RESUMO
OBJECTIVE: Congenital uterine anomalies during pregnancy increase the risk of pregnancy complications such as miscarriage, preterm delivery, fetal malpresentation, cesarean delivery, and fetal growth restriction. However, few studies have examined uterine anomalies in relation to perinatal complications other than those mentioned above. We investigated the association between pregnancies complicated by congenital uterine anomalies and various perinatal outcomes at our institution. METHODS: This retrospective cohort study was conducted from January 2009 to May 2021. We included cases of uterine anomalies, such as septate, bicornuate, unicornuate, and didelphic uterus. First, the perinatal complications and neonatal outcomes were compared between pregnancies complicated by uterine anomalies and those with normal uteri. Second, we conducted an analysis based on the type of uterine anomalies classified into two groups: the minor anomaly group consisted of anomalies limited to the uterine cavity, such as the septate uterus, whereas the major anomaly group included anomalies affecting the uterine shape, such as bicornuate, unicornuate, and didelphic uterus. We compared the incidence of perinatal complications among the major anomaly, minor anomaly, and normal uterus groups. RESULTS: During the study period, 45 pregnancies were complicated with uterine anomalies. The minor anomaly group included 11 patients and the major anomaly group included 34 patients. The incidence of fetal malpresentation was significantly higher in the uterine anomaly group than in the normal uterus group (18% vs. 3.7%, p = .04). Furthermore, the frequency of abnormal placental cord insertion was significantly higher in the uterine anomaly group (16% vs. 3.7%, p = .01). Examination based on the type of uterine anomaly revealed significant differences in cervical incompetence, malpresentation, cesarean section, and abnormal placental cord insertion. Cervical incompetence was more likely in patients with minor anomalies. In contrast, fetal malpresentation, cesarean section, and abnormal placental cord insertion were more likely in the major anomaly group. CONCLUSIONS: In addition to the findings reported in previous studies, abnormal placental cord insertion was more frequent in pregnancies complicated by uterine anomalies.
Assuntos
Complicações na Gravidez , Anormalidades Urogenitais , Útero , Humanos , Feminino , Gravidez , Estudos Retrospectivos , Útero/anormalidades , Adulto , Anormalidades Urogenitais/epidemiologia , Anormalidades Urogenitais/complicações , Complicações na Gravidez/epidemiologia , Resultado da Gravidez/epidemiologia , Recém-Nascido , Cordão Umbilical/anormalidadesRESUMO
STUDY QUESTION: What is the prevalence of congenital and acquired anomalies of the uterus in women with recurrent pregnancy loss (RPL) of unknown etiology examined using 3D transvaginal ultrasound (US)? SUMMARY ANSWER: Depending on the adopted diagnostic criteria, the prevalence of partial septate uterus varies between 7% and 14% and a T-shaped uterus is 3% or 4%, while adenomyosis is 23%, at least one of type 0, type 1 or type 2 myoma is 4%, and at least one endometrial polyp is 4%. WHAT IS KNOWN ALREADY: ESHRE and the Royal College of Obstetricians and Gynaecologists guidelines on RPL recommend the adoption of the 3D transvaginal US to evaluate the 'uterine factor'. Nevertheless, there are no published studies reporting the prevalence of both congenital and acquired uterine anomalies as assessed by 3D transvaginal US and diagnosed according to the criteria proposed by the most authoritative panels of experts in a cohort of women with RPL. STUDY DESIGN, SIZE, DURATION: This was a retrospective cohort study including 442 women with at least two previous first-trimester spontaneous pregnancy losses (i.e. non-viable intrauterine pregnancies), who referred to the obstetrics and gynecology unit of two university hospitals between July 2020 and July 2023. PARTICIPANTS/MATERIALS, SETTING, METHODS: Records of eligible women were reviewed. Women could be included in the study if: they were between 25 and 42 years old; they had no relevant comorbidities; they were not affected by infertility, and they had never undergone ART; they and their partner tested negative to a comprehensive RPL diagnostic work-up; and they had never undergone metroplasty, myomectomy, minimally invasive treatments for uterine fibroids or adenomyomectomy. Expert sonographers independently re-analyzed the stored 2- and 3D transvaginal US images of all included patients. Congenital uterine anomalies (CUAs) were reported according to the American Society for Reproductive Medicine (ASRM) 2021, the ESHRE/European Society for Gynaecological Endoscopy (ESGE) and the Congenital Uterine Malformation by Experts (CUME) criteria. Acquired uterine anomalies were reported according to the International Federation of Gynecology and Obstetrics (FIGO) and the Morphological Uterus Sonographic Assessment (MUSA) criteria. MAIN RESULTS AND THE ROLE OF CHANCE: The partial septate uterus was diagnosed in 60 (14%; 95% CI: 11-17%), 29 (7%; 95% CI: 5-9%), and 47 (11%; 95% CI: 8-14%) subjects, according to the ESHRE/ESGE, the ASRM 2021, and the CUME criteria, respectively. The T-shaped uterus was diagnosed in 19 women (4%; 95% CI: 3-7%) according to the ESHRE/ESGE criteria and in 13 women (3%; 95% CI: 2-5%) according to the CUME criteria. The borderline T-shaped uterus (diagnosed when two out of three CUME criteria for T-shaped uterus were met) was observed in 16 women (4%; 95% CI: 2-6%). At least one of FIGO type 0, type 1, or type 2 myoma was detected in 4% of included subjects (95% CI: 3-6%). Adenomyosis was detected in 100 women (23%; 95% CI: 19-27%) and was significantly more prevalent in women with primary RPL and in those with three or more pregnancy losses. At least one endometrial polyp was detected in 4% of enrolled women (95% CI: 3-7%). LIMITATIONS, REASONS FOR CAUTION: The absence of a control group prevented us from investigating the presence of an association between both congenital and acquired uterine anomalies and RPL. Second, the presence as well as the absence of both congenital and acquired uterine anomalies detected by 3D US was not confirmed by hysteroscopy. Finally, the results of the present study inevitably suffer from the intrinsic limitations of the adopted classification systems. WIDER IMPLICATIONS OF THE FINDINGS: The prevalence of CUAs in women with RPL varies depending on the classification system used. For reasons of clarity, the US reports should always state the name of the uterine anomaly as well as the adopted classification and diagnostic criteria. Adenomyosis seems to be associated with more severe forms of RPL. The prevalence rates estimated by our study as well as the replicability of the adopted diagnostic criteria provide a basis for the design and sample size calculation of prospective studies. STUDY FUNDING/COMPETING INTEREST(S): No specific funding was used. The authors have no conflicts of interest to declare. TRIAL REGISTRATION NUMBER: N/A.
