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Article ; Online: Neonatal anthropometry of malformed newborns: A large South American population-based study.

Heisecke, Silvina / Alfaro, Emma L / Martínez, Jorge / Figueroa, Marcelo / Bronberg, Rubén / Ratowiecki, Julia / López Camelo, Jorge S / Dipierri, José E

Paediatric and perinatal epidemiology

2022 Volume 36, Issue 2, Page(s) 211–219

Abstract: Background: Population-based anthropometric evaluation of malformed newborns is scarce.: Objectives: To evaluate malformed newborns' foetal growth using the ICD 10 malformations' classification.: Methods: A study including 33,769 newborns (14,857 ... ...

Abstract	Background: Population-based anthropometric evaluation of malformed newborns is scarce. Objectives: To evaluate malformed newborns' foetal growth using the ICD 10 malformations' classification. Methods: A study including 33,769 newborns (14,857 malformed and 18,912 nonmalformed), selected from 678,840 births from nine South American countries, period 2010-2018, was conducted. Prevalence of severe small and small for gestational age was calculated for malformed and nonmalformed newborns classified by preterm birth categories. Prevalence and relative risk (RR) with its 95% confidence interval (CI) were calculated. The associations between anthropometric phenotypes and congenital malformations were evaluated with generalized linear models. Results: Prevalence of preterm and term severe small and small for gestational age newborns was higher in malformed than that in nonmalformed neonates. For grouped ICD 10 malformations categories, the RR for severe small for gestational age was 2.88 (95% CI 2.51, 3.30) and 2.10 (95% CI 1.92, 2.30) for small for gestational age. For at-term and preterm malformed newborns, the RR for severe small for gestational age was 2.21 (95% CI 1.87, 2.61) and 3.21 (95% CI 2.52, 4.10), respectively; for small for gestational age, the RR was 2.31 (95% CI 2.11, 2.53) for at-term newborns and 2.58 (95% CI 2.16, 3.08) for preterm ones. Conclusions: Prevalence and relative risk of severe small and small for gestational age vary according to the group of malformations and gestational age; they increase in congenital malformations of the nervous, respiratory and digestive systems, and in chromosomal abnormalities and are lower for malformations of eye, ear, face and neck and cleft lip and palate. Foetal growth considered together with malformed newborns' gestational age would allow for inferring different risks of morbidity and mortality.
MeSH term(s)	Anthropometry ; Cleft Lip ; Cleft Palate ; Gestational Age ; Humans ; Infant, Newborn ; Infant, Small for Gestational Age ; Premature Birth
Language	English
Publishing date	2022-02-21
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	639089-4
ISSN	1365-3016 ; 0269-5022 ; 1353-663X
ISSN (online)	1365-3016
ISSN	0269-5022 ; 1353-663X
DOI	10.1111/ppe.12843
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Zs.A 2231: Show issues

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Article ; Online: Paternal age and risk for selected birth defects in a large South American sample.

Gili, Juan A / Rittler, Monica / Heisecke, Silvina / Campaña, Hebe / Giménez, Lucas / Santos, María Rita / Ratowiecki, Julia / Cosentino, Viviana / López Camelo, Jorge / Poletta, Fernando A

Birth defects research

2023 Volume 115, Issue 19, Page(s) 1866–1875

Abstract: Background: The relationship between maternal age (MA) and birth defects (BD) has been extensively studied while much less research, mostly with discordant results, has focused on the risk of paternal age (PA) for BD. Furthermore, no consensus has been ... ...

