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Article: Mothers of children with Down syndrome: a clinical and epidemiological study.

Aprigio, Joissy / de Castro, Carolina M L / Lima, Marcelo A Costa / Ribeiro, Márcia G / Orioli, Iêda M / Amorim, Márcia R

Journal of community genetics

2022 Volume 14, Issue 2, Page(s) 189–195

Abstract: Down syndrome is the main genetic cause of intellectual disability. Many studies describe the clinical characteristics of DS patients; however, few have investigated the clinical profile of mothers who have children with DS. Advanced maternal age (≥ 35 ... ...

Abstract	Down syndrome is the main genetic cause of intellectual disability. Many studies describe the clinical characteristics of DS patients; however, few have investigated the clinical profile of mothers who have children with DS. Advanced maternal age (≥ 35 years old) is a risk factor for DS. Although there is an overall increase in pregnancies among women with advanced maternal age, there is still a lack of awareness of the increased risk of aneuploidy. Here, we reported the clinical and epidemiological profile of DS children and their mothers in a public reference hospital in the State of Rio de Janeiro, Brazil. For data collection, we performed a face-to-face interview guided by a structured questionnaire with closed-ended questions. A total of 344 individuals, 172 mothers and their DS children, were included in this study. Our results show that 56% of the mothers sampled were ≥ 35 years of age at childbirth. Although 98% of them received prenatal care, only 4% obtained a prenatal diagnosis of DS. Most mothers reported not drinking alcohol or smoking cigarettes during pregnancy. Furthermore, 91% of women took prenatal vitamins and supplements; however, 47% were not aware of their benefits for a healthy pregnancy. Given the strict correlation between advanced maternal age and DS, prenatal care should include genetic counseling for women over 35 years of age. This study highlights the importance of prenatal care and the urgent need for better DS screening allowing for immediate postnatal care, positively impacting the life expectancy of these patients.
Language	English
Publishing date	2022-12-23
Publishing country	Germany
Document type	Journal Article
ZDB-ID	2543127-4
ISSN	1868-6001 ; 1868-310X
ISSN (online)	1868-6001
ISSN	1868-310X
DOI	10.1007/s12687-022-00627-7
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Article ; Online: ICD-10 impact on ascertainment and accuracy of oral cleft cases as recorded by the Brazilian national live birth information system.

do Nascimento, Ricardo Lima / Castilla, Eduardo E / Dutra, Maria da Graça / Orioli, Iêda M

American journal of medical genetics. Part A

2018 Volume 176, Issue 4, Page(s) 907–914

Abstract: We compared Brazilian oral cleft (OC) frequencies between the population-based Brazilian System of Live Birth (SINASC) and the hospital-based Latin American Collaborative Study of Congenital Malformations (ECLAMC), trying to understand the paucity of ... ...

Abstract	We compared Brazilian oral cleft (OC) frequencies between the population-based Brazilian System of Live Birth (SINASC) and the hospital-based Latin American Collaborative Study of Congenital Malformations (ECLAMC), trying to understand the paucity of cleft of lip and palate (CLP) in the first system. SINASC uses the International Classification of Disease version 10 (ICD-10) for congenital defects coding, ECLAMC uses ICD-8 with modifications. In SINASC, the CLP frequency was 1.7 per 10,000 (95% confidence limits 1.7-1.8), cleft lip (CL) 1.6 (1.5-1.7), and cleft palate (CP) 2.0 (1.9-2.1). In ECLAMC, the CLP frequency was 10.4 per 10,000 (9.0-12.1), CL 5.5 (4.5-6.7), and CP 4.4. (4.5-6.7). In SINASC, only 33% of the oral clefts were CLP, versus 51% in ECLAMC. Part of this discrepancy may have been due to the relative excess of CP and CL cases. Although congenital defect frequencies are usually lower in population than in hospital-based registries, differences in the proportion of the main OC categories are not expected and are probably due to ICD-10 coding issues, such as lumping of unilateral CL and CL without other specifications. ICD-10 codes, whose deficiency for oral clefts is fully explained in the literature, lack modifiers for severity, or clinical subtypes. This paper shows the practical aspect of the ICD-10 system deficiency in capturing cleft lip and palate (CLP) subtypes, as demonstrated in SINASC covering three million births per year. Such errors are expected to occur in any registry that uses the ICD-10 coding system, and must be adjusted, given its relevance worldwide.
MeSH term(s)	Brazil/epidemiology ; Cleft Lip/epidemiology ; Cleft Palate/diagnosis ; Cleft Palate/epidemiology ; Female ; Humans ; International Classification of Diseases ; Live Birth/epidemiology ; Male ; Phenotype ; Population Surveillance ; Predictive Value of Tests ; Pregnancy
Language	English
Publishing date	2018-02-09
Publishing country	United States
Document type	Journal Article ; Multicenter Study
ZDB-ID	1493479-6
ISSN	1552-4833 ; 1552-4825
ISSN (online)	1552-4833
ISSN	1552-4825
DOI	10.1002/ajmg.a.38634
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Article: Genealogical data in population medical genetics: Field guidelines.

