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This study examined the seropositivity of T. gondii and coinfections with other TORCH pathogens among pregnant women attending 17 Basic Health Units (UBS) in Araçatuba, SP, Brazil. Of the 711 pregnant women seen at these UBS, only 297 were tested for T. gondii. Of the women tested for T. gondii (n = 297), 26.9% had IgG antibodies, 6.7% had IgM, and 32.0% tested positive for either or both. Only 1.4% showed both IgG and IgM antibodies, while 67.7% were non-reactive. The seropositivity was 17.1% for syphilis, 63.2% for rubella, 0.9% for hepatitis C, 0.9% for dengue, 17.9% for COVID-19, and 0.9% for herpes simplex (types 1/2). Coinfections with syphilis, rubella, and herpes simplex were also noted. Higher education levels appeared to protect against T. gondii seropositivity. The findings highlight a significant prevalence of T. gondii among pregnant women, with variation across UBSs, pointing to socioeconomic, behavioral, and environmental factors as influential. We also observed co-occurrence with other infections, such as syphilis, rubella, and herpes simplex. The study underscores the need for targeted public health interventions to reduce the risks of congenital infections.
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La prueba prenatal no invasiva es un método de cribado de aneuploidías fetales y de resultar con riesgo alto debe ser confirmado a través de prueba genética diagnóstica. Es la prueba de detección más sensible y específica para las aneuploidías fetales comunes y minimiza la realización de técnicas invasivas, solo para las gestantes con riesgo elevado. Se debe realizar asesoramiento genético pre- y poscribado. Este estudio tiene como objetivo describir los fundamentos básicos de la prueba prenatal no invasiva mediante el análisis del ácido desoxirribonucleíco libre circulante en plasma materno para cribado de aneuploidías, y de los métodos primordiales y avances en biología molecular incluyendo las tecnologías de secuenciación de nueva generación, que lo han facilitado, considerando sus beneficios y limitaciones al aplicarla en la práctica clínica, en este campo que cambia con tanta rapidez(AU)
The non-invasive prenatal test is a screening method for fetal aneuploidies and if the result is at high risk, it must be confirmed through diagnostic genetic test. It is the most sensitive and specific detection test for common fetal aneuploidies and minimizes the use of invasive techniques, only for pregnant women at high risk. Genetic counseling should be performed before and after screening. This study aims to describe the basic fundamentals of non-invasive prenatal testing by analyzing free circulating deoxyribonucleic acid in maternal plasma for aneuploidy screening, and the primary methods and advances in molecular biology, including next-generation sequencing technologies, which have facilitated it, considering its benefits and limitations when applying it in clinical practice, in this rapidly changing field(AU)
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Humanos , Femenino , Embarazo , Plasma , ADN , Tamizaje Masivo , Prevalencia , Factores de RiesgoRESUMEN
Abstract Hypoplastic left heart syndrome (HLHS) is characterized by underdevelopment of the left-sided heart structures. The prenatal diagnosis of this congenital heart disease is crucial because a newborn with undiagnosed HLHS often presents with clinical signs of low cardiac output once the ductus arteriosus begins to close. With that in mind, the aim of this article was to perform a non-systematic review focusing on the key ultrasound features that can be used in the prenatal diagnosis of HLHS. Severe forms of HLHS are characterized by a markedly abnormal four-chamber view of the fetal heart (small left atrium, hypoplastic left ventricle, or abnormal mitral valve). The left ventricular outflow tract view allows the degree of hypoplasia in the tract to be evaluated and the diameter of the ascending aorta to be measured. The Z-scores are intended to aid in the diagnosis and follow-up of HLHS. In mild forms of HLHS, a right ventricle/left ventricle length ratio > 1.28 was the strongest predictor of a univentricular outcome.
Resumo A síndrome do coração esquerdo hipoplásico (SCEH) é caracterizada pelo subdesenvolvimento das estruturas cardíacas do lado esquerdo. O diagnóstico pré-natal dessa cardiopatia congênita é crucial, uma vez que recém-nascido com SCEH não diagnosticado apresenta, frequentemente, sinais clínicos de baixo débito cardíaco, quando o canal arterial começa a se fechar. Por isso, o objetivo deste artigo foi realizar uma revisão não sistemática sobre as principais características ultrassonográficas que podem ser usadas no diagnóstico pré-natal da SCEH. As formas graves de SCEH são caracterizadas por plano de quatro câmaras marcadamente anormal (átrio esquerdo pequeno, ventrículo esquerdo hipoplásico, válvula mitral anormal) do coração fetal. A visualização da via de saída do ventrículo esquerdo permite a avaliação do grau de hipoplasia dessa via e a mensuração da aorta ascendente. Os escores Z têm como objetivo auxiliar no diagnóstico e acompanhamento da SCEH. Nas formas leves da SCEH, a relação comprimento do ventrículo direito/comprimento do ventrículo esquerdo > 1,28 foi a variável mais forte para identificar o desfecho univentricular.
