RESUMEN
Congenital heart diseases are a common prenatal finding. The prenatal identification of an associated genetic syndrome or a major extracardiac anomaly helps to understand the etiopathogenic diagnosis. Besides, it also assesses the prognosis, management, and familial recurrence risk while strongly influences parental decision to choose termination of pregnancy or postnatal care. This review article describes the most common genetic diagnoses associated with a prenatal finding of a congenital heart disease and a suggested diagnostic process.
Asunto(s)
Aberraciones Cromosómicas/embriología , Enfermedades Fetales/genética , Cardiopatías Congénitas/genética , Femenino , Enfermedades Fetales/diagnóstico por imagen , Cardiopatías Congénitas/diagnóstico por imagen , Humanos , Embarazo , Recurrencia , Ultrasonografía PrenatalRESUMEN
We report the case of a father and son diagnosed with atypical chronic myeloid leukemia (aCML). Both patients harbored SETBP1 mutations, which are present in 24.3% of aCML patients. Moreover, both shared the variant encoding p.Pro737His, but the aCML severity was greater in the son because of the presence of two other missense mutations causing p.Asp868Asn and p.Ser885Arg alterations. SETBP1 mutations may be associated with an adverse prognosis, so their detection would help in the diagnosis of aCML and the determination of a patient's prognosis.
Asunto(s)
Animales , Femenino , Masculino , Ratones , Embarazo , Aberraciones Cromosómicas/estadística & datos numéricos , Técnicas de Cultivo de Embriones , Impresión Genómica , Enfermedades Placentarias/genética , Placenta/metabolismo , Técnicas Reproductivas Asistidas/efectos adversos , Blastocisto/citología , Aberraciones Cromosómicas/embriología , Embrión de Mamíferos , Epigénesis Genética , Técnicas de Cultivo de Embriones/estadística & datos numéricos , Incidencia , Enfermedades Placentarias/patología , Placenta/patología , Técnicas Reproductivas Asistidas/estadística & datos numéricos , Procesos EstocásticosRESUMEN
La esquizofrenia es un trastorno mental que afecta a la población mundial, con una prevalencia del 1 por ciento y con heredabilidad hasta del 80 por ciento. Los estudios de ligamiento genético, convergencia genómica, asociación y aberraciones cromosómicas han contribuido a la identificación de genes de susceptibilidad y a establecer marcadores moleculares asociados con la esquizofrenia. Con esta revisión se logró extender el conocimiento sobre los antecedentes, clasificación vigente, epidemiología, diagnóstico de la enfermedad y enfatizar en las aberraciones cromosómicas reportadas en individuos con esquizofrenia como parte de los factores genéticos hallados en esta patología. Se consultaron artículos publicados y archivados en bases de datos científicas, adquiriendo un acercamiento hacia la estimación de la frecuencia de estos hallazgos, que nos permitirá continuar evaluando la posible asociación de la Esquizofrenia con las Aberraciones Cromosómicas(AU)
Schizophrenia is a mental disorder affecting world population, with a prevalence of 1 percent and inheritability to 80 percent. Studies of genetic linkage, genomic convergence, and of chromosome association and aberrations, have contributed to susceptibility gene identification and to establish molecular markers associated to schizophrenia. With this review, knowledge about the antecedents has possibly been extended to the valid classification, epidemiology and diagnosis of the disease, and to emphasize in chromosomal aberrations reported in patients with schizophrenia as a part of the genetic factors found in this pathology. Several published and archived articles in scientific databases were consulted, thus enabling us to obtain a close approach to the estimation of the frequency of these findings, and allowing to continue evaluating the possible association of Schizophrenia with chromosome aberrations(AU)
Asunto(s)
Humanos , Esquizofrenia/genética , Aberraciones Cromosómicas/embriologíaRESUMEN
OBJECTIVE: The aim of this study was to evaluate pregnancy and postnatal outcomes of fetuses with increased nuchal translucency thickness (NT) and normal karyotype. METHODS: Two hundred seventy five fetuses with increased NT were examined with karyotyping analysis, serial ultrasound scans, echocardiography and postnatal clinical and genetic evaluation at the Fetal Medicine Unit - Department of Obstetrics - São Paulo University. RESULTS: The karyotype was abnormal in 14.2% of the cases and normal in 85.8%. In cases with normal karyotype 24.7% presented structural abnormalities at the anomaly scan, one third of these were major malformations with 35.7% of heart defects. Adverse pregnancy outcome such as miscarriages, intrauterine and neonatal deaths occurred in 10.2% of cases. Of the infants 72.7% had postnatal examination, with 14.8% presenting abnormalities. Chances of having a live and healthy child decreased with increased NT thickness, and were of 37.5% for NT above 4.5mm. CONCLUSION: In cases with increased NT thickness and normal karyotype, the frequency of fetal malformations, especially heart defects, adverse pregnancy outcome and postnatal abnormalities is related to the NT thickness.
