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1.
J Community Genet ; 15(4): 423-431, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38918275

RESUMO

Congenital anomalies (CAs) are an important cause of infant mortality and efficient surveillance is necessary for their prevention. Therefore, the objective of this study is to establish baselines of prevalence at birth of priority CAs for surveillance in the state of Santa Catarina, using data from the Live Birth Information System considering the period 2011-2019 (baseline) and 2020 (pandemic year). The analyses were carried out based on the mother's residence health macroregion. The CAs were selected following the ICD-10 coding for chapter XVII. Birth prevalence was calculated per 10,000 live births and the confidence interval was established at 95%. 2011-2019 recorded 88.8/10,000 births with CAs (total). For 2011-2019, limb defects (without polydactyly) were the most prevalent (14.1/10,000), followed by congenital heart defects (8.9), oral clefts (8.2), polydactyly (7.9), Down syndrome (5.6), hypospadias (5.4), neural tube defects (4.7), gastroschisis (3.3), undefined sex (1.2), microcephaly (0.8) and omphalocele (0.3). There were no significant differences in temporal and spatial distribution. However, unusual fluctuations were observed in 2020, which may reflect the pandemic in CAs notifications. In the base period, Santa Catarina recorded CAs below the expected level of being identified at birth. With this, we conclude that the training and awareness of teams are essential for the surveillance of CAs in Santa Catarina.

2.
JCEM Case Rep ; 2(6): luae100, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38933733

RESUMO

Isolated 17,20-lyase deficiency (ILD) is a partial form of 17α-hydroxylase/17,20-lyase deficiency that typically presents with infertility and lack of pubertal development. Successful live births have been achieved using assisted reproductive techniques. We present a case of spontaneous pregnancy in an 18-year-old female with ILD without reproduction treatments or glucocorticoid use. She presented to our clinic with absence of pubarche and oligomenorrhea and had typical external genitalia and complete breast development. Follicular phase progesterone and estradiol were within reference values, and androgen levels were undetectable. Corticosterone was increased, and cortisol responded partially to the ACTH-stimulation test. This profile raised a suspicion for ILD, which was confirmed by the finding of the homozygous p.R347H variant in the CYP17A1 gene. Sex steroid replacement and glucocorticoid use during stress were prescribed. She returned 2 years later 20 weeks pregnant. Her gestation was uneventful, and a full-term healthy male was born. This phenomenon could be partially explained by sufficient estrogen synthesis via residual 17,20-lyase enzymatic activity. Intermittent estradiol use may have favored uterine development and fine-tuned the pituitary-gonadal axis rhythm. Normal progesterone levels may have permitted an adequate endometrial "implantation window" without glucocorticoid use. Finally, elevated corticosterone may have compensated for the partial cortisol deficiency.

3.
Arch. latinoam. nutr ; 74(2): 74-82, jun. 2024. tab
Artigo em Inglês | LILACS, LIVECS | ID: biblio-1561530

RESUMO

Introduction: Child health is conditioned by the circumstances of pregnancy, childbirth, and early life. Objective: To describe the maternal and neonatal characteristics of live births (LBs) in the Information System on Live Births of Santa Catarina (SC), Brazil. Materials and methods: A cross-sectional study describedthe maternal and neonatal characteristics of 940,059 LBs, from 2010 to 2019. Pearson's chi-square test and Fisher's exact test were conducted, with a statistical significance level of p < 0.05. Results: The mean values of maternal age, number of live children, and number of fetal deaths as well as abortions were 27.1 years, 0.9, and 0.2, respectively. The averages of the number of gestation weeks, number of prenatal consultations, the start date of the prenatal care, and birth weight were 38.5 weeks, 8.1 months, 2.5 monthsand 3,217.1 grams, respectively. Low birth weight (LBW) was prevalent among mothers without education (p < 0.001), including those without prenatal visits (p < 0.001). A higher prevalence of being underweight was observed among female neonates (p < 0.001) and with a maternal age of ≥ 40 years (10.8%; p < 0.001) compared to newborns with good vitality. Newborns with good vitality had a low prevalence of underweight (p < 0.001). The frequency of the variables studied increased, comparing the beginning and end of the period and whether the differences are statistically significant. Conclusions: The study draws attention to the need for interventions to improve the indicators that determine LBW(AU)