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Hypoplastic left heart syndrome (HLHS) is characterized by underdevelopment of the left-sided heart structures. The prenatal diagnosis of this congenital heart disease is crucial because a newborn with undiagnosed HLHS often presents with clinical signs of low cardiac output once the ductus arteriosus begins to close. With that in mind, the aim of this article was to perform a non-systematic review focusing on the key ultrasound features that can be used in the prenatal diagnosis of HLHS. Severe forms of HLHS are characterized by a markedly abnormal four-chamber view of the fetal heart (small left atrium, hypoplastic left ventricle, or abnormal mitral valve). The left ventricular outflow tract view allows the degree of hypoplasia in the tract to be evaluated and the diameter of the ascending aorta to be measured. The Z-scores are intended to aid in the diagnosis and follow-up of HLHS. In mild forms of HLHS, a right ventricle/left ventricle length ratio > 1.28 was the strongest predictor of a univentricular outcome.
A síndrome do coração esquerdo hipoplásico (SCEH) é caracterizada pelo subdesenvolvimento das estruturas cardíacas do lado esquerdo. O diagnóstico pré-natal dessa cardiopatia congênita é crucial, uma vez que recém-nascido com SCEH não diagnosticado apresenta, frequentemente, sinais clínicos de baixo débito cardíaco, quando o canal arterial começa a se fechar. Por isso, o objetivo deste artigo foi realizar uma revisão não sistemática sobre as principais características ultrassonográficas que podem ser usadas no diagnóstico pré-natal da SCEH. As formas graves de SCEH são caracterizadas por plano de quatro câmaras marcadamente anormal (átrio esquerdo pequeno, ventrículo esquerdo hipoplásico, válvula mitral anormal) do coração fetal. A visualização da via de saída do ventrículo esquerdo permite a avaliação do grau de hipoplasia dessa via e a mensuração da aorta ascendente. Os escores Z têm como objetivo auxiliar no diagnóstico e acompanhamento da SCEH. Nas formas leves da SCEH, a relação comprimento do ventrículo direito/comprimento do ventrículo esquerdo > 1,28 foi a variável mais forte para identificar o desfecho univentricular.
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Purpose of Review: Review international efforts to build a global public health initiative focused on toxoplasmosis with spillover benefits to save lives, sight, cognition and motor function benefiting maternal and child health. Recent Findings: Multiple countries' efforts to eliminate toxoplasmosis demonstrate progress and context for this review and new work. Summary: Problems with potential solutions proposed include accessibility of accurate, inexpensive diagnostic testing, pre-natal screening and facilitating tools, missed and delayed neonatal diagnosis, restricted access, high costs, delays in obtaining medicines emergently, delayed insurance pre-approvals and high medicare copays taking considerable physician time and effort, harmful shortcuts being taken in methods to prepare medicines in settings where access is restricted, reluctance to perform ventriculoperitoneal shunts promptly when needed without recognition of potential benefit, access to resources for care, especially for marginalized populations, and limited use of recent advances in management of neurologic and retinal disease which can lead to good outcomes. Supplementary Information: The online version contains supplementary material available at 10.1007/s40124-022-00268-x.
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ABSTRACT Objective: To establish the oxidant/antioxidant status in serum samples from pregnant women above the threshold for Down syndrome (DS) risk, according to the quadruple test. Methods: Thirty maternal serum samples that were above the threshold for DS risk (study group) were chosen from pregnant women whose quadruple tests were studied at Ankara University Ibni Sina Hospital Central Laboratory. They were matched with the control group consisting of 30 pregnant women whose DS risk were below threshold. Malondialdehyde level, glutathione peroxidase and non-enzymatic superoxide radical scavenger activities (NSSAs) were analyzed in the study and control groups. Results: It was found that NSSA was significantly decreased in the study group as compared to the control group (p = 0.006). Malondialdehyde levels had a tendency to increase with gestational week in both groups (p = 0.042 in the study group and p < 0.001 in the control group). Conclusion: There is a significant decrease in non-enzymatic antioxidant capacity in pregnant women that were above the threshold for DS risk, as compared to the control group. In the context of these results, dietary antioxidant supplementation might be a useful approach during early gestation, especially around the time of conception, possibly to prevent bearing a DS fetus.
