Severe limb abnormalities after chorion villus sampling at 56-66 days' gestation

Firth, Helen V.; Boyd, Patricia A.; Chamberlain, P.; MacKenzie, I.Z.; Lindenbaum, R. H.; Huson, Susan M.

doi:10.1016/0140-6736(91)91374-4

Cited by 361 publications

(139 citation statements)

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“…The main symptoms that were reported by the mothers that used misoprostol during pregnancy were cramps and bleeding, which are related to the increased uterine muscle contractions induced by misoprostol (20) . The main recreational drugs used by these mothers were cigarettes and alcohol, although there were cases of marijuana and cocaine use.…”

Section: Discussionmentioning

confidence: 99%

“…Möbius sequence is a rare congenital disorder with an estimated prevalence in the general population of 1:500 to 1:5,000 newborns (7,12) . Although most cases are sporadic and some have been re- lated to genetic mutations (13)(14)(15) , intrauterine exposure to misoprostol and other teratogens has been associated with its occurrence (16)(17)(18)(19)(20)(21) . The aim of the present study was to report the sociodemographic profiles, teratogen exposures, and congenital abnormalities in patients with Möbius sequence.…”

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confidence: 99%

“…In addition, in more than 50% of cases, the environmental agent that caused a fetal anomaly is not identified (3) . Misoprostol, alcohol, cigarettes, marijuana, cocaine, and rubella have been associated with Möbius sequence (7,10,13,(16)(17)(18)20,21,29,30) . In the present study, teratogens could be identified in most cases (56%), and 9.8% of the mothers were exposed to more than one teratogen.…”

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confidence: 99%

“…The results of the present study agreed with these previous findings; the mothers that used misoprostol were generally younger and single or divorced. Conversely, the percentages of mothers with low education were similar in both groups.The main symptoms that were reported by the mothers that used misoprostol during pregnancy were cramps and bleeding, which are related to the increased uterine muscle contractions induced by misoprostol (20) . The main recreational drugs used by these mothers were cigarettes and alcohol, although there were cases of marijuana and cocaine use.…”

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Teratogen exposure and congenital ocular abnormalities in Brazilian patients with Möbius sequence

Ventura¹,

Ventura²,

Miller³

et al. 2014

Arquivos Brasileiros De Oftalmologia

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Purpose: To assess the sociodemographic profiles, teratogen exposures, and ocu lar congenital abnormalities in Brazilian patients with Möbius sequence. Method: Forty-four patients were recruited from the Brazilian Möbius Sequence Society. This cross-section comprised 41 patients (age, mean ± standard deviation, 9.0 ± 5.5 years) who fulfilled the inclusion criteria. The parent or caregiver answered a questionnaire regarding sociodemographic data and pregnancy history. Patients underwent ophthalmological assessments. They were subdivided into groups according to misoprostol exposure during pregnancy, and the two groups were compared. Results: Mothers/caregivers reported unplanned pregnancies in 36 (88%) cases. Of these, 19 (53%) used misoprostol during their first trimesters. A stable marital status tended to be more frequent in the unexposed group (P=0.051). Incomplete elementary school education was reported by two (11%) mothers in the exposed group and by three (14%) mothers in the unexposed group (P=0.538). The mothers' gestational exposures to cocaine, marijuana, alcohol, and cigarettes were similar in both groups (P=0.297, P=0.297, P=0.428, and P=0.444, respectively). One (5%) case of Rubella infection during pregnancy was found in the unexposed group. The main malformations in the exposed and unexposed groups were the following: strabismus (72% and 77%, respectively), lack of emotional tearing (47% and 36%, respectively), and lagophthalmos (32% and 41%, respectively). Conclusions: Stable marital statuses tended to be more frequent among mothers that did not take misoprostol during pregnancy. Exposures to other teratogens and the main ocular abnormalities were similar in both groups. (P=0,297, P=0,297, P=0,428, P=0,444, respectivamente The use of abortive medications, such as misoprostol and certain herbal teas, are common in these countries (7,8) and are associated with congenital anomalies (7,(9)(10)(11) . Möbius sequence is a rare congenital disorder with an estimated prevalence in the general population of 1:500 to 1:5,000 newborns (7,12) . Although most cases are sporadic and some have been re- lated to genetic mutations (13)(14)(15) , intrauterine exposure to misoprostol and other teratogens has been associated with its occurrence (16)(17)(18)(19)(20)(21) . The aim of the present study was to report the sociodemographic profiles, teratogen exposures, and congenital abnormalities in patients with Möbius sequence. Keywords METHODSThis cross-sectional study followed the tenets of the Declaration of Helsinki and was approved by the Ethics Committee on Human Research of the Santa Casa de Misericórdia of São Paulo. Each patient and/or caregiver gave written informed consent before being included in the study. The data used in this study were collected by a multidisciplinary team from several institutions from North America (University of Illinois, Chicago) The Brazilian Möbius Syndrome Society is an association in southeastern Brazil for patients with Möbius sequence. The patients were recruited b...

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

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Teratogen exposure and congenital ocular abnormalities in Brazilian patients with Möbius sequence

Ventura¹,

Ventura²,

Miller³

et al. 2014

Arquivos Brasileiros De Oftalmologia

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“…Not all of these teratogens cause a highly specific pattern of limb reduction defects. The most widely known teratogen causing limb reduction defects is certainly thalidomide (1), but other limb reduction defect patterns have been associated with prenatal exposure to hydantoin (2), ethanol (3), cocaine (4), and possibly mechanical vascular disruption by early chronic villus sampling (5).…”

Section: Introductionmentioning

confidence: 99%

Maternal factors, medications, and drug exposure in congenital limb reduction defects.

Froster

Baird

1993

Environ Health Perspect

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As part of an ongoing study on all limb reduction defects occurring among 1,213,913 consecutive live births in the province of British Columbia, Canada, during 1952-1984, cases with documented maternal drug exposure and chronic maternal diseases were analyzed separately. This population-based study was made possible through the existence of an ongoing Health Surveillance Registry, which documents all infants born with congenital, genetic, or chronically handicapping conditions in the province of British Columbia. Strict rules of confidentiality are obeyed. For this part of the analysis of limb reduction defects, cases with documented maternal illness, drug abuse, and exposure to environmental hazards early in pregnancy were analyzed as a separate group to identify specific, recurring patterns of anomalies. A total of 51 cases with possibly related maternal factors were identified. Among them were five cases with maternal epilepsy, four cases with documented maternal diabetes, and three cases with uterine anomalies. Three infants, all born in 1962, had documented thalidomide exposure. It is rarely possible to identify particular teratogenic factors or specific maternal factors as etiologically related to the pattern of limb reduction defects or a spectrum of congenital malformations. Exposure to environmental factors during pregnancy is not reliably registered and can thus only occasionally be ascertained in retrospective studies. This means that very large numbers of cases and cross-referencing to other family members are required to assess whether a potential teratogen is related to limb defects or not.

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

Botto

Olney²,

Mastroiacovo

et al. 1996

Am. J. Med. Genet.

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Severe limb abnormalities after chorion villus sampling at 56-66 days' gestation

Cited by 361 publications

References 5 publications

Teratogen exposure and congenital ocular abnormalities in Brazilian patients with Möbius sequence

Teratogen exposure and congenital ocular abnormalities in Brazilian patients with Möbius sequence

Maternal factors, medications, and drug exposure in congenital limb reduction defects.

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

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