RESUMO
OBJECTIVE: To describe trends in delayed diagnosis of critical congenital heart defects (CCHDs) with prenatal and postnatal screening advances. STUDY DESIGN: We evaluated a retrospective cohort of live births with CCHD delivered between 2004 and 2018 from a statewide, population-based birth defects surveillance system in Massachusetts. Demographic information were obtained from vital records. We estimated timely (prenatal or birth/transfer hospital) and delayed diagnosis (after discharge) proportions by year and time periods coinciding with the transition to mandatory pulse oximetry in 2015. RESULTS: We identified 1524 eligible CCHD cases among 1â087â027 live births. By 2018, 92% of cases received a timely diagnosis, most prenatally. From 2004 to 2018, prenatal diagnosis increased from 46% to 76% of cases, while hospital diagnosis decreased from 38% to 17%, and delayed diagnosis declined from 16% to 7%. These trends were consistent across all characteristics evaluated. Among cases without a prenatal diagnosis, the proportion with delayed diagnosis did not change over time, even after implementation of mandatory pulse oximetry screening. Prenatal detection increased the most among severe cases (treated or died in first month of life). Well-appearing newborns without prenatal diagnosis made up 79% of delayed diagnosis cases by 2015-2018. Delayed diagnosis was most common for coarctation. CONCLUSIONS: While prenatal diagnosis of CCHD increased dramatically, there was no reduction in delayed diagnosis among postnatally diagnosed infants, even after pulse oximetry screening became mandatory. Pulse oximetry may not reduce delayed diagnosis in settings with high prenatal detection, and other strategies are needed to ensure timely diagnosis of well-appearing newborns.
Assuntos
Diagnóstico Tardio , Cardiopatias Congênitas , Lactente , Gravidez , Feminino , Recém-Nascido , Humanos , Estudos Retrospectivos , Triagem Neonatal , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/epidemiologia , Diagnóstico Pré-Natal , OximetriaRESUMO
The lack of United States population-based data on Turner syndrome limits assessments of prevalence and associated characteristics for this sex chromosome abnormality. Therefore, we collated 2000-2017 data from seven birth defects surveillance programs within the National Birth Defects Prevention Network. We estimated the prevalence of karyotype-confirmed Turner syndrome diagnosed within the first year of life. We also calculated the proportion of cases with commonly ascertained birth defects, assessed associations with maternal and infant characteristics using prevalence ratios (PR) with 95% confidence intervals (CI), and estimated survival probability. The prevalence of Turner syndrome of any pregnancy outcome was 3.2 per 10,000 female live births (95% CI = 3.0-3.3, program range: 1.0-10.4), and 1.9 for live birth and stillbirth (≥20 weeks gestation) cases (95% CI = 1.8-2.1, program range: 0.2-3.9). Prevalence was lowest among cases born to non-Hispanic Black women compared to non-Hispanic White women (PR = 0.5, 95% CI = 0.4-0.6). Coarctation of the aorta was the most common defect (11.6% of cases), and across the cohort, individuals without hypoplastic left heart had a five-year survival probability of 94.6%. The findings from this population-based study may inform surveillance practices, prenatal counseling, and diagnosis. We also identified racial and ethnic disparities in prevalence, an observation that warrants further investigation.
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Coartação Aórtica , Síndrome de Turner , Lactente , Feminino , Gravidez , Humanos , Estados Unidos/epidemiologia , Síndrome de Turner/epidemiologia , Síndrome de Turner/genética , Prevalência , Coartação Aórtica/epidemiologia , Etnicidade , Grupos RaciaisRESUMO
Zika virus infection during pregnancy can cause serious brain abnormalities, but the full range of adverse outcomes is unknown (1). To better understand the impact of birth defects resulting from Zika virus infection, the CDC surveillance case definition established in 2016 for birth defects potentially related to Zika virus infection* (2) was retrospectively applied to population-based birth defects surveillance data collected during 2013-2014 in three areas before the introduction of Zika virus (the pre-Zika years) into the World Health Organization's Region of the Americas (Americas) (3). These data, from Massachusetts (2013), North Carolina (2013), and Atlanta, Georgia (2013-2014), included 747 infants and fetuses with one or more of the birth defects meeting the case definition (pre-Zika prevalence = 2.86 per 1,000 live births). Brain abnormalities or microcephaly were the most frequently recorded (1.50 per 1,000), followed by neural tube defects and other early brain malformations (0.88), eye abnormalities without mention of a brain abnormality (0.31), and other consequences of central nervous system (CNS) dysfunction without mention of brain or eye abnormalities (0.17). During January 15-September 22, 2016, the U.S. Zika Pregnancy Registry (USZPR) reported 26 infants and fetuses with these same defects among 442 completed pregnancies (58.8 per 1,000) born to mothers with laboratory evidence of possible Zika virus infection during pregnancy (2). Although the ascertainment methods differed, this finding was approximately 20 times higher than the proportion of one or more of the same birth defects among pregnancies during the pre-Zika years. These data demonstrate the importance of population-based surveillance for interpreting data about birth defects potentially related to Zika virus infection.