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BACKGROUND: Prediction of preeclampsia is a challenge to overcome. The vast majority of prospective studies in large general obstetric populations have failed in the purpose of obtain a useful and effective model of prediction, sometimes based on complex tools unavaible in areas where the incidence of preeclampsia is the highest. The goal of this study was to assess mean arterial blood pressure (MAP) levels at 19-21, 27-29 and 37-39 weeks of gestation and performance of screening by MAP for the prediction of preeclampsia in a Brazilian cohort of healthy nulliparous pregnant women. METHODS: This was a cohort approach to a secondary analysis of the Preterm SAMBA study. Mean arterial blood pressure was evaluated at three different time periods during pregnancy. Groups with early-onset preeclampsia, late-onset preeclampsia and normotension were compared. Increments in mean arterial blood pressure between 20 and 27 weeks and 20 and 37 weeks of gestation were also calculated for the three groups studied. The accuracy of mean arterial blood pressure in the prediction of preeclampsia was determined by ROC curves. RESULTS: Of the 1373 participants enrolled, complete data were available for 1165. The incidence of preeclampsia was 7.5%. Women with early-onset preeclampsia had higher mean arterial blood pressure levels at 20 weeks of gestation, compared to the normotensive group. Women with late-onset preeclampsia had higher mean arterial blood pressure levels at 37 weeks of gestation, than the normotensive groups and higher increases in this marker between 20 and 37 weeks of gestation. Based on ROC curves, the predictive performance of mean arterial blood pressure was higher at 37 weeks of gestation, with an area under the curve of 0.771. CONCLUSION: As an isolated marker for the prediction of preeclampsia, the performance of mean arterial blood pressure was low in a healthy nulliparous pregnant women group. Considering that early-onset preeclampsia cases had higher mean arterial blood pressure levels at 20 weeks of gestation, future studies with larger cohorts that combine multiple markers are needed for the development of a preeclampsia prediction model.
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Presión Arterial/fisiología , Preeclampsia/etiología , Preeclampsia/fisiopatología , Adulto , Brasil , Estudios de Cohortes , Femenino , Humanos , Paridad , Valor Predictivo de las Pruebas , Embarazo , Factores de RiesgoRESUMEN
OBJECTIVES: The US National Viral Hepatitis Action Plan calls for major efforts to expand hepatitis C virus (HCV) diagnosis and treatment; prenatal care settings are potential venues for expanding HCV testing. We aimed to characterize the HCV diagnostic cascade for women and infants and investigate factors associated with linkage and follow-up. STUDY DESIGN: We used electronic health records for a 10-year cohort of 879 women with opioid use disorder from an obstetric clinic serving women with substance use disorders. RESULTS: Altogether, 744 women (85%) were screened for HCV; 510 (68%) were seropositive, of whom 369 (72%) had nucleic acid testing performed and of these 261 (71%) were viremic. Of 404 infants born to HCV-seropositive women, 273 (68%) were tested at least once for HCV, 180 (45%) completed the American Academy of Pediatrics-recommended perinatal HCV screening, and 5 (2.8%) were diagnosed with HCV infection and linked to care. More recent delivery date (2014-2015) was associated with maternal linkage to care (aOR, 2.5; 95% CI, 1.4-4.7). Maternal coinfection with HIV (aOR, 9.0; 95% CI, 1.1-72.8) and methadone maintenance therapy, compared with buprenorphine (aOR, 1.5; 95% CI, 0.9-2.5), were associated with higher rates of infant HCV testing. CONCLUSIONS: HCV prevalence among pregnant women with opioid use is high and infant HCV screening is imperfect. Programmatic changes to improve both mother and infant follow-up may help to bridge identified gaps in the cascade to cure.