Asunto(s)
Cardiopatías Congénitas , Medida de Translucencia Nucal , Brasil/epidemiología , Niño , Preescolar , Aberraciones Cromosómicas/embriología , Métodos Epidemiológicos , Femenino , Desarrollo Fetal , Cardiopatías Congénitas/diagnóstico por imagen , Cardiopatías Congénitas/epidemiología , Cardiopatías Congénitas/genética , Humanos , Lactante , Recién Nacido , Cariotipificación , Nacimiento Vivo/epidemiología , Nacimiento Vivo/genética , Atención Posnatal , Embarazo , Valores de ReferenciaRESUMEN
OBJETIVO: O objetivo do presente estudo foi avaliar a evolução pré e pós-natal dos fetos com translucência nucal (TN) aumentada e cariótipo normal. MÉTODOS: Duzentos e setenta e cinco fetos com TN aumentada foram avaliados no setor de Medicina Fetal da Clínica Obstétrica do HC-FMUSP. Esses casos foram submetidos à avaliação do cariótipo, ultrassonografia seriada, ecocardiografias fetal e pós-natal e avaliação clínica genética pós-natal. RESULTADOS: Em 14,2 por cento dos casos, o cariótipo esteve alterado e em 85,8 por cento o cariótipo ou fenótipo foi normal. Nos casos com cariótipo normal, a ultrassonografia morfológica de segundo trimestre esteve alterada em 24,7 por cento, destes, um terço apresentou malformações estruturais maiores, sendo 35,7 por cento cardíacas. Resultados gestacionais adversos, como abortamento, óbitos intraútero e neonatal ocorreram em 10,2 por cento dos casos. A avaliação pós-natal foi realizada em 72,7 por cento das crianças, mostrando-se alterada em 14,8 por cento. A frequência de criança viva e saudável diminuiu com o aumento da medida da TN, sendo de 37,5 por cento quando a TN foi igual ou maior que 4,5 mm. CONCLUSÃO: Nos fetos com TN aumentada e cariótipo normal, quanto maior a medida da TN maior a frequência de malformações estruturais, em especial defeitos cardíacos, resultados gestacionais adversos e alterações na avaliação pós-natal.
OBJECTIVE: The aim of this study was to evaluate pregnancy and postnatal outcomes of fetuses with increased nuchal translucency thickness (NT) and normal karyotype. METHODS: Two hundred seventy five fetuses with increased NT were examined with karyotyping analysis, serial ultrasound scans, echocardiography and postnatal clinical and genetic evaluation at the Fetal Medicine Unit - Department of Obstetrics - São Paulo University. RESULTS: The karyotype was abnormal in 14.2 percent of the cases and normal in 85.8 percent. In cases with normal karyotype 24.7 percent presented structural abnormalities at the anomaly scan, one third of these were major malformations with 35.7 percent of heart defects. Adverse pregnancy outcome such as miscarriages, intrauterine and neonatal deaths occurred in 10.2 percent of cases. Of the infants 72.7 percent had postnatal examination, with 14.8 percent presenting abnormalities. Chances of having a live and healthy child decreased with increased NT thickness, and were of 37.5 percent for NT above 4.5mm. CONCLUSION: In cases with increased NT thickness and normal karyotype, the frequency of fetal malformations, especially heart defects, adverse pregnancy outcome and postnatal abnormalities is related to the NT thickness.