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Anormalidades Congênitas/epidemiologia , Vigilância da População , Infecção por Zika virus/congênito , Adulto , Anormalidades Congênitas/virologia , Feminino , Georgia/epidemiologia , Humanos , Lactente , Recém-Nascido , Massachusetts/epidemiologia , North Carolina/epidemiologia , Gravidez , Complicações Infecciosas na Gravidez , Prevalência , Estudos RetrospectivosRESUMO
BACKGROUND: Congenital microcephaly has been linked to maternal Zika virus infection. However, ascertaining infants diagnosed with microcephaly can be challenging. METHODS: Thirty birth defects surveillance programs provided data on infants diagnosed with microcephaly born 2009 to 2013. The pooled prevalence of microcephaly per 10,000 live births was estimated overall and by maternal/infant characteristics. Variation in prevalence was examined across case finding methods. Nine programs provided data on head circumference and conditions potentially contributing to microcephaly. RESULTS: The pooled prevalence of microcephaly was 8.7 per 10,000 live births. Median prevalence (per 10,000 live births) was similar among programs using active (6.7) and passive (6.6) methods; the interdecile range of prevalence estimates was wider among programs using passive methods for all race/ethnicity categories except Hispanic. Prevalence (per 10,000 live births) was lowest among non-Hispanic Whites (6.5) and highest among non-Hispanic Blacks and Hispanics (11.2 and 11.9, respectively); estimates followed a U-shaped distribution by maternal age with the highest prevalence among mothers <20 years (11.5) and ≥40 years (13.2). For gestational age and birth weight, the highest prevalence was among infants <32 weeks gestation and infants <1500 gm. Case definitions varied; 41.8% of cases had an HC ≥ the 10th percentile for sex and gestational age. CONCLUSION: Differences in methods, population distribution of maternal/infant characteristics, and case definitions for microcephaly can contribute to the wide range of observed prevalence estimates across individual birth defects surveillance programs. Addressing these factors in the setting of Zika virus infection can improve the quality of prevalence estimates. Birth Defects Research (Part A) 106:972-982, 2016. © 2016 Wiley Periodicals, Inc.
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Monitoramento Epidemiológico , Microcefalia/epidemiologia , Infecção por Zika virus/epidemiologia , Zika virus , Feminino , Humanos , Recém-Nascido , Masculino , Prevalência , Estudos Retrospectivos , Estados Unidos/epidemiologiaRESUMO
BACKGROUND: Birth defects affect 1 in 33 infants in the United States and are a leading cause of infant mortality. Birth defects surveillance is crucial for informing public health action. The Massachusetts Birth Defects Monitoring Program (MBDMP) began collecting other pregnancy losses (OPLs) in 2011, including miscarriages (<20 weeks gestation) or elective terminations (any gestational age), in addition to live births and stillbirths (≥20 weeks gestation). We describe programmatic changes for adding OPLs and their impact on prevalence estimates. METHODS: Using population-based, statewide, data from the MBDMP (2012-2020), we assessed prevalence per 10,000 live births and 95% confidence intervals (CIs) with and without OPLs overall and for specific birth defects by time period, maternal age, and race/ethnicity. RESULTS: Including OPLs required amending a state statute and promulgating regulations, new data sources, and additional data processing, cleaning, and verification. Overall prevalence with OPLs increased from 257.4 (95% CI: 253.5-261.4) to 333.9 (95% CI: 329.4-338.4) per 10,000; increases were observed in all time periods, age, and race/ethnicity groups. After including OPLs, the prevalence increased for neural tube defects [3.2 (2.7-3.6) to 8.3 (7.6-9.0)], and trisomies 13 [0.5 (0.3-0.7) to 4.1 (3.6-4.6)], 18 [1.5 (1.2-1.9) to 8.2 (7.5-8.9)], and 21 [12.3 (11.4-13.2) to 28.9 (27.6-30.2)]. Cardiovascular defects increased slightly, while prevalence of eye/ear, respiratory, and gastrointestinal defects remained similar. CONCLUSIONS: Adding OPLs required substantial programmatic efforts and resulted in more complete case ascertainment, particularly for certain birth defects. More complete case ascertainment will allow for improved research, screening, and resource allocation.
