scholarly journals A importância da Odontologia na assistência a indivíduos com defeitos congênitos

2021 ◽  
Vol 62 (1) ◽  
pp. 151-161
Author(s):  
Fernanda Diffini Santa Maria ◽  
Bibiana Mello De Oliveira ◽  
Lavinia Schuler-Faccini
Keyword(s):  
Birth Defects ◽  
Phenotypic Characterization ◽  
Congenital Defects ◽  
Practical Training ◽  
Craniofacial Malformations ◽  
Multiprofessional Team ◽  
Functional Changes ◽  
Genetic Features ◽  
Clinical Pictures ◽  
Craniofacial Defects

Introduction: Birth defects are structural or functional changes that occur during intrauterine life. The dentist must recognize the craniofacial defects, complement the phenotypic characterization and manage them within a multidisciplinary team. The present review aims to assist the dentist to diagnose these findings and present syndromic conditions typically associated with craniofacial malformations Literature Review: Craniofacial manifestations of birth defects are conditions that must be recognized by dentists, as they are frequently present in their daily practices, and this professional may be the first to identify such findings. The main syndromic clinical pictures typically associated with micrognathia, oral clefts and skeletal dysplasias with craniofacial manifestation are presented, pointing out their clinical and genetic features. Discussion: The dentist must perform a detailed anamnesis including family history, as well as should recognize both clinical and radiographically the dysmorphisms, observing the patient systemically. Conclusion: Dentistry professionals should receive theoretical-practical training for the diagnosis, treatment and surveillance of individuals with congenital defects, either in individual assessment or as part of a multiprofessional team.

scholarly journals Fetal Death Certificates as a Source of Surveillance Data for Stillbirths with Birth Defects

2007 ◽  
Vol 122 (5) ◽  
pp. 664-669 ◽  
Author(s):  
C. Wes Duke ◽  
C.J. Alverson ◽  
Adolfo Correa
Keyword(s):  
Birth Defects ◽  
Fetal Death ◽  
Population Based ◽  
Congenital Defects ◽  
Death Certificates ◽  
Case Identification ◽  
Linkage Rate ◽  
Recorded Data ◽  
Data Source

Objective. We assessed fetal death certificates (FDCs) as a source of surveillance for stillbirths with birth defects by linkage with data from the Metropolitan Atlanta Congenital Defects Program (MACDP), a population-based birth defects surveillance system. Methods. Stillbirths with defects in MACDP were identified from 1994 through 2002 and linked to FDCs. Sensitivity of FDCs for capturing stillbirths with defects was estimated, and predictors for a case being reported were assessed. Concordance for selected variables from each data source was evaluated. Results. Two hundred twenty-four of 257 stillbirths with birth defects in MACDP were linked to an FDC (linkage rate 5 87.2%; 95% confidence interval [CI] 82.4, 91.0). Stillbirths of non-Hispanic black and Hispanic/other mothers were more likely to be issued an FDC (odds ratio [OR] 5 5.6 [95% CI 1.9, 17.0] and 14.0 [95% CI 1.7, 114.0], respectively). Cases undergoing autopsy were more likely to be issued an FDC (OR53.2; 95% CI 1.1, 8.7). Performance of an amniocentesis was poorly recorded on FDCs. The sensitivity and positive predictive value of FDCs for selected classes of defects ranged from 10% to 70% and 25% to 93%, respectively. Conclusions. Compared to FDCs, MACDP's active case identification improves the ascertainment of stillbirths with birth defects and the quality of certain recorded data.

scholarly journals 74. Maternal Dolutegravir (DTG) Use During Pregnancy and Birth Outcomes: The Antiretroviral Pregnancy Registry (APR)

2021 ◽  
Vol 8 (Supplement_1) ◽  
pp. S48-S49
Author(s):  
Vani Vannappagari ◽  
Jessica Albano ◽  
Leigh Ragone ◽  
Taylor Cook ◽  
Angela Scheuerle ◽  
...  
Keyword(s):  
Birth Defects ◽  
Descriptive Analysis ◽  
The United States ◽  
Neonatal Outcomes ◽  
Congenital Defects ◽  
Think Tank ◽  
Research Support ◽  
Independent Contractor ◽  
Live Births ◽  
Increased Risk