Introducción: La salud infantil está condicionada por las circunstancias del embarazo, parto y primeras etapas de la vida. Objetivo: Describir las características maternas y neonatales de los nacidos vivos en el Sistema de Información de Nacidos Vivos de Santa Catarina, Brasil. Materiales y métodos: Estudio transversal describiendo las características maternas y neonatales de 940.059 nacidos vivos entre 2010 y 2019. Se realizó la prueba de chi cuadrado de Pearson y exacta de Fisher y se estableció p < 0,05. Resultados: Los valores medios para la edad materna, el número de nacidos vivos y el número de mortinatos y abortos espontáneos fueron 27,1, 0,9 y 0,2, respectivamente. Las medias del número de semanas de gestación, el número de visitas prenatales, la fecha de inicio de la atención prenatal y el peso al nacer fueron 38,5 semanas (DE 2,2), 8,1 meses, 2,5 meses y 3 217,1 gramos, respectivamente. El bajo peso al nacer (BPN) fue prevalente entre las madres sin estudios (p < 0,001), incluidas las que no acudieron a una cita prenatal (p < 0,001). Hubo una mayor prevalencia de BPN en neonatos de sexo femenino (p < 0,001) con madres de edad ≥ 40 años (10,8%; p < 0,001). Los neonatos con buena vitalidad tuvieron una baja prevalencia de BPN (p < 0,001). La frecuencia de las variables estudiadas aumentó al comparar el inicio y el final del período y si las diferencias son estadísticamente significativas. Conclusiones: El estudio llama la atención sobre la necesidad de intervenciones para mejorar los indicadores que determinan el BPN(AU)


Assuntos
Recém-Nascido , Recém-Nascido , Gravidez , Saúde da Criança , Idade Materna , Nascido Vivo , Serviços de Saúde da Criança
4.
JBRA Assist Reprod ; 28(2): 254-262, 2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38546118

RESUMO

OBJECTIVE: To evaluate the impact of possible maternal and paternal prognostic factors and ovarian stimulation protocols on clinical pregnancy and live birth rates in intrauterine insemination (IUI) cycles. METHODS: Retrospective observational study of 341 IUI cycles performed from January 2016 to November 2020 at the Assisted Reproduction Service of the Clinics Hospital of the Ribeirão Preto Medical School, University of São Paulo. Clinical pregnancy and live birth rates and their potential prognostic factors were evaluated. Wilcoxon's non-parametric test was used to compare quantitative variables, and the chi-square test to compare qualitative variables, adopting a significance level of p<0.05. A logistic regression model was performed to verify which exploratory variables are predictive factors for pregnancy outcome. RESULTS: The ovulation induction protocol using gonadotropins plus letrozole (p=0.0097; OR 4.3286, CI 1.3040 - 14.3684) and post-capacitation progressive sperm ≥ 5million/mL (p=0.0253) showed a statistically significant correlation with the live birth rate. Female and male age, etiology of infertility, obesity, multifollicular growth, endometrial thickness ≥ 7 mm, and time between human chorionic gonadotropin administration and IUI performance were not associated with the primary outcomes. In the group of patients with ideal characteristics (women aged< 40 years, BMI < 30 kg/m2, antral follicle count ≥ 5, partner aged< 45 years, and post-capacitation semen with progressive spermatozoa ≥ 5 million/mL), the rate of clinical pregnancy was 14.8%, while that of live birth, 9.9%. CONCLUSIONS: In this study, the ovulation induction protocol with gonadotropins plus letrozole and post-capacitation progressive sperm ≥ 5 million/mL were the only variables that significantly correlated with intrauterine insemination success.