Assuntos
Aborto Induzido , Defeitos do Tubo Neural , Gravidez , Lactente , Feminino , Humanos , Estados Unidos , Vigilância da População/métodos , Defeitos do Tubo Neural/epidemiologia , Idade Materna , MassachusettsRESUMO
BACKGROUND: Critical congenital heart defects (CCHDs) are one of the most common types of birth defects and can lead to significant morbidity and mortality along with surgical or catheter interventions within the first year of life. This report updates previously published estimates of CCHD prevalence with the latest population-based surveillance data from 19 birth defect surveillance programs. METHODS: The U.S. population-based surveillance programs submitted data on identified cases of 12 CCHDs and co-occurring cardiovascular and chromosomal birth defects from 2014 to 2018. We estimated prevalence by program type and maternal and infant characteristics. Among nine programs with active case ascertainment that collect more than live births, we estimated the percentage of co-occurring cardiovascular and chromosomal birth defects for the 12 CCHDs. RESULTS: We identified 18,587 cases of CCHD among all participating programs. Overall CCHD prevalence was 19.6 per 10,000 live births among all 19 programs and 20.2 per 10,000 live births among active programs. Among maternal racial/ethnic groups, infants/fetuses born to American Indian/Alaska Native mothers showed the highest overall prevalence for all CCHDs (28.3 per 10,000) along with eight of the 12 individual CCHDs. Among 7,726 infants/fetuses with CCHD from active case ascertainment programs, 15.8% had at least one co-occurring chromosomal birth defect. CONCLUSION: Our study provides prevalence estimates for CCHDs by maternal and infant characteristics along with co-occurrence with cardiovascular and chromosomal birth defects among infants/fetuses with CCHD using one of the largest and most recent cohorts since the implementation of widespread CCHD screening. These data can provide a basis for future research to better understand risk factors for these defects.
Assuntos
Cardiopatias Congênitas , Feminino , Feto , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/epidemiologia , Humanos , Lactente , Nascido Vivo , Gravidez , Prevalência , Fatores de RiscoRESUMO
BACKGROUND: Both short and long interpregnancy intervals (IPIs) have been associated with adverse birth outcomes. We undertook a multistate study to describe the prevalence of selected birth defects by IPI. METHODS: We obtained data from nine population-based state birth defects registries for singleton live births in 2000-2009 among mothers with a previous live birth identified through birth certificates. IPI was calculated as the difference between prior birthdate and start of the current pregnancy (conception date). We estimated prevalence of selected defects per 10,000 live births and prevalence ratios (PRs) with 95% confidence intervals (CIs) overall and stratified by maternal age at previous birth and race/ethnicity. Primary analyses focused on short IPI < 6 months and long IPI ≥ 60 months compared to 18-23 months (referent). Sensitivity analyses limited to active-surveillance states and those with<10% missing IPI. RESULTS: Among 5,147,962 eligible births, 6.3% had short IPI while 19.8% had long IPI. Compared to referent, prevalence with short IPI was elevated for gastroschisis (3.7, CI: 3.0-4.5 vs. 2.0, CI: 1.6-2.4) and with both short and long IPI for tetralogy of Fallot (short: 3.4, 2.8-4.2 long: 3.8, 3.4-4.3 vs. 2.7, 2.3-3.2) and cleft lip ± palate (short: 9.9, 8.8-11.2 long: 9.2, 8.5-9.8 vs. 8.4, 7.6-9.2). Stratified analyses identified additional associations, including elevated prevalence of anencephaly with short IPI in younger mothers and limb defects with long IPI in those ages 25-34 at prior birth. Sensitivity analyses showed similar results. CONCLUSION: In this population-based study, we observed increased prevalence of several birth defects with short and long IPI.
Assuntos
Declaração de Nascimento , Intervalo entre Nascimentos , Feminino , Humanos , Idade Materna , Gravidez , Prevalência , Estudos RetrospectivosRESUMO
BACKGROUND: The yield of head computed tomography (CT) for patients who suffered head trauma with a presenting Glasgow Coma Scale (GCS) score of 15 has been reported to be low, even in patients who are anticoagulated or on antiplatelet therapy. We undertook this study to (1) determine the frequency of intracranial hemorrhage in anticoagulated patients and patients on antiplatelet therapy and its impact on clinical management, (2) identify predictors of positive imaging findings, and (3) assess potential differences between anticoagulation and antiplatelet therapy. METHODS: We conducted a retrospective review of the trauma registry at our institution, a Level II trauma center. All trauma registry patients with a minor head injury registered between the years 2004 and 2006 who were taking warfarin or clopidogrel, had a presenting GCS score of 15, and underwent head CT were included in this study. Intracranial hemorrhage on head CT was considered a positive result. RESULTS: One hundred forty-one patients (male, n=67; female, n=74), mean age 79 years (range, 36-101 years), were included in this study. Forty-one patients (29%) were diagnosed with intracranial hemorrhage. Thirty-nine (95%) of these 41 patients underwent reversal and/or discontinuation of clopidogrel and/or warfarin. Five patients required surgical evacuation of an intracranial hemorrhage. Four patients died. Loss of consciousness (Wald=7.468, ß=1.179, p=0.008) predicted a positive CT result. Type of medication (warfarin, aspirin, or clopidogrel) did not reach statistical significance as a predictor of positive result. CONCLUSION: Despite a presenting GCS score of 15, patients with minor head injury from the trauma registry at our institution taking anticoagulation or antiplatelet therapy have a high incidence of intracranial hemorrhage especially after reported loss of consciousness.