Abstract	Background: The relationship between maternal age (MA) and birth defects (BD) has been extensively studied while much less research, mostly with discordant results, has focused on the risk of paternal age (PA) for BD. Furthermore, no consensus has been reached on the best way to control the association of PA with MA. Objectives: The aim of the study was to evaluate the risk of PA increase, at 1-year intervals, for selected BD, especially controlling for the confounding effect of MA. Methods: The sample comprised of 27,944 liveborns presenting 1 of 18 selected isolated BD. Conditional logistic regressions were applied to evaluate the risk of advanced PA and its yearly increase, adjusting by MA and other variables. Results: Of the 18 analyzed BD, only the risk for preaxial polydactyly (PreP) showed a significant association with increasing PA, while advanced MA was of low risk. For esophageal and anal atresia, associations with both PA and MA increases were observed. Conclusions: Results support the hypothesis of advanced PA as a risk factor for PreP and helps clarify the so far unexplained nonrandom association between this defect and Down syndrome.
MeSH term(s)	Humans ; Male ; Anus, Imperforate/epidemiology ; Paternal Age ; Risk Factors ; South America/epidemiology ; Polydactyly/epidemiology
Language	English
Publishing date	2023-09-20
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2104792-3
ISSN	2472-1727
ISSN (online)	2472-1727
DOI	10.1002/bdr2.2252
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Article: Genetic and phenotypic variability of iris color in Buenos Aires population.

Hohl, Diana María / Bezus, Brenda / Ratowiecki, Julia / Catanesi, Cecilia Inés

Genetics and molecular biology

2018 Volume 41, Issue 1, Page(s) 50–58

Abstract: The aim of this work was to describe the phenotypic and genotypic variability related to iris color for the population of Buenos Aires province (Argentina), and to assess the usefulness of current methods of analysis for this country. We studied five ... ...

Abstract	The aim of this work was to describe the phenotypic and genotypic variability related to iris color for the population of Buenos Aires province (Argentina), and to assess the usefulness of current methods of analysis for this country. We studied five Single Nucleotide Polymorphisms (SNPs) included in the IrisPlex kit, in 118 individuals, and we quantified eye color with Digital Iris Analysis Tool. The markers fit Hardy-Weinberg equilibrium for the whole sample, but not for rs12913832 within the group of brown eyes (LR=8.429; p=0.004). We found a remarkable association of HERC2 rs12913832 GG with blue color (p < 0.01) but the other markers did not show any association with iris color. The results for the Buenos Aires population differ from those of other populations of the world for these polymorphisms (p < 0,01). The differences we found might respond to the admixed ethnic composition of Argentina; therefore, methods of analysis used in European populations should be carefully applied when studying the population of Argentina. These findings reaffirm the importance of this investigation in the Argentinian population for people identification based on iris color.
Language	English
Publishing date	2018-03-26
Publishing country	Brazil
Document type	Journal Article
ZDB-ID	1445712-x
ISSN	1678-4685 ; 1415-4757
ISSN (online)	1678-4685
ISSN	1415-4757
DOI	10.1590/1678-4685-GMB-2017-0175
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Article: Gene-environment interactions and preterm birth predictors: A Bayesian network approach.

Elias, Dario E / Santos, Maria R / Campaña, Hebe / Poletta, Fernando A / Heisecke, Silvina L / Gili, Juan A / Ratowiecki, Julia / Cosentino, Viviana R / Uranga, Rocio / Málaga, Diana Rojas / Oliveira Netto, Alice Brinckmann / Brusius-Facchin, Ana Carolina / Saleme, César / Rittler, Mónica / Krupitzki, Hugo B / Camelo, Jorge S Lopez / Gimenez, Lucas G

Genetics and molecular biology

2024 Volume 46, Issue 4, Page(s) e20230090

Abstract: Preterm birth (PTB) is the main condition related to perinatal morbimortality worldwide. The aim of this study was to identify gene-environment interactions associated with spontaneous PTB or its predictors. We carried out a retrospective case-control ... ...

