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1.
Arch. argent. pediatr ; 118(2): e149-e161, abr. 2020. tab, ilus
Artigo em Inglês, Espanhol | LILACS (Américas), BINACIS | ID: biblio-1100327

RESUMO

Dentro de las malformaciones congénitas, las cardiopatías son las anomalías más frecuentes y se asocian a una elevada morbimortalidad perinatal y a largo plazo. El objetivo de esta actualización es revisar la tasa de detección prenatal, las características del tamizaje a lo largo del embarazo, tanto en el primero como en el segundo trimestre, las indicaciones de ecocardiografía avanzada, y establecer un algoritmo de manejo ante el diagnóstico prenatal de una cardiopatía congénita. Se discutirán los estudios invasivos y no invasivos que pueden realizarse y el seguimiento obstétrico. Finalmente, se revisarán las características principales de la terapia fetal en anomalías cardíacas, tanto intervencionismo cardíaco como el tratamiento intrauterino de las arritmias.


Among congenital malformations, heart defects are the most common type of anomaly, and these are associated with a high perinatal, long-term morbidity and mortality. The objective of this update was to review the rate of prenatal detection, screening characteristics throughout the pregnancy, in both the first and second trimesters, indications for advanced echocardiography, and to establish a management algorithm in case of prenatal diagnosis of a congenital heart disease. Potential invasive and non-invasive tests and obstetric follow-up will be discussed here. Finally, the main characteristics of fetal therapy in heart anomalies will be reviewed, both cardiac interventions and intrauterine treatment of arrhythmias.


Assuntos
Humanos , Masculino , Feminino , Gravidez , Cardiopatias Congênitas/diagnóstico por imagem , Diagnóstico Pré-Natal , Programas de Rastreamento , Seguimentos , Terapias Fetais/métodos , Coração Fetal/anormalidades
2.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-782204

RESUMO

Harlequin ichthyosis (HI) is a rare and severe form of ichthyosis and is characterized by thickened, hard, armor-like plates of skin that cover the entire body. This disease is caused by mutations in the adenosine triphosphate-binding cassette transporter protein A12 gene, and the pattern of inheritance is autosomal recessive. Prenatal sonographic diagnosis of HI has not been frequently reported. Here, we report a case of HI detected at 28 weeks of gestation and discuss with the sonographic findings and a brief review of literature. The diagnosis was reached mainly based on 2-dimensional and 3-dimensional ultrasound findings. Three-dimensional ultrasound applications help recognize facial morphology, and thus, greatly contributes to prenatal diagnoses.


Assuntos
Adenosina , Diagnóstico , Humanos , Ictiose , Ictiose Lamelar , Recém-Nascido , Gravidez , Diagnóstico Pré-Natal , Pele , Ultrassonografia , Testamentos
3.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781306

RESUMO

OBJECTIVE@#To explore the genetic basis for a fetus with Dandy-Walker malformation.@*METHODS@#G-banding chromosomal karotyping, single nucleotide polymorphism microarray (SNP array) and fluorescence in situ hybridization (FISH) were carried out for the fetus. Chromosomal karyotyping and FISH assay were also carried out for both parents.@*RESULTS@#SNP array has detected a 4266 kb microdeletion at 6p25.3p25.1 in the fetus, which was confirmed by FISH. FISH analysis of the parents demonstrated that the father has carried a cryptic t(6;14) (p25.1;p13) translocation, while the fetus has a der(6)t(6;14)(p25.1;p13) derived the paternal translocation.@*CONCLUSION@#The der(6)t(6;14)(p25.1;p13) probably underlies the Dandy-Walker malformation in the fetus. The 6p25.3p25.1 microdeletion is due to unbalanced gametes produced by the father's cryptic balanced translocation.