Assuntos
Anticoagulantes/efeitos adversos , Traumatismos Craniocerebrais/complicações , Hemorragia Intracraniana Traumática/induzido quimicamente , Inibidores da Agregação Plaquetária/efeitos adversos , Ticlopidina/análogos & derivados , Varfarina/efeitos adversos , Adulto , Idoso , Idoso de 80 Anos ou mais , Clopidogrel , Traumatismos Craniocerebrais/diagnóstico por imagem , Feminino , Escala de Coma de Glasgow , Humanos , Incidência , Hemorragia Intracraniana Traumática/diagnóstico por imagem , Hemorragia Intracraniana Traumática/epidemiologia , Hemorragia Intracraniana Traumática/etiologia , Masculino , Massachusetts/epidemiologia , Pessoa de Meia-Idade , Estudos Retrospectivos , Ticlopidina/efeitos adversos , Tomografia Computadorizada por Raios X , Centros de Traumatologia/estatística & dados numéricosRESUMO
Anemia is not uncommon in premenopausal women. The purpose of this study was to determine the yield of endoscopy in premenopausal women with anemia. We identified and reviewed the medical records of 168 premenopausal women who underwent upper endoscopy and/or colonoscopy for the indication of iron deficiency anemia (IDA) during the years 1996 through 2005. Of the 168 patients, 100 (59.5%) underwent upper endoscopy and 155 (92.3%) underwent colonoscopy. Eighty-seven (51.8%) patients underwent both procedures. The mean age was 43.1 +/- 5.8 years. The mean hemoglobin was 10.2 +/- 1.3 g/dl. Upper gastrointestinal (GI) lesions potentially causative for anemia were found in 7 of 100 patients who underwent upper endoscopy (7%). Significant lower GI lesions were found in 6 of 155 (3.9%) of those who had a colonoscopy. Our data suggest that both upper endoscopy and colonoscopy were useful in the detection of significant gastrointestinal lesions in premenopausal women with anemia.
Assuntos
Anemia Ferropriva/diagnóstico , Endoscopia Gastrointestinal , Pré-Menopausa , Adulto , Anemia Ferropriva/sangue , Anemia Ferropriva/patologia , Feminino , Trato Gastrointestinal/patologia , Hemoglobinas/metabolismo , Humanos , Pessoa de Meia-Idade , Pré-Menopausa/sangue , Estudos RetrospectivosRESUMO
BACKGROUND/OBJECTIVES: In this report, the National Birth Defects Prevention Network (NBDPN) examines and compares gastroschisis and omphalocele for a recent 5-year birth cohort using data from 30 population-based birth defect surveillance programs in the United States. METHODS: As a special call for data for the 2019 NBDPN Annual Report, state programs reported expanded data on gastroschisis and omphalocele for birth years 2012-2016. We estimated the overall prevalence (per 10,000 live births) and 95% confidence intervals (CI) for each defect as well as by maternal race/ethnicity, maternal age, infant sex, and case ascertainment methodology utilized by the program (active vs. passive). We also compared distribution of cases by maternal and infant factors and presence/absence of other birth defects. RESULTS: The overall prevalence estimates (per 10,000 live births) were 4.3 (95% CI: 4.1-4.4) for gastroschisis and 2.1 (95% CI: 2.0-2.2) for omphalocele. Gastroschisis was more frequent among young mothers (<25 years) and omphalocele more common among older mothers (>40 years). Mothers of infants with gastroschisis were more likely to be underweight/normal weight prior to pregnancy and mothers of infants with omphalocele more likely to be overweight/obese. Omphalocele was twice as likely as gastroschisis to co-occur with other birth defects. CONCLUSIONS: This report highlights important differences between gastroschisis and omphalocele. These differences indicate the importance of distinguishing between these defects in epidemiologic assessments. The report also provides additional data on co-occurrence of gastroschisis and omphalocele with other birth defects. This information can provide a basis for future research to better understand these defects.
