| Autor: |
Britto IS; Department of Obstetrics and Gynecology, Medical College Science of Santa Casa of São Paulo (FCMSCSP), 01221-020 São Paulo, SP, Brazil., Regina Silva Herbest S; Department of Obstetrics and Gynecology, Medical College Science of Santa Casa of São Paulo (FCMSCSP), 01221-020 São Paulo, SP, Brazil., Tedesco GD; Department of Obstetrics and Gynecology, Medical College Science of Santa Casa of São Paulo (FCMSCSP), 01221-020 São Paulo, SP, Brazil., Drummond CL; Department of Obstetrics and Gynecology, Medical College Science of Santa Casa of São Paulo (FCMSCSP), 01221-020 São Paulo, SP, Brazil., Bussamra LC; Department of Obstetrics and Gynecology, Medical College Science of Santa Casa of São Paulo (FCMSCSP), 01221-020 São Paulo, SP, Brazil., Araujo Júnior E; Department of Obstetrics, Federal University of São Paulo (UNIFESP), Rua Carlos Weber 956, Apartamento 113 Visage, 05303-000 São Paulo, SP, Brazil., Ruano R; Department of Gynecology and Obstetrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA., Ruano SH; Department of Genetics, Federal University of São Paulo (UNIFESP), 77030 São Paulo, SP, Brazil., Aldrighi JM; Department of Obstetrics and Gynecology, Medical College Science of Santa Casa of São Paulo (FCMSCSP), 01221-020 São Paulo, SP, Brazil. |
| Abstrakt: |
We report on a prenatal diagnosis of ring chromosome 15 in a fetus with left congenital diaphragmatic hernia (CDH) and severe intrauterine growth restriction (IUGR). A 31-year-old woman, gravida 2 para 1, was referred because of increased nuchal translucency at gestational age of 13 weeks. Comprehensive fetal ultrasound examination was performed at 19 weeks revealing an early onset IUGR, left CDH with liver herniation, and hypoplastic nasal bone. Three-dimensional ultrasound (rendering mode) showed low set ears and depressed nasal bridge. Amniocentesis was performed with a result of a 46,XX,r(15) fetus after a cytogenetic study. A 1,430 g infant (less than third percentile) was born at 36 weeks. The infant presented with respiratory failure and died at 2 h of life. Postnatal karyotype from the umbilical cord confirmed the diagnosis of 15-ring chromosome. We described the main prenatal 2D- and 3D-ultrasound findings associated with ring chromosome 15. The interest in reporting the present case is that CDH can be associated with the diagnosis of 15-ring chromosome because the critical location of the normal diaphragm development is at chromosome 15q26.1-q26.2. |
