Prenatal repair of gastroschisis using partial carbon dioxide insufflation fetoscopy: lessons learned.

We report the long-term outcomes of a case of prenatal gastroschisis repair using a fully percutaneous fetoscopic approach with partial carbon dioxide insufflation. Surgery was performed as an experimental procedure before the scheduled elective birth. The fetal intestines were successfully returned to the abdominal cavity without any fetal or maternal complications.

Historical Clinical Outcomes of Children with Myelomeningocele Meeting the Criteria for Fetal Surgery: A Retrospective Cohort Survey of Brazilian Patients.

Objective:  To analyze the historical clinical outcomes of children with myelomeningocele (MMC) meeting the criteria for fetal surgery, but who underwent postnatal primary repair.

Methods:  Data from children undergoing postnatal MMC repair between January 1995 and January 2015 were collected from the Neurosurgery Outpatient Clinic's medical records. Children were included if they had ≥ 1 year of postoperative follow-up and met the criteria for fetal surgery.

Congenital High Airway Obstruction Syndrome (CHAOS): Virtual Navigation in the Fetal Airways After Intrauterine Endoscopic Treatment.

Background: Congenital high airway obstruction syndrome (CHAOS) involves the partial or complete obstruction of the fetal upper airways, usually caused by atresia or stenosis of the larynx or trachea. The obstruction of bronchial tree leads to lung distension, diaphragmatic eversion, and cardiac dysfunction, which can result in fetal death.

Case: A primigravid 19-year-old was diagnosed with CHAOS at 19 weeks gestation.

Neoskin development in the fetus with the use of a three-layer graft: an animal model for in utero closure of large skin defects.

Objective: To assess the ability of a three-layer graft in the closuse of large fetal skin defects.

Methods: Ovine fetuses underwent a large (4 × 3 cm) full-thickness skin defect over the lumbar region at 105 days' gestation (term = 140 days). A bilaminar artificial skin was placed over a cellulose interface to cover the defect (3-layer graft).

Does the time between collecting and processing umbilical cord blood samples affect the quality of the sample?

Objective: To assess the association between the time from umbilical cord blood collection until processing and the quality of the sample.

Methods: Umbilical cord blood samples collected during the third stage of labor were placed in temperature-controlled boxes for the transport of biological material and sent to an umbilical cord blood bank, where the number of nucleated cells, viable cells and CD34+ cells were counted, and samples were additionally tested for contamination at the following time intervals: up to 24 hours, up to 48 hours and up to 72 hours following sampling. Data were analyzed using the multivariate analysis of variance (MANOVA) and compared using McNemar's χ2 test.

Modification of the gasless fetoscopy technique for the treatment of large myelomeningocele: a study in sheep.

Objective: To change the gasless fetoscopy technique in order to reduce the diameter of entry orifices in the myometrium.

Methods: Seven pregnant ewes were submitted to fetoscopy for repairing a large skin defect measuring 4.0 × 3.

Methylenetetrahydrofolate reductase gene polymorphisms and their association with trisomy 21.

Objectives: To verify whether the frequencies of 5,10-methylenotetrahydrofolate reductase (MTHFR) polymorphisms at positions 677 and 1298 are higher in women with children affected by trisomy 21 than in those with chromosomally normal offspring.

Methods: A case-control study was carried out with 70 women whose children had trisomy 21 and 88 controls whose children were chromosomally normal. The frequencies of polymorphisms of points C677T and A1298C of MTHFR gene coding were studied in these two groups.

Laser for the treatment of twin to twin transfusion syndrome.

Purpose: To report the initial experience in our country with a new technique for twin to twin transfusion syndrome (TTTS) treatment, using laser to coagulate the placental vessels responsible for the twin transfusion during gestation.

Methods: Prospective study of eight cases diagnosed with TTTS evaluated in our service from january 2001 to june 2005. Through percutaneous introduction of a 2,0mm diameter fetoscope in the uterine cavity, placental surface vessels where directly visualized.

[Mutations in the methylene-tetrahydrofolate reductase gene and Down syndrome].

Down syndrome (DS) is a complex genetic and metabolic disorder attributed to the presence of three copies of chromosome 21. The extra chromosome derives from the mother in 93% of cases and is due to abnormal chromosome segregation during meiosis (nondisjunction). Except for advanced age at conception, maternal risk factors for meiotic nondisjunction are not well established.