Asunto(s)
Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Embarazo , Cardiopatías Congénitas , Medida de Translucencia Nucal , Brasil/epidemiología , Aberraciones Cromosómicas/embriología , Métodos Epidemiológicos , Desarrollo Fetal , Cardiopatías Congénitas/epidemiología , Cardiopatías Congénitas/genética , Cardiopatías Congénitas , Cariotipificación , Nacimiento Vivo/epidemiología , Nacimiento Vivo/genética , Atención Posnatal , Valores de ReferenciaRESUMEN
OBJECTIVE: To describe a de novo complex chromosome rearrangement(CCR) detected prenatally and studied afterbirth. METHODS: Conventional cytogenetics and fluorescent in situ hybridization (FISH) were performed on amniotic fluid and peripheral blood. High-resolution comparative genomic hybridization (HR-CGH) analysis was made postnatally. RESULTS: Prenatal/postnatal cytogenetic, FISH and HR-CGH analyses revealed an apparently balanced de novo CCR ascertained as 46,XY,t(2; 3;9)(q21;p24;q22),der(5)inv(5)(?p11q13)t(5; 11)(?p13;q25),ins(5; 3)(?p13;?p23p24). At 9 months,the child has neither congenital anomalies nor evidence of delayed psychomotor development. CONCLUSIONS: Our report describes a rare CCR detected prenatally and shows the usefulness of FISH and CGH in complementing conventional cytogenetics.
Asunto(s)
Aberraciones Cromosómicas/embriología , Cromosomas Humanos Par 11 , Cromosomas Humanos Par 2 , Cromosomas Humanos Par 3 , Cromosomas Humanos Par 5 , Cromosomas Humanos Par 9 , Análisis Citogenético/métodos , Diagnóstico Prenatal/métodos , Adulto , Bandeo Cromosómico , Femenino , Asesoramiento Genético , Pruebas Genéticas , Humanos , Hibridación Fluorescente in Situ , Lactante , Nacimiento Vivo , Hibridación de Ácido Nucleico , EmbarazoRESUMEN
This study was designed to investigate the effect of vitrification and post-thaw survival and chromosomal aberrations caused by vitrification of vitrified 8-cell mouse embryos in comparison with a control group. To this purpose the survival rate and the frequency of chromosomal aberrations were assessed in frozen-thawed 8-cell mouse embryos after various storage durations in the presence of ethylene glycol as cryoprotectant. eight-cell mouse embryos were obtained from NMRI mice 3 days after mating. Retrieved embryos were transferred to vitrification solution containing ethylene glycol as cryoprotectant, then transferred into a vitrification straw using standard technique, and vitrified in liquid nitrogen. Six groups of embryos according to storage duration (24 hours, 1 and 2 weeks, 1-6 months) were frozen. After appropriate storage periods embryos were thawed and studied for their viability 4-6 hours after thawing and intact embryos were transferred to fresh medium containing colcemid. After 48 hours, the embryos were fixed and studied for their chromosome abnormalities using Tarkowsky's drying technique. Results indicate that freezing affects the viability and chromosome structure of embryos when compared with the control group. Furthermore increasing the storage duration reduces the viability and increases the chromosome aberrations of embryos (such as aneuploidy and polyploidy). This result might indicate that the effects of vitrification on the cytoskeleton or other cellular organelle might produce chromosomal alterations leading to cell death.
Asunto(s)
Aberraciones Cromosómicas/embriología , Criopreservación , Crioprotectores/farmacología , Embrión de Mamíferos/anomalías , Glicol de Etileno/farmacología , Congelación , Animales , Ratones , Factores de TiempoRESUMEN
OBJECTIVE: To learn about parental decisions to abort or continue a pregnancy after prenatal diagnosis of chromosomal abnormalities among the population in Uruguay. METHODS: Between 1982 and 2003, 14 656 amniocentesis and 2740 chorionic villus samplings were performed in a referral Genetic Unit. Chromosomal anomalies were found in 376 cases (2.16%) and included Down syndrome, aneuploidies in which a severe prognosis was expected, sex chromosome aneuploidy and aneuploidies with a low risk of an abnormal clinical phenotype. The couples that received abnormal results were contacted by phone and asked if they had continued or interrupted the pregnancy after the diagnosis and genetic counseling. RESULTS: We contacted 207 couples (55%). When confronted with Down syndrome or an aneuploidy in which a severe prognosis was expected, 89% and 96% of patients, respectively, decided to terminate the pregnancy. When confronted with sex chromosome aneuploidy or aneuploidies with a low risk of an abnormal clinical phenotype, 79% and 90% of patients, respectively, decided to continue the pregnancy. CONCLUSIONS: The present study shows that when faced with an anomaly such as Down syndrome and aneuploidies in which a severe prognosis was expected, most of the couples decided to terminate the pregnancy, although TOP is not legally available in Uruguay.
