Chorionic villus sampling and transverse digital deficiencies: Evidence for anatomic and gestational-age specificity of the digital deficiencies in two studies

Lorenzo D. Botto, Richard S. Olney, Pierpaolo Mastroiacovo, Muin J. Khoury, Cynthia A. Moore, Celan J. Alo, Pamela Costa, Larry D. Edmonds, Timothy J. Flood, John A. Harris, Holly L. Howe, Carolyn L. Olsen, Susan R. Panny, Gary M. Shaw

Research output: Contribution to journalArticle

Abstract

Several but not all studies indicate that chorionic villus sampling (CVS) is associated with an increased risk for transverse limb deficiencies, including digital deficiencies. It has been suggested that variations in results regarding the transverse digital deficiencies (TDDs) may be due to the use of different classification criteria. We present the combined analysis of two case-control studies, the U.S. Multistate CVS (US) study and the Italian Multicentric Birth Defects (IPIMC) study, using two different definitions of TDDs. We compared the frequency of CVS exposure in control infants with that among those infants with any number of affected digits (any TDD), and those with all five digits of at least one limb affected (extensive TDDs). The estimated relative risk (RR) for any TDD following CVS was 10.6 (IPIMC) and 6.6 (US). For the extensive TDDs, the RR was 30.5 (IPIMC) and 10.7 (US). In both studies, extensive TDDs were less than 25% of all TDDs. Compared to all TDDs, extensive TDDs were more likely to occur after CVS performed earlier in the first trimester (before 10-11 weeks' gestation). These findings suggest a relationship between the timing of CVS and the severity of TDDs; indicate that using a restrictive definition of TDDs (all five digits affected) may limit the ability to evaluate the association between CVS and TDDs in populations in whom CVS is usually performed at or after 10 weeks' gestation; and highlight the necessity to consider gestational age in any evaluation of the relative risk for limb deficiencies associated with CVS.

Original languageEnglish (US)
Pages (from-to)173-178
Number of pages6
JournalAmerican journal of medical genetics
Volume62
Issue number2
DOIs
StatePublished - Mar 15 1996
Externally publishedYes

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Keywords

  • birth defect
  • case-control study
  • chorionic villus sampling
  • epidemiology
  • limb deficiency
  • malformation
  • prenatal diagnosis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Botto, L. D., Olney, R. S., Mastroiacovo, P., Khoury, M. J., Moore, C. A., Alo, C. J., Costa, P., Edmonds, L. D., Flood, T. J., Harris, J. A., Howe, H. L., Olsen, C. L., Panny, S. R., & Shaw, G. M. (1996). Chorionic villus sampling and transverse digital deficiencies: Evidence for anatomic and gestational-age specificity of the digital deficiencies in two studies. American journal of medical genetics, 62(2), 173-178. https://doi.org/10.1002/(SICI)1096-8628(19960315)62:2<173::AID-AJMG11>3.0.CO;2-L