Assuntos
Aborto Habitual , Útero , Humanos , Feminino , Estudos Retrospectivos , Aborto Habitual/diagnóstico por imagem , Aborto Habitual/epidemiologia , Aborto Habitual/etiologia , Gravidez , Adulto , Útero/diagnóstico por imagem , Útero/anormalidades , Imageamento Tridimensional , Anormalidades Urogenitais/diagnóstico por imagem , Anormalidades Urogenitais/epidemiologia , Prevalência , Ultrassonografia/métodos , Adenomiose/diagnóstico por imagem , Leiomioma/diagnóstico por imagemRESUMO
Background/aim: Congenital anomalies of the kidney and urinary tract(CAKUT) are the leading causes of childhood chronic kidney disease (CKD). The etiology of most of the cases is thought to be multifactorial. In this study, risk factors for CAKUT and the effect of mobile phone-related electromagnetic field (EMF) exposure during pregnancy were investigated. Materials and methods: Fifty-seven cases and 57 healthy controls under 2 years of age were included and their mothers were subjected to a questionnaire. Groups were compared for parents' demographics, pregestational (chronic disease, body mass index, use of the folic acid supplements) and antenatal variables (gestational disease, weight gain during pregnancy,) and exposures during pregnancy. To assess mobile phone-related radiation exposure, all participants were asked about their daily call time, the proximity of the phone when not in use, and the models of their mobile phones. The specific absorption rate (SAR) of the mobile phones and the effective SAR value (SAR × call time) as an indicator of EMF exposure were recorded. Results: Excess weight gain according to BMI during pregnancy was related to an increased risk of CAKUT (p=0.012). Folic acid use before pregnancy was protective for CAKUT (p = 0.028). The call time of mothers of the CAKUT group was significantly longer than the control (p = 0.001). An association was observed between higher effective SAR values and increased risk of CAKUT (p = 0.03). However the proximity of the mobile phone to the mother's body when not in use was not found as a risk factor. Conclusion: The etiology of CAKUT is multifactorial. Our results suggest that prolonged phone call and higher EMF exposure during pregnancy increases the risk of CAKUT in the offspring.
Assuntos
Telefone Celular , Campos Eletromagnéticos , Humanos , Feminino , Gravidez , Fatores de Risco , Campos Eletromagnéticos/efeitos adversos , Adulto , Estudos de Casos e Controles , Anormalidades Urogenitais/epidemiologia , Anormalidades Urogenitais/etiologia , Exposição Materna/efeitos adversos , Efeitos Tardios da Exposição Pré-Natal/epidemiologia , Refluxo VesicoureteralRESUMO
Objective: To analyze the incidence and clinical phenotype of the concomitant extragenital malformations in the patients with female reproductive tract anomalies. Methods: A retrospective study was conducted using clinical data of hospitalized patients diagnosed with uterine, cervical, or vaginal malformations from January 2003 to December 2022 in Peking Union Medical College Hospital. The malformations were classified according to American Society for Reproductive Medicine müllerian anomalies classification 2021, and in each type, the incidence and specific manifestations of concomitant extragnital malformations were analyzed. Results: A total of 444 patients were included. The overall incidence of concomitant extragenital malformations was 43.5% (193/444), including urinary system, skeletal system, and other system malformations. Renal malformations on the obstructed side were present in all patients with oblique vaginal septum syndrome (100.0%, 78/78). The total incidence of concomitant extragnital malformations was as high as 8/11 in uterus didelphys, 43.5% (10/23) in unicornuate uterus, 33.6% (79/235) in Mayer-Rokitansky-Küster-Hauser syndrome, 18.8% (6/32) in septate uterus and 18.5% (12/65) in cervical agenesis. Urinary system malformations (30.6%, 136/444) and skeletal system malformations (13.5%, 60/444) were the most common concomitant malformations in all types, in which, unilateral renal agenesis and scoliosis were the most common. Conclusions: Urinary and skeletal system malformations are important features of female reproductive tract anomalies. Urologic ultrasonography and spinal roentgenogram are recommended for all patients with female reproductive tract anomalies.