Poletta, Fernando A / Orioli, Ieda M / Castilla, Eduardo E

Genetics and molecular biology

2014 Volume 37, Issue 1 Suppl, Page(s) 171–185

Abstract: This is a guide for fieldwork in Population Medical Genetics research projects. Data collection, handling, and analysis from large pedigrees require the use of specific tools and methods not widely familiar to human geneticists, unfortunately leading to ... ...

Abstract	This is a guide for fieldwork in Population Medical Genetics research projects. Data collection, handling, and analysis from large pedigrees require the use of specific tools and methods not widely familiar to human geneticists, unfortunately leading to ineffective graphic pedigrees. Initially, the objective of the pedigree must be decided, and the available information sources need to be identified and validated. Data collection and recording by the tabulated method is advocated, and the involved techniques are presented. Genealogical and personal information are the two main components of pedigree data. While the latter is unique to each investigation project, the former is solely represented by gametic links between persons. The triad of a given pedigree member and its two parents constitutes the building unit of a genealogy. Likewise, three ID numbers representing those three elements of the triad is the record field required for any pedigree analysis. Pedigree construction, as well as pedigree and population data analysis, varies according to the pre-established objectives, the existing information, and the available resources.
Language	English
Publishing date	2014-03-05
Publishing country	Brazil
Document type	Journal Article ; Review
ZDB-ID	1445712-x
ISSN	1678-4685 ; 1415-4757
ISSN (online)	1678-4685
ISSN	1415-4757
DOI	10.1590/s1415-47572014000200004
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Article ; Online: Epidemiology of holoprosencephaly: Prevalence and risk factors.

Orioli, Iêda M / Castilla, Eduardo E

American journal of medical genetics. Part C, Seminars in medical genetics

2010 Volume 154C, Issue 1, Page(s) 13–21

Abstract: The wide variation in cerebral and facial phenotypes and the recognized etiologic heterogeneity of holoprosencephaly (HPE) contribute to the observed inter-study heterogeneity. High lethality during the early stages of embryonic and fetal development ... ...

Abstract	The wide variation in cerebral and facial phenotypes and the recognized etiologic heterogeneity of holoprosencephaly (HPE) contribute to the observed inter-study heterogeneity. High lethality during the early stages of embryonic and fetal development makes HPE detection age dependent. By reviewing 21 HPE epidemiologic articles, the observed prevalence rate differences can be largely explained by the pregnancy outcome status of the studied cohort: livebirth, stillbirth, and terminations of pregnancy (TOPs): lower than 1 per 10,000 when live and still births were included, higher when TOPs were included, and between 40 and 50 per 10,000 in two classical Japanese studies on aborted embryos. The increasing secular trend observed in some studies probably resulted from an increasing use of prenatal sonography. Ethnic variations in birth prevalence rates (BPRs) could occur in HPE, but the available data are not very convincing. Higher BPRs were generally observed in the less favored minorities (Blacks, Hispanics, Pakistanis), suggesting a bias caused by a lower prenatal detection rate of HPE, and consequently less TOPs. Severe ear defects, as well as microstomia, were part of the spectrum of HPE. Non-craniofacial anomalies, more frequently associated with HPE than expected, were genital anomalies (24%), postaxial polydactyly (8%), vertebral defects (5%), limb reduction defects (4%), and transposition of great arteries (4%). The variable female predominance, found in different HPE studies, could also depend on the proportion of early conceptions in each study sample, as males are more likely to be lost through spontaneous abortions.
MeSH term(s)	Birth Rate ; Female ; Holoprosencephaly/epidemiology ; Holoprosencephaly/ethnology ; Holoprosencephaly/etiology ; Humans ; Male ; Pregnancy ; Prevalence ; Risk Factors
Language	English
Publishing date	2010-02-15
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2108622-9
ISSN	1552-4876 ; 0148-7299 ; 1552-4868
ISSN (online)	1552-4876
ISSN	0148-7299 ; 1552-4868
DOI	10.1002/ajmg.c.30233
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Article: Letter to the editor. Liu Q, Yang M L, Li Z J, Bai X F, Wang XK, Lu L, Wang Y X. A simple and precise classification for cleft lip and palate: a five digit numerical recording system. Cleft Palate Craniofac J. 2007;44:465-8.

