Congenital malformation case reports: The editor's and reviewer's dilemma

Brent, Robert L.

doi:10.1002/ajmg.1320470614

Cited by 20 publications

(3 citation statements)

References 36 publications

(16 reference statements)

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“…Several factors have been suggested as helpful in assessing a potential teratogen [Table I in Brent, 1993; Shepard, 1994]; these include (1) epidemiologic studies demonstrating an association between an exposure and adverse birth outcome, (2) evidence of teratogenicity in experimental animals, (3) temporal plausibility of the exposure/disease relationship, (4) evidence of a dose–response relationship between exposure and outcome, and (5) a biologically plausible mechanism by which the agent could act to produce the birth defects observed.…”

Section: Discussion and Literature Reviewmentioning

confidence: 99%

Reviewing the evidence for mycophenolate mofetil as a new teratogen: Case report and review of the literature

Anderka¹,

Lin²,

Abuelo³

et al. 2009

American J of Med Genetics Pt A

197

111

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Mycophenolate mofetil (MMF) (CellCept) is an immunosuppressant drug that is teratogenic in rats and rabbits. Reports of malformations in 13 offspring of women exposed to MMF in pregnancy raise concern that MMF is also a human teratogen. We report an additional child with malformations following prenatal exposure to MMF and review the other 13 reports. We identified a Cambodian male born at 31 weeks' gestation to a mother who had been treated for lupus nephritis with MMF from before conception to 12 weeks' gestational age. He had bilateral moderate-to-severe microtia, external auditory canal atresia, bilateral conductive hearing loss, mild microcephaly, and apparently normal development. Among the 14 MMF-exposed offspring now reported, the underlying maternal conditions were kidney transplantation (7), lupus nephritis (4), liver transplantation (1), heart transplantation (1), and recurrent erythema multiforme (1). All were exposed in early pregnancy. The most distinctive malformation was moderate-to-severe microtia or anotia (12), with external auditory canal atresia in 9. Other common craniofacial malformations and minor anomalies included orofacial clefts (7), hypertelorism (3), coloboma (3), and micrognathia (3). Six had cardiovascular malformations, of which three were either conotruncal or aortic arch defects. MMF dose, reported in 12 patients, was <1 g/day in 4 and 1 g or more/day in 8; no correlation between dose and phenotype severity was apparent. While case reports have limited value in identifying human teratogens, the unusual distribution of malformations among the 14 reported exposed offspring identifies a phenotype suggesting that MMF is likely a human teratogen.

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Section: Discussion and Literature Reviewmentioning

confidence: 99%

Reviewing the evidence for mycophenolate mofetil as a new teratogen: Case report and review of the literature

Anderka¹,

Lin²,

Abuelo³

et al. 2009

American J of Med Genetics Pt A

197

111

View full text Add to dashboard Cite

show abstract

“…This method and approach, however, has important limitations as alluded to previously. The recognition of one or two similar patients could represent chance, as no denominator of risk is available when observing individual cases (Brent,1993). Without controlled studies, the possibility still remains that the observations are due to chance.…”

Section: Discussionmentioning

confidence: 99%

Determination of human teratogenicity by the astute clinician method: Review of illustrative agents and a proposal of guidelines

Carey

Martinez

Balken

et al. 2008

Birth Defects Research

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“…Estimating that millions of pregnancies yearly are exposed to misoprostol, at least in Brazil, Brent 10 recommended caution with case report publications, since almost every defect could be expected to occur in a misoprostol exposed pregnancy. In a prospective study of 17 cases exposed to misoprostol no defects were identified 11 .…”

Section: Introductionmentioning

confidence: 99%

Epidemiological assessment of misoprostol teratogenicity

Orioli

Castilla

2000

BJOG

121

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Objective To verify if any of the 15 congenital defects already reported in association with misoprostol can be Design Methods Comparison of misoprostol exposure for each specific defect, using the exposure for the rest of defects as a reference group.Population Four thousand six hundred seventy-three consecutive newborn infants with malformations of unknown aetiology, in the Latin American Collaborative Study of Congenital Malformation.Results There was no difference in exposure rate between the malformed (34/4673) and nonmalformed (23/4980) newborns. Four of the five more frequently cited defects in the literature were found to be in excess: constriction ring, terminal transverse-limb defects, hydrocephalus, and arthrogryposis. Equinovarus feet had a normal frequency in our study. Thirteen different defects not described in the literature were seen in our misoprostol exposed cases, but only holoprosencephaly and bladder exstrophy significantly exceeded the expected number. ConclusionsThe confirmation from an epidemiological registry of an association for four of the five more commonly observed congenital defects among misoprostol exposed children described in the literature seems indicative of a real teratogenic effect. The defects are of vascular disruption type. However, additional attempts to achieve abortion could not be excluded as a concurrent contribution.found within an epidemiological registry of congenital defects.Case-control study including case-sick and case-health controls.

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Congenital malformation case reports: The editor's and reviewer's dilemma

Cited by 20 publications

References 36 publications

Reviewing the evidence for mycophenolate mofetil as a new teratogen: Case report and review of the literature

Reviewing the evidence for mycophenolate mofetil as a new teratogen: Case report and review of the literature

Determination of human teratogenicity by the astute clinician method: Review of illustrative agents and a proposal of guidelines

Epidemiological assessment of misoprostol teratogenicity

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