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Continuidad de la Atención al Paciente/estadística & datos numéricos , Hepatitis C/diagnóstico , Hepatitis C/transmisión , Transmisión Vertical de Enfermedad Infecciosa , Tamizaje Neonatal , Complicaciones Infecciosas del Embarazo/diagnóstico , Adulto , Boston/epidemiología , Estudios de Cohortes , Coinfección , Femenino , Infecciones por VIH/epidemiología , Humanos , Recién Nacido , Tratamiento de Sustitución de Opiáceos/estadística & datos numéricos , Trastornos Relacionados con Opioides/tratamiento farmacológico , Trastornos Relacionados con Opioides/epidemiología , Embarazo , Sistema de RegistrosRESUMEN
INTRODUCTION: In non-endemic countries, one of the most important routes of transmission of Trypanosoma cruzi is vertical transmission. The objective of this work is to report the results of the screening activities for the control of congenital Chagas Disease (CD) implemented in Bergamo province between January 2014 and December 2016. METHODS: The programme addressed Bolivian pregnant women settled in Bergamo province. All the eight hospitals offering antenatal and delivery care in that area were involved. We retrospectively calculated the coverage rate of the screening programme, the prevalence of CD in this population, as well as transmission rate to their offspring. RESULTS: During the study period, 376 Bolivian women accounted for 387 deliveries. The coverage rate of serologic screening was 85.6%. Confirmed seropositive women were 28, accounting for a prevalence of CD of 8.7% (95% IC 5.9-11.5). Among 29 children born to positive mothers, one infected child was detected (transmission rate of 4.3%, 95% IC 0-12.6) and treated accordingly. Other 13 children previously born from the same mothers were retrieved and tested for CD: no additional congenital cases were diagnosed. DISCUSSION: Our screening programme presented a high coverage, although widely variable in the different birthing facilities. National guidelines recommending CD testing in pregnant women would help to increase case detection countrywide.
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Enfermedad de Chagas/epidemiología , Enfermedad de Chagas/prevención & control , Control de Enfermedades Transmisibles/métodos , Bolivia , Enfermedad de Chagas/tratamiento farmacológico , Femenino , Humanos , Recién Nacido , Italia , Masculino , Nitroimidazoles/uso terapéutico , Embarazo , Complicaciones Parasitarias del Embarazo/epidemiología , Factores de Riesgo , Tripanocidas/uso terapéutico , Trypanosoma cruziRESUMEN
Se reporta un nuevo signo ecográfico observado en un feto de 22 semanas portador de trisomía 18 o síndrome de Edwards, que consiste en hiperextensión permanente de ambos dedos índices (signo que le denominamos dedo puntero) asociado a artrogriposis de las muñecas. La relevancia del hallazgo está en que podría reconocerse como un marcador más en el tamizaje de esta patología.
A new ultrasound sign observed in a 22-week fetus with trisomy 18 or Edwards syndrome, consisting of permanent hyperextension of both index fingers (sign named "pointer finger"), and associated with arthrogryposis of wrists is reported. The relevance of this finding is that it could be recognized as another marker in the screening for this disease.
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Suicide is one of the major causes of preventable death. We evaluated suicidality among pregnant women who participated in prenatal care in Brazil. A total of 255 patients were assessed using semi-structured interviews as well as the Edinburgh Postnatal Depression Scale (EPDS), Beck Depression Inventory (BDI), and Mini-International Neuropsychiatric Interview (MINI) Plus. Thereafter, Stata 12 was used to identify the significant predictors of current suicide risk (CSR) among participants using univariate and multivariate analyses (p < 0.05). According to MINI Plus module C, the lifetime suicide attempt rate was 12.55%. The overall CSR was 23.53%, distributed across risk levels of low (12.55%), moderate (1.18%), and high (9.80%). Our rates approximate those found in another Brazilian study (18.4%). Antenatal depression (AD), lifetime bipolar disorder, and any current anxiety disorder (as measured using the MINI) as well as BDI scores ≥15 and EPDS scores ≥11 were identified as positive risk factors in a univariate analysis (p < 0.001). These factors changed after a multivariate analysis was employed, and only years of education [odds ratio (OR) = 0.45; 95% confidence intervals (CIs) = 0.21-0.99], AD (OR = 3.42; 95% CIs = 1.37-8.53), and EPDS scores ≥11 (OR = 4.44; 95% CIs = 1.97-9.97) remained independent risk factors. AD and other psychiatric disorders were the primary risk factors for suicidality, although only the former remained an independent factor after a multivariate analysis. More than 10 years of education and EPDS scores ≥11 were also independent factors; the latter can be used as a screening tool for suicide risk.
