Increased nuchal translucency and short femur length as possible early signs of osteogenesis imperfecta type III

Vimercati, Antonella and Panzarino, Mariantonietta and Totaro, Ilaria and Chincoli, Annarosa and Selvaggi, Luigi (2013) Increased nuchal translucency and short femur length as possible early signs of osteogenesis imperfecta type III. Journal of prenatal medicine, 7 (1). pp. 5-8. ISSN 1971-3290

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Objective: this paper reports an association between an increased Nuchal Translucency (NT) and Osteogenesis Imperfecta (OI), a type of skeletal dysplasia. Measurement of fetal NT at 10-14 weeks of gestation is a sensitive and effective screening method for chromosomal abnormalities. Methods: a 35-year- old Caucasian woman in her fourth pregnancy was referred to our clinic for an ultrasound scan at 12 weeks of gestation, that confirmed increased Nuchal Translucency. Chorionic villi sampling was performed, showing a normal karyotype. The patient was evaluated by a team of experienced ultra sonographers for pregnancy follow-up at our Department, that is a tertiary center. Results: in our case the ultrasound scan at 12 week of gestation revealed only an increased NT (3 mm). Cytogenetic analysis on chorionic villi demonstrated a normal male karyotype. US follow-up, performed every 3-4 weeks, confirmed normal anthropometric parameters except for shortening of both femurs, but at 23 weeks an incorrect attitude of the feet was revealed. A clinical and radiographic diagnosis of OI type III was made only at birth, and through follow-up continuing to date. Discussion: NT screening was successful for chromosomal abnormalities at 11-14 weeks of gestation. An increased NT thickness is also associated with numerous fetal anomalies and genetic syndromes in a chromosomally normal fetus. In our case there were no sonographic signs of imperfect osteogenesis in the first trimester, although there was an increased NT with a normal karyotype. Conclusion: currently, in literature, there are not other cases of OI type III associated with an increased NT. Our report is the first to suggest an association between an increased nuchal translucency, short femur length and osteogenesis imperfecta type III.

Item Type: Article
Uncontrolled Keywords: Osteogenesis imperfecta, skeletal dysplasia, nuchal translucency, ultrasound scan
Subjects: 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 618 Altri rami della medicina; Ginecologia e ostetricia, Pediatria, Geriatria > 618.3 Malattie e complicazioni della gravidanza
Depositing User: Gianni Aiello
Date Deposited: 29 May 2013 13:12
Last Modified: 10 Apr 2014 08:36

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