Sociodemographic, health behavioral, and clinical risk factors for anotia/microtia in a population-based case-control study

Ryan, Marisa A.; Olshan, Andrew F.; Canfield, Mark A.; Hoyt, Adrienne T.; Scheuerle, Angela E.; Carmichael, Suzan L.; Shaw, Gary M.; Werler, Martha M.; Fisher, Sarah C.; Desrosiers, Tania A.

doi:10.1016/j.ijporl.2019.03.026

Cited by 22 publications

(38 citation statements)

References 44 publications

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“…The exposure to potential teratogens is crucial to estimate the risk associated with the social context [36,37]. In fact, the etiological complexity of birth defects, maternal sociodemographic factors may influence adverse outcomes in embryonic development [36]. In the present study, maternal education up to 7 years was associated with major birth defects.…”

Section: Discussionmentioning

confidence: 50%

“…Genetic defects such as chromosomal disorders are more often investigated when compared to environmental factors [18]. The exposure to potential teratogens is crucial to estimate the risk associated with the social context [36,37]. In fact, the etiological complexity of birth defects, maternal sociodemographic factors may influence adverse outcomes in embryonic development [36].…”

Section: Discussionmentioning

confidence: 99%

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Major birth defects in the Brazilian side of the triple border: a population-based cross-sectional study

2020

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Background: Major birth defects increase the risk of fetal death and pediatric hospitalization, which also impact on healthcare costs. Sociodemographic factors can drastically affect reproductive health and be used to discriminate the exposure to hidden risk factors. Foz do Iguassu is a Brazilian city located in the triple-border region of Brazil / Paraguay / Argentina with high rates of birth defects. However no study aimed to verify factors associated with this incidence or preventive care is reported. The current work investigated the prevalence of major birth defects and its association with maternal sociodemographic factors in Foz do Iguassu. Methods: In this population-based cross-sectional study we used data of all live births occurred in Foz do Iguassu from 2012 to 2017. The associated sociodemographic variables such as maternal age, maternal education, maternal race, country of residence, maternal parity and onset of prenatal care were analyzed. Each major birth defect was described according to absolute and relative frequencies, Kruskal-Wallis and logistic regression models were used to evaluate variables associated with selected birth defects. Results: The most prevalent major birth defects were Cleft Lip and/or Palate (9.5/10,000), gastroschisis (6.93/10,000), spina bifida (5.53/10,000), hydrocephalus (5.53/10,000), hypospadias (4.55/10,000), Down syndrome (4.23/10,000), anencephaly (2.93/10,000), anorectal atresia / stenosis (1.95/10,000), undetermined sex (1.95/10,000), esophageal atresia / stenosis with or without fistula (1.63/10,000) and limb reduction defects (1.30/10,000). Maternal age was associated with gastroschisis and Down syndrome. Only maternal education up to 7 years was statistically associated with major birth defects considering all other sociodemographic variables. Conclusion: Cleft Lip and/or Palate and Gastroschisis prevalence were higher than those found in the literature. This findings may suggest a distinct epidemiological behavior regarding major birth defects in the region. The work opens new perspectives for birth defects risk factors in the triple-border.

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Section: Discussionmentioning

confidence: 50%

Section: Discussionmentioning

confidence: 99%

Major birth defects in the Brazilian side of the triple border: a population-based cross-sectional study

2020

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“…The patient did not have any of these high risk factors but folic acid supplementation which has shown to be protective was not taken by our patient during her antenatal period. [6] Isolated cases of microtia-anotia are generally autosomal dominant and multifactorial while cases with bilateral anomaly are generally associated with other syndromes including congenital rubella syndrome, Treacher-Collins syndrome, Velo-cardio-facial syndrome, thalidomide or retinoic acid embryopathy, diabetic embryopathy or as a variant of Goldenhar syndrome. The infant in this case had congenital bilateral anotia with unilateral facial paralysis and heart disease, a triad which has been first described by Pearl in 1984.…”