Asunto(s)
Aborto Eugénico/psicología , Aberraciones Cromosómicas/embriología , Trastornos de los Cromosomas/diagnóstico , Toma de Decisiones , Aborto Criminal/estadística & datos numéricos , Aborto Eugénico/legislación & jurisprudencia , Amniocentesis , Muestra de la Vellosidad Coriónica , Síndrome de Down/diagnóstico , Femenino , Humanos , Embarazo , UruguayRESUMEN
This study was desµgned to investµgate the effect of vitrification and post-thaw survival and chromosomal aberrations caused by vitrification of vitrified 8-cell mouse embryos in comparison with a controligroup. To this purpose the survival rate and the frequency of chromosomal aberrations were assessed in frozen-thawed 8-cell mouse embryos after various storage durations in the presence of ethyleneiglycol as cryoprotectant. eight-cell mouse embryos were obtained from NMRI mice 3 days after mating. Retrieved embryos were transferred to vitrification solution containing ethyleneiglycol as cryoprotectant, then transferred into a vitrification straw using standard technique, and vitrified in liquid nitrogen. Sixigroups of embryos according to storage duration (24 hours, 1 and 2 weeks, 1-6 months) were frozen. After appropriate storage periods embryos were thawed and studied for their viability 4-6 hours after thawing and intact embryos were transferred to fresh medium containing colcemid. After 48 hours, the embryos were fixed and studied for their chromosome abnormalities using Tarkowsky's drying technique. Results indicate that freezing affects the viability and chromosome structure of embryos when compared with the controligroup. Furthermore increasing the storage duration reduces the viability and increases the chromosome aberrations of embryos (such as aneuploidy and polyploidy). This result mµght indicate that the effects of vitrification on the cytoskeleton or other cellular organelle mµght produce chromosomal alterations leading to cell death.
Asunto(s)
Animales , Ratones , Criopreservación , Aberraciones Cromosómicas/embriología , Crioprotectores/farmacología , Embrión de Mamíferos/anomalías , Glicol de Etileno/farmacología , Congelación , Factores de TiempoRESUMEN
El síndrome de Silver Russel, está caracterizado por retardo en el crecimiento intrauterino, bajo peso al nacer, facie triangular y alteraciones tanto músculo-esqueléticas como en piel, asociado a anomalías cromosómicas. Describimos el caso de un paciente, masculino de 10 años de edad, en quien durante su valoración clínica se observó ausencia de rótulas, además de rodilla derecha en flexión. Se hace una revisión del tema y de las posibles causas que expliquen la ausencia de las rotulas.
Asunto(s)
Humanos , Masculino , Niño , Aberraciones Cromosómicas/embriología , Insuficiencia de Crecimiento/complicaciones , Rótula/anomalías , Rótula/embriología , Pediatría , TraumatologíaRESUMEN
El screening de aneupliodías antenatal durante el primer trimestre ha evolucionado radicalmente durante los últimos años, asociando métodos tanto bioquímicos como ecográficos. El screening bioquímico al utilizar Pregnancy-associated plasma protein-A (PAPP-A) y la subunidad _-HCG libre presenta una sensibilidad para trisomía 21 de un 40 por ciento y 35 por ciento respectivamente. Sin embargo presenta una tasa de falsos positivos de 5 por ciento. En la búsqueda de mejorar la sensibilidad y disminuir la tasa de falsos positivos han aparecido nuevas técnicas ecográficas. La medición de la translucencia retronucal entre las semanas 11 y 14, mejoró la sensibilidad a un 77 por ciento como marcador único, manteniendo la tasa de falsos positivos. Una nueva técnica es la presencia de hueso nasal entre las semanas 11 y 14, avalada por estudios anatomo-radiológicos. Esta técnica tiene una sensibilidad 60 a 80 por ciento para trisomía 21, con una tasa de falsos positivos de 0.25 a 2,8 por ciento y con la consiguiente disminución de procedimientos invasivos. La técnica es aplicable tanto vía abdominal como transvaginal con una rápida curva de aprendizaje.