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Trastornos Mentales/epidemiología , Complicaciones del Embarazo/epidemiología , Mujeres Embarazadas/psicología , Suicidio/psicología , Suicidio/estadística & datos numéricos , Adolescente , Adulto , Trastornos de Ansiedad/diagnóstico , Trastornos de Ansiedad/epidemiología , Trastornos de Ansiedad/psicología , Brasil/epidemiología , Depresión/diagnóstico , Depresión/epidemiología , Depresión/psicología , Trastorno Depresivo/diagnóstico , Trastorno Depresivo/epidemiología , Trastorno Depresivo/psicología , Femenino , Humanos , Entrevistas como Asunto , Masculino , Trastornos Mentales/diagnóstico , Persona de Mediana Edad , Embarazo , Segundo Trimestre del Embarazo , Diagnóstico Prenatal , Prevalencia , Escalas de Valoración Psiquiátrica , Factores de Riesgo , Adulto JovenRESUMEN
INTRODUCCIÓN. El objetivo de esta investigación fue determinar la significación y evolución imaginológica de la pielectasia en recién nacidos con este diagnóstico. MÉTODOS. Se realizó un estudio descriptivo, retrospectivo y prospectivo de 261 recién nacidos con diagnóstico de pielectasia, atendidos en la consulta de neonatología del Hospital Pediátrico Universitario Juan Manuel Márquez, desde 1995 hasta 2007. Los estadígrafos utilizados fueron frecuencias absolutas y cifras porcentuales, mediana y cuartiles. Se aplicó además la prueba de diferencia de proporciones. Los pacientes fueron evaluados por clínica y por estudios de radioimagen para precisar causa y evolución de la pielectasia. RESULTADOS. Predominó la pielectasia diagnosticada en la etapa posnatal (52,1 por ciento) frente a la prenatal. La pielectasia prenatal se confirmó en el 93,6 por ciento de los casos posnatalmente. La mayoría de los niños presentaron dilatación de grado ligero (73,5 por ciento) y, sobre todo, unilateral izquierda. Las pielectasias no asociadas a anomalías del tracto urinario tuvieron generalmente una evolución transitoria y desaparecieron en los primeros meses de la vida (mediana de desaparición: 6 meses); en algunos niños ésta se mantuvo (mediana de seguimiento: 17,5 meses). La anomalía del tracto urinario más frecuentemente asociada a la pielectasia fue el reflujo vesicoureteral y, de manera significativa, cuando se hizo el diagnóstico de pielectasia en la etapa posnatal. CONCLUSIONES. La pielectasia se encuentra tanto por pesquisa prenatal como por evaluación posnatal. Estas pielectasias generalmente son transitorias y desaparecen en un tiempo de seguimiento variable, pero también pueden ser expresión de la presencia de alguna anomalía del tracto urinario, más comúnmente por reflujo vesicoureteral. Recomendamos el seguimiento clínico continuo y a largo plazo de estos pacientes
INTRODUCTION. The aim of present research was to determine the imaging significance and course of the pyelectasia in newborns with this diagnosis. METHODS. A prospective, retrospective and descriptive study was conducted in 261 newborns diagnosed with pyelectasia, seen in the Neonatology consultation of the Juan Manuel Márquez Children and University Hospital from 1995 to 2007. The statistical methods used were the absolute frequencies and the percentage figures, mean and quartiles. Also, the ratio difference test was applied. Patients were assessed according clinic and by radioimage studies to specify exactly the cause and course of pyelectasia. RESULTS. There was predominance of pyelectasia diagnosed during the postnatal stage (52,1 percent) versus the prenatal one. The prenatal pyelectasia was confirmed after birth in the 93,6 percent of cases. Most of children had a slight dilatation (73,5 percent) and mainly the left unilateral. The pyelectasias non-associated with anomalies of urinary tract had generally a transient course and disappeared during the first months of life (disappearance mean: 6 months); in some children this condition remained (follow-up mean: 17,5 months). The more frequent anomaly of the urinary tract was the vesicoureteral flow and in a significant way when diagnosis pyelectasia was made during the postnatal stage. CONCLUSIONS. The pyelectasia is found by prenatal screening or by postnatal assessment. These pyelectasias generally are transient and disappear in a variable follow-up time but also they may be the expression of the presence of some anomaly of the urinary tract, more commonly due to vesicoureteral reflux. Authors recommended the continuous clinical and long-term follow-up of these patients
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Humanos , Masculino , Femenino , Recién Nacido , Hidronefrosis/etiología , Hidronefrosis , Epidemiología Descriptiva , Estudios Prospectivos , Estudios RetrospectivosRESUMEN
By 1997, an open cohort of 1,652 live newborn of 1,637 mothers with gestational toxoplasmosis had been recruited in the Campania region to monitor the burden of congenital toxoplasmosis (CT). Of the 1,556 mother-child pairs that completed the follow up, 92 definite cases were detected, yielding a 5.9 percent (4.8-7.1 95 percent CI) transmission rate. The onset was patent for 43 percent of patients and sensorineural complications were shown for a further 15 percent of subclinical onset patients later than two years of age. The overall prevalence of toxoplasmosis during gestation was 2.46 of 1,000 deliveries, while the prevalence of definite CT was 1.38 of 10,000 live newborns. However, there is still room for intervention, as only 23 percent of the maternal diagnoses were proven through seroconversion, 63 of the late-gestation seroconverters remained untreated, and six probable CT diagnoses were made following referrals due to patent sequelae and born during the study period. There was a positive secular trend on the rates of infant referral and definite CT diagnosis, according to the live birth rate (Ç2 for trend < 0.001). Extension of this surveillance system across the country could help to define a future strategy for prevention.
