NAFTNet supports several research projects in the field of fetal medine. Below are studies that are currently active. NAFTNet endorses these projects, but the conduct of the research is the responsibility of the individual investigators.
To obtain more information regarding these research projects, or to contact the principal investigator, you need to become a member.
Gastroschisis is the most common congenital abdominal wall defect in which the intestines herniate outside the fetus into the amniotic fluid. Gastroschisis is diagnosed by prenatal ultrasound at 18-20 weeks gestation. Subsets of gastroschisis patients have complicated courses due to damage or loss of intestine. This may be due to exposure of the herniated intestines to the caustic effects of amniotic fluid or the narrowing of the abdominal wall defect constricting the intestinal blood supply. Additionally, gastroschisis patients have an increased risk of intrauterine fetal demise (stillbirth).
As the best evidence available does not adequately answer the question of optimal gestational age of delivery in patients with gastroschisis, the objective of this comparative effectiveness study is to investigate the hypothesis that delivery at 35 0/7 - 35 6/7 weeks in stable patients with gastroschisis is superior to observation and expectant management with a goal of delivery at 38 0/7 - 38 6/7 weeks. To test this hypothesis, we will complete a randomized, prospective, multi-institutional trial. Patients may be enrolled in the study any time prior to 33 weeks and will be randomized at 33 weeks to either delivery at 35 weeks or observation with a goal of 38 weeks. The primary composite outcome will include intrauterine fetal demise, neonatal death prior to discharge, respiratory morbidity, and gastrointestinal morbidity. Maternal, fetal, and neonatal secondary outcomes will also be investigated. This study has the potential to finally determine the optimal treatment for babies with gastroschisis and the mothers who deliver them. Click for further information.
Our primary research question is: can serial amnioinfusions reliably lead to postnatal survival and successful dialysis in fetuses with a confirmed diagnosis of Early Pregnancy Renal Anhydramnios (EPRA)?
The goal of this trial is to evaluate the safety, feasibility and efficacy of serial amnioinfusions, a novel fetal therapy for early pregnancy renal anhydramios (EPRA). EPRA occurs in more than 1 in 2000 pregnancies and affects 1500 families in the U.S annually. EPRA has previously been considered universally fatal due to its associated pulmonary hypoplasia and neonatal respiratory failure. More recently, preliminary data from case reports have demonstrated an association between serial amnioinfusion therapy and short-term postnatal survival in EPRA fetuses, with excellent respiratory function in the neonatal period. Furthermore, long-term survival has been observed in a few cases, largely due to advances in neonatal dialysis and the advent of safe living donor kidney transplantation in toddlers. Serial amnioinfusions for the management of EPRA have been implemented in clinical practice, but no systematic and prospective study evaluating this treatment has occurred. Therefore, there is a lack of generalizable knowledge about the maternal/fetal safety, feasibility and short- and long-term clinical outcomes of this intervention. The RAFT trial consists of a multi-center, non-randomized prospective study to address the following aims: (1) To determine the maternal and fetal safety and feasibility of serial amnioinfusions for EPRA (2) To examine the short-term efficacy of serial amnioinfusions for EPRA and (3) To determine the long-term efficacy serial amnioinfusions for EPRA on survival and quality of life. A consortium of 8 advanced fetal centers will operate under a single institutional review board with one protocol that has strict inclusion and exclusion criteria. Each center has been selected based on long experience and expertise in advanced fetal therapy and neonatal dialysis. This pilot trial will also seek to elucidate the mechanism of RAFT by capturing radiologic and amniotic fluid biomarkers during therapy. Furthermore, it will permit the first prospective analysis of the in utero natural history of EPRA by rigorously tracking patients who do not terminate their EPRA pregnancy but do not wish to undergo serial amnioinfusions. The RAFT trial not only has the potential to improve our understanding of the effect of serial amnioinfusions on lung growth in EPRA but also on other fetal diseases that impair lung function. Furthermore, serial amnioinfusions in EPRA pregnancies and serial acquisition of amniotic fluid biomarkers along with assessment of radiologic biomarkers may shed new light on the mechanisms of normal lung development. Most importantly, this trial will provide crucial data to assist families in making decisions about fetal therapy for fetuses affected by EPRA. Click for further information.