Abstract	Preterm birth (PTB) is the main condition related to perinatal morbimortality worldwide. The aim of this study was to identify gene-environment interactions associated with spontaneous PTB or its predictors. We carried out a retrospective case-control study including parental sociodemographic and obstetric data as well as newborn genetic variants of 69 preterm and 61 at term newborns born at a maternity hospital from Tucumán, Argentina, between 2005 and 2010. A data-driven Bayesian network including the main PTB predictors was created where we identified gene-environment interactions. We used logistic regressions to calculate the odds ratios and confidence intervals of the interactions. From the main PTB predictors (nine exposures and six genetic variants) we identified an interaction between low neighbourhood socioeconomic status and rs2074351 (PON1, genotype GG) variant that was associated with an increased risk of toxoplasmosis (odds ratio 12.51, confidence interval 95%: 1.71 - 91.36). The results of this exploratory study suggest that structural social disparities could influence the PTB risk by increasing the frequency of exposures that potentiate the risk associated with individual characteristics such as genetic traits. Future studies with larger sample sizes are necessary to confirm these findings.
Language	English
Publishing date	2024-01-19
Publishing country	Brazil
Document type	Journal Article
ZDB-ID	1445712-x
ISSN	1678-4685 ; 1415-4757
ISSN (online)	1678-4685
ISSN	1415-4757
DOI	10.1590/1678-4685-GMB-2023-0090
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Article ; Online: Genetic susceptibility for retinopathy of prematurity and its associated comorbidities.

Gimenez, Lucas G / Gili, Juan A / Elias, Darío E / Sagula, Rubén / Comas, Belén / Santos, María R / Campaña, Hebe / Poletta, Fernando A / Heisecke, Silvina L / Ratowiecki, Julia / Cosentino, Viviana R / Uranga, Rocío / Saleme, César / Negri, Mercedes / Rittler, Mónica / Zapata Barrios, Jorge / Krupitzki, Hugo B / López Camelo, Jorge S

Pediatric research

2024

Abstract: Background: Retinopathy of prematurity (ROP) is one of the leading cause of child blindness. Preterm newborns of very low gestational age (GA) and very low birth weight are at the greatest risk. Our objective was to evaluate the role of genetic variants ...

Abstract	Background: Retinopathy of prematurity (ROP) is one of the leading cause of child blindness. Preterm newborns of very low gestational age (GA) and very low birth weight are at the greatest risk. Our objective was to evaluate the role of genetic variants associated with ROP risk and its comorbidities in an Argentinian sample of premature infants. Methods: A sample of 437 preterm infants <33 weeks GA, born at a maternity hospital in Tucumán, Argentina, 2005-2010, was analyzed. Environmental factors, perinatal outcomes, and fourteen single nucleotide polymorphisms associated with ROP were evaluated, comparing ROP with non-ROP newborns. A lasso logistic regression was performed to select variables; then, a conditional logistic regression was used to identify ROP maternal and perinatal risk factors adjusting by maternal and gestational ages, respectively. Results: ROP maternal risk factors were alcohol intake, periodontal infections, and severe stress. Respiratory distress, sepsis, and intracranial hemorrhage were the ROP perinatal risk factors. Markers rs186085 of EPAS1 and rs427832 of AGTR1 were significantly associated with ROP newborns. Conclusion: We identified three maternal and three perinatal risk factors associated with ROP. Genes EPAS1 and AGTR1, involved in angiogenesis and vascularization, were identified to be of risk for ROP. Impact: Genetic and environmental risk factors associated with ROP and its comorbidities are evaluated in a Latin American population. Genes EPAS1 and AGTR1, involved in angiogenesis and vascularization, were identified to be of risk for ROP. Three maternal and three perinatal risk factors associated with ROP were also identified. A matrix of significant relationships among genetic markers and comorbidities is presented. Reported data may help develop more effective preventive measures for ROP in the Latin American region.
Language	English
Publishing date	2024-02-12
Publishing country	United States
Document type	Journal Article
ZDB-ID	4411-8
ISSN	1530-0447 ; 0031-3998
ISSN (online)	1530-0447
ISSN	0031-3998
DOI	10.1038/s41390-024-03068-9
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Zs.A 564: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Diseases during pregnancy in a large unselected South American sample.

Santos, María Rita / Campaña, Hebe / Heisecke, Silvina / Ratowiecki, Julia / Elías, Darío / Giménez, Lucas / Poletta, Fernando Adrián / Gili, Juan / Uranga, Rocío / Cosentino, Viviana / Krupitzki, Hugo / Rittler, Mónica / Camelo, Jorge López

Revista brasileira de epidemiologia = Brazilian journal of epidemiology

2022 Volume 25, Page(s) e220043

Abstract: Objective: Our aim was to describe the prevalence of diseases during pregnancy and the association between fetal exposure to the most frequent maternal diseases and the risk of preterm (PTB) and/or small for gestational age (SGA) newborns in an ... ...