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Animales , Femenino , Humanos , Recién Nacido , Embarazo , Anticuerpos Antiprotozoarios/sangre , Transmisión Vertical de Enfermedad Infecciosa/prevención & control , Tamizaje Neonatal/métodos , Evaluación de Procesos y Resultados en Atención de Salud , Complicaciones Parasitarias del Embarazo/diagnóstico , Toxoplasmosis Congénita/diagnóstico , Antiprotozoarios/administración & dosificación , Estudios de Cohortes , Italia/epidemiología , Diagnóstico Prenatal , Prevalencia , Complicaciones Parasitarias del Embarazo/tratamiento farmacológico , Complicaciones Parasitarias del Embarazo/epidemiología , Toxoplasmosis Congénita/epidemiología , Toxoplasmosis Congénita/prevención & controlRESUMEN
Antecedentes: la mayor utilización de ecografía prenatal y procedimientos diagnósticos invasivos ha permitido mejorar la identificación de malformaciones fetales al nacimiento. El dilema conlleva un riesgo relacionado con el procedimiento, por lo que los médicos siguen lidiando con la manera de identificar las pacientes con riesgo elevado para no someter a las de bajo riesgo a procedimientos diagnósticos innecesarios. En el presente estudio nos hemos planteado describir las diferentes indicaciones para el diagnóstico genético invasivo de alteraciones cromosómicas en una población seleccionada de Bogotá D.C. Pacientes y métodos: se realizó un estudio descriptivo de corte transversal entre el 1 de agosto de 2005 y el 31 de diciembre de 2007. Se revisaron las historias clínicas de embarazadas remitidas con indicación de estudio genético invasivo por anomalías cromosómicas. Resultados: se analizaron 374 embarazos, de los cuales el 98,9% (n=370) eran simples y el 1,1% (n=4) correspondían a gemelares, para un total de 378 análisis del cariotipo fetal. La edad materna promedio fue de 35 años y la gestacional promedio de 17,4 semanas. Se realizaron 366 amniocentesis (96,8%) y 12 biopsias de vellosidades coriónicas (3,2%). El estudio citogenético más solicitado fue el cariotipo 64,8% (n=245) y en 33,6% (n=127) de los casos se hizo análisis por FISH y cariotipo. Entre las indicaciones para solicitar estudio genético invasivo se destacan la edad materna con 35,7% (n=135), seguida de malformaciones menores ecográficas 14,8% (n=56), tamizaje segundo trimestre 9,3% (n=35), sonolucencia nucal aumentada 6,9% (n=26) y malformaciones mayores ecográficas 6,3% (n=24). Se reportaron 54 estudios citogenéticos alterados (14,3%); de ellos, 36 correspondieron a aneuploidías (66,67%) y dieciocho a variaciones estructurales (33,33%). Cuando la edad materna fue la única indicación de un procedimiento invasivo, sólo se detectó el 6,66% de cariotipos alterados, mientras que en el grupo...