Abstract Background The APR is prospective exposure-registration cohort study, monitoring for early warning signals of major teratogenic effects of antiretrovirals (ARV) used during pregnancy. This analysis aimed to assess maternal demographics, pregnancy and neonatal outcomes including birth defects among infants with periconception and prenatal exposure to DTG using APR data. Methods Descriptive analysis with frequency tabulation of pregnancy and neonatal outcomes is reported. Periconception is defined as any exposure within two weeks prior to or through 28 days after conception. Results There were 1010 prospectively reported pregnancies with exposure to DTG through 31January2021, with 526 periconception exposures, 105 exposed later during 1st trimester, 260 during 2nd trimester and 119 during 3rd trimester. Maternal median age at conception was 30 years and 77.0% of pregnancies were reported from the United States. At the time of reporting, 46.6% had CD4 count ≥500 cells/µL, 31.8% had 200-499 cells/µL, 12.5% had < 200 cells/µL and 9.1% unknown. The 1010 DTG exposed pregnancies resulted in 1036 outcomes: 956 (92.3%) live births (26 twin pairs), 12 (1.2%) stillbirths, 28 (2.7%) induced abortions, and 38 (3.7%) spontaneous abortions. Among live births, 39 (4.1%) reported birth defects. For 1st trimester exposures, overall defect prevalence was 3.3% (19/576, 95% CI:2.0-5.1) and for 2nd/3rd trimester exposures defect prevalence was 5.3% (20/380, 95% CI:3.2-8.0). One neural tube defect (NTD) case of anencephaly with periconception DTG exposure was reported. Among the 873 singleton, live births without birth defects, 92 (10.5%) were preterm (< 37 weeks of gestation); 103 (11.8%) had low birth weight (lbw) < 2500 grams including 22 (2.5%) < 1500 (very lbw) grams. Conclusion APR data do not demonstrate an increased risk of overall birth defects with DTG use above the population expected rate of defects (2.72 to 4.17 per 100 live births from Metropolitan Atlanta Congenital Defects Program [MACDP] and Texas Birth Defects Registry [TBDR] respectively). The number of periconception exposure outcomes is not yet sufficient to evaluate potential association of DTG with NTD. The Registry continues to closely monitor birth defects, including NTDs in pregnancies exposed to DTG and other integrase inhibitors. Disclosures Vani Vannappagari, MBBS, MPH, PhD, ViiV Healthcare Limited (Employee) Jessica Albano, PhD, MPH, Syneos Health (Employee, Shareholder) Leigh Ragone, MS, GlaxoSmithKline (Shareholder)ViiV Healthcare (Employee) Taylor Cook, BS, Syneos Health (Employee) Angela Scheuerle, MD, ViiV (Independent Contractor) William R. Short, MD, Gilead Sciences (Individual(s) Involved: Self): Consultant; ViiV (Individual(s) Involved: Self): Consultant Claire Thorne, MSc, PhD, MSD (Grant/Research Support)ViiV Healthcare (Grant/Research Support, Other Financial or Material Support, Contributor to Think Tank)

scholarly journals ANALYSIS OF CHD-7 DEFECTIVE DAUER NEMATODES IMPLICATES COLLAGEN MISREGULATION IN CHARGE SYNDROME FEATURES

2021 ◽  
Author(s):  
Diego Martín Jofré ◽  
Dane Kristian Hoffman ◽  
Ailen S. Cervino ◽  
McKenzie Grundy ◽  
Sijung Yun ◽  
...  
Keyword(s):  
Charge Syndrome ◽  
Mrna Levels ◽  
Craniofacial Malformations ◽  
Developmental Defects ◽  
The Public ◽  
Over Expression ◽  
C Elegans ◽  
Genetic Epistasis ◽  
Collagen Genes ◽  
Craniofacial Defects

