Volume 44, Issue 6 pp. 856-864
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Limb anomalies following chorionic villus sampling: A registry based case-control study

Pierpaolo Mastroiacovo

Corresponding Author

Pierpaolo Mastroiacovo

Birth Defect Unit of the Department of Pediatrics, Catholic University, Rome, Italy

ICARO–ASM, Rome, Italy

Birth Defects Unit, Clinica Pediatrica Policlinico Universitario A. Gemelli, Largo A. Gemelli, 8, 00168 Roma, ITALYSearch for more papers by this author
Lorenzo Davide Botto

Lorenzo Davide Botto

Birth Defect Unit of the Department of Pediatrics, Catholic University, Rome, Italy

ICARO–ASM, Rome, Italy

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Denise Pontes Cavalcanti

Denise Pontes Cavalcanti

Fellow of CNPq, Brazil

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Faustina Lalatta

Faustina Lalatta

Cytogenetic Lab, ICP, Milan, Italy

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Angelo Selicorni

Angelo Selicorni

Cytogenetic Lab, ICP, Milan, Italy

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Alberto Eugenio Tozzi

Alberto Eugenio Tozzi

ICARO–ASM, Rome, Italy

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Dante Baronciani

Dante Baronciani

Division of Neonatology, Hospital of Lecco, Italy

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Anna Chiara Cigolotti

Anna Chiara Cigolotti

Department of Pediatrics, University of Torino at Novara, Italy

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Sergio Giordano

Sergio Giordano

Division of Pediatrics, Hospital of Verbania, Italy

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Fabio Petroni

Fabio Petroni

Section of Neonatology, Hospital of Desio, Italy

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Francesco Puppin

Francesco Puppin

Division of Pediatrics, Hospital of Pordenone, Italy

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First published: 1 December 1992
Citations: 47

Abstract

Using data from the Italian Multicentric Birth Defect Registry a case–control study was performed to verify if chorionic villus sampling (CVS) was associated with transverse limb defects (TLD), with or without features of oro–mandibular–limb hypogenesis complex (OMLHC), in the exposed offspring. The results show that the risk of TLD and OMLHC is increased following CVS, and is particularly high for CVS performed early in pregnancy, i.e., under 70 days of gestational age.

These results, together with a review of other epidemiologic studies, biological data and clinical reports, strongly suggest a causative role of CVS as a risk factor for TLD and indicate that at this stage CVS before 70 days of gestational age should be discouraged as an option for prenatal diagnosis and that all patients wishing to undergo CVS should be informed about the possible risk of the procedure. © 1992 Wiley-Liss, Inc.

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