Assuntos
Síndrome de Dandy-Walker , Diagnóstico , Genética , Feminino , Feto , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Gravidez , Diagnóstico Pré-Natal , Translocação Genética
4.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781292

RESUMO

OBJECTIVE@#To explore the genetic basis of a child with developmental delay and intellectual disability.@*METHODS@#Peripheral blood samples of the child and his parents were collected for routine G-band karyotyping analysis and single nucleotide polymorphism array (SNP array) assay. Amniotic fluid sample was collected during the next pregnancy for prenatal diagnosis.@*RESULTS@#No karyotypic abnormality was found in the child and his parents. SNP array showed that the child has carried a 855.3 kb microduplication in 15q11.2. His mother carried the same duplication but had no phenotypic anomaly. No microdeletion/microduplication was found in his father. Upon prenatal diagnosis, no abnormalities was found with the chromosomal karyotype and SNP array result of the fetus.@*CONCLUSION@#15q11.2 microduplication may result in developmental delay and intellectual disability, for which CYFIP1 may be a candidate gene. However, the duplication may increase the risk but with a low penetrance. This should attract attention during clinical consultation.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal , Criança , Bandeamento Cromossômico , Duplicação Cromossômica , Cromossomos Humanos Par 15 , Genética , Deficiências do Desenvolvimento , Genética , Feminino , Humanos , Deficiência Intelectual , Genética , Cariotipagem , Masculino , Gravidez , Diagnóstico Pré-Natal
5.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781291

RESUMO

OBJECTIVE@#To assess the application value of chromosomal microarray analysis (CMA) for prenatal diagnosis of fetus with ultrasound abnormalities.@*METHODS@#For 293 fetuses with ultrasound abnormalities (including 168 with structural abnormalities and 125 with non-structured abnormalities) but no common chromosomal abnormalities, CMA assay was performed.@*RESULTS@#Sixteen pathogenic copy number variants (pCNVs) were detected by CMA with a detection rate of 5.46%. The detection rates were 5.95% (10/168) for those with structural abnormalities and 4.80% (6/125) for those with non-structural abnormalities.@*CONCLUSION@#Compared with conventional karyotyping analysis, CMA can improve the detection of fetal chromosomal abnormality and provide an effective means for prenatal diagnosis.


Assuntos
Aberrações Cromossômicas , Transtornos Cromossômicos , Variações do Número de Cópias de DNA , Feminino , Feto , Anormalidades Congênitas , Humanos , Análise em Microsséries , Padrões de Referência , Gravidez , Diagnóstico Pré-Natal , Métodos , Ultrassonografia Pré-Natal
6.
Rev. enferm. UERJ ; 27: e34127, jan.-dez. 2019. tab
Artigo em Português | LILACS (Américas), BDENF | ID: biblio-1010024

RESUMO

Objetivo: identificar as principais dúvidas de gestantes com diagnóstico pré-natal do bebê de fissura de lábio e/ou palato. Método: estudo descritivo, retrospectivo, quantitativo. A amostra foi composta por 15 de gestantes atendidas na consulta de enfermagem, em 2016, numa instituição pública paulista. Para a coleta de dados, utilizou-se instrumento institucional após aprovação do projeto por Comitê de Ética em Pesquisa. As dúvidas foram categorizadas como alimentação, higiene, protocolo cirúrgico, hipótese diagnóstica, pós-operatório e sofrimento/bullying. Os resultados foram submetidos à análise estatística descritiva. Resultados: idade média materna de 30 anos (±5,9), paterna de 31 anos (±10,4). Predomínio das seguintes características: classificação socioeconômica média inferior ­ 8 (53%); escolaridade dos progenitores, ensino superior completo ­ 15 (52%); bebês do sexo masculino ­ 11 (73%); diagnósticos de Fissura Transforame Unilateral Esquerda ­ 7 (47%). Salientaram-se dúvidas sobre: alimentação ­ 15 (100%) e higiene ­ 9 (60%). Conclusão: as principais dúvidas das gestantes foram sobre alimentação e higiene. Identificá-las permitiu direcionar as orientações para as necessidades reais dessa clientela.