Assuntos
Anormalidades Congênitas/etnologia , Anormalidades Congênitas/epidemiologia , Anormalidades do Sistema Digestório/epidemiologia , Parede Abdominal/fisiopatologia , Anormalidades Múltiplas/epidemiologia , Adulto , Anormalidades do Sistema Digestório/etnologia , Feminino , Gastrosquise/epidemiologia , Hérnia Umbilical/epidemiologia , Humanos , Lactente , Recém-Nascido , Nascido Vivo , Masculino , Idade Materna , Pessoa de Meia-Idade , Mães , Vigilância da População/métodos , Gravidez , Prevalência , Grupos Raciais , Sistema de Registros , Fatores de Risco , Estados Unidos/epidemiologia , Estados Unidos/etnologiaRESUMO
BACKGROUND/OBJECTIVES: In this data brief, we examine major eye and ear anomalies (anophthalmia/microphthalmia, anotia/microtia, and congenital cataract) for a recent 5-year birth cohort using data from 30 population-based birth defects surveillance programs in the United States. METHODS: As a special call for data for the 2018 NBDPN Annual Report, state programs reported expanded data on eye/ear anomalies for birth years 2011-2015. We calculated the combined overall prevalence (per 10,000 live births) and 95% confidence intervals (CI), for the three anomalies as well as by maternal age, maternal race/ethnicity, infant sex, laterality, presence/absence of other major birth defects, and case ascertainment methodology utilized by the program (active vs. passive). RESULTS: The overall prevalence estimate (per 10,000 live births) was 1.5 (95% CI: 1.4-1.5) for anophthalmia/microphthalmia, 1.5 (95% CI: 1.4-1.6) for congenital cataract, and 1.8 (95% CI: 1.7-1.8) for anotia/microtia. Congenital cataract prevalence varied little by maternal race/ethnicity, infant sex, or case ascertainment methodology; prevalence differences were more apparent across strata for anophthalmia/microphthalmia and anotia/microtia. Prevalence among active vs. passive ascertainment programs was 50% higher for anophthalmia/microphthalmia (1.9 vs. 1.2) and two-fold higher for anotia/microtia (2.6 vs. 1.2). Anophthalmia/microphthalmia was more likely than other conditions to co-occur with other birth defects. All conditions were more frequent among older mothers (40+ years). CONCLUSIONS: This data brief provides recent prevalence estimates for anophthalmia/microphthalmia, congenital cataract, and anotia/microtia that address a data gap by examining pooled data from 30 population-based surveillance systems, covering a five-year birth cohort of about 12.4 million births.
Assuntos
Anoftalmia/epidemiologia , Microtia Congênita/epidemiologia , Microftalmia/epidemiologia , Adulto , Estudos de Casos e Controles , Catarata/epidemiologia , Anormalidades Congênitas/epidemiologia , Orelha/anormalidades , Anormalidades do Olho , Feminino , Humanos , Lactente , Recém-Nascido , Modelos Logísticos , Masculino , Idade Materna , Mães , Razão de Chances , Vigilância da População/métodos , Gravidez , Prevalência , Sistema de Registros , Fatores de Risco , Estados UnidosRESUMO
BACKGROUND: Assisted reproductive technology (ART) has been associated with birth defects, but the contributions of multiple births and underlying subfertility remain unclear. We evaluated the effects of subfertility and mediation by multiple births on associations between ART and nonchromosomal birth defects. METHODS: We identified a retrospective cohort of Massachusetts live births and stillbirths from 2004 to 2010 among ART-exposed, ART-unexposed subfertile, and fertile mothers using linked information from fertility clinics, vital records, hospital discharges, and birth defects surveillance. Log-binomial regression was used to estimate prevalence ratios and 95% confidence intervals (CIs). Mediation analyses were performed to deconstruct the ART-birth defects association into the direct effect of ART, the indirect effect of multiple births, and the effect of ART-multiples interaction. RESULTS: Of 17,829 ART-exposed births, 355 had a birth defect, compared with 162 of 9431 births to subfertile mothers and 6183 of 445,080 births to fertile mothers. The adjusted prevalence ratio was 1.5 (95% CI, 1.3-1.6) for ART and 1.3 (95% CI, 1.1-1.5) in subfertile compared with fertile deliveries. We observed elevated rates of several birth defects with ART, including tetralogy of Fallot and hypospadias. Subfertility and multiple births affect these associations, with multiple births explaining 36% of the relative effect of ART on nonchromosomal birth defects. CONCLUSION: Although the risk of birth defects with ART is small, a substantial portion of the relative effect is mediated through multiple births, with subfertility contributing an important role. Future research is needed to determine the impact of newer techniques, such as single embryo transfer, on these risks. Birth Defects Research 109:1144-1153, 2017. © 2017 Wiley Periodicals, Inc.