Abstract	Objective: Our aim was to describe the prevalence of diseases during pregnancy and the association between fetal exposure to the most frequent maternal diseases and the risk of preterm (PTB) and/or small for gestational age (SGA) newborns in an unselected sample of women who gave birth in South American countries. Methods: We conducted a descriptive, cross-sectional study including 56,232 mothers of non-malformed infants born between 2002 and 2016, using data from the Latin American Collaborative Study of Congenital Malformations (ECLAMC). Diseases with higher- than-expected PTB/SGA frequencies were identified. Odds ratios of confounding variables for diseases and birth outcomes were calculated with a multivariable logistic regression. Results: Of the 14 most reported diseases, hypertension, genitourinary infection, epilepsy, hypothyroidism, diabetes, and HIV/AIDS showed higher PTB and/or SGA frequencies. Advanced and low maternal age, previous fetal loss, low socioeconomic level, and African-American ancestry were associated with PTB, while advanced maternal age, primigravidity, previous fetal loss, low socioeconomic level, and African-American ancestry were associated with SGA. After adjusting for the associated variables, the identified illnesses maintained their association with PTB and all, except epilepsy, with SGA. Conclusion: The description of an unselected population of mothers allowed identifying the most frequent diseases occurring during gestation and their impact on pregnancy outcomes. Six diseases were associated with PTB and two with SGA newborns. To the best of our knowledge, there are no similar reports about women not intentionally selected by specific diseases during pregnancy in South American populations.
MeSH term(s)	Infant, Newborn ; Female ; Humans ; Pregnancy ; Cross-Sectional Studies ; Brazil
Language	English
Publishing date	2022-12-05
Publishing country	Brazil
Document type	Journal Article
ZDB-ID	2183366-7
ISSN	1980-5497 ; 1980-5497
ISSN (online)	1980-5497
ISSN	1980-5497
DOI	10.1590/1980-549720220043
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Article ; Online: Lethality of Birth Defects in Live Born Infants Categorized by Gestational Age and Birth Weight.

Rittler, Monica / Campaña, Hebe / Heisecke, Silvina / Ratowiecki, Julia / Elias, Dario / Gimenez, Lucas / Poletta, Fernando A / Gili, Juan / Pawluk, Mariela / Santos, Maria Rita / Uranga, Rocio / Cosentino, Viviana / Camelo, Jorge Lopez

American journal of perinatology

2021 Volume 40, Issue 13, Page(s) 1406–1412

Abstract: Objective: This study aimed to describe lethality of birth defects (BDs) in newborns categorized by gestational age and birth weight and to identify BDs associated with prematurity.: Study design: Live born infants (: Results: Overall fewer ... ...

Abstract	Objective: This study aimed to describe lethality of birth defects (BDs) in newborns categorized by gestational age and birth weight and to identify BDs associated with prematurity. Study design: Live born infants ( Results: Overall fewer malformed than nonmalformed infants were of adequate growth, while the opposite occurred in the preterm and SGA categories where gastroschisis and esophageal atresia were among the most outstanding defects. For most severe BDs, the early neonatal death rate was higher than control values in all categories; for mild defects, except cleft lip in the preterm category, they did not differ. Diaphragmatic hernia showed the highest lethality values, while those of spina bifida were among the lowest. Talipes, hypospadias, and septal heart defects were mild defects significantly associated with prematurity. Conclusion: Although reasons, such as induced preterm delivery of fetuses with certain anomalies, could partially account for their high prematurity rates, susceptibility to preterm birth might exist through underlying mechanisms related with the defects. The identification of BDs associated with prematurity should serve to improve measures that prevent preterm birth especially of fetuses at risk. Key points: · Some BDs predispose to prematurity.. · Prematurity is an additional risk factor for mortality in infants with mild defects.. · Lethality values should be adjusted by gestational age and birth weight..
MeSH term(s)	Male ; Female ; Infant, Newborn ; Infant ; Humans ; Pregnancy ; Birth Weight ; Gestational Age ; Premature Birth ; Infant, Premature ; Infant, Small for Gestational Age ; Fetal Growth Retardation
Language	English
Publishing date	2021-10-11
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	605671-4
ISSN	1098-8785 ; 0735-1631
ISSN (online)	1098-8785
ISSN	0735-1631
DOI	10.1055/s-0041-1735867
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Article: Genes, exposures, and interactions on preterm birth risk: an exploratory study in an Argentine population.