Section: Case Discussionmentioning

confidence: 99%

Congenital Bilateral Microtia-Anotia: A Clinical Challenge

2021

IJCR

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Microtia- Anotia (M-A) is a rare congenital malformation of the external ear structure commonly associated with atresia or stenosis of the ear canal. Its prevalence is more common in Asians and Hispanics, is generally unilateral and is seen more commonly in males. It can either be an isolated defect or be a part of specific pattern of anomalies involving other organs. It has been documented as a component of either a teratogenic embryopathy (isotretinoin, thalidomide or alcohol) or single gene disorders like Treacher Collins and as a part of a pattern of multiple defects like Goldenhar, Nager and CHARGE syndrome. We report a case of a newborn with bilateral microtia-anotia and facial palsy, who on further evaluation was found to have congenital heart disease also. The triad of anotia, facial paralysis and cardiac anomaly is rare and has been first described by Pearl in 1984.Thus, the obviously visible ear malformation at birth should be evaluated in depth to rule out other underlying malformations.

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“…The definition of malformations due to maternal diabetes in our study added conotruncal heart defects, microtia, and anencephaly to the list of specific DRMs suggested by Feldkamp et al (2017). We included these additional malformations because recent epidemiologic evidence that pregestational diabetes caused these defects was convincing (Chen et al, 2019; Nasri et al, 2018; Ryan et al, 2019; Tinker et al, 2020).…”

Section: Discussionmentioning

confidence: 99%

“…The cases of maternal DRM identified for the estimate of prevalence were the offspring of mothers with pregestational diabetes documented in the UBDN with specific outcomes. To assign the maternal diabetes as the cause, the mother had to have evidence of type 1 or 2 pregestational diabetes mellitus and to have delivered a fetus or infant with one or more of the following selected DRMs based on convincing evidence in the literature (Correa et al, 2008; Miller et al, 2010; Castori, 2013; Oyen et al, 2016;Nasri et al, 2018; Ryan et al, 2019; Chen et al, 2019; Nalbandyan et al, 2019; Tinker et al, 2020): sacral agenesis/caudal dysgenesis, femoral aplasia/hypoplasia, multiple vertebral defects, holoprosencephaly, heterotaxy, conotruncal heart malformations, bilateral renal defects (renal a/dysplasia), microtia, and anencephaly. All cases of sacral agenesis (full or partial) and caudal dysgenesis were lumped together into a single category (Nalbandyan et al, 2019).…”

Section: Methodsmentioning

confidence: 99%

Maternal diabetes‐related malformations inUtah: A population study of birth prevalence 2001–2016

Orbain

Johnson

Nance

et al. 2020

Birth Defects Research

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Maternal pregestational diabetes mellitus is associated with an increased risk for congenital malformations of about 2–4 times the background risk. Notably, the types and patterns of congenital malformations associated with maternal diabetes are nonrandom, with a well‐established increased risk for specific classes of malformations, especially of the heart, central nervous system, and skeleton. While the increased risk in clinical and epidemiological studies is well documented in the literature, a precise estimate of overall birth prevalence of these specific congenital malformations among women with maternal pregestational diabetes, is lacking. The purpose of this study was to determine total prevalence of structural malformations associated with maternal pregestational diabetes mellitus in a population‐based study. We identified infants with specific birth defects whose mother had pregestational diabetes mellitus in the Utah Birth Defect Network (UBDN), an active birth defects surveillance program that registers the occurrence of selected structural defects in the state of Utah. We defined specific maternal diabetes‐related malformations based on epidemiologic and clinical studies in the literature. Of the 825,138 recorded Utah births between 2001 and 2016, a total of 91 cases were identified as likely having diabetic embryopathy within UBDN data. The prevalence of diabetes‐related congenital malformation cases was calculated per year; the overall prevalence of diabetes‐related malformations 2001–2016 was 1.1 per 10,000 births in Utah (95% CI, 0.9–1.3). Knowledge of the overall prevalence of diabetes‐related malformations is important in predicting the number of cases that are potentially prevented with the implementation of programs to foster preconceptional management of maternal pregestational diabetes.

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Sociodemographic, health behavioral, and clinical risk factors for anotia/microtia in a population-based case-control study

Cited by 22 publications

References 44 publications

Major birth defects in the Brazilian side of the triple border: a population-based cross-sectional study

Major birth defects in the Brazilian side of the triple border: a population-based cross-sectional study

Congenital Bilateral Microtia-Anotia: A Clinical Challenge

Maternal diabetes‐related malformations inUtah: A population study of birth prevalence 2001–2016

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