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Related Experiment Videos

Chorionic villus sampling: a distinctive teratogenic effect on fingers?

Caroline M Golden1, Louise M Ryan, Lewis B Holmes

  • 1Genetics and Teratology Unit, MassGeneral Hospital for Children, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02114-2696, USA.

Birth Defects Research. Part A, Clinical and Molecular Teratology
|November 25, 2003
PubMed
Summary

Chorionic villus sampling (CVS) is linked to increased limb defects in infants, particularly affecting one or two fingers. These findings suggest a distinct pattern of limb reduction associated with CVS exposure.

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Area of Science:

  • Obstetrics and Gynecology
  • Pediatric Medicine
  • Teratology

Background:

  • Studies suggest a link between chorionic villus sampling (CVS) and major limb malformations, especially terminal transverse limb defects.
  • Vascular disruption is a proposed mechanism, potentially affecting middle fingers more than all five.

Purpose of the Study:

  • To assess if CVS is associated with an increased frequency of defects involving one or two fingers.
  • To compare the frequency of finger defects in CVS-exposed infants versus unexposed controls.

Main Methods:

  • Compared limb-reduction defects in 20,236 CVS-exposed children with 161,252 unexposed infants.
  • Included defects with constriction rings and tissue loss; excluded children with genetic disorders.

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Main Results:

  • CVS-exposed infants showed significantly higher rates of limb deficiencies.
  • Increased frequency of any finger deficiency (p < .001), absence/hypoplasia of two fingers (p < .001), and all five fingers (p = .015).
  • Absence of the distal third finger was a distinctive defect in CVS-exposed infants.

Conclusions:

  • Deficiencies in one or two fingers, and terminal transverse limb defects, are more common in CVS-exposed infants.
  • These defects, including "amniotic band deformities," are significantly more frequent than in unexposed infants.
  • Distal third finger absence with tapering and stiff joints appears to be a specific indicator of CVS exposure.