Open fetal surgery for myelomeningocele repair in France.

INTRODUCTION: Open fetal myelomeningocele (MMC) surgery is currently the standard of care option for prenatal MMC repair. We described the population referred to our center and reviewed outcome after open fetal MMC repair. MATERIAL AND METHODS: All patients referred to our center for MMC were reviewed from July 2014 to June 2020. For all the patients who underwent fetal MMC repair, surgical details, maternal characteristics and data from the neonatal to the three-years-old evaluations were collected. RESULTS: Among the 126 patients referred to our center, 49.2% were eligible and 27.4% (n = 17) of them underwent fetal MMC repair. Average gestational age at fetal surgery was 24+6 weeks. There was no case of fetal complication and the only maternal complication was one case of transfusion. We recorded 70% of premature rupture of membranes and 47% of premature labor. Average gestational age at delivery was 34+2 weeks and no patient delivered before 30 weeks. There was no case of uterine scar dehiscence or maternal complication during cesarean section. After birth, 59% of the children had a hindbrain herniation reversal. At 1-year-old, 42% were assigned a functional level of one or more better than expected according to the prenatal anatomic level and 25% required a ventriculoperitoneal shunt. At 3-year-old, all the children attended school and 75% were able to walk with orthotics or independently. CONCLUSION: Open fetal surgery enables anatomical repair of the MMC lesion, a potential benefit on cerebral anomalies and motor function, with a low rate of perinatal and maternal complications.

Two-Port Fetoscopic Repair of Myelomeningocele in Fetal Lambs.

OBJECTIVE: The aim of this study was to assess the feasibility and the effectiveness of a fetoscopic myelomeningocele (MMC) repair with a running single suture using a 2-port access in the sheep model. METHODS: Eighteen fetuses underwent surgical creation of a MMC defect at day 75. Fetuses were then randomized into 3 groups. Four fetuses remained untreated (control group). In the other 14 fetuses, a prenatal repair was performed at day 90: 7 fetuses had an open repair (oMMC), and 7 fetuses had a fetoscopic repair (fMMC) using a single-layer running suture through a 2-port access. Lambs were sacrificed at term, and histological examinations were performed. RESULTS: Hindbrain herniation was observed in all live lambs in the control group. A complete closure of the defect was achieved in all the lambs of the fMMC group. A complete healing of the defect and no hindbrain herniation were observed in all live lambs of the oMMC and fMMC groups. The durations of surgeries were not statistically different between the oMMC and the fMMC groups (60 vs. 53 min, p = 0.40), as was the risk of fetal loss (fMMC: 1/7, oMMC: 3/7, p = 0.56). DISCUSSION: Fetoscopic repair of MMC can be performed using a single-layer running suture through a 2-port access and may be promising to reduce the risk of premature rupture of membranes.

Prenatal Imaging Findings of Pontine Tegmental Cap Dysplasia: Report of Four Cases.

OBJECTIVES: To describe the prenatal imaging findings in pontine tegmental cap dysplasia (PTCD), a rare congenital malformation of the hindbrain so far reported postnatally only and characterized by a typical appearance of the pons with malformations of the vermis and the cerebellar peduncles. METHODS: This retrospective multicenter study retrieved 4 cases of PTCD over a 10-year period. Prenatal ultrasonography and fetal magnetic resonance imaging (MRI) findings were reviewed and compared to postnatal or postmortem data. RESULTS: In all cases, the parents were referred between 22 and 27 weeks of gestation for characterization of a small cerebellar diameter <3rd centile. The prenatal diagnosis of PTCD was suspected in 1/4 cases, while in 3/4 cases the suggested prenatal diagnosis was pontocerebellar hypoplasia. In all cases, PTCD was characterized by ventral pontine hypoplasia with absence of bulging of the pons and by the tegmental cap protruding into the fourth ventricle on prenatal MRI. Parents opted for termination of pregnancy in 1 case. In the 3 other cases, the children presented with global developmental delay and multiple cranial nerve impairment. CONCLUSION: PTCD is a differential diagnosis of pontocerebellar hypoplasia and should be discussed on prenatal MRI in the presence of the tegmental cap protruding into the fourth ventricle.

Fetoscopic patch coverage of experimental myelomenigocele using a two-port access in fetal sheep.

PURPOSE: This study aims to assess the feasibility and the effectiveness of a fetoscopic myelomeningocele (MMC) coverage using a sealed inert patch through a two-port access, in the sheep model. METHODS: Forty-four fetuses underwent surgical creation of a MMC defect at day 75 and were divided into four groups according to the MMC repair technique, performed at day 90. Group 1 remained untreated. Group 2 had an open surgery using suture of the defect. Groups 3 and 4 underwent defect coverage using a Gore®-polytetrafluoroethylene patch secured with surgical adhesive (Bioglue®), with an open approach (group 3) and a fetoscopic one (group 4). Lambs were killed at term, and histological examinations were performed. RESULTS: Fetoscopic patch coverage was achieved in all the lambs of group 4. All the fetuses of group 2 had a complete closure of the defect whereas only 38% in group 3 and 14% in group 4. Fetal loss rate seems to be lower in group 4 than in groups 2 and 3. CONCLUSION: Fetoscopic coverage of MMC defect can be performed using a sealed patch through a two-port access, but the patch and glue correction may not be the ideal technique to repair fetal MMC.

Prenatal Sacral Anomalies Leading to the Detection of Associated Spinal Cord Malformations.

INTRODUCTION: Systematic analysis of the spine is recommended as part of the basic sonographic examination. The aim of our study is to assess the proportion of spinal cord anomalies diagnosed following detection of a sacral anomaly. MATERIAL AND METHODS: We analyzed retrospectively collected data in a prenatal tertiary center during a 9-year period. Patients were referred for second-line ultrasound in the context of diabetes mellitus or following detection of pelvic or lower spine anomalies. We included all cases of sacral anomalies with available postnatal or postmortem outcomes (imaging and/or pathologic data) and excluded all cases of open dysraphism (myelomeningocele). RESULTS: Nineteen patients were included. The mean gestational age was 28 weeks (21-39). Sacral anomalies included 2 cases of complete agenesis, 12 cases of partial agenesis, 4 segmentation anomalies, and 1 case of abnormal angulation of the sacral spine. Fourteen associated spinal cord malformations included 8 tethered spinal cords, 5 truncated spinal cords, and 1 lipoma of the filum terminale. All anomalies were confirmed by postnatal or postmortem examinations. CONCLUSIONS: Sacral anomalies detected during basic sonographic examination represent an important warning sign for associated spinal cord anomalies, with possible poor neonatal outcome.

Hormonal prevention of breast cancer.

Breast cancer prevention can be provided by using SERMs or aromatase inhibitors depending on the ovarian status, with a global risk reduction of 50 to 60%. Prophylactic annexectomy offered to reduce ovarian risk in BRCA mutation carriers also lowers breast cancer risk by 50%. Main side effects include deep vein thrombosis for SERMs, hot flushes and joint pain (although less frequently than initially suspected) with aromatase inhibitors. Other strategies based on progesterone, insulin or prolactin signaling modulation may be offered in the future. Criteria for candidate selection remain to be established.