Antecedents: increased use of prenatal ultrasound and invasive diagnostic procedures has improved the detection of congenital fetal defects. The dilemma entails a procedure-related risk for which physicians continue to put up with a way to identify highrisk patients to avoid unnecessary diagnostic procedures in low-risk patients. This population-based study, conducted in Bogotá D.C., describes the various indications for an invasive genetic study to identify chromosomal abnormalities. Patients and methods: this is a descriptive cross-sectional study performed between August 1st 2005 and December 31st 2007. The clinicalrecords of pregnant women referred with an indication for invasive prenatal testing due to chromosomal abnormalities were reviewed. Results: 374 pregnancies were assessed, where 98.9% (n=370) were single pregnancies and 1.1% (n=4) twin pregnancies, thus, 378 fetal karyotype analyses were conducted. The mean age was 35 years and the mean gestational age was 17.4 weeks. We performed 366 amniocentesis (96.8%) and 12 choryonic villus sampling (3.2%). Karyotype analysis was the most frequently requested cytogenetic study accounting for 64.8% (n=245) of cases and FISH and karyotype analyses wereperformed in 33.6% (n=127). Advanced maternal age in 35.7% (n=135) was the main indication for invasive genetic studies request, followed by minor malformations detected by ultrasound 14.8% (n=56), second-trimester screening 9.3% (n=35), enhanced nuchal translucency 6.9% (n=26) and major defects detected by ultrasound 6.3% (n=24). Fifty-four (54) cytogenetic studies were reported as abnormal (14.3%); 36 corresponding to aneuploidy (66.67%) and 18 to structural variations (33.33%). Only 6.66% abnormal karyotypes were determined when maternal age was the only indication for an invasive procedure, while aneuploidy was diagnosed in the minor or major defect or nuchal translucency groups in 25%, 29% and 26% respectively...
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Humanos , Femenino , Embarazo , Anomalías Congénitas , Enfermedades Genéticas Congénitas , Diagnóstico Prenatal , Síndrome , Síndrome de Down , Medida de Translucencia Nucal , Cariotipo , CariotipificaciónRESUMEN
O diabetes mellitus gestacional é a mais comum das alterações metabólicas e uma das mais frequentes complicações clínicas que acometem a gravidez. A sua ocorrência está associada ao aumento de resultados adversos maternos e perinatais. Tais intercorrências não se restringem à duração do ciclo gravídico-puerperal, pois podem acarretar consequências de médio e longo prazos para a mãe e o recém-nascido. Esta revisão bibliográfica teve como objetivo analisar a evolução dos critérios e procedimentos empregados para a detecção e assistência às portadoras de diabetes gestacional, com ênfase no conteúdo dos protocolos recomendados atualmente por algumas das mais importantes entidades científicas nacionais e internacionais. Confirmou-se a grande heterogeneidade existente entre esses protocolos, fato que reflete a ausência de evidências científicas definitivas acerca da melhor metodologia de rastreamento e diagnóstico da doença. Como consequência, qualquer análise mais precisa da relação entre os valores da glicemia materna e o prognóstico materno-fetal encontra-se prejudicada. Entretanto, mais recentemente, alguns estudos importantes documentaram os benefícios do controle adequado do diabetes gestacional. Essas pesquisas geraram uma expectativa mais otimista de resposta aos principais questionamentos que ainda persistem na literatura: se o screening deve ou não ser realizado, qual o tipo mais adequado de rastreio e quais os níveis de hiperglicemia materna que estão diretamente relacionados aos maus resultados perinatais.
Gestational diabetes is the most common of the metabolic changes and one of the most frequent clinical complications that strike during pregnancy. Its occurrence is associated with an increase in adverse maternal and perinatal consequences. These intercurrences are not restricted only to the duration of the pregnant-puerperal cycle, as they can have medium and long term consequences for the mother and the newborn. The goal of this bibliographical review is to analyze the evolution of the criteria and procedures adopted to detect and care for patients with gestational diabetes, with emphasis on the content of guidelines presently recommended by some of the most important domestic and international scientific entities. The study confirmed the heterogeneity existing between these guidelines, which is a reflection of the lack of definitive scientific evidence surrounding the best methodology to screen and diagnose the illness. As a consequence, a more precise analysis of the relation between the levels of maternal glycemia and the maternal-fetal prognosis is impaired. However, more recently, some important studies have documented the benefits of proper control of gestational diabetes. These studies have led to a more optimistic expectation to find the answers to the main questions that still remain in the literature: whether screening should or should not be performed, what is the most appropriate type os screening and which levels of maternal hyperglycemia are directly related with bad perinatal results.