Assuntos
Anormalidades Múltiplas , Ductos Paramesonéfricos , Anormalidades Urogenitais , Útero , Vagina , Humanos , Feminino , Estudos Retrospectivos , Anormalidades Urogenitais/epidemiologia , Útero/anormalidades , Vagina/anormalidades , Ductos Paramesonéfricos/anormalidades , Incidência , Anormalidades Múltiplas/epidemiologia , Transtornos 46, XX do Desenvolvimento Sexual/epidemiologia , Rim/anormalidades , Colo do Útero/anormalidades , Colo do Útero/patologia , Genitália Feminina/anormalidades , China/epidemiologia , Anormalidades Congênitas/epidemiologia , AdultoRESUMO
Genital anomalies have been reported with VACTERL association but not considered a core feature. Acute and chronic complications stemming from unrecognized genital anomalies have been reported in adolescents and young adults with VACTERL association. We sought to determine the frequency and severity of genital anomalies in VACTERL patients and identify which core features were more frequently associated with genital anomalies. A retrospective chart review from January 2010 to October 2021 identified 211 patients with two or more core VACTERL features, 34% of whom had a genital anomaly. The majority of genital anomalies (83% of those in males and 90% in females) were classified as functionally significant (requiring surgical intervention or causing functional impairment). The frequency of genital anomalies in the VACTERL cohort was higher if anorectal malformations or renal anomalies were present in both males and females and if vertebral anomalies were present in females. Due to their functional significance, genital anomalies should be assessed in all patients with two or more core features of VACTERL association, especially in those with anorectal or renal anomalies. Most genital anomalies in males will be detected on physical examination but additional investigation is often needed to detect genital anomalies in females. The timing and type of investigation are subjects for future study.
Assuntos
Canal Anal , Esôfago , Cardiopatias Congênitas , Rim , Deformidades Congênitas dos Membros , Coluna Vertebral , Traqueia , Humanos , Masculino , Feminino , Canal Anal/anormalidades , Canal Anal/patologia , Deformidades Congênitas dos Membros/patologia , Deformidades Congênitas dos Membros/genética , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/epidemiologia , Esôfago/anormalidades , Esôfago/patologia , Coluna Vertebral/anormalidades , Coluna Vertebral/patologia , Traqueia/anormalidades , Traqueia/patologia , Adolescente , Cardiopatias Congênitas/patologia , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/genética , Cardiopatias Congênitas/diagnóstico , Rim/anormalidades , Rim/patologia , Adulto , Estudos Retrospectivos , Criança , Adulto Jovem , Pré-Escolar , Anormalidades Urogenitais/epidemiologia , Anormalidades Urogenitais/genética , Anormalidades Urogenitais/diagnóstico , Anormalidades Urogenitais/patologia , Lactente , Malformações Anorretais/epidemiologia , Malformações Anorretais/genética , Malformações Anorretais/diagnóstico , Malformações Anorretais/patologia , Genitália/anormalidades , Genitália/patologiaRESUMO
BACKGROUND: Reviews on Down syndrome do not or only marginally address the issue of kidney and urogenital tract abnormalities, and lower urinary tract dysfunctions. Hence, we performed a meta-analysis of the literature. METHODS: A literature search was undertaken in the Library of Medicine, Web of Science and Excerpta Medica. The search algorithm combined various keywords: (Down syndrome OR trisomy 21 OR mongolism) AND (kidney OR urinary tract OR bladder) AND (malformation OR dysfunction OR anomaly OR abnormality OR size). The Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement was used. RESULTS: Eight case-control studies were retained for the final analysis. Three studies addressed the prevalence of kidney and urogenital tract abnormalities: an increased pooled relative risk of 5.49 (95%-CI: 1.78-16.93) was observed in Down syndrome. Penile malformations, obstructive malformations (including urethral valves), dilated urinary tract system, and kidney hypodysplasia were especially common. Three reports addressed the prevalence of lower urinary tract dysfunction: an increased pooled relative risk of 2.95 (95%-CI: 1.15-7.56) was observed. Finally, an autoptic study and an ultrasound study disclosed a reduced kidney size in Down syndrome. CONCLUSIONS: This meta-analysis indicates that abnormalities of the kidney and urogenital tract, lower urinary tract dysfunctions, and a reduced kidney size present with an increased frequency in individuals with Down syndrome.
Assuntos
Síndrome de Down , Sistema Urinário , Anormalidades Urogenitais , Humanos , Síndrome de Down/complicações , Síndrome de Down/epidemiologia , Rim/anormalidades , Sistema Urinário/anormalidades , Anormalidades Urogenitais/complicações , Anormalidades Urogenitais/epidemiologiaRESUMO
The link between neonatal jaundice and urinary tract infection (UTI) remains debated, with congenital kidney and urinary tract anomalies (CAKUT) potentially playing a role. This population-based study aimed to analyze the correlations between neonatal jaundice, CAKUT, and concomitant UTI. The study cohort consisted of 2,078,122 live births from 2004 to 2014. We linked several population-based datasets in Taiwan to identify infants with unexplained neonatal jaundice and their mothers. The primary outcome was the rate of CAKUT occurring within 3 years after delivery, and the presence of concomitant UTI during neonatal jaundice hospitalization. Infants with neonatal jaundice had a significantly higher risk of CAKUT (adjusted odds ratio [aOR] 1.24, 95% confidence interval [CI] 1.11-1.39) during early childhood. Among the subtypes of CAKUT, obstructive uropathy, vesicoureteral reflux and other CAKUT were associated with an increased risk of neonatal jaundice. Infants who underwent intensive phototherapy, had a late diagnosis (> 14 days of postnatal age) or underwent a prolonged duration of phototherapy (> 3 days) exhibited a higher risk of concomitant UTI compared to other infants with jaundice. Our findings indicate a notable association between neonatal jaundice and increased risks of UTIs in the context of CAKUT. This study underscore the importance of vigilant monitoring and timely interventions for neonates presenting with jaundice, while acknowledging the complexity and variability in the progression of CAKUT and its potential connection to UTIs.
