECTIVEnThe purpose of this study was to evaluate the phenomenon of vascular ischemic limb necrosis in twin-twin transfusion syndrome (TTTS).nnnSTUDY DESIGNnThis was a multicenter retrospective review of ischemic limb necrosis in patients with TTTS.nnnRESULTSnTwenty cases of fetal ischemic limb necrosis in association with TTTS were identified from 10 fetal medicine centers. The recipient was affected in 19 cases, and the lower limb was affected in 17 cases. The extent of the damage correlated with TTTS severity. Eighty percent of limb defects (16/20) clearly were unrelated to laser treatment (3 cases untreated, 7 cases after amnioreduction, 6 cases present at time of laser). The recipient was relatively polycythemic in 5 of 7 cases in which neonatal or fetal hemoglobin/hematocrit levels were available.nnnCONCLUSIONnIschemic limb necrosis is a rare complication of TTTS. The lesion is unrelated to therapy and may be the result of polycythemia, hypertension, and vasoconstriction.

Trocar-assisted selective laser photocoagulation of communicating vessels: A technique for the laser treatment of patients with twin–twin transfusion syndrome with inaccessible anterior placentas

Objective.u2003To describe a new technique, trocar-assisted selective laser photocoagulation of communicating vessels (TA-SLPCV), for patients with twin–twin transfusion syndrome (TTTS) with inaccessible anterior placentas. Materials and methods.u2003TA-SLPCV was performed through a single port in TTTS patients with an anterior placenta in whom the anastomoses were inaccessible with a standard technique (inaccessible anterior placentas). The anastomoses were first identified using a 25 or 70-degree rigid diagnostic endoscope. The anastomoses were then targeted with a zero-degree operating rigid endoscope by withdrawing it within the sheath a short distance and using the sheath to gently indent the placenta (trocar assistance). The technique was compared with patients with a posterior placenta treated with a standard technique. Surgeries were approved by the Institutional Review Boards and all patients signed informed consent. Results.u2003Of 267 patients who met the criteria for the study, 143 (53.6%) had an anterior placenta and 124 (46.4%) had a posterior placenta. Perinatal survival (88.1% vs. 91.9%, pu2009=u20090.3), residual patent anastomoses (4.3% vs. 2.7%, pu2009=u20090.6), or premature rupture of membranes within 3 weeks of the procedure (7.7% vs. 4%, pu2009=u20090.2), was no different relative to placental location (anterior vs. posterior, respectively). Operating time was significantly different between the groups (median 46u2009min vs. 36u2009min, pu2009<u20090.05). Conclusion.u2003Trocar assistance allows treatment of TTTS patients with inaccessible anterior placentas using a single port and a rigid endoscope with similar results as patients with a posterior placenta and a standard technique.