ABSTRACTCHARGE syndrome is a complex developmental disorder caused by mutations in the chromodomain helicase DNA-binding protein7 (CHD7) and characterized by retarded growth and malformations in the heart and nervous system. However, despite the public health relevance of this disorder, relevant targets of CHD7 that relate to disease pathology are still poorly understood. Here we report thatchd-7, the nematode ortholog of CHD7, is required for dauer morphogenesis, lifespan determination, and stress response. Genetic epistasis placedchd-7in the TGF-β pathway. Consistent with our discoveries, we foundchd-7to be allelic toscd-3, a previously identified dauer suppressor from the TGF-β pathway. Interestingly, DAF-12 transcriptionally upregulatedchd-7, which is necessary to repressdaf-9for execution of the dauer program. Transcriptomic analysis comparingchd-7–defective and normal dauers showed enrichment of collagen genes, consistent with a conserved role for the TGF-β pathway in expression of the extracellular matrix. To validate a conserved function forchd-7in vertebrates, we usedXenopus laevisembryos, an established model to study craniofacial development. Morpholino mediated knockdown of Chd7 led to embryonic lethality, a reduction incol2a1mRNA levels and craniofacial defects in tadpoles. Both lethality and malformations were partially rescued in Chd7-depleted embryos by over-expression ofcol2a1. We suggest that pathogenic features of CHARGE syndrome caused by Chd7 mutations, such as craniofacial malformations, result from the reduction of collagen levels. These studies establishC. elegansas an amenable animal model to study the etiology of the developmental defects associated with pathogenic Chd7.

Birth Defects in Twins: Study in a Spanish Population

1991 ◽  
Vol 40 (3-4) ◽  
pp. 337-344 ◽  
Author(s):  
M.A. Ramos-Arroyo
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Birth Defects ◽  
Congenital Malformations ◽  
Collaborative Study ◽  
Congenital Defects ◽  
Relative Risks ◽  
Increased Risk ◽  
The Central Nervous System ◽  
Using Data

AbstractThe risk for specific defects among twins compared to singletons was studied using data collected by the Spanish Collaborative Study of Congenital Malformations (ECEMC). A total of 136 twins had a major and/or minor congenital defect. The overall rate of congenital defects in twins (2.37%) did not deviate significantly from the rate in singletons (2.21%). Like-sex (LS) and male-male (MM) twin pairs had a slightly higher rate of birth defects than unlike-sex (US) and female-female (FF) pairs, respectively. Defects of the central nervous system, cardiovascular system and genitourinary system were significantly more frequent in LS twins than in singletons, with relative risks of 2.8, 2.5 and 1.6, respectively. No significantly increased risk was found among US twins. Among defects of the central nervous system, the rates of anencephaly, encephalocele and hydrocephaly were significantly higher in total and LS twins; however, no significantly increased risk for spina bifida was observed when compared to singletons. MM twins were also 1.9 times more likely to have hypospadias, but the risk among males of male-female (FM) pairs was decreased.

scholarly journals Frequency of congenital craniofacial malformations in a Brazilian Reference Center

2011 ◽  
Vol 14 (1) ◽  
pp. 151-160 ◽  
Author(s):  
Lívia Máris Ribeiro Paranaíba ◽  
Roseli Teixeira de Miranda ◽  
Leila Aparecida Ribeiro ◽  
Letízia Monteiro de Barros ◽  
Hercílio Martelli-Júnior
Keyword(s):  
Birth Defects ◽  
Cleft Lip ◽  
Orofacial Cleft ◽  
Craniofacial Anomalies ◽  
Multiple Congenital Anomalies ◽  
Orofacial Clefts ◽  
Craniofacial Malformations ◽  
Reference Center ◽  
Factors Associated ◽  
Clinical Records

OBJECTIVE: To evaluate the frequency of craniofacial anomalies in patients treated at a Brazilian Reference Center for craniofacial deformities. METHOD: Retrospective epidemiological study evaluating the clinical records of 1,142 patients: 656 (57.4%) male and 486 (42.6%) female, between 1992 and 2008. RESULTS: Among birth defects, non-syndromic cleft lip and/or palate were the most frequent ones (778 cases; 68.1%), followed by single or multiple congenital anomalies without cleft lip and/or palate (240 cases; 21%), recognized syndromes or sequences (56 cases; 5%), syndromes with orofacial cleft as a component (41 cases; 3.5%), and orofacial clefts in association with systemic malformations (27 cases; 2.4%). CONCLUSIONS: Non-syndromic cleft lip and/or palate was the congenital defect most frequently identified, although, isolated anomalies and syndromes involving craniofacial structures were quite frequent. Furthermore, the need for studies to identify the frequency and risk factors associated with craniofacial anomalies in the Brazilian population is emphasized in order to plan comprehensive strategies and integrated actions for the development of preventive programs and treatment.