Obstructive sleep apnea, central sleep apnea, and central hypoventilation are common among older infants and children with MMC and Chiari II malformations. This abnormal sleep physiology is multifactorial, related to the level of spinal defect, presence of congenital and acquired brainstem abnormalities, musculoskeletal factors, and pulmonary abnormalities. Fetal surgery to close the spinal defect is a major advance in MMC therapy therapy and is performed for >120 patients/year at the centers of the North American Fetal Therapy Network (NAFTNet). However, it is unknown whether fetal repair of MMC influences sleep physiology.
Primary hypothesis and research question: Our preliminary data suggest that sleep-disordered breathing (SDB) is ubiquitous among neonates with myelomeningocele (MMC). Our overarching hypothesis is that identification of SDB in the first weeks of life can facilitate early treatment and optimize long-term cognitive development. Our primary aim for the present proposal is to determine the prevalence and profile of SDB among neonates with fetal versus post-natal MMC repair in a large NAFTNet sample. We hypothesize that SDB is highly prevalent in neonates who underwent fetal MMC repair, as well as neonates who had post-natal MMC surgery.
1) For patients with MMC, neonatal sleep-wake patterns, as well as SDB, are predictive of neurodevelopmental outcomes at age 2 years. [Aim 2]
2) Severity of neonatal SDB predicts severity of persistent SDB at age 2 years. [Aim 3]
3) Persistent SDB at age 2-years is more common among neonates with post-natal MMC repair, and among those with fetal repair who require a ventriculo-peritoneal (VP) shunt, than among those with fetal repair who did not require a VP shunt. [Aim 3]
Myelomeningocele is estimated to occur in 1 per 1000 live births worldwide, with variation among populations based on genetic and environmental factors.1 The optimal mode of delivery for fetuses diagnosed with myelomeningocele, who did not undergo an in-utero repair, has been debated for the last four decades in the medical literature. All reports have been retrospective and demonstrated inconsistent results. We hypothesize that mode of delivery does not impact motor function in infants with prenatal diagnosis of myelomeningocele at 24 months of age.
Neonatal: Motor function level at earlier age, including 6, 12 and 18 months, the need for shunt placement, number of shunt infections, number of shunt malfunctions, length of initial hospital stay, rate of seizure disorder, ambulatory status (ambulation with assistive devices [orthotic braces, crutches], independent ambulation, not ambulatory), secondary neurosurgical operations (Chiari II decompression, shunt revision, repeat tethered cord release, intradural dermoid cyst removal)
Maternal: Composite outcome of postpartum hemorrhage, blood transfusion, endometritis, venous thromboembolism, hysterectomy, ICU admission, length of stay>4 days.
Aqueductal stenosis causes severe ventriculomegaly by non-communicating pressure hydrocephalus, but with otherwise preserved brain anatomy. We hypothesize that isolated aqueductal stenosis (AS) can be accurately diagnosed prenatally by use of ultrasound, MRI and maternal genetic and serologic testing in the mid trimester.
Congenital diaphragmatic hernia (CDH) occurs in approximately 1 in 2,500 live births and accounts for about 8% of all congenital anomalies. Among the patients with isolated CDH, morbidity and mortality depend predominantly on the severity of pulmonary hypoplasia and pulmonary arterial hypertension. Survival rates in neonates with isolated CDH have improved due to advances in neonatal respiratory management. Improvements in prenatal imaging, earlier prenatal diagnosis, and protocoled perinatal care have led to better patient selection for perinatal intervention including fetal tracheal occlusion and early ECMO initiation. The present NAFTNet study aims to standardize all these measurements in different centers in the United States that are part of this group, in order to better classify the fetuses according to prognosis. After standardizing the methods, a reproducibility study will be performed and, then, further evaluation will be performed to analyze the accuracy of these prenatal predictors. In order to evaluate those objectives, we aim to perform a retrospective multicenter NAFTNet study. The present study will contribute not only for the standardization and evaluation of the prenatal methods in different NAFTNet centers, but also to initiate a discussion about the standardization of the postnatal management for a future prospective study, before selecting candidates for fetal endoscopic tracheal occlusion.