Assuntos
Icterícia Neonatal , Infecções Urinárias , Refluxo Vesicoureteral , Humanos , Infecções Urinárias/complicações , Infecções Urinárias/epidemiologia , Icterícia Neonatal/epidemiologia , Icterícia Neonatal/complicações , Icterícia Neonatal/etiologia , Feminino , Recém-Nascido , Masculino , Taiwan/epidemiologia , Fatores de Risco , Rim/anormalidades , Lactente , Sistema Urinário/anormalidades , Anormalidades Urogenitais/complicações , Anormalidades Urogenitais/epidemiologiaRESUMO
OBJECTIVES AND BACKGROUND: According to studies, 1% of all pregnancies have an abnormality, with 20-30% of those affecting the genitourinary system. Congenital abnormalities of the kidney and urinary tract (CAKUT) is one of the primary causes of perinatal and neonatal mortality in children. Many extra-renal congenital illnesses accompany these defects, affecting the patient's prognosis. This study aims to determine the subtypes, frequency, and extra-renal defects associated with congenital anomalies of the urinary system, which is the major cause of mortality in fetal and infant autopsies throughout the perinatal and neonatal eras. We believe that our study will contribute to the literature because few autopsy investigations can give this data. MATERIALS AND METHODS: The study included 110 fetal autopsies between January 1997 and May 2019. 10% were newborns under the age of one year, and 90% were fetus autopsies. RESULTS: Males accounted for 67.3% of the cases, while females accounted for 35 (31.8%) (the gender of one case could not be determined). Renal dysplasia was the most frequent CAKUT, with a rate of 22.73%, followed by renal agenesis, with a rate of 20.0%. Eighty-four cases (76.3%) showed disease in at least one other organ system. Musculoskeletal system (MSS) abnormalities were the most common associated system anomaly, with one or more MSS anomalies (34.55%) detected in 38 cases. CONCLUSION: Finally, we want to underline that CAKUT and its associated anomalies are not uncommon. Prenatal imaging, genetic investigation, and/or postmortem examination should all be used to screen for CAKUT. This information is helpful for the mother's future pregnancy management and parental genetic counseling.
Assuntos
Autopsia , Feto , Rim , Sistema Urinário , Anormalidades Urogenitais , Humanos , Feminino , Masculino , Feto/anormalidades , Feto/patologia , Recém-Nascido , Rim/patologia , Rim/anormalidades , Anormalidades Urogenitais/patologia , Anormalidades Urogenitais/epidemiologia , Sistema Urinário/anormalidades , Sistema Urinário/patologia , Gravidez , Lactente , Estudos Retrospectivos , Refluxo VesicoureteralRESUMO
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) represent 20-30% of all birth defects and are often associated with extra-renal malformations. We investigated the frequency of brain/spine malformations and neurological features in children with CAKUT. METHODS: We reviewed the clinico-radiological and genetic data of 199 out of 1,165 children with CAKUT evaluated from 2006 to 2023 (99 males, mean age at MRI 6.4 years) who underwent brain and/or spine MRI. Patients were grouped according to the type of CAKUT (CAKUT-K involving the kidney and CAKUT-H involving the inferior urinary tract). Group comparisons were performed using χ2 and Fisher exact tests. RESULTS: Brain/spine malformations were observed in 101/199 subjects (50.7%), 8.6% (101/1165) of our CAKUT population, including midbrain-hindbrain anomalies (40/158, 25.3%), commissural malformations (36/158, 22.7%), malformation of cortical development (23/158, 14.5%), Chiari I anomaly (12/199, 6%), cranio-cervical junction malformations (12/199, 6%), vertebral defects (46/94, 48.9%), caudal regression syndrome (29/94, 30.8%), and other spinal dysraphisms (13/94, 13.8%). Brain/spine malformations were more frequent in the CAKUT-K group (62.4%, p < 0.001). Sixty-two subjects (62/199, 31.2%) had developmental delay/intellectual disability. Neurological examination was abnormal in 40/199 (20.1%). Seizures and/or electroencephalographic anomalies were reported in 28/199 (14%) and behavior problems in 19/199 subjects (9%). Developmental delay/intellectual disability was more frequent in kidney dysplasia (65.2%) and agenesis (40.7%) (p = 0.001). CONCLUSIONS: We report a relative high frequency of brain/spine malformations and neurodevelopmental disorders in children with CAKUT who underwent MRI examinations in a tertiary referral center, widening the spectrum of anomalies associated with this condition.