Castilla, Eduardo E / Orioli, Iêda M

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

2009 Volume 46, Issue 2, Page(s) 220

MeSH term(s)	Alveolar Process/pathology ; China ; Cleft Lip/classification ; Cleft Palate/classification ; Dental Informatics ; Humans ; Information Storage and Retrieval ; Lip/pathology ; Palate, Hard/pathology ; Palate, Soft/pathology ; Registries ; South America
Language	English
Publishing date	2009-03
Publishing country	United States
Document type	Comment ; Letter
ZDB-ID	1069409-2
ISSN	1545-1569 ; 1055-6656 ; 0009-8701
ISSN (online)	1545-1569
ISSN	1055-6656 ; 0009-8701
DOI	10.1597/07-235.1
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Article ; Online: Multivariate GWAS of Structural Dental Anomalies and Dental Caries in a Multi-Ethnic Cohort.

Alotaibi, Rasha N / Howe, Brian J / Moreno Uribe, Lina M / Ramirez, Consuelo Valencia / Restrepo, Claudia / Deleyiannis, Frederic W B / Padilla, Carmencita / Orioli, Ieda M / Buxó, Carmen J / Hecht, Jacqueline T / Wehby, George L / Neiswanger, Katherine / Murray, Jeffery C / Shaffer, John R / Weinberg, Seth M / Marazita, Mary L

Frontiers in dental medicine

2022 Volume 2

Abstract: Odontogenesis is a complex process, where disruption can result in dental anomalies and/or increase the risk of developing dental caries. Based on previous studies, certain dental anomalies tend to co-occur in patients, suggesting that these traits may ... ...

Abstract	Odontogenesis is a complex process, where disruption can result in dental anomalies and/or increase the risk of developing dental caries. Based on previous studies, certain dental anomalies tend to co-occur in patients, suggesting that these traits may share common genetic and etiological components. The main goal of this study was to implement a multivariate genome-wide association study approach to identify genetic variants shared between correlated structural dental anomalies and dental caries. Our cohort (
Language	English
Publishing date	2022-01-04
Publishing country	Switzerland
Document type	Journal Article
ISSN	2673-4915
ISSN (online)	2673-4915
DOI	10.3389/fdmed.2021.771116
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Article ; Online: Author Correction: Dental anomaly detection using intraoral photos via deep learning.

Ragodos, Ronilo / Wang, Tong / Padilla, Carmencita / Hecht, Jacqueline T / Poletta, Fernando A / Orioli, Iêda M / Buxó, Carmen J / Butali, Azeez / Valencia-Ramirez, Consuelo / Muñeton, Claudia Restrepo / Wehby, George L / Weinberg, Seth M / Marazita, Mary L / Moreno Uribe, Lina M / Howe, Brian J

Scientific reports

2022 Volume 12, Issue 1, Page(s) 13541

Language	English
Publishing date	2022-08-08
Publishing country	England
Document type	Published Erratum
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-022-17668-0
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Article ; Online: Dental anomaly detection using intraoral photos via deep learning.