Objective: to identify pregnant women's main doubts at prenatal diagnosis of baby's cleft lip and/or palate. Method: this retrospective, quantitative, descriptive study considered a sample of 15 pregnant women attending nursing appointments in 2016 at a public institution in São Paulo. After the project was approved by the research ethics committee, data were collected using an institutional instrument. Doubts were categorized into feeding, hygiene, surgical protocol, diagnostic hypothesis, postoperative care and suffering/bullying. The results were subjected to descriptive statistical analysis. Results: the mothers' mean age was 30 (±5.9) years, the fathers' mean was 31 (±10.4) years. The following features predominated: low mean socioeconomic position ­ 8 (53%); higher education ­ 15 (52%); male babies ­ 11 (73%); left unilateral transforaminal cleft ­ 7 (47%). Doubts were raised on: food ­ 15 (100%) and hygiene ­ 9 (60%). Conclusion: the pregnant women's main doubts were about food and hygiene. Identifying them made it possible to adjust guidelines to this clientele's real needs.


Objetivo: identificar las principales dudas de mujeres embarazadas con diagnóstico prenatal del bebé de fisura de labio y/o palatina. Método: estudio descriptivo, retrospectivo, cuantitativo. La muestra se compuso de 15 mujeres embarazadas atendidas en la consulta de enfermería, en 2016, en una institución pública de São Paulo. Para la recolección de datos se utilizó un instrumento institucional después de la aprobación del proyecto por el Comité de Ética en Investigación. Las dudas se categorizaron como alimentación, higiene, protocolo quirúrgico, hipótesis diagnóstica, postoperatorio y sufrimiento/bullying. Los resultados se sometieron al análisis estadístico descriptivo. Resultados: promedio de edad materna de 30 años (±5,9), paterna de 31 años (±10,4). Predominio de los siguientes aspectos: clasificación socioeconómica media inferior ­ 8 (53%); escolaridad de los progenitores, enseñanza universitaria completa ­ 15 (52%); bebés de sexo masculino ­ 11 (73%); diagnósticos de Fisura Transforamen Unilateral Izquierda ­ 7 (47%). Se destacaron dudas sobre: alimentación ­ 15 (100%) e higiene ­ 9 (60%). Conclusión: las principales dudas de las embarazadas se basaron en alimentación e higiene. Identificarlas permitió consucir las orientaciones hacia las necesidades reales de esa clientela.


Assuntos
Humanos , Feminino , Gravidez , Adulto , Cuidado Pré-Natal , Diagnóstico Pré-Natal/psicologia , Gravidez , Fenda Labial/diagnóstico , Fenda Labial/enfermagem , Brasil , Estudos de Avaliação como Assunto , Epidemiologia Descritiva , Estudos Retrospectivos , Fenda Labial/diagnóstico por imagem , Gestantes/educação , Hospitais Universitários
7.
Rev. pediatr. electrón ; 16(3): 28-32, oct. 2019. ilus
Artigo em Espanhol | LILACS (Américas) | ID: biblio-1046286

RESUMO

INTRODUCCIÓN La peritonitis meconial (PM) es una peritonitis localizada o generalizada, aséptica, química o de cuerpo extraño; producto del paso de meconio a la cavidad peritoneal y esta correlacionada con la perforación prenatal del tracto digestivo. Se presenta en 1 de cada 30.000 recién nacidos (RN). El diagnostico ecográfico prenatal mejora los resultados perinatales, el hallazgo más frecuente es la ascitis. La PM requiere un tratamiento multidisciplinario urgente, la mayoría es de resolución quirúrgica. OBJETIVO Dar a conocer una patología infrecuente, que requiere un alto grado de sospecha diagnostica para otorgar un manejo perinatal específico y oportuno. Caso clínico Primigesta de 29 años sin antecedentes mórbidos, cursando embarazo controlado de 36+5 semanas. En control ecográfico se evidencia ascitis fetal. Se hospitaliza en alto riesgo obstétrico, descartando patología metabólica e infecciosa. A las 37 semanas por cesárea de urgencia, se obtiene RN con distensión abdominal y hepatomegalia. En laparotomía exploradora se evidencia asas intestinales indemnes. En re intervención se encuentra hernia de íleon distal perforada, se confecciona ostomia, evoluciona favorablemente y es dado de alta. DISCUSIÓN Es fundamental considerar la PM dentro de los diagnósticos diferenciales de ascitis fetal. Un diagnóstico oportuno mejora los resultados perinatales y permite prevenir posibles complicaciones.