Assuntos
Encéfalo , Imageamento por Ressonância Magnética , Transtornos do Neurodesenvolvimento , Coluna Vertebral , Anormalidades Urogenitais , Humanos , Masculino , Feminino , Criança , Pré-Escolar , Transtornos do Neurodesenvolvimento/epidemiologia , Transtornos do Neurodesenvolvimento/etiologia , Transtornos do Neurodesenvolvimento/diagnóstico , Coluna Vertebral/anormalidades , Coluna Vertebral/diagnóstico por imagem , Anormalidades Urogenitais/epidemiologia , Anormalidades Urogenitais/complicações , Anormalidades Urogenitais/diagnóstico , Encéfalo/diagnóstico por imagem , Encéfalo/anormalidades , Encéfalo/patologia , Estudos Retrospectivos , Lactente , Adolescente , Refluxo VesicoureteralRESUMO
Specialist facilities for children are still unavailable in some Sub-Saharan African contexts. It is the case of pediatric urology, whose recent advances are still largely unshared. Prenatal diagnosis of urinary abnormalities (CAKUT) is largely unknown. Early recognition and referral of Undescended testis (UDT), Hypospadia, bladder exstrophy epispadias complex, ambiguous genitalia, stone disease, and tumours are uncommon in rural areas. Missed diagnosis is not uncommon and delayed management is associated with poor outcomes. We present a cross-sectional, descriptive study about the epidemiology of Pediatric urological admissions to three sub-Saharan East African Hospitals. All the urological cases between 0-18 years referred to three distinct East African Hospitals over 124 weeks were considered. Prevalence of different groups of diseases, age, and mode of presentation were reported. We found 351 cases (M/F 127/24) out of 2543 surgical referrals (13%). Seventy percent of cases were Hypospadias and UDT. Fifty percent of UDT were beyond 6, and most Hypospadias were between 4 and 7 yrs. CAKUT had a very low prevalence (4.84%), and about 50% of Wilms Tumours came too late to be resectable. In many African contexts, urology is still a tiny portion of the pediatric surgical workload compared to the 25% of European and American reports. There are also differences in the epidemiology of genitourinary conditions. A hidden burden of diseases may be presumed, remaining undiagnosed due to the shortage of specialist facilities.
Assuntos
Criptorquidismo , Hipospadia , Neoplasias , Anormalidades Urogenitais , Refluxo Vesicoureteral , Criança , Feminino , Humanos , Masculino , África Subsaariana/epidemiologia , Estudos Transversais , Criptorquidismo/epidemiologia , Hospitais , Hipospadia/epidemiologia , Neoplasias/epidemiologia , Anormalidades Urogenitais/epidemiologia , Urologia , Refluxo Vesicoureteral/epidemiologia , Recém-Nascido , Lactente , Pré-Escolar , AdolescenteRESUMO
BACKGROUND: The Department of Defense Birth and Infant Health Research program is dedicated to birth defects research and surveillance among military families. Here, we assess and refine the validity of International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) codes for selected genitourinary birth defects in the Military Health System (MHS). We additionally outline methods for the calculation of positive predictive value (PPV) and negative predictive value (NPV), sensitivity, and specificity using a stratified sampling design. METHODS: Among military infants born from 2006 through 2014, a random sample of ICD-9-CM screen-positive cases (for six genitourinary birth defects) and screen-negative cases were selected for chart review. PPV, NPV, sensitivity, and specificity were calculated for individual defects and any included defect (i.e., overall); measures were weighted by the inverse probability of being sampled. RESULTS: Of 461,557 infants, 686 were sampled for chart review. Bladder exstrophy was accurately reported (PPV: >90%), while the accuracy of renal dysplasia, renal agenesis/hypoplasia, and hypospadias was moderate (PPVs: 66%-68%) and congenital hydronephrosis was low (PPV: 20%). Specificity and NPVs always exceeded 98%. The overall PPV was 50%; however, excluding congenital hydronephrosis screen-positive cases and requiring at least two inpatient or outpatient diagnostic codes resulted in a PPV of 85%. CONCLUSIONS: The validity of major genitourinary birth defect codes varied in MHS administrative data. The accuracy of an overall defect measure improved by omitting congenital hydronephrosis and requiring at least two diagnostic codes. Although PPV is generally useful for research, additional calculation of NPV, sensitivity, and specificity better informs the identification of appropriate selection criteria across surveillance and research settings.
Assuntos
Hidronefrose , Serviços de Saúde Militar , Anormalidades Urogenitais , Masculino , Lactente , Humanos , Classificação Internacional de Doenças , Bases de Dados Factuais , Anormalidades Urogenitais/diagnóstico , Anormalidades Urogenitais/epidemiologiaRESUMO
PURPOSE: The main objective of this study was to assess the overall incidence of genitourinary anomalies in patients with congenital scoliosis by providing the highest level of evidence. The secondary objective was to look for associations and trends influencing the incidence. METHODS: A meta-analysis using PubMed, Embase, Scopus, and the Cochrane Collaboration Library database was carried out. We included studies focusing on patients with congenital scoliosis and genitourinary anomalies. The main outcome was the incidence of genitourinary anomalies in congenital scoliosis. We also collected the following data: patient gender, type of deformity (formation, segmentation, or mixed), deformity location, and associated anomalies. We included cohort studies. Data was extracted from published reports and combined using Review Manager 5.4. The quality of the included studies was assessed independently by two authors using the Methodological Index for Non-Randomized Studies (MINORS) criteria. RESULTS: A total of eight cohort studies were included from a pool of 2781 patients. The incidence of genitourinary anomalies associated with congenital scoliosis was 22.91% (95% CI 13.39-32.43%). The incidence of surgically treated genitourinary anomalies was 13.92% (95% CI 4.54-23.31%). There were no differences related to gender (male 49.3% versus female 50.7%; p > 0.05). There were no differences regarding the type of deformity. The incidences of associated intraspinal, cardiac, musculoskeletal and craniofacial anomalies were 33.30%, 17.60%, 27.77% and 19.83% respectively. The most frequent genitourinary anomalies were: unilateral kidney (111/388); renal ectopia (50/367); obstructive uropathy (30/201), horseshoe kidney (30/313) and undescended testicle (16/180). CONCLUSIONS: The incidence of genitourinary anomalies associated with congenital scoliosis was 22.91%, and 13.92% were surgically treated. Unilateral kidney was the most common genitourinary abnormality. There were no differences between genders and deformity types. It is important to consider the association between genitourinary anomalies and intraspinal or musculoskeletal anomalies.