Assuntos
Inseminação Artificial , Indução da Ovulação , Humanos , Feminino , Gravidez , Estudos Retrospectivos , Adulto , Masculino , Indução da Ovulação/métodos , Prognóstico , Inseminação Artificial/métodos , Taxa de Gravidez , Resultado da Gravidez/epidemiologia
5.
JBRA Assist Reprod ; 28(3): 399-404, 2024 Aug 26.
Artigo em Inglês | MEDLINE | ID: mdl-38546119

RESUMO

OBJECTIVE: To evaluate the impact of double embryo vitrification on clinical outcomes. METHODS: This retrospective cohort study included data from January 2013 to March 2021. The study group included women aged 33.3±5.7 years with double-vitrified embryos (n=381), while the control group included women aged 32.1±6.7 years with embryos vitrified once (n=780), all transferred at the blastocyst stage. The primary endpoint was live birth rate (LBR), and secondary endpoints included percent positive ßHCG test, clinical/ongoing pregnancy rates, miscarriage/biochemical pregnancy rates and birthweight. RESULTS: LBR was significantly lower in double-vitrified embryos (30.2%) than in embryos vitrified once (45.6%, p<.05). Similarly, double-vitrified embryos were associated with significantly lower positive ßHCG tests (46% vs. 63.3%, p<.05) and clinical (34.9% vs. 52.2%, p<.05) and ongoing pregnancy (31.3% vs. 47.3%, p<.05) rates compared to embryos vitrified once. However, biochemical pregnancy (double vitrified: 24.1% vs. vitrified once: 17.9%, p>.05) and miscarriage rates (double vitrified: 10.2% vs. vitrified once: 9.4%, p>.05), as well as mean birthweight (double-vitrified embryos: 2950g vs. embryos vitrified once: 2837g, p>.05) did not differ significantly between two groups. On a secondary comparison, amongst double-vitrified embryos, the subgroup that was cultured for more than 24 hours between warming and second vitrification achieved significantly higher positive ßHCG tests (49%) and clinical pregnancy (38%) rates, compared to embryos re-vitrified on the same day of warming (31.8% and 20.5%, respectively, p<.05). Nevertheless, LBR did not differ significantly amongst these study-group embryos (embryos that remained in culture for more than 24 hours: 32.2% vs. embryos that were re-vitrified on warming day: 20.5%, p>.05). CONCLUSIONS: Double vitrification of embryos adversely affects clinical outcomes. However, it represents a valuable option concerning embryo wastage, with acceptable success rates.


Assuntos
Criopreservação , Transferência Embrionária , Vitrificação , Humanos , Feminino , Gravidez , Estudos Retrospectivos , Adulto , Transferência Embrionária/métodos , Transferência Embrionária/estatística & dados numéricos , Resultado da Gravidez/epidemiologia , Taxa de Gravidez , Fertilização in vitro/métodos , Coeficiente de Natalidade , Nascido Vivo/epidemiologia
6.
Rev. chil. obstet. ginecol. (En línea) ; 89(1): 48-51, feb. 2024. ilus
Artigo em Espanhol | LILACS | ID: biblio-1559721

RESUMO

La anomalía de Ebstein es una cardiopatía congénita rara y poco frecuente caracterizada por el adosamiento de los velos valvulares tricuspídeos; en la etapa prenatal se estima que su incidencia corresponde a un 3% de todas las cardiopatías diagnosticadas. Se presenta el caso de un feto con diagnóstico de anomalía de Ebstein a quien se le realizó un diagnóstico prenatal adecuado, lo que permitió planificar el nacimiento neonatal con un equipo multidisciplinario integral. Debido a la rareza del diagnóstico prenatal de esta entidad, se describe el caso clínico y los hallazgos imagenológicos representativos.


Ebsteins anomaly is a rare and infrequent congenital heart disease characterized by the attachment of the tricuspid valve leaflets; in the prenatal stage it is estimated that its incidence corresponds to 3% of all diagnosed heart diseases. We present the case of a fetus diagnosed with Ebsteins anomaly who underwent an adequate prenatal diagnosis, which made it possible to plan the neonatal birth with a comprehensive multidisciplinary team. Due to the rarity of the prenatal diagnosis of this entity, the clinical case and the representative imaging findings are described.