Assuntos
Técnicas de Reprodução Assistida/efeitos adversos , Técnicas de Reprodução Assistida/tendências , Adulto , Estudos de Coortes , Anormalidades Congênitas/epidemiologia , Feminino , Fertilidade , Humanos , Recém-Nascido de Baixo Peso , Recém-Nascido , Recém-Nascido Prematuro , Infertilidade , Nascido Vivo , Masculino , Massachusetts/epidemiologia , Prole de Múltiplos Nascimentos , Parto , Gravidez , Resultado da Gravidez/epidemiologia , Gravidez Múltipla , Nascimento Prematuro/epidemiologia , Técnicas de Reprodução Assistida/estatística & dados numéricos , Estudos Retrospectivos , Transferência de Embrião Único/métodosRESUMO
BACKGROUND: We evaluated selected birth defects over a 9-year period to assess prevalence trends by selected maternal and infant factors. METHODS: Data were pooled from 11 population-based birth defects surveillance programs in the United States for children born between 1999 and 2007. Overall prevalence, as well as 3-year interval prevalence, was calculated for 26 specific birth defects, stratified by maternal age, maternal race/ethnicity, and infant sex. Average annual percent change (AAPC) was calculated for each birth defect. Poisson regression was used to determine change in AAPC, and joinpoint regression to identify breakpoints and changes in slope for prevalence of each defect over time. RESULTS: Between 1999 and 2001 and 2005 and 2007, four birth defects increased by 10% or more: coarctation of the aorta (17%), gastroschisis (83%), omphalocele (11%), and Down syndrome (10%). Among mothers <20 years of age, the gastroschisis AAPC increased 10.1% overall and, cross-classified by maternal race/ethnicity, the AAPC for mothers <20 years increased 9.2%, 25.7%, and 7.7% among non-Hispanic white (NHW), non-Hispanic black (NHB), and Hispanic mothers, respectively. A small increase in Down syndrome (AAPC 4.4%) was found for NHB mothers ≥35 years. CONCLUSION: No significant trends in prevalence were identified for most birth defects. Gastroschisis prevalence increased significantly among NHW and NHB mothers <20 years of age, with the greatest increases in NHB mothers. Prevalence of Down syndrome among NHB mothers ≥35 years also increased slightly. Stratified results may suggest avenues of research in birth defect etiology and in evaluating prevention efforts. Birth Defects Research 109:1442-1450, 2017.© 2017 Wiley Periodicals, Inc.
Assuntos
Anormalidades Congênitas/epidemiologia , Anormalidades Congênitas/prevenção & controle , Coartação Aórtica/epidemiologia , Coartação Aórtica/prevenção & controle , Síndrome de Down/epidemiologia , Síndrome de Down/prevenção & controle , Etnicidade , Feminino , Gastrosquise/epidemiologia , Gastrosquise/prevenção & controle , Hérnia Umbilical/epidemiologia , Hérnia Umbilical/prevenção & controle , Humanos , Masculino , Idade Materna , Mães , Vigilância da População/métodos , Prevalência , Estudos Retrospectivos , Fatores de Risco , Fatores Sexuais , Estados UnidosRESUMO
BACKGROUND: Gastrointestinal defects are a phenotypically and etiologically diverse group of malformations. Despite their combined prevalence and clinical impact, little is known about the epidemiology of these birth defects. Therefore, the objective of the 2017 National Birth Defects Prevention Network (NBDPN) data brief was to better describe the occurrence of gastrointestinal defects. METHODS: As part of the 2017 NBDPN annual report, 28 state programs provided additional data on gastrointestinal defects for the period 2010-2014. Counts and prevalence estimates (per 10,000 live births) were calculated overall and by demographic characteristics for (1) biliary atresia; (2) esophageal atresia/tracheoesophageal fistula; (3) rectal and large intestinal atresia/stenosis; and (4) small intestinal atresia/stenosis. Additionally, we explored the frequency of these malformations co-occurring with other structural birth defects. RESULTS: Pooling data from all participating registries, the prevalence estimates were: 0.7 per 10,000 live births for biliary atresia (713 cases); 2.3 per 10,000 live births for esophageal atresia/tracheoesophageal fistula (2,472 cases); 4.2 per 10,000 live births for rectal and large intestinal atresia/stenosis (4,334 cases); and 3.4 per 10,000 live births for small intestinal atresia/stenosis (3,388 cases). Findings related to co-occurring birth defects were especially notable for esophageal atresia/tracheoesophageal fistula, rectal and large intestinal atresia/stenosis, and small intestinal atresia/stenosis, where the median percentage of non-isolated cases was 53.9%, 45.5%, and 50.6%, respectively. CONCLUSIONS: These population-based prevalence estimates confirm some previous studies, and provide a foundation for future epidemiologic studies of gastrointestinal defects. Exploring the genetic and environmental determinants of these malformations may yield new clues into their etiologies.
