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Increased nuchal translucency in the first trimester as a sign of osteogenesis imperfecta

✍ Scribed by Viora, Elsa ;Sciarrone, Andrea ;Bastonero, Simona ;Errante, Giuseppe ;Campogrande, Mario ;Botta, Giovanni ;Franceschini, Piergiorgio

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 518 KB
Volume: 109
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.10332

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✦ Synopsis

Makrydimas and colleagues recently reported two cases of subcutaneous edema in the back of the fetal neck at 10-14 weeks associated with osteogenesis imperfecta [Makrydimas et al., 2001].

We report a very similar case we have observed at 13 and 16 weeks in a pregnancy without any family risk. A healthy primigravida 31-year-old Caucasian woman presented for first trimester screening at 13 weeks' gestation. Family history was unremarkable for skeletal dysplasias. An increased nuchal translucency was observed: the crown-rump length (CRL) was 72.3 mm and the nuchal translucency thickness was 3.8 mm (Fig. 1). The estimated risk for trisomy 21, calculated by a combination of maternal age and nuchal translucency thickness, was one in ten, so the parents

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