Asunto(s)
Humanos , Femenino , Embarazo , Aneuploidia , Hueso Nasal/anomalías , Hueso Nasal , Tamizaje Masivo , Trastornos de los Cromosomas/diagnóstico , Aberraciones Cromosómicas/embriología , Hueso Nasal/embriología , Edad Materna , Biomarcadores , Sensibilidad y Especificidad , Síndrome de Down/complicaciones , Trisomía/diagnósticoRESUMEN
A genética como ciência ue trata dos mecanismos que controlam a constância e as mudanças que se operam nos seres vivos, nasceu com a descoberta dos princípios mendelianos, em 1865. Contudo, o reconhecimento desses preceitos só passou a ser valorizado depois de cerca de 35 anos. Desde então, essa área tem se desenvolvido de forma espantosa.Novos conhecimentos não param de surgir, como o reconhecimento de novos modelos de herança que não os tradicionais (como por exemplo:dissomia uniparental e herança mitocondrial; polimorfismos, microdeleções e genes contíguos, região telométrica e seu papel no retardo mental; presença de diferentes fenótipos cujo substrato pode ser explicado pelo mesmo tipo de mutação e vice-versa; identificação de alguns genes importantes das doenças poligênicas), sem contar com o ápice de todo esse avanço biológico, representado pelos resultados do Projeto Genoma Humano.Muitos são os campos de interesse da genética humana; na prática da genética clínica, é de importância fundamental o reconhecimento ao menos de alguns distúrbios genéticos mais frequentes, para que seu diagnóstico, prevenção, tratamento e devido aconselhamento sejam procedidos de forma adequada e as implicações desse manejo apropriado possam se fazer sentir na área da saúde pública.Por essa razão, o enfoque de algumas doenças genéticas mais comumente observadas na prática clínica e que possam, porventura, assolar os cardiologistas, justamente pela frequencia elevada com que determinados defeitos cardíacos em seus portadores estejam presentes, foi motivo deste trabalho, com o intuito de que seu reconhecimento seja o mais precoce possível
Asunto(s)
Aberraciones Cromosómicas/embriología , Cromosomas/fisiología , Cromosomas/genética , Cromosomas/metabolismo , Genes , Genes/fisiología , Síndrome de Down/fisiopatología , Síndrome de Down/genética , Síndrome de Turner/fisiopatología , Síndrome de Turner/genéticaRESUMEN
OBJECTIVE: To evaluate the association between abnormal ductus venosus (DV) at 11-14 weeks' gestation and chromosomal abnormalities, structural defects and fetal outcome. METHODS: DV flow-velocity waveform (DV-FVW) and nuchal translucency thickness (NT) were prospectively evaluated in 1217 singleton pregnancies. RESULTS: The DV-FVW was abnormal in 84 fetuses, NT was above the 95th centile in 160 fetuses and both markers were observed in 41 fetuses. Chromosomal defects were diagnosed in 22 fetuses. The sensitivity, specificity and positive and negative predictive values for an abnormal karyotype were 86.4%, 86.9%, 11.9% and 99.7%, respectively, for an increased NT. These values were 68.2%, 96.9%, 31.3% and 99.3%, respectively, for DV-FVW abnormalities and 68.2%, 97.6%, 36.6% and 99.3%, respectively, when both markers were found simultaneously. Regarding structural defects, these values were 43.8%, 92.9%, 8.3% and 99.1% for an abnormal NT, 25.0%, 92.6%, 4.8% and 98.8% for DV-FVW abnormalities and 25.0%, 97.9%, 15.4% and 98.9% for both together. Considering those cases of unexplained fetal demise, the values were 44.4%, 85.9%, 5.0% and 98.9% for NT abnormalities, 22.2%, 92.6%, 4.8% and 98.6% for an abnormal DV-FVW and 22.2%, 98%, 15.4% and 98.7% for both. In cases with increased NT, the percentage of live births with normal karyotype and no major fetal structural defects decreased from 93.8% in normal DV-FVW fetuses to 77.3% in abnormal ones. CONCLUSION: DV assessment at 11-14 weeks' gestation is useful in screening for fetal chromosomal abnormalities and may help to reduce the false-positive rate when combined with NT measurement. Abnormal DV-FVW is also associated with an increase in adverse perinatal outcome in fetuses with enlarged NT. However, the value of DV-FVW assessment in cases with normal NT is unclear.