INTRODUCTION Meconial peritonitis (PM) is localized or generalized peritonitis, aseptic, chemical or strange body; a product of meconium steps to the peritoneal cavity and is correlated with prenatal perforation of the digestive tract. It occurs in 1 in 30,000 newborns. Prenatal ultrasound diagnosis improves perinatal outcomes, the most frequent finding is ascites. PM requires urgent multidisciplinary treatment, most of cases need surgical resolution. OBJECTIVE To present an infrequent pathology, which requires a high degree of diagnostic suspicion to grant a specific and timely perinatal management. Clinical case Pregnant 29 years old woman without morbid history, 36 weeks of controlled pregnancy. Ultrasound control shown fetal ascites. He is hospitalized at high obstetric risk, ruling out metabolic and infectious pathology. At 37 weeks by emergency caesarean section, is obtained a baby boy with abdominal distension and hepatomegaly. In exploratory laparotomy there are undamaged intestinal handles. In re intervention it is noted herniated perforated distal ileum, ostomy is made. Patient evolves favourably and is discharged. DISCUSSION It is essential consider PM within the differential diagnoses of fetal ascites. An opportune diagnosis improves the perinatal results and could avoids possible complications.


Assuntos
Humanos , Feminino , Gravidez , Recém-Nascido , Adulto , Peritonite/diagnóstico , Peritonite/etiologia , Diagnóstico Pré-Natal , Mecônio , Peritonite/cirurgia , Ascite/diagnóstico , Diagnóstico Diferencial
8.
Horiz. méd. (Impresa) ; 19(3): 84-88, Set. 2019. ilus
Artigo em Espanhol | LILACS (Américas), LIPECS | ID: biblio-1022504

RESUMO

La osteogénesis imperfecta (OI) pertenece al grupo de enfermedades raras, dada su baja incidencia mundial. Esta dolencia consiste en una formación inadecuada del hueso, cuya principal consecuencia, desde el punto de vista clínico, es la tendencia a fracturas patológicas por excesiva fragilidad ósea, lo que lleva, muchas veces, a una calidad de vida limitada en las personas afectadas, con deformidades e invalidez. Para el diagnóstico prenatal de esta enfermedad, se emplean procedimientos invasivos, y no invasivos que permiten realizar el diagnóstico a edades gestacionales tempranas. Presentaremos el caso de una paciente vista en el Hospital de Rivera, de 35 años, portadora de osteogénesis imperfecta tipo IV, que curso su segunda gestación, con sospecha prenatal y confirmación diagnóstica al nacimiento de misma patología en el recién nacido.


Osteogenesis imperfecta (OI) belongs to the group of rare diseases due to its low incidence in the world population. It is a disorder which involves an inadequate bone formation that, from the clinical point of view, mainly leads to pathological fractures caused by extremely brittle bones. This frequently causes affected people to have a limited quality of life because of deformities and disability. Before birth, there are both invasive and noninvasive procedures that allow us to diagnose the disorder at early gestational ages. This is the case of a 35-year-old patient treated at the Hospital de Rivera, who had OI type IV and was pregnant with her second child. The same condition was suspected prenatally in the baby and subsequently confirmed at birth.


Assuntos
Gravidez , Osteogênese Imperfeita , Diagnóstico Pré-Natal , Gravidez
9.
Prensa méd. argent ; 105(6): 353-360, Jul 2019. fig, tab, graf
Artigo em Espanhol | LILACS (Américas), BINACIS | ID: biblio-1023730

RESUMO

The authors present a study on prenatal diagnosis of hipoplastic left heart syndrome, and an analysis of the characteristics of a population in a public hospital. The hypoplastic left heart syndrome, and an analysis of the characteristics of a population in a public hospital. The hypoplastic left heart syndrome (HLHS) is a rare congenital heart deficit consisting in the hypodevelopment of the left ventricle, aortic valve, mitral valve and the ascendent aorta. Its incidence is 0,016% to 0.034% of the total of newborns alive. It represents between 1 - 3% of the whole congenital cardiopaties (cc). Its natural evolution is severe and it represents the greater cause of death by CC during the neonatal period. There is a predominance in males between the 55 to 67%. The etiology is multifactorial. Presents risk of recurrency between brothers, and because of that circumstance it could have genetical basis. The ais of this report were to analyze the clinical variables, electrocardiographis, echocardiographic and therapeutical, of a population with diagnosis fo HLHS. The incidence of HLHS in the population studied was 0.06% of life births. The results obtained are detailed (AU)