Structural Congenital Defects in Multiple Births

1994 ◽  
Vol 43 (1-2) ◽  
pp. 57-70 ◽  
Author(s):  
P. Mastroiacovo ◽  
L. Botto
Keyword(s):  
Birth Defects ◽  
Conjoined Twins ◽  
Morbidity And Mortality ◽  
Multiple Births ◽  
Structural Defects ◽  
Congenital Defects ◽  
Age Group ◽  
Pediatric Age Group ◽  
Increased Risk ◽  
Using Data

The prevalence of twinning and higher order multiple births is high and is increasing in many countries, due at least in part to fertility-enhancing medical therapies. About 1 in 40-45 births is a twin; it is thus important to investigate whether the twinning status confers a higher risk for morbidity and mortality, particularly early in life. Birth defects are a major cause of morbidity and mortality in the pediatric age-group. The purpose of this review is to consider the evidence for an increased risk of some birth defects associated with twinning, using data from the literature and the Italian Multicentre Birth Defects Registry (IPIMC), to illustrate some of the challenging aspects of the study of birth defects in twins, and to suggest some guidelines for future investigations.Twins are a heterogeneous group. They may differ in origin and genetic similarity, as for monozygotic (MZ) and dizygotic (DZ) twins; and in placentation (monochorial monoamniotic, monochorial diamniotic, dichorial with separate or fused placentae). Likewise, birth defects are known to be heterogeneous in presentation, pathogenesis, and etiology. Thus, the question raised here is not whether or not birth defects ‘in general’ are more common in twins, but rather whether or not there are any specific types of defects that are more frequent among specific types of twins. To maintain the generality of the discussion, this review will focus on those structural defects which are not unique to twins; conjoined twins and arcadia, defects which are unique to the twinning process, will not be discussed.

scholarly journals Neonatal Screening for Monogenic Inborn Pathology in Ukraine

2020 ◽  
Vol 5 (6) ◽  
pp. 292-298
Author(s):  
E. M. Omelchenko ◽  
O. O. Polka ◽  
L. A. Karamzina
Keyword(s):  
Risk Factors ◽  
Cystic Fibrosis ◽  
Birth Defects ◽  
Genetic Screening ◽  
Congenital Malformations ◽  
New Technologies ◽  
Genetic Load ◽  
Hereditary Diseases ◽  
Congenital Defects ◽  
Screening Programs

The International Clearinghouse for Surveillance and Research on Congenital Defects is collecting data from surveillance of birth defects and research programs around the world to investigate, prevent and mitigate birth defects. In Ukraine, data collection on the prevalence of congenital malformations is carried out by the national profile regulator – the Ministry of Health. There is a spectrum of risk factors that increase the prevalence of genetic birth defects leading to neonatal and infant mortality, mental retardation and lifelong disability. Screening programs, including neonatal genetic screening, help to avoid such risks. Such testing with a stable detection result is carried out only for 3 diseases: phenylketonuria, hypothyroidism, cystic fibrosis today in Ukraine. The purpose of the study was to evaluate the results of screening for monogenic pathology among newborns in Ukraine. Material and methods. The results of screening for hereditary pathology of newborns in Ukraine were evaluated over a 10-year period: from 2010 to 2019. The information base was the data of official medical statistics. Out of 4,308,100 live births, 9,199,817 newborns were covered by neonatal genetic screening. The presence of genetic pathology was identified and confirmed at 1313 children. Results and discussion. According to a group of researchers from the Wadsworth Center (New York, USA), the development of the science of newborn screening, especially with new technologies, providing new types of information (genetic and physiological) for each new condition, is possible only with pilot programs. During 2010-2019 in Ukraine neonatal genetic screening covered phenylketonuria in 89.56% of newborns, hypothyroidism in 84.43% of newborns, and cystic fibrosis in 39.55% of newborns. It is necessary to create a state program of mass examination for hereditary diseases that can be treated. The main purpose of such a program is to predict the dynamics of genetic load among the population to develop the necessary medical and social measures. A decrease in the number of births of children with congenital malformations is possible in the context of government programs aimed at reducing risk factors causing congenital anomalies, as well as taking preventive measures. The main goal of such a program is to predict the dynamics of the genetic load among the population in order to develop the necessary medical and social measures. Conclusion. In Ukraine today there are no targeted programs for comprehensive prevention of congenital pathology. Improvement of the situation is possible through the involvement of high technologies, allowing to expand the panel of genetic screening to start early treatment and reduce negative results. Genetic screening has been shown to be an effective tool for detecting congenital metabolic disorders

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