Ragodos, Ronilo / Wang, Tong / Padilla, Carmencita / Hecht, Jacqueline T / Poletta, Fernando A / Orioli, Iêda M / Buxó, Carmen J / Butali, Azeez / Valencia-Ramirez, Consuelo / Restrepo Muñeton, Claudia / Wehby, George L / Weinberg, Seth M / Marazita, Mary L / Moreno Uribe, Lina M / Howe, Brian J

Scientific reports

2022 Volume 12, Issue 1, Page(s) 11577

Abstract: Children with orofacial clefting (OFC) present with a wide range of dental anomalies. Identifying these anomalies is vital to understand their etiology and to discern the complex phenotypic spectrum of OFC. Such anomalies are currently identified using ... ...

Abstract	Children with orofacial clefting (OFC) present with a wide range of dental anomalies. Identifying these anomalies is vital to understand their etiology and to discern the complex phenotypic spectrum of OFC. Such anomalies are currently identified using intra-oral exams by dentists, a costly and time-consuming process. We claim that automating the process of anomaly detection using deep neural networks (DNNs) could increase efficiency and provide reliable anomaly detection while potentially increasing the speed of research discovery. This study characterizes the use of` DNNs to identify dental anomalies by training a DNN model using intraoral photographs from the largest international cohort to date of children with nonsyndromic OFC and controls (OFC1). In this project, the intraoral images were submitted to a Convolutional Neural Network model to perform multi-label multi-class classification of 10 dental anomalies. The network predicts whether an individual exhibits any of the 10 anomalies and can do so significantly faster than a human rater can. For all but three anomalies, F1 scores suggest that our model performs competitively at anomaly detection when compared to a dentist with 8 years of clinical experience. In addition, we use saliency maps to provide a post-hoc interpretation for our model's predictions. This enables dentists to examine and verify our model's predictions.
MeSH term(s)	Child ; Cohort Studies ; Deep Learning ; Humans ; Neural Networks, Computer ; Photography, Dental
Language	English
Publishing date	2022-07-08
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-022-15788-1
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Article ; Online: Clinical epidemiologic study of holoprosencephaly in South America.

Orioli, Iêda M / Castilla, Eduardo E

American journal of medical genetics. Part A

2007 Volume 143A, Issue 24, Page(s) 3088–3099

Abstract: ECLAMC: Latin American Study of Congenital Malformations examined 4,157,224 births (1967-2000), detecting 370 newborns with suspected holoprosencephaly (HPE): 182 (49.2%) had only craniofacial defects; 99 (26.8%) had defects in other systems; (15.1%) had ...

