Can transvaginal fetal biometry be considered a useful tool for early detection of skeletal dysplasias in high-risk patients?

Authors

  • Dr S. Gabrielli,

    Corresponding author
    1. Department of Gynecology, Obstetrics and Prenatal Medicine, Bologna University School of Medicine, Bologna, Italy
    • Clinica Ostetrica, Ginecologica e Medicina dell'Età Prenatale, Università degli Studi di Bologna, Policlinico Sant'Orsola, Via Massarenti, 13, 40138, Bologna, Italy
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  • P. Falco,

    1. Department of Gynecology, Obstetrics and Prenatal Medicine, Bologna University School of Medicine, Bologna, Italy
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  • G. Pilu,

    1. Department of Gynecology, Obstetrics and Prenatal Medicine, Bologna University School of Medicine, Bologna, Italy
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  • A. Perolo,

    1. Department of Gynecology, Obstetrics and Prenatal Medicine, Bologna University School of Medicine, Bologna, Italy
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  • V. Milano,

    1. Department of Gynecology, Obstetrics and Prenatal Medicine, Bologna University School of Medicine, Bologna, Italy
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  • L. Bovicelli

    1. Department of Gynecology, Obstetrics and Prenatal Medicine, Bologna University School of Medicine, Bologna, Italy
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Abstract

Objective

To evaluate the possibility of an early diagnosis of skeletal dysplasias in high-risk patients.

Methods

A total of 149 consecutive, uncomplicated singleton pregnancies at 9–13 weeks' amenorrhea, with certain menstrual history and regular cycles, were investigated with transvaginal ultrasound to establish the relationship between femur length and menstrual age, biparietal diameter and crown-rump length, using a polynomial regression model. A further eight patients with previous skeletal dysplasias in a total of 13 pregnancies were evaluated with serial examinations every 2 weeks from 10–11 weeks.

Results

A significant correlation between femur length and crown-rump length and biparietal diameter was found, whereas none was observed between femur length and menstrual age. Of the five cases with skeletal dysplasias, only two (one with recurrent osteogenesis imperfecta and one with recurrent achondrogenesis) were diagnosed in the first trimester.

Conclusions

An early evaluation of fetal morphology in conjunction with the use of biometric charts of femur length against crown-rump length and femur length against biparietal diameter may be crucial for early diagnosis of severe skeletal dysplasias. By contrast, in less severe cases, biometric evaluation appears to be of no value for diagnosis. Copyright © 1999 International Society of Ultrasound in Obstetrics and Gynecology

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