Assuntos
Humanos , Recém-Nascido , Diagnóstico Pré-Natal , Ecocardiografia , Registros Médicos , Saúde Materno-Infantil , Epidemiologia Descritiva , Estudos Retrospectivos , Síndrome do Coração Esquerdo Hipoplásico/patologia , Síndrome do Coração Esquerdo Hipoplásico/terapia , Eletrocardiografia , Procedimentos de Norwood/reabilitação
10.
Prensa méd. argent ; 105(6): 340-346, Jul 2019. tab, graf
Artigo em Espanhol | LILACS (Américas), BINACIS | ID: biblio-1023713

RESUMO

The authors present a estudy related to the prenatal detection of congenital heart diseases. The congenital anomalies (CA) are morphological or functional disorders of prenatal origin, present since the birth, even they can be detected later on, during their lifes. They constitute the second cause of infantile death in our country, following, prenatal diseases (prematurity, perinatal infections, etc.) The most severe CA have relevance for the health and require usually clinical a surgical treatment. Congenital cardiopaties (CC) are the most frequent and represent a great impact in the mobimortality both neonatal and pediatric. Foetal echocardiography is a sensitive and specific method of investigation for prenatal detection of cardiac malformations. Experience has shown that echocardiographic screening can demonstrate, the presence of probably various cardiac disease in the foetus as early as 18-20 th weeks of pregnancy. It is recommended that screening should be carried out as part of other forms of obstetric ultrasonic screening. Our aims were to analyze the characteristies of the pregnants at risk factors to CC. To determine the associated factors to the fetal pathology of the fetal electrocardiogram, and to correlate the postnatal diagnosis by cardiac echodoppler, which impoves neonate survival and reduces morbidity. The results obtained are detailed in the article (AU)


Assuntos
Humanos , Feminino , Gravidez , Diagnóstico Pré-Natal , Anormalidades Congênitas/etiologia , Estudos Transversais , Fatores de Risco , Ultrassonografia Doppler , Monitoramento Epidemiológico , Cardiopatias Congênitas/prevenção & controle
11.
Prensa méd. argent ; 105(6): 370-373, Jul 2019. tab, graf, fig
Artigo em Espanhol | LILACS (Américas), BINACIS | ID: biblio-1023792

RESUMO

The authors present a study of prenatal diagnostic interventions in a public hospital. The invasive prenatal diagnosis can be achieved by means of threee methods, aspirative punction of chorionic villous, extraction of amniotic fluid and fetal blood sample. Samples of chorionic villus are empoyed for citogenetic study, determination of the fetal cariotype or realization of a specific determination through technic FISH (Fluorescence in situ hybridization) or molecular genetics. Sample of amniotic fluid consists in the aspirative puncture under direct sonographic control of the amniotic cavity. During the period of the study, 9457 obstetric sonographies were performed with 121 genetic consultations of whom 46 resulted in invasive prenatal diagnostics. The results obtained are discussed (AU)


Assuntos
Humanos , Feminino , Gravidez , Diagnóstico Pré-Natal , Amostra da Vilosidade Coriônica , Epidemiologia Descritiva , Estudos Retrospectivos , Estudos Longitudinais , Ultrassonografia , Gestantes , Biópsia por Agulha Fina
12.
Prensa méd. argent ; 105(3): 110-118, may 2019. tab, fig
Artigo em Espanhol | LILACS (Américas), BINACIS | ID: biblio-1025204

