Limb abnormalities and chorionic villus sampling

Mahoney, MauriceJ.; Jackson, Laird; Wapner, RonaldJ.; Brambati, B.; Miny, Peter; Holzgreve, Wolfgang; Horst, Jürgen; Lenz, W

doi:10.1016/0140-6736(91)93117-r

Cited by 57 publications

(19 citation statements)

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“…Some of these infants had associated constriction rings and digit fusion, but most did not. Because both misoprostol-exposed 2,22 and CVS-exposed infants 5,19,20 (D. Wilson, personal communication, September 22, 1999, and J. Zachary, personal communication, January 3, 2000) have an increased frequency of limb reduction defects involving only 1 or 2 digits, including some with the appearance of the amniotic band type of defects, this baseline frequency could be particularly helpful to the study of infants who have had those exposures.…”

Section: Resultsmentioning

confidence: 99%

“…Light and Ogden 24 and Czeizel et al, 25 in their respective reviews of 88 and 126 affected children, found that the hands were involved much more often than the feet and that the most frequently affected fingers were the third, fourth, and second, in that order. The animal model of fetal hypoxia, described by Webster et al, 9 showed that hypoplasia of digits 2 to 4 could be produced, including hypoplasia of only the distal portion of the middle finger, a finding observed among CVS-exposed infants with limb reduction defects 19 …”

Section: Resultsmentioning

confidence: 99%

“…In studies of the limb reduction defects associated with CVS, some authors excluded this group 17 and others included it. 18 However, several reported CVS-exposed infants with limb reduction defects have had absence of the distal portion of the third finger 19 20 with or without tapering and stiffness, which could be considered consistent with the diagnosis of the amniotic band syndrome. Therefore, if a deficiency of 1 or 2 digits can be caused by exposure to a teratogen, then these specific outcomes must be included in the assessment of the fetal risks from these exposures.…”

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confidence: 90%

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Limb Deficiencies in Newborn Infants

2001

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ABSTRACT. Objective. The prevalence rate of all types of limb reduction defects in general and those that potentially are caused by vascular disruption in particular is needed to provide a baseline for the evaluation of infants who are exposed in utero to teratogens that cause vascular disruption. The objective of this study was to determine this prevalence rate.Methods. All infants with any limb deficiency among 161 252 liveborn and stillborn infants and elective terminations were identified in a hospital-based Active Malformations Surveillance Program in Boston in the years 1972 to 1974 and 1979 to 1994. An extensive search was made to identify infants who were missed by the Surveillance Program; an additional 8 infants (7.3% of total) were identified. The limb reduction defects were classified in 3 ways: 1) by the anatomic location of the defect, that is longitudinal, terminal, intercalary, etc; 2) for infants with absence/hypoplasia of fingers or toes, a tabulation of which digit or digits were affected; and 3) by apparent cause.Results. The prevalence rate for all types of limb deficiency was 0.69/1000. The apparent causes included single mutant genes, familial occurrence, and known syndromes (24%); chromosome abnormalities (6%); teratogens (4%); vascular disruption (35%); and unknown cause (32%).Conclusions. A hospital-based surveillance program can be used to establish the prevalence of limb reduction defects, if ascertainment is extended to include elective terminations for fetal abnormalities. An apparent cause can be established for most limb defects when the clinical findings are used rather than reliance only on the International Classification of Diseases, Ninth Revision, codes of the discharge diagnoses. The prevalence rate of limb reduction defects as a result of presumed vascular disruption was 0.22/1000. Pediatrics 2001;108(4). URL: http://www.pediatrics.org/cgi/content/full/108/4/e64; limb deficiency, vascular disruption.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

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Limb Deficiencies in Newborn Infants

2001

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“…On the other hand, Monni et al (1991) report no increase in limb reduction defects among 525 babies born following CVS. Mahoney et al (1991) report on the results of the follow-up of 9588 pregnancies receiving CVS in the U.S. trial. One thousand and twenty-five of these procedures were done at 66 days or less.…”

Section: Concluding Discussionmentioning

confidence: 99%

Canadian multicentre randomized clinical trial of chorion villus sampling and amniocentesis: Final report

et al. 1992

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“…These reports stimulated several studies of the limb defects identified in children whose mothers had had CVS [Mahoney, 1991;Olney et al, 1995].…”

Section: Chorionic Villus Samplingmentioning

confidence: 95%

Teratogen‐induced limb defects

Holmes

2002

Am. J. Med. Genet.

101

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Limb abnormalities are one of the most common and visible phenotypic effects of several human teratogens. The specific effects are different for most teratogens and include effects on limb morphogenesis (thalidomide, warfarin, phenytoin, valproic acid) and the effect of vascular disruption on a limb that had formed normally (misoprostol, chorionic villus sampling, and phenytoin). Either duplication (preaxial polydactyly of hands and feet) or deficiency (absence of thumb) is a common effect of thalidomide; no other human teratogen identified to date has this effect on the developing limb. Procedures during pregnancy, including chorionic villus sampling and dilation and curettage, produce defects of vascular disruption. For common exposures, such as alcohol and cocaine, it has been difficult to confirm objectively the exposure during embryogenesis and to ascribe specific limb defects that are produced. The molecular basis for the limb defects produced by the recognized human teratogens remains unknown.

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Limb abnormalities and chorionic villus sampling

Cited by 57 publications

References 4 publications

Limb Deficiencies in Newborn Infants

Limb Deficiencies in Newborn Infants

Canadian multicentre randomized clinical trial of chorion villus sampling and amniocentesis: Final report

Teratogen‐induced limb defects

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