Abstract	ECLAMC: Latin American Study of Congenital Malformations examined 4,157,224 births (1967-2000), detecting 370 newborns with suspected holoprosencephaly (HPE): 182 (49.2%) had only craniofacial defects; 99 (26.8%) had defects in other systems; (15.1%) had chromosomal anomalies; 5 (1.4%) had recognized syndromes; and 28 (7.6%) had isolated median cleft lip. The latter group was excluded from subsequent analyses because of epidemiological differences from the other groups. The birth prevalence rate (BPR) of isolated HPE was homogeneous among the 11 sampled countries, increasing from 0.5/10,000 births to 1/10,000 births between 1967 and 2000, suggesting improved ascertainment, mainly after 1996. Microtia, cleft lip/palate, and microstomia were preferentially associated with HPE, but cleft palate only was not. Maternal diabetes was more prevalent in HPE than in controls when adding the isolated and associated groups (OR: 3.5; 95% CI: 0.9-16.2). Maternal flu was more prevalent in isolated HPE (OR: 3.6; 0.9-16.6) and in isolated plus associated HPE (OR: 2.8; 1.0-7.9) than in controls. A second series of better documented HPE cases, 179 in number (2.2/10,000), ascertained from 827,968 births occurring from 2000 to 2003, was used for phenotypic definition of cerebral and facial anomalies. In 83 of 174 HPE cases with specified cerebral defects, 40% were alobar, 43% were semilobar, and 17% were lobar. All cases of cyclopia, ethmocephaly, and cebocephaly were of the alobar or semilobar types. Female excess occurred in the total sample, but not within the subgroups themselves because of their small sample sizes. Neither alobar HPE nor cyclopia was associated with female predilection. Among the 174 HPE cases, 39% had neither oral clefting nor a severe dysmorphic face. Of facial phenotypes, 26% had cyclopia, ethmocephaly, or cebocephaly; 25% had premaxillary agenesis; and 10% had cleft lip and palate or cleft palate only. Cyclopia was not associated with oral clefts; 6 of 8 cases of ethmocephaly had cleft palate; 6 of 20 cases of cebocephaly had oral clefts; 4 of 20 cases had premaxillary agenesis; and 2 of 20 cases had cleft palate.
MeSH term(s)	Case-Control Studies ; Cleft Lip/diagnosis ; Cleft Lip/genetics ; Cohort Studies ; Congenital Abnormalities/diagnosis ; Congenital Abnormalities/genetics ; Environmental Exposure ; Eye Abnormalities/diagnosis ; Eye Abnormalities/genetics ; Female ; Holoprosencephaly/epidemiology ; Holoprosencephaly/ethnology ; Holoprosencephaly/genetics ; Humans ; Male ; Odds Ratio ; Prevalence ; Risk Factors ; Sex Factors ; South America ; Syndrome
Language	English
Publishing date	2007-11-07
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1493479-6
ISSN	1552-4833 ; 1552-4825
ISSN (online)	1552-4833
ISSN	1552-4825
DOI	10.1002/ajmg.a.32104
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Article ; Online: Individuals with nonsyndromic orofacial clefts have increased asymmetry of fingerprint patterns.

Neiswanger, Katherine / Mukhopadhyay, Nandita / Rajagopalan, Shwetha / Leslie, Elizabeth J / Sanchez, Carla A / Hecht, Jacqueline T / Orioli, Iêda M / Poletta, Fernando A / de Salamanca, Javier Enríquez / Weinberg, Seth M / Marazita, Mary L

PloS one

2020 Volume 15, Issue 3, Page(s) e0230534

Abstract: Dermatoglyphic patterns on the fingers often differ in syndromes and other conditions with a developmental component, compared to the general population. Previous literature on the relationship between orofacial clefts-the most common craniofacial birth ... ...

Abstract	Dermatoglyphic patterns on the fingers often differ in syndromes and other conditions with a developmental component, compared to the general population. Previous literature on the relationship between orofacial clefts-the most common craniofacial birth defect in humans-and dermatoglyphics is inconsistent, with some studies reporting altered pattern frequencies and/or increased asymmetry and others failing to find differences. To investigate dermatoglyphics in orofacial clefting, we obtained dermatoglyphic patterns in a large multiethnic cohort of orofacial cleft cases (N = 367), their unaffected family members (N = 836), and controls (N = 299). We categorized fingerprint pattern types from males and females who participated at five sites of the Pittsburgh Orofacial Cleft study (Hungary, United States of America (Pennsylvania, Texas), Spain, and Argentina). We also calculated a pattern dissimilarity score for each individual as a measure of left-right asymmetry. We tested for group differences in the number of arches, ulnar and radial loops, and whorls on each individual's hands, and in the pattern dissimilarity scores using ANOVA. After taking sex and site differences into account, we did not find any significant pattern count differences between cleft and non-cleft individuals. Notably, we did observe increased pattern dissimilarity in individuals with clefts, compared to both their unaffected relatives and controls. Increased dermatoglyphic pattern dissimilarity in individuals with nonsyndromic orofacial clefts may reflect a generalized developmental instability.
MeSH term(s)	Analysis of Variance ; Brain/abnormalities ; Cleft Lip/diagnosis ; Cleft Lip/genetics ; Cleft Palate/diagnosis ; Cleft Palate/genetics ; Cohort Studies ; Dermatoglyphics ; Family ; Female ; Humans ; Male ; Phenotype ; Sex Factors
Language	English
Publishing date	2020-03-20
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	2267670-3
ISSN	1932-6203 ; 1932-6203
ISSN (online)	1932-6203
ISSN	1932-6203
DOI	10.1371/journal.pone.0230534
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