Assuntos
Escoliose , Anormalidades Urogenitais , Humanos , Masculino , Feminino , Escoliose/epidemiologia , Escoliose/cirurgia , Escoliose/complicações , Incidência , Estudos Retrospectivos , Estudos de Coortes , Anormalidades Urogenitais/epidemiologia , Anormalidades Urogenitais/complicaçõesRESUMO
Congenital anomalies of the kidney and urinary tract (CAKUT) result from disruptions in normal kidney and urinary tract development during fetal life and collectively represent the most common cause of kidney failure in children worldwide. The antenatal determinants of CAKUT are diverse and include mutations in genes responsible for normal nephrogenesis, alterations in maternal and fetal environments, and obstruction within the normal developing urinary tract. The resultant clinical phenotypes are complex and depend on the timing of the insult, the penetrance of underlying gene mutations, and the severity and timing of obstruction related to the sequence of normal kidney development. Consequently, there is a broad spectrum of outcomes for children born with CAKUT. In this review, we explore the most common forms of CAKUT and those most likely to develop long-term complications of their associated kidney malformations. We discuss the relevant outcomes for the different forms of CAKUT and what is known about clinical characteristics across the CAKUT spectrum that are risk factors of long-term kidney injury and disease progression.
Assuntos
Sistema Urinário , Anormalidades Urogenitais , Criança , Feminino , Humanos , Gravidez , Rim/anormalidades , Sistema Urinário/anormalidades , Anormalidades Urogenitais/complicações , Anormalidades Urogenitais/epidemiologia , Anormalidades Urogenitais/genética , Fatores de Risco , Progressão da DoençaRESUMO
PURPOSE: Although congenital anomalies of the kidney and urinary tract (CAKUT) are among the leading causes of end-stage kidney disease (ESKD) in children and young adults, kidney transplantation access for this population has not been well studied in the US. We compared transplantation access in the US based on whether the etiology of kidney disease was secondary to CAKUT, and additionally by CAKUT subgroups (anatomic vs. inherited causes of CAKUT). METHODS: Using the United States Renal Data System, we conducted a retrospective cohort study of 80,531 children and young adults who started dialysis between 1995 and 2015. We used adjusted Cox models to examine the association between etiology of kidney disease (CAKUT vs. non-CAKUT, anatomic vs. inherited) and receipt of kidney transplantation, and secondarily, receipt of a living vs. deceased donor kidney transplant. RESULTS: Overall, we found an increased likelihood of kidney transplantation access for participants with CAKUT compared to those without CAKUT (HR 1.23; 95% CI 1.20-1.27). Among the subset of individuals with CAKUT as the attributed cause of ESKD, we found a lower likelihood of kidney transplantation in those with anatomic causes of CAKUT compared to those with inherited causes of CAKUT (adjusted HR 0.85; 0.81-0.90). CONCLUSION: There are notable disparities in kidney transplantation rates among CAKUT subgroups. Those with anatomic causes of CAKUT started on dialysis have significantly reduced access to kidney transplantations compared to individuals with inherited causes of CAKUT who were initiated on dialysis. Further studies are needed to understand barriers to transplantation access in this population.
Assuntos
Nefropatias , Falência Renal Crônica , Transplante de Rim , Sistema Urinário , Anormalidades Urogenitais , Criança , Adulto Jovem , Humanos , Estudos Retrospectivos , Rim , Sistema Urinário/anormalidades , Falência Renal Crônica/cirurgia , Anormalidades Urogenitais/complicações , Anormalidades Urogenitais/cirurgia , Anormalidades Urogenitais/epidemiologiaRESUMO
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) are significant causes of pediatric morbidity and mortality. The spectrum of CAKUT can be part of a syndrome, but most of these abnormalities occur as isolated and sporadic forms. The etiology of human CAKUT is unknown in the majority of cases. This case-control study aimed to investigate the association between maternal characteristics and the occurrence of CAKUT and specific CAKUT phenotypes. METHODS: In this case-control study, 29,653 newborns were evaluated consecutively in a tertiary neonatal unit using the Latin American Collaborative Study of Congenital Malformations (ECLAMC) registry. Newborns without congenital anomalies were matched to CAKUT cases by sex, date, and place of birth at a ratio of 3:1. For analysis purposes, the cases were stratified into four subgroups: upper tract abnormalities (UTA), including ureteropelvic junction obstruction, vesicoureteral reflux, primary megaureter and others (n = 239), lower urinary tract obstruction (LUTO) (n = 79), cystic diseases (n = 59) and agenesis/hypodysplasia (n = 28). Multivariable logistic regression analyses were used to calculate crude and adjusted odds ratios (ORs) with 95% confidence intervals (CIs) for associations between the maternal risk factors and the presence of CAKUT. RESULTS: The prevalence of non-syndromic CAKUT in our sample was 13 per 1000 live births. Data records allowed the analysis of 405 cases and 1208 controls. After adjustment by the binary regression logistic, three covariates remained associated as risk factors for the entire spectrum of CAKUT: consanguinity (Odds ratio [OR], 7.1, 95%CI, 2.4-20.4), family history of CAKUT (OR, 6.4, 95%CI, 1.9-21.3), and maternal chronic hypertension (OR, 14.69, 95%CI, 3.2-67.5) (Figure). These risk factors persisted consistently across the various CAKUT phenotypes with minor variations. Consanguinity was the only factor consistently associated with almost all CAKUT phenotypes. Maternal hypertension was associated with all phenotypes except for the agenesis/hypodysplasia group. The prevalence of CAKUT cases was 15 times higher in hypertensive mothers (3%) compared to normotensive mothers (0.2%). CONCLUSION: Our study suggests that an increased risk of CAKUT is associated with consanguinity, a positive family history of CAKUT, and maternal hypertension. However, the prevalence of these risk factors in our cohort was rare and most cases presented as sporadic forms.