Asunto(s)
Aberraciones Cromosómicas/embriología , Feto/irrigación sanguínea , Resultado del Embarazo , Ultrasonografía Prenatal/métodos , Aborto Espontáneo/diagnóstico por imagen , Aborto Espontáneo/fisiopatología , Velocidad del Flujo Sanguíneo/fisiología , Femenino , Feto/anomalías , Feto/fisiopatología , Edad Gestacional , Humanos , Cariotipificación , Edad Materna , Embarazo , Estudios Prospectivos , Sensibilidad y EspecificidadRESUMEN
OBJECTIVES: To determine the prevalence of chromosomal abnormalities in fetuses with open neural tube defects (NTD) undergoing prenatal chromosome analysis. The role of prenatal ultrasound in detecting those with an underlying chromosomal abnormality was also investigated. METHODS: Over a 6-year period, 144 fetuses with open NTD underwent prenatal chromosome analysis between 12 and 37 weeks of gestation, as part of a prospective, multicenter prenatal diagnosis and counseling program in Chile. This population included 66 fetuses with spina bifida, 46 with acrania/anencephaly, 21 with cephalocele and 11 with iniencephaly. A confident prenatal diagnosis was made in 143 fetuses (99%) and confirmed postnatally in all cases. RESULTS: An underlying chromosomal abnormality was diagnosed in 10 fetuses (7%), six with spina bifida, three with cephalocele and one with craniorachischisis. The prevalence of chromosomal abnormality varied according to the defect present in the fetus, with a 14% (3/21) prevalence among those with cephalocele, 9% (6/66) among those with spina bifida and 2% (1/57) among those with lethal defects such as acrania, anencephaly or iniencephaly. Karyotype results revealed trisomy 18 in seven cases, trisomy 13 in two and mosaicism for a marker chromosome in one. Prenatal ultrasound before the procedure showed that all chromosomally abnormal fetuses had additional findings. The prevalence of chromosomal abnormality in fetuses with spina bifida and cephalocele was higher when chromosome analysis was performed at or before 24 weeks of gestation in comparison to those performed after 24 weeks (5/31 (16%) vs. 4/56 (7%), respectively). However, this difference did not reach statistical significance, probably due to the small number of cases. CONCLUSIONS: A significant number of fetuses with open NTD are chromosomally abnormal. Although prenatal chromosome analysis should be considered in all cases, prenatal ultrasound seems effective in identifying those fetuses with an underlying chromosomal abnormality.
Asunto(s)
Aberraciones Cromosómicas/embriología , Defectos del Tubo Neural/embriología , Ultrasonografía Prenatal/métodos , Adulto , Anencefalia/diagnóstico por imagen , Anencefalia/embriología , Anencefalia/epidemiología , Chile/epidemiología , Cromosomas Humanos Par 13/genética , Cromosomas Humanos Par 18/genética , Femenino , Edad Gestacional , Humanos , Persona de Mediana Edad , Mosaicismo/genética , Defectos del Tubo Neural/diagnóstico por imagen , Defectos del Tubo Neural/epidemiología , Embarazo , Prevalencia , Estudios Prospectivos , Disrafia Espinal/diagnóstico por imagen , Disrafia Espinal/embriología , Disrafia Espinal/epidemiología , Trisomía/genéticaRESUMEN
OBJECTIVE: To test the hypothesis the application of ductus venosus Doppler velocimetry may serve as a screening tool between 10 and 14 weeks' gestation for the detection of fetuses with chromosomal abnormalities. METHODS: 372 consecutive fetuses were studied. Based on prior study, a chromosomal abnormality was suspected when either the nuchal translucency was above the 95th centile, or there was reversed or absent flow in the ductus venosus during atrial contraction. Sensitivity, specificity, and the negative and positive predictive values were calculated. RESULTS: There were 29 chromosomally abnormal fetuses. Of these 29 fetuses, ductus venosus blood flow during atrial contraction was either absent (n = 2) or reversed (n = 25) in 93.1%. In the chromosomally normal fetuses (n = 343), only 6 (1.7%) had abnormal Doppler profiles in the ductus venosus (specificity = 98.3%, positive and negative predictive values = 81.8% and 99.4%, respectively). CONCLUSION: The Doppler waveform of the ductus venosus was at least equal to NT thickness measurement for the detection of chromosomal abnormalities.
