Book contents
- Frontmatter
- Contents
- List of contributors
- Preface
- Acknowledgment
- Section 1 Head and neck
- Section 2 Thoracic imaging
- Section 3 Cardiac imaging
- Section 4 Vascular and interventional
- Section 5 Gastrointestinal imaging
- Section 6 Urinary imaging
- Section 7 Endocrine - reproductive imaging
- Section 8 Fetal imaging
- Case 75 Fetal lymphatic malformation
- Case 76 Anal atresia with urorectal fistula
- Case 77 Cystic dysplasia of the kidneys
- Case 78 Gastroschisis
- Case 79 Fetal osteogenesis imperfecta
- Case 80 Congenital diaphragmatic hernia
- Case 81 Hydrops fetalis
- Section 9 Musculoskeletal imaging
- Index
- References
Case 79 - Fetal osteogenesis imperfecta
from Section 8 - Fetal imaging
Published online by Cambridge University Press: 05 June 2014
- Frontmatter
- Contents
- List of contributors
- Preface
- Acknowledgment
- Section 1 Head and neck
- Section 2 Thoracic imaging
- Section 3 Cardiac imaging
- Section 4 Vascular and interventional
- Section 5 Gastrointestinal imaging
- Section 6 Urinary imaging
- Section 7 Endocrine - reproductive imaging
- Section 8 Fetal imaging
- Case 75 Fetal lymphatic malformation
- Case 76 Anal atresia with urorectal fistula
- Case 77 Cystic dysplasia of the kidneys
- Case 78 Gastroschisis
- Case 79 Fetal osteogenesis imperfecta
- Case 80 Congenital diaphragmatic hernia
- Case 81 Hydrops fetalis
- Section 9 Musculoskeletal imaging
- Index
- References
Summary
Imaging description
A 37-year-old G2P1 white female presented for a fetal anatomic survey at 19 weeks 3 days gestational age. She had been previously seen by the Genetic Counseling Service to discuss prenatal diagnosis options due to maternal age. She chose to proceed with sequential screening by nuchal translucency and first and second trimester biochemical analysis. Results of the sequential screening were negative.
Fetal ultrasound images showed an abnormal triangular-shaped calvarium (Fig. 79.1a) which demonstrated deformity on compression by the ultrasound probe (Fig. 79.1b). The fetal chest was abnormally shaped, with irregular contour of the ribs (Fig. 79.1c). The fetal humeri and femora were extremely short, with the length corresponding to a 13- to 14-week fetus (Fig. 79.1d, e). The head circumference, by comparison, reflected the true gestational age of 19 weeks 3 days (images not shown). The findings were strongly suggestive of osteogenesis imperfecta (OI).
After genetic counseling the couple decided to undergo termination of the pregnancy. Tissue was sent for mutation analysis of the COL1A1 and COL1A2 genes.
- Type
- Chapter
- Information
- Pearls and Pitfalls in Pediatric ImagingVariants and Other Difficult Diagnoses, pp. 326 - 328Publisher: Cambridge University PressPrint publication year: 2014