Assuntos
Humanos , Masculino , Feminino , Gravidez , Recém-Nascido , Adolescente , Ecocardiografia , Anomalia de Ebstein/diagnóstico por imagem , Resultado da Gravidez , Ultrassonografia Pré-Natal , Conduta Expectante
7.
Ciênc. Saúde Colet. (Impr.) ; 29(9): e10582024, 2024. tab, graf
Artigo em Português | LILACS-Express | LILACS | ID: biblio-1569085

RESUMO

Resumo O objetivo foi analisar a distribuição espacial da gravidez em menores de 14 anos e seis meses segundo regiões e municípios brasileiros e características sociodemográficas e de saúde das parturientes e nascidos vivos. Estudo ecológico, analisando o Sistema de Informação sobre Nascidos Vivos (SINASC), 2011-2021, em três grupos etários (<14 anos e 6 meses, 15-19 e 20 anos e mais), segundo variáveis demográficas e do parto. Foram aplicados os Índices Global e Local de Moran. No período foram 127.022 nascidos vivos de meninas 10-14 anos, na maioria negras, 21,1% em união estável ou casadas, com menor proporção de 7 consultas de pré-natal e captação no primeiro trimestre, maior proporção de baixo peso ao nascer e baixo índice de Apgar, residentes nas regiões Norte e Nordeste. A taxa média de nascidos vivos de 10-14 anos mostrou autocorrelação significativa com o espaço, especialmente em municípios do Centro-Oeste e Norte. A gravidez de 10 a 14 revela uma sequência de vulnerabilidades sofridas por essas meninas, pela gravidez em idade precoce, maior frequência entre negras, com implicações na morbimortalidade para ela e seus filhos; e pela violência presumida nesses casos, incluindo o acesso negado ao aborto legal.


Abstract The objective was to analyze the spatial distribution of pregnancy in children under 14 years and six months by Brazilian region and municipality and sociodemographic and health characteristics of pregnant women and live births. Ecological study analyzing the Live Birth Information System (SINASC) from 2011 to 2021 in three age groups (< 14 years and six months, 15-19 years, and 20 years and above) by demographic and birth variables. We applied the Global and Local Moran. A total of 127,022 live births to girls aged 10-14 years were identified during the period, most of whom were Black, 21.1% in common-law or married relationships, with a lower proportion of seven prenatal care appointments and enrollment in the first trimester, a higher proportion of low birth weight and low Apgar score, residing in the North and Northeast. The mean live birth rate for 10-to-14-year-old girls was significantly autocorrelated with space, especially in municipalities of the Midwest and North. Pregnancy from 10 to 14 years of age reveals several vulnerabilities suffered by these girls due to pregnancy at an early age, which is more common among Black women, with implications for morbimortality for them and their children and the presumed violence in these cases, including denied access to legal abortion.

8.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1535419

RESUMO

Introducción: Las estadísticas vitales son fundamentales para conocer las condiciones de salud de la población y diseñar intervenciones. De su calidad depende la precisión y validez de las métricas derivadas y la relevancia de las decisiones de política pública. Objetivo: Evaluar la calidad de las estadísticas vitales de niños menores de cinco años en Colombia, entre 2000 y 2018. Métodos: Estudio descriptivo y exploratorio. Se analizó la calidad de los registros de nacidos vivos y defunciones publicados por el DANE, utilizando los criterios recomendados por las Naciones Unidas: exactitud (precisión), cobertura (compleción) y oportunidad. Resultados: Se encontraron registros de nacimientos y defunciones con datos perdidos en categorías que indican gradiente social. El 8,2 % de los registros de defunción tenían como causa básica de muerte códigos poco útiles para la toma de decisiones en salud pública. El 97,8 % de los nacidos vivos fueron registrados durante el mismo año de ocurrencia. El subregistro de la mortalidad infantil se estimó en un 28,9 %, con diferencias entre territorios. Conclusiones: La calidad de las estadísticas vitales en niños menores de cinco años de Colombia mejoró en los 19 años evaluados, en particular en exactitud y oportunidad. Sin embargo, persisten problemas en la asignación de la causa básica de muerte y en el subregistro, con diferencias importantes entre territorios. Mejorar la calidad del sistema de estadísticas vitales debe ser un imperativo ético, en especial para comprender las poblaciones de áreas geográficas históricamente invisibilizadas en el país.


