Prenatal Diagnosis of a Fetus with Ring Chromosomal 15 by Two- and Three-Dimensional Ultrasonography
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. Comprehen...
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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | Case Reports in Obstetrics and Gynecology |
| Online Access: | http://dx.doi.org/10.1155/2014/495702 |
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| author | Ingrid Schwach Werneck Britto Sandra Regina Silva Herbest Giselle Darahem Tedesco Carolina Leite Drummond Luiz Claudio Silva Bussamra Edward Araujo Júnior Rodrigo Ruano Simone Hernandez Ruano José Mendes Aldrighi |
| author_facet | Ingrid Schwach Werneck Britto Sandra Regina Silva Herbest Giselle Darahem Tedesco Carolina Leite Drummond Luiz Claudio Silva Bussamra Edward Araujo Júnior Rodrigo Ruano Simone Hernandez Ruano José Mendes Aldrighi |
| author_sort | Ingrid Schwach Werneck Britto |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-f7f9c8e426aa4c27bde987c19e28a55c |
| institution | Kabale University |
| issn | 2090-6684 2090-6692 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Obstetrics and Gynecology |
| spelling | doaj-art-f7f9c8e426aa4c27bde987c19e28a55c2025-02-03T01:26:16ZengWileyCase Reports in Obstetrics and Gynecology2090-66842090-66922014-01-01201410.1155/2014/495702495702Prenatal Diagnosis of a Fetus with Ring Chromosomal 15 by Two- and Three-Dimensional UltrasonographyIngrid Schwach Werneck Britto0Sandra Regina Silva Herbest1Giselle Darahem Tedesco2Carolina Leite Drummond3Luiz Claudio Silva Bussamra4Edward Araujo Júnior5Rodrigo Ruano6Simone Hernandez Ruano7José Mendes Aldrighi8Department of Obstetrics and Gynecology, Medical College Science of Santa Casa of São Paulo (FCMSCSP), 01221-020 São Paulo, SP, BrazilDepartment of Obstetrics and Gynecology, Medical College Science of Santa Casa of São Paulo (FCMSCSP), 01221-020 São Paulo, SP, BrazilDepartment of Obstetrics and Gynecology, Medical College Science of Santa Casa of São Paulo (FCMSCSP), 01221-020 São Paulo, SP, BrazilDepartment of Obstetrics and Gynecology, Medical College Science of Santa Casa of São Paulo (FCMSCSP), 01221-020 São Paulo, SP, BrazilDepartment of Obstetrics and Gynecology, Medical College Science of Santa Casa of São Paulo (FCMSCSP), 01221-020 São Paulo, SP, BrazilDepartment of Obstetrics, Federal University of São Paulo (UNIFESP), Rua Carlos Weber 956, Apartamento 113 Visage, 05303-000 São Paulo, SP, BrazilDepartment of Gynecology and Obstetrics, Baylor College of Medicine and Texas Children’s Hospital, Houston, TX, USADepartment of Genetics, Federal University of São Paulo (UNIFESP), 77030 São Paulo, SP, BrazilDepartment of Obstetrics and Gynecology, Medical College Science of Santa Casa of São Paulo (FCMSCSP), 01221-020 São Paulo, SP, BrazilWe 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.http://dx.doi.org/10.1155/2014/495702 |
| spellingShingle | Ingrid Schwach Werneck Britto Sandra Regina Silva Herbest Giselle Darahem Tedesco Carolina Leite Drummond Luiz Claudio Silva Bussamra Edward Araujo Júnior Rodrigo Ruano Simone Hernandez Ruano José Mendes Aldrighi Prenatal Diagnosis of a Fetus with Ring Chromosomal 15 by Two- and Three-Dimensional Ultrasonography Case Reports in Obstetrics and Gynecology |
| title | Prenatal Diagnosis of a Fetus with Ring Chromosomal 15 by Two- and Three-Dimensional Ultrasonography |
| title_full | Prenatal Diagnosis of a Fetus with Ring Chromosomal 15 by Two- and Three-Dimensional Ultrasonography |
| title_fullStr | Prenatal Diagnosis of a Fetus with Ring Chromosomal 15 by Two- and Three-Dimensional Ultrasonography |
| title_full_unstemmed | Prenatal Diagnosis of a Fetus with Ring Chromosomal 15 by Two- and Three-Dimensional Ultrasonography |
| title_short | Prenatal Diagnosis of a Fetus with Ring Chromosomal 15 by Two- and Three-Dimensional Ultrasonography |
| title_sort | prenatal diagnosis of a fetus with ring chromosomal 15 by two and three dimensional ultrasonography |
| url | http://dx.doi.org/10.1155/2014/495702 |
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