The focus of this project is to improve the diagnosis and treatment of fetal disease. Focus is placed on the prenatal diagnosis of congenital anomalies with non-invasive methods (e.g., high resolution ultrasound and color Doppler flow mapping) and invasive methods. The Branch pioneered the utilization of thin-gauge endoscopy in the diagnosis of fetal congenital anomalies and endoscopic fetal surgery for the treatment of disorders of multiple gestation ( Twin Reversal Arterial Perfusion Sequence; TRAP) and fetal obstructive uropathy. This year the Branch reported its experience in the utilization of percutaneous umbilical cord ligation in the management of monochorionic multiple gestations with complications such as the """"""""twin to twin transfusion syndrome"""""""" and TRAP sequence. Fifteen patients were referred to evaluation and possible treatment. Two were excluded because of misdiagnosis. Of the remaining patients there were 10 with TRAP sequence, one discordant twin with acrania and 2 cases with twin to twin syndrome with a hydropic twin. All cases were evaluated at Hutzel Hospital /Wayne State University where they were referred for treatment. Umbilical cord ligation was performed with a combined endoscopic and sonographic approach in 11 of 13 cases ( 84 % of cases). An average of 8 weeks was gained after the procedure. Seven of the 11 patients undergoing cord ligation had a living child. Endoscopic devascularization of a large chorioangioma of the placenta was also accomplished endoscopically for the first time. Chorioangiomas are hamartomas which occur in 1 % of placentas. Large chorioangiomas have been associated with severe complications often related to a high output fetal cardiac failure . These complications include polyhydramnios, non-immune hydrops, cardiomegaly, growth retardation, preterm labor and fetal death ( 16 %). Maternal complications include toxemia, abruption placenta and fetal-maternal transfusion. A patient with a large chorioangioma and severe cardiac failure was referred to Hutzel Hospital/Wayne State University at 24 weeks gestation. The fetus was critically ill with signs of impeding fetal death (i.e. reversal of flow in the ductus venosus). Endoscopic ligation of the vessel was accomplished successfully but the fetus died in the third post-operative day. This case illustrates the feasibility of performing this surgical procedure with minimally invasive surgery and opens the possibility that early identification and treatment before fetal cardiac failure may be life-saving.

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Intramural Research (Z01)
Project #
1Z01HD002401-04
Application #
2575745
Study Section
Physical Biochemistry Study Section (PB)
Project Start
Project End
Budget Start
Budget End
Support Year
4
Fiscal Year
1996
Total Cost
Indirect Cost
City
State
Country
United States
Zip Code
Korzeniewski, Steven J; Grigorescu, Violanda; Kleyn, Mary et al. (2013) Transient hypothyroidism at 3-year follow-up among cases of congenital hypothyroidism detected by newborn screening. J Pediatr 162:177-82
Gotsch, Francesca; Romero, Roberto; Espinoza, Jimmy et al. (2010) Prenatal diagnosis of truncus arteriosus using multiplanar display in 4D ultrasonography. J Matern Fetal Neonatal Med 23:297-307
Kusanovic, Juan Pedro; Romero, Roberto; Gotsch, Francesca et al. (2009) Discordant placental echogenicity: a novel sign of impaired placental perfusion in twin-twin transfusion syndrome? J Matern Fetal Neonatal Med :1-4
Lampl, Michelle; Kusanovic, Juan Pedro; Erez, Offer et al. (2009) Growth perturbations in a phenotype with rapid fetal growth preceding preterm labor and term birth. Am J Hum Biol 21:782-92
Mittal, P; Hassan, S S; Espinoza, J et al. (2008) The effect of gestational age and labor on placental growth hormone in amniotic fluid. Growth Horm IGF Res 18:174-9
Than, Nandor Gabor; Abdul Rahman, Omar; Magenheim, Rita et al. (2008) Placental protein 13 (galectin-13) has decreased placental expression but increased shedding and maternal serum concentrations in patients presenting with preterm pre-eclampsia and HELLP syndrome. Virchows Arch 453:387-400
Lee, W; Deter, R L; Sameera, S et al. (2008) Individualized growth assessment of fetal thigh circumference using three-dimensional ultrasonography. Ultrasound Obstet Gynecol 31:520-8
Kusanovic, Juan Pedro; Romero, Roberto; Espinoza, Jimmy et al. (2008) Twin-to-twin transfusion syndrome: an antiangiogenic state? Am J Obstet Gynecol 198:382.e1-8
Chaiworapongsa, Tinnakorn; Espinoza, Jimmy; Gotsch, Francesca et al. (2008) The maternal plasma soluble vascular endothelial growth factor receptor-1 concentration is elevated in SGA and the magnitude of the increase relates to Doppler abnormalities in the maternal and fetal circulation. J Matern Fetal Neonatal Med 21:25-40
Espinoza, J; Romero, R; Kusanovic, J P et al. (2008) Standardized views of the fetal heart using four-dimensional sonographic and tomographic imaging. Ultrasound Obstet Gynecol 31:233-42

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