Introduction: Vital statistics are essential to identify the health conditions of a population and design interventions. Vital statistics are essential to understand population health and design public health interventions. The accuracy and validity of the derived metrics and the relevance of public policy decisions depend on its quality. Objetive: To evaluate the quality of the vital statistics of children under five years of age in Colombia, between 2000 and 2018. Methods: A descriptive and exploratory study was carried out and the quality of records of live births and deaths published by DANE was analyzed using the criteria suggested by the United Nations: accuracy (precision), opportunity, and coverage (completeness). Results: Of the death records, 8.2% show codes useless for public health purposes as underlying cause of death. Of the live births, 97.8% were registered during the same year of occurrence. We estimated the underregistration of infant mortality at 28.9%, with differences between territories. Conclusions: The quality of vital statistics of children under five years of age has improved in Colombia in the 19 years analyzed, particularly in accuracy and opportunity. However, problems persist in assigning the underlying cause of death and in underregistration, with significant differences between territories. Improving the quality of the vital statistics system must be an ethical imperative, especially to understand the populations of geographic areas historically invisible in the country.

9.
JBRA Assist Reprod ; 2023 Nov 14.
Artigo em Inglês | MEDLINE | ID: mdl-37962971

RESUMO

OBJECTIVE: This study aimed to investigate whether hysteroscopy plus endometrial fundal incision (EFI) with endoscopic scissors can improve reproductive outcomes in oocyte recipients who have failed in their first egg donation cycle. METHODS: This was a prospective study (2014-2022) conducted in Assisting Nature Centre Reproduction and Genetics, Thessaloniki Greece, IVF Unit. The study population consisted of oocyte recipients with implantation failure in their first embryo transfer (ET) with donor eggs. All the recipients underwent routine evaluation during their early follicular phase, 1-3 months before the start of a new cycle with donor oocytes and were eligible to undergo EFI. RESULTS: During the study period, 218 egg recipients underwent egg donation; 126 out of 218 oocyte recipients (57.8%) did not achieve a live birth at the 1st ET. 109 of them had surplus embryos cryopreserved and underwent a second ET; 50 women consented for EFI. Both groups were similar in terms of age, years of infertility, duration of estrogen replacement protocol and number of transferred blastocysts (p>0.05). In the EFI group, 60% had normal intrauterine cavity, while 40% had minor anomalies. The pregnancy test was positive in 46% (n=23/50) in the EFI group compared with 27.1% (n=16/59) in the control group (p=0.04). Moreover, live birth rates were higher in the EFI group compared to the control group (38.0% vs. 20.3%; p=0.04). CONCLUSIONS: The findings of our study indicate that in oocyte recipients after implantation failure, diagnostic hysteroscopy plus EFI prior to subsequent ETmay increase pregnancy and live birth rates.

10.
Reprod Biomed Online ; 47(6): 103414, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37879123

RESUMO

RESEARCH QUESTION: Is endometriosis detrimental to embryo implantation? DESIGN: A retrospective matched case-control study of women with a surgical or ultrasound diagnosis of endometriosis at Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico di Milano between 2015 and 2021. Women with endometriosis who underwent a 'freeze-all' cycle during an IVF treatment were eligible to be included. They were matched to patients without the disease, who also underwent cryopreserved blastocyst transfer cycles, in a 1:1 ratio by age (±1 year), and number (=) and quality (±1 top versus low) of cryopreserved blastocysts. All women underwent single frozen embryo transfer, and assisted reproductive technology outcomes suggested by the Core Outcome Measure for Infertility Trials initiative were evaluated. The main outcome was the cumulative live birth rate per cycle. RESULTS: One hundred and one women with endometriosis and 101 matched unaffected women were included. Cumulative live birth rate per cycle did not vary between women with and without endometriosis (50% versus 58%, respectively; P = 0.32). On the basis of the Kaplan-Meier analysis, the predicted success rates over four embryos transferred were also similar (74% versus 82%, respectively; P = 0.67). CONCLUSION: In women with moderate or severe endometriosis, these retrospective results seem to indicate no or a limited effect of the disease on endometrial receptivity.


Assuntos
Endometriose , Gravidez , Humanos , Feminino , Taxa de Gravidez , Estudos Retrospectivos , Estudos de Casos e Controles , Nascido Vivo , Técnicas de Reprodução Assistida , Coeficiente de Natalidade , Fertilização in vitro
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