Assuntos
Hipertensão , Sistema Urinário , Anormalidades Urogenitais , Recém-Nascido , Humanos , Criança , Estudos de Casos e Controles , Rim/anormalidades , Sistema Urinário/anormalidades , Anormalidades Urogenitais/epidemiologia , Fatores de RiscoRESUMO
BACKGROUND: The aim of the study was to determine the prevalence of congenital anomalies of the kidney and urinary tract (CAKUT) in the neonatal intensive care unit (NICU) and to evaluate risk factors associated with worse outcomes. We hypothesized that infants with CAKUT with extra-renal manifestations have higher mortality. METHODS: This is a cohort study of all inborn infants who were diagnosed with any form of CAKUT discharged from NICUs managed by the Pediatrix Medical Group from 1997 to 2018. Logistic and linear regression models were used to analyze risk factors associated with in-hospital mortality. RESULTS: The prevalence of CAKUT was 1.5% among infants hospitalized in 419 NICUs. Among the 13,383 infants with CAKUT analyzed, median gestational age was 35 (interquartile range [IQR] 31-38) weeks and median birth weight was 2.34 (IQR 1.54-3.08) kg. Overall in-hospital mortality for infants with CAKUT was 6.8%. Oligohydramnios (adjusted odds ratio [aOR] 4.5, 95% confidence interval [CI] 2.2-9.1, p < 0.001), extra-renal anomalies (aOR 2.5, 95% CI 2.0-3.1, p < 0.001), peak SCr (aOR 1.02, 95% CI 1.01-1.03, p < 0.001) and exposure to nephrotoxic medications (aOR 1.4, 95% CI 1.1-1.7, p = 0.01) were associated with increased mortality, while a history of urological surgery or intervention was associated with lower mortality (aOR 0.6, 95% CI 0.4-0.7, p < 0.001). CONCLUSIONS: Infants hospitalized in the NICU who have CAKUT and the independent risk factors for mortality (e.g., oligohydramnios and presence of extra-renal anomalies) require close monitoring, minimizing of exposure to nephrotoxic drugs, and timely urological surgery or intervention. A higher resolution version of the Graphical abstract is available as Supplementary information.
Assuntos
Oligo-Hidrâmnio , Sistema Urinário , Anormalidades Urogenitais , Recém-Nascido , Gravidez , Feminino , Lactente , Humanos , Estado Terminal , Estudos de Coortes , Sistema Urinário/anormalidades , Rim/anormalidades , Anormalidades Urogenitais/epidemiologia , Anormalidades Urogenitais/diagnósticoRESUMO
OBJECTIVES: To study the reproductive outcomes of women with a unicornuate uterus and compare them to those of women with no congenital uterine anomaly. METHODS: This was a single-center, retrospective cohort study. Cases were women aged at least 16 years who were diagnosed with a unicornuate uterus on transvaginal/transrectal ultrasound between January 2008 and September 2021. Controls were women with no congenital uterine anomaly matched 1:1 by age and body mass index. The primary outcome was live-birth rate. Secondary outcomes were pregnancy loss (miscarriage, ectopic pregnancy, termination of pregnancy), preterm delivery, mode of delivery and concomitant gynecological abnormalities (endometriosis, adenomyosis, fibroids). RESULTS: Included in the study were 326 cases and 326 controls. Women with a unicornuate uterus had a significantly lower live-birth rate (184/388 (47.4%) vs 229/396 (57.8%); P = 0.004) and higher rates of overall miscarriage (178/424 (42.0%) vs 155/465 (33.3%); adjusted odds ratio (aOR), 2.21 (95% CI, 1.42-3.42), P < 0.001), ectopic pregnancy (26/424 (6.1%) vs 11/465 (2.4%); aOR, 2.52 (95% CI, 1.22-5.22), P = 0.01), preterm delivery (45/184 (24.5%) vs 17/229 (7.4%); aOR, 3.04 (95% CI, 1.52-5.97), P = 0.001) and Cesarean delivery (116/184 (63.0%) vs 70/229 (30.6%); aOR, 2.54 (95% CI, 1.67-3.88), P < 0.001). Rudimentary-horn pregnancies accounted for 7/26 (26.9%) ectopic pregnancies in the study group. Women with a unicornuate uterus were more likely to have endometriosis (17.5% vs 10.7%; P = 0.018) and adenomyosis (26.7% vs 15.6%; P = 0.001), but were not more likely to have fibroids compared with controls. Women with a functional rudimentary horn were more likely to have pelvic endometriosis compared to those without (odds ratio, 2.4 (95% CI, 1.4-4.1), P = 0.002). CONCLUSIONS: Pregnant women with a unicornuate uterus should be classified as high risk. Removal of a functional rudimentary horn should be discussed with the patient to prevent a rudimentary-horn ectopic pregnancy. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Assuntos
Aborto Espontâneo , Adenomiose , Endometriose , Gravidez Ectópica , Nascimento Prematuro , Anormalidades Urogenitais , Recém-Nascido , Gravidez , Feminino , Humanos , Masculino , Aborto Espontâneo/epidemiologia , Nascimento Prematuro/epidemiologia , Nascimento Prematuro/etiologia , Endometriose/complicações , Estudos Retrospectivos , Útero/diagnóstico por imagem , Útero/anormalidades , Anormalidades Urogenitais/diagnóstico por imagem , Anormalidades Urogenitais/epidemiologia , Anormalidades Urogenitais/complicações , Nascido VivoRESUMO