Assuntos
Anormalidades Congênitas/epidemiologia , Gastroenteropatias/epidemiologia , Atresia Biliar/epidemiologia , Colo/anormalidades , Bases de Dados Factuais , Atresia Esofágica/epidemiologia , Feminino , Trato Gastrointestinal , Humanos , Atresia Intestinal/epidemiologia , Nascido Vivo , Masculino , Vigilância da População/métodos , Gravidez , Prevalência , Sistema de Registros , Fístula Traqueoesofágica/epidemiologia , Estados UnidosRESUMO
Chemotherapy used to treat lymphoma can cause severe neutropenia. Risk models have identified factors that predict neutropenia across all chemotherapy cycles. We used clinical information obtained during pretreatment evaluation to develop a predictive model for severe neutropenia in the first cycle of cyclophosphamide, doxorubicin, vincristine and prednisone (CHOP) chemotherapy. This case series study included lymphoma patients receiving CHOP chemotherapy with or without rituximab who did not receive pre-emptive hematopoietic growth factor. Risk factors for neutropenia were identified from previously published models and included age >or=65 years, hypoalbuminemia, renal/cardiovascular disease, anemia, abnormal bone marrow and increased lactate dehydrogenase (LDH). A composite score equal to the number of pretreatment risk factors was used to predict severe neutropenia in cycle 1. Fifty-three percent of patients (47 of 89) had severe neutropenia, with 70% of first episodes occurring during cycle 1. Eighty-two percent of first-cycle, severe neutropenia events occurred in patients >or=65-years-old. In univariate analysis, age >or=65 years and increased baseline LDH were significantly associated with increased risk for severe neutropenia in cycle 1. In logistic regression modeling, the probability of severe neutropenia in cycle 1 increased as the number of pretreatment risk factors increased, with a one-unit increase in risk score resulting in a 2.3-fold increase in severe neutropenia. The study results suggest that data obtained before initiating CHOP-based chemotherapy can be used to identify those patients who are at risk for severe neutropenia in cycle 1. If validated, our model could be used to identify patients who would benefit from early use of growth factors.
Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Neutropenia/induzido quimicamente , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Anticorpos Monoclonais/uso terapêutico , Anticorpos Monoclonais Murinos , Ciclofosfamida/efeitos adversos , Doxorrubicina/efeitos adversos , Avaliação de Medicamentos , Substâncias de Crescimento/uso terapêutico , Humanos , Linfoma/complicações , Linfoma/diagnóstico , Linfoma/tratamento farmacológico , Pessoa de Meia-Idade , Modelos Teóricos , Neutropenia/diagnóstico , Prednisona/efeitos adversos , Probabilidade , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Rituximab , Vincristina/efeitos adversosRESUMO
OBJECTIVE: To assess the validity of outcome data reported to the Society for Assisted Reproductive Technology Clinic Outcome Reporting System (SART CORS) compared with data from vital records and the birth defects registry in Massachusetts. DESIGN: Longitudinal cohort. SETTING: Not applicable. PARTICIPANT(S): A total of 342,035 live births and fetal deaths from Massachusetts mothers giving birth in the state from July 1, 2004, to December 31, 2008; 9,092 births and fetal deaths were from mothers who had conceived with the use of assisted reproductive technology (ART) and whose cycle data had been reported to the SART CORS. INTERVENTION(S): Not applicable. MAIN OUTCOME MEASURE(S): Percentage agreement between maternal race and ethnicity, delivery outcome (live birth or fetal death), plurality (singleton, twin, or triplet+), delivery date, and singleton birth weight reported in the SART CORS versus vital records; sensitivity and specificity for birth defects among singletons as reported in the SART CORS versus the Massachusetts Birth Defects Monitoring Program (BDMP). RESULT(S): There was >95% agreement between the SART CORS and vital records for fields of maternal race/ethnicity, live birth/fetal death, and plurality; birth outcome date was within 1 day with 94.9% agreement and birth weight was within 100 g with 89.6% agreement. In contrast, sensitivity for report of any birth defect was 38.6%, with a range of 18.4%-50.0%, for specific birth defect categories. CONCLUSION(S): Although most SART CORS outcome fields are accurately reported, birth defect variables showed poor sensitivity compared with the gold standard data from the BDMP. We suggest that reporting of birth defects be discontinued.