Elias, Dario E / Santos, Maria R / Campaña, Hebe / Poletta, Fernando A / Heisecke, Silvina L / Gili, Juan A / Ratowiecki, Julia / Cosentino, Viviana / Uranga, Rocio / Málaga, Diana Rojas / Netto, Alice Brinckmann Oliveira / Brusius-Facchin, Ana Carolina / Saleme, César / Rittler, Mónica / Krupitzki, Hugo B / Camelo, Jorge S Lopez / Gimenez, Lucas G

Journal of community genetics

2022 Volume 13, Issue 6, Page(s) 557–565

Abstract: Preterm birth (PTB) is the main condition related to perinatal morbimortality worldwide. The aim of this study was to identify associations of spontaneous PTB with genetic variants, exposures, and interactions between and within them. We carried out a ... ...

Abstract	Preterm birth (PTB) is the main condition related to perinatal morbimortality worldwide. The aim of this study was to identify associations of spontaneous PTB with genetic variants, exposures, and interactions between and within them. We carried out a retrospective case-control study including parental sociodemographic and obstetric data, and fetal genetic variants. We sequenced the coding and flanking regions of five candidate genes from the placental blood cord of 69 preterm newborns and 61 at term newborns. We identify the characteristics with the greatest predictive power of PTB using penalized regressions, in which we include exposures (E), genetic variants (G), and two-way interactions. Few prenatal visits (< 5) was the main predictor of PTB from 26 G, 35 E, 299 G × G, 564 E × E, and 875 G × E evaluated terms. Within the fetal genetic characteristics, we observed associations of rs4845397 (KCNN3, allele T) variant; G × G interaction between rs12621551 (COL4A3, allele T) and rs73993878 (COL4A3, allele A), which showed sensitivity to anemia; and G × G interaction between rs11680670 (COL4A3, allele T) and rs2074351 (PON1, allele A), which showed sensitivity to vaginal discharge. The results of this exploratory study suggest that social disparities and metabolic pathways linked to uterine relaxation, inflammation/infections, and collagen metabolism would be involved in PTB etiology. Future studies with a larger sample size are necessary to confirm these findings and to analyze a greater number of exposures.
Language	English
Publishing date	2022-08-17
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/s12687-022-00605-z
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Article ; Online: Inequidades sociales en madres adolescentes y la relación con resultados perinatales adversos en poblaciones sudamericanas.

Ratowiecki, Julia / Santos, María Rita / Poletta, Fernando / Heisecke, Silvina / Elias, Dario / Gili, Juan / Gimenez, Lucas / Pawluk, Mariela / Uranga, Rocio / Cosentino, Viviana / Campaña, Hebe / Rittler, Mónica / Camelo, Jorge S López

Cadernos de saude publica

2021 Volume 36, Issue 12, Page(s) e00247719

Abstract: The aim was to explain differences in the rates of adverse perinatal events in teenage mothers with low and high schooling. The sample was collected from the Latin American Colaborative Study of Congenital Malformations (ECLAMC) database. From a total of ...