INTRODUCTION: Despite the well-established embryological relationship in the development of renal and Müllerian structures, no clear guidelines exist regarding screening for Müllerian anomalies (MA) in the setting of a renal anomaly (RA). Delayed diagnosis of MA can have significant reproductive consequences. OBJECTIVE: To investigate the prevalence of coexisting MA in patients with congenital RA. STUDY DESIGN: This is a retrospective cohort study of females age 12-35 years with a diagnosis of RA, identified by diagnosis codes, who were followed for care between 2013 and 2020. Data were collected on demographics, medical history, clinical presentation, and imaging studies. Descriptive statistics were used to summarize the data. This study was IRB approved. RESULTS: A total of 465 patients were included in this study, of whom 326 patients (70.3%) had a pelvic evaluation during the study period. Of these 326 patients, 125 (38.3%) were found to have coexistent MA. About one-third of patients who underwent pelvic evaluation due to pain were found to have MA. For 69.6% (87/125) of patients with MA, the RA was diagnosed prior to the MA. The average age at time of RA diagnosis was 6.4 ± 8.8 years and the average age of MA diagnosis was 16.4 ± 6.9 years. Forty-eight (38.4%) patients had obstructive anomalies. Of the Müllerian obstructions, 93.8% were treated with urgent surgery and the remainder started on hormonal suppression. The prevalence of MA was dependent on the RA diagnosis (Figure). Of patients with a solitary kidney, 67.1% were diagnosed with MA. For other parenchymal RA, the prevalence of MA was 20-23%. In patients with solitary kidney, uterus didelphys was the most common MA (52.1%). Thirty percent of patients with a solitary kidney were diagnosed with an obstructive MA. CONCLUSIONS: In this study, 38% of patients with RA who underwent a pelvic evaluation were found to also have MA. Our study shows the strongest association between MA and solitary kidney, but also emphasizes a significant risk with other RA. Almost 40% of patients with diagnosed MA were found to have an obstruction that required urgent treatment. Delays in diagnosis and treatment of Müllerian obstructions can be detrimental for future reproductive health, due to risk of chronic pain, infertility, infection, and endometriosis. Given the high prevalence of MA in patients with RA, especially those with congenital solitary kidney, routine screening with pelvic ultrasound should be performed around the age of expected menarche.
Assuntos
Nefropatias , Rim Único , Anormalidades Urogenitais , Feminino , Humanos , Criança , Adolescente , Adulto Jovem , Adulto , Rim Único/diagnóstico , Estudos Retrospectivos , Nefropatias/diagnóstico , Anormalidades Urogenitais/complicações , Anormalidades Urogenitais/diagnóstico , Anormalidades Urogenitais/epidemiologia , Rim/anormalidades , Útero/anormalidades , Vagina/anormalidadesRESUMO
RATIONALE & OBJECTIVE: Several maternal chronic diseases have been reported as risk factors for congenital anomalies of the kidney and urinary tract (CAKUT) in offspring. However, these investigations used case-control designs, and cases with isolated genitourinary CAKUT were not distinguished from cases in which CAKUT were present with extrarenal congenital anomalies (complicated CAKUT). We examined the association of maternal diseases with isolated and complicated CAKUT in offspring using data from a prospective cohort study. STUDY DESIGN: A nationwide prospective birth cohort study. SETTING & PARTICIPANTS: 100,239 children enrolled in the Japan Environment and Children's Study between January 2011 and March 2014 at 15 research centers. Physicians' diagnoses in mothers and children were collected from medical record transcripts and questionnaires. EXPOSURES: Medical histories of maternal noncommunicable diseases, including obesity, hypertension, diabetes mellitus, kidney disease, hyperthyroidism, hypothyroidism, psychiatric disease, epilepsy, cancer, and autoimmune disease. OUTCOMES: CAKUT diagnosed during the first 3 years of life, classified as isolated or complicated. ANALYTICAL APPROACH: Multivariable Poisson regression with generalized estimating equations accounting for clustering by clinical center. RESULTS: Among the 100,239 children, 560 (0.6%) had CAKUT, comprising 454 (81%) isolated and 106 (19%) complicated forms. The risk of isolated CAKUT was increased in children of mothers who experienced kidney disease (adjusted risk ratio [RR], 1.80 [95% CI, 1.12-2.91]) or cancer (RR, 2.11 [95% CI, 1.15-3.86]). Furthermore, the risk of complicated CAKUT was increased in children of mothers with diabetes mellitus (RR, 3.04 [95% CI, 1.64-5.61]). LIMITATIONS: Lack of standardization or prespecification of clinical definitions, diagnostic criteria, measurements, and testing. Genetic testing was not performed. CONCLUSIONS: Isolated CAKUTs and complicated CAKUTs were associated with different maternal diseases. The results may inform clinical management of pregnancy and highlight potential differences in the genesis of isolated and complicated forms of CAKUT.
Assuntos
Sistema Urinário , Anormalidades Urogenitais , Criança , Gravidez , Feminino , Humanos , Japão/epidemiologia , Estudos Prospectivos , Estudos de Coortes , Sistema Urinário/anormalidades , Rim/anormalidades , Anormalidades Urogenitais/epidemiologia , Doença CrônicaRESUMO
Large study hints that taking metformin before conception could raise risk of birth defects by affecting sperm.