Asunto(s)
Aberraciones Cromosómicas/embriología , Vena Porta/diagnóstico por imagen , Vena Porta/embriología , Vena Cava Inferior/diagnóstico por imagen , Vena Cava Inferior/embriología , Aneuploidia , Femenino , Humanos , Embarazo , Primer Trimestre del Embarazo , Ultrasonografía Doppler , Ultrasonografía PrenatalRESUMEN
The Prenatal Diagnosis Program of the Medical Genetic Unit of University of Zulia has the following objectives: Identification of Genetic Risk Factors (GRF) in those couples who attend to the Prenatal Genetic Clinic, application of different prenatal diagnostic procedures (PDP), and providing adequate genetic counseling. The goal of this paper is to show preliminary results obtained between January 1993 and December 1996. Three hundred and twenty one pregnant women were analyzed by determining the GRF and taking into account the genetic clinical history. The GRF analyzed were: Advanced maternal age (AMA), congenital malformation history (CMH), previous child with chromosomic anomalies (PCCA), defects of neural tube history (DNTH), congenital heart disease history (CHDH), any parent carrier of chromosomic anomaly (PCA), habitual abortion (HA), abnormal fetal echography (AFE), altered maternal serum levels of alpha-feto-protein (AMSAFP) and OTHERS: exposure to teratogenic agents, history of Mendelian diseases, maternal systemic diseases and anxiety in the mother or in her partner. The PDP was designed according to the GRF, which included fetal echography (FE), fetal echocardiography (FEc), amniocentesis (AMN), chordocentesis (CCT) and AMSAFP. Results showed that 58.4% of the expectant mothers asked for counseling during the 2nd trimester, 70% of the total showed only one GRF, and AMA was the most frequent GRF found (40.3%), followed by PCCA, AFE, CHDH, HA, DNTH, PCA, and OTHERS in that order. The specific PDP applied to the identified GRF allowed a health evaluation of the fetus. The GRF identification gave the opportunity of establishing a Prenatal Diagnostic Program producing a response to the couple's needs and showed the utility of an integral and multidisciplinary management directed to any expecting mother in order to identify any high GRF.
Asunto(s)
Hospitales Universitarios/organización & administración , Atención Prenatal/organización & administración , Diagnóstico Prenatal , Aborto Habitual/epidemiología , Aborto Habitual/genética , Biomarcadores , Aberraciones Cromosómicas/diagnóstico , Aberraciones Cromosómicas/embriología , Aberraciones Cromosómicas/epidemiología , Aberraciones Cromosómicas/genética , Trastornos de los Cromosomas , Anomalías Congénitas/diagnóstico , Anomalías Congénitas/embriología , Anomalías Congénitas/epidemiología , Femenino , Enfermedades Fetales/diagnóstico , Enfermedades Fetales/epidemiología , Asesoramiento Genético , Enfermedades Genéticas Congénitas/diagnóstico , Enfermedades Genéticas Congénitas/embriología , Enfermedades Genéticas Congénitas/epidemiología , Departamentos de Hospitales , Hospitales Universitarios/estadística & datos numéricos , Humanos , Recién Nacido , Masculino , Edad Materna , Embarazo , Embarazo de Alto Riesgo , Atención Prenatal/estadística & datos numéricos , Diagnóstico Prenatal/métodos , Diagnóstico Prenatal/estadística & datos numéricos , Estudios Retrospectivos , Factores de Riesgo , Venezuela/epidemiología , alfa-Fetoproteínas/análisisRESUMEN
El diagnóstico cromosómico antenatal por amniocentesis y cordocentesis se realiza desde hace 7 años en el Laboratorio de Citogenética del Hospital Clínico de la Universidad de Chile. Su principal utilidad reside en la complementación diagnóstica cuando se detecta un embarazo patológico y en la tranquilidad que le da un resultado normal a una mujer con temor de una cromosomopatía por edad materna avanzada. El hallazgo de una alteración cromosómica en líquido amniótico ha ocurrido en el 16,2 por ciento de los casos referidos por anomalías detectadas ecográficamente y sólo en el 5,0 por ciento de aquellos con edades mayores en la madre. Las cromosomopatías encontradas en sangre de cordón corresponden a un 18,2 por ciento. Es importante destacar que un resultado normal es igualmente relevante para las decisiones en el manejo pre y postnatal