Title translation	Social inequities in teenage mothers and the relationship to adverse perinatal outcomes in South American populations.
Abstract	The aim was to explain differences in the rates of adverse perinatal events in teenage mothers with low and high schooling. The sample was collected from the Latin American Colaborative Study of Congenital Malformations (ECLAMC) database. From a total of 2,443,747 births in 93 hospitals, 66,755 live newborns without congenital malformations were recruited from 2000 to 2017. Teenage mothers were classified according to low, medium, and high schooling. A multivariate model was used that included reproductive history, access to health services, demographic and socioeconomic variables, and ethnic group. The Fairlie decomposition model was applied to quantify the contribution of explanatory variables to the adverse perinatal event rates. Of the 66,755 newborns analyzed, 21.1% (n = 14,078) were born to teenage mothers. Distribution of maternal schooling was 24.2%, 59.8%, and 16% for low, medium, and high schooling, respectively. The highest rates of adverse perinatal events were seen in teenage mothers with low schooling. The variable "access to health services" explained 35%, 37%, and 23% of the disparities in low birthweight, prematurity, and intrauterine growth restriction, respectively, among teenage mother with low and high schooling. Low number of prenatal visits was the only risk factor for the two levels of schooling and the variable that best explained the differences between the rates of adverse perinatal events. From the public health perspective, prenatal care represents a low-cost intervention with the possibility of increased implementation through adequate information for the population and systematic measures in primary care.
MeSH term(s)	Adolescent ; Brazil/epidemiology ; Female ; Humans ; Infant, Low Birth Weight ; Infant, Newborn ; Mothers ; Pregnancy ; Pregnancy Outcome/epidemiology ; Pregnancy in Adolescence ; Prenatal Care
Language	Spanish
Publishing date	2021-01-11
Publishing country	Brazil
Document type	Journal Article
ZDB-ID	1115730-6
ISSN	1678-4464 ; 0102-311X
ISSN (online)	1678-4464
ISSN	0102-311X
DOI	10.1590/0102-311X00247719
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Article ; Online: Prevalence of low birth weight in a scenario of economic depression in Argentina.

Ratowiecki, Julia / Poletta, Fernando A / Giménez, Lucas G / Gili, Juan A / Pawluk, Mariela S / López Camelo, Jorge S

Archivos argentinos de pediatria

2018 Volume 116, Issue 5, Page(s) 322–327

Abstract: Introduction: Low birth weight (LBW) is considered a general indicator of health because it is related to complications in the life of a newborn infant and is one of the leading causes of infant mortality. It is a multifactorial indicator, and its ... ...

Title translation	Prevalencia del bajo peso al nacer en un escenario de depresión económica en Argentina.
Abstract	Introduction: Low birth weight (LBW) is considered a general indicator of health because it is related to complications in the life of a newborn infant and is one of the leading causes of infant mortality. It is a multifactorial indicator, and its determinants include socioeconomic factors. Objective: To assess the impact of economic inequality on the prevalence of LBW by quantifying its differential effect by maternal age, level of maternal education, and level of care. Population and methods: Epidemiological, cross-sectional study that analyzed all births occurred in Argentina between 2001 and 2013 based on data provided by the National Registry of births, corresponding to the Health Statistics and Information Department. The temporal variation in the prevalence of LBW newborn infants (< 2500 grams) and its relation to demographic and socioeconomic indicators were studied. Its association was assessed using logistic regression models. Results: A total of 9 001 960births were included. The prevalence of LBW newborn infants during the 2001 economic crisis increased -6% in 2002 and 7% in 2003- The impact was heterogeneous and higher on public hospitals (\|-1;PR\|-3; = 1.03) and adolescent mothers (PR=1.07), but no impact was observed on a low level of maternal education (PR= 0.99). Conclusions: The impact of socioeconomic inequality on the prevalence of LBW was significant and heterogeneous, especially on public hospitals and mothers at the extremes of maternal age.
MeSH term(s)	Adolescent ; Adult ; Argentina/epidemiology ; Child ; Cross-Sectional Studies ; Economic Recession ; Educational Status ; Female ; Humans ; Infant, Low Birth Weight ; Infant, Newborn ; Logistic Models ; Maternal Age ; Middle Aged ; Mothers/statistics & numerical data ; Pregnancy ; Prevalence ; Registries ; Risk Factors ; Socioeconomic Factors ; Young Adult
Language	Spanish
Publishing date	2018-09-08
Publishing country	Argentina
Document type	Journal Article
ZDB-ID	424449-7
ISSN	1668-3501 ; 0325-0075 ; 0004-0487
ISSN (online)	1668-3501
ISSN	0325-0075 ; 0004-0487
DOI	10.5546/aap.2018.eng.322
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