Assuntos
Anormalidades Congênitas/epidemiologia , Confiabilidade dos Dados , Morte Fetal , Infertilidade/terapia , Resultado da Gravidez , Técnicas de Reprodução Assistida/efeitos adversos , Peso ao Nascer , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/etnologia , Feminino , Fertilidade , Humanos , Infertilidade/diagnóstico , Infertilidade/fisiopatologia , Nascido Vivo , Massachusetts/epidemiologia , Gravidez , Gravidez Múltipla , Sistema de Registros , Reprodutibilidade dos Testes , Técnicas de Reprodução Assistida/mortalidade , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Fatores de Tempo , Resultado do TratamentoRESUMO
BACKGROUND: Consistent data on the prevalence and predictors of premenstrual dysphoric disorder (PMDD) in the general population are lacking. METHODS: Premenstrual symptoms of 4164 women (aged 36-44 years) were retrospectively assessed by the Moos Premenstrual Inventory. From this original sample, 976 subjects were further interviewed at which time demographic and lifestyle characteristics, gynecologic history, and medical conditions were examined. The Structured Clinical Interview for DSM-IV Axis I disorders (SCID) was used to assess past and current psychiatric morbidity. Additionally, 513 of these women completed a prospective evaluation of premenstrual symptoms by using the Daily Rating of Severity of Problems Form (DRSP). RESULTS: The diagnosis of PMDD was confirmed in 33 of 513 women (6.4%) who completed the prospective evaluation with daily records. Fourteen subjects (2.7%) met criteria for PMDD without a previous history of depression. PMDD was associated with lower education (odds ratio [OR]=2.3, confidence interval [CI]=1.1-4.9), a history of major depression (OR=3.6, CI=1.7-7.4), and current cigarette smoking (OR=4.1, CI=1.5-11.1). In addition, women not working outside the home were significantly less likely to meet criteria for PMDD (OR=0.2, CI=0.1-0.9). LIMITATIONS: Only 513 of 976 women agreed to have their symptoms documented prospectively. Symptoms were assessed over the course of one menstrual cycle. CONCLUSIONS: This study indicates a significant prevalence of PMDD in a large community-based sample. Given the associated impairment in social and occupational functioning seen in PMDD, these prevalence data provide a strong rationale for enhanced recognition and treatment of the disorder.
Assuntos
Depressão/epidemiologia , Depressão/etiologia , Pré-Menopausa/psicologia , Síndrome Pré-Menstrual/epidemiologia , Síndrome Pré-Menstrual/psicologia , Adolescente , Adulto , Fatores Etários , Depressão/diagnóstico , Feminino , Humanos , Ciclo Menstrual/fisiologia , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Síndrome Pré-Menstrual/diagnóstico , Prevalência , Estudos Prospectivos , Escalas de Graduação Psiquiátrica , Índice de Gravidade de DoençaRESUMO
OBJECTIVE: We aimed to examine trends in timing of diagnosis of critical congenital heart defects (CCHDs) and factors associated with delayed diagnosis (diagnosis after discharge home following delivery). METHODS: We examined a population-based retrospective cohort of CCHD cases among live births identified through the Massachusetts Birth Defects Monitoring Program. Congenital heart defects were considered critical if the infant received corrective surgery, interventional catheterization, palliative care, or died as a result of the defect within 12 months of birth. Timing of initial diagnosis was classified as prenatal, postnatal before discharge home, or delayed. Demographic, perinatal, and mortality information was obtained from the Registry of Vital Records and Statistics. Prevalence ratios (PRs) were used to examine associations with delayed diagnosis. RESULTS: Among 460 467 live births to Massachusetts residents between 2004 and 2009, we identified 916 CCHD cases, of which 126 (13.8%) had delayed diagnosis. Rates of prenatal CCHD diagnosis increased from 44.9% in 2004 to 63.8% in 2009, whereas rates of delayed diagnosis decreased from 17.1% to 10.6% over the same time period. Among cases with delayed diagnosis, the most common defects were coarctation, pulmonary valve stenosis, and tetralogy of Fallot. Delayed diagnosis was associated with delivery outside a tertiary hospital (adjusted PR: 3.6 [95% confidence interval: 2.5-5.2]) and isolated CCHD (adjusted PR: 1.7 [95% confidence interval: 1.1-2.7]). CONCLUSIONS: Despite increasing prenatal diagnosis of CCHDs, delayed diagnosis still occurs in over 10% of cases. Understanding factors associated with delayed diagnosis could help to improve prenatal and postnatal screening efforts, including pulse oximetry testing.