RESUMO

Objetivo: Desarrollar una nueva metodología física y matemática para diagnosticar la dinámica cardíaca caótica fetal a partir de atractores de la frecuencia cardíaca. Metodología: Se realizó una inducción matemática con tres trazados de monitorias fetales; una reactiva sin dudas en su evaluación, una plana y una con pérdida aguda de bienestar fetal, para cada una de ellas se generó un atractor caótico a partir de las frecuencias cardíacas, se evaluaron los espacios de ocupación de cada atractor en dos rejillas, y se establacieron diferencias matemáticas entre trazados de monitorias reactivas y no reactivas. Posteriormente se analizaron otros 15 trazados de monitorias fetales, para refinar los parámetros diagnósticos. Resultados: Los espacios evaluados para los atractores de monitorias normales presentaron valores entre 53 y 117 para la rejilla más pequeña; mientras que las monitorias anormales presentaron valores menores a 41 y mayores a 123. Conclusiones: se desarrolló una nueva metodología de ayuda diagnóstica para evaluar la dinámica cardíaca caótica fetal, que diferencia normalidad de enfermedad de forma objetiva y reproducible (AU)


Objective: To develop a new physical and mathematical methodology to diagnose fetal chaotic cardiac dynamics from heart rate attractors. Methods: A mathematical induction was performed with three fetal monitoring tracings;one of them, reactive without doubt in its evaluation, other plane and other with acute loss of fetal well-being, for each of them a chaotic attractor was generated from the cardiac frequencies, the spaces of occupation of each attractor in two grids were evaluated, and mathematical differences were established between reactive and non-reactive monitorin tracings. A further 15 fetal monitoring tracings were then analyzed to refine the diagnostic parameters. Results: The spaces evaluated for the normal monitor attractors presented values between 53 and 177 for the smallest grid; while abnormal monitoring had values lower than 41 and greater than 12.3. conclusions: a new methodology of diagnostic aid was developed to evaluate fetal chaotic cardiac dynamics, which distinguishes normality of disease in an objective and reproductible way (AU)


Assuntos
Humanos , Feminino , Gravidez , Diagnóstico Pré-Natal , Dinâmica não Linear , Fractais , Metodologia , Monitorização Fetal
13.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-776811

RESUMO

OBJECTIVE@#To detect potential mutations of the PKHD1 gene in two pedigrees affected with infantile polycystic kidney disease.@*METHODS@#Clinical data and peripheral venous blood samples were collected from the probands and their parents as well as fetal amniotic fluid cells. Genome DNA was extracted from the peripheral blood samples and amniotic fluid cells. Exons 32 and 61 of the PKHD1 gene were amplified with PCR and subjected to direct sequencing.@*RESULTS@#The proband of pedigree 1 was found to carry c.4274T>G (p.Leu1425Arg) mutation in exon 32 and c.10445G>C (p.Arg3482Pro) mutation in exon 61 of the PKHD1 gene, which were inherited from her father and mother, respectively. The fetus has carried the c.4274T>G (p.Leu1425Arg) mutation. In pedigree 2, the wife and her husband had respectively carried a heterozygous c.5979_5981delTGG mutation and a c.9455delA mutation of the PKHD1 gene. No chromosomal aberration was found in the umbilical blood sample, but the genetic testing of their fetus was failed. Based on software prediction, all of the 4 mutations were predicted to be pathogenic.@*CONCLUSION@#PKHD1 c.4274T>G (p.Leu1425Arg), c.10445G>C (p.Arg3482Pro), c.5979_5981delTGG and c.9455delA were likely to be pathogenic mutations. The results have facilitated genetic counseling and prenatal diagnosis for the two pedigrees.


Assuntos
Análise Mutacional de DNA , Feminino , Aconselhamento Genético , Humanos , Mutação , Linhagem , Doenças Renais Policísticas , Diagnóstico , Genética , Gravidez , Diagnóstico Pré-Natal , Receptores de Superfície Celular
14.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-776799

RESUMO

OBJECTIVE@#To carry out prenatal diagnosis for a fetus with ultrasonographic abnormality.@*METHODS@#Chromosomal karyotyping and array comparative genomic hybridization (array-CGH) analysis were applied for the diagnosis. Peripheral blood samples were also taken from the parents for chromosome karyotyping analysis.@*RESULTS@#The fetal karyotype showed additional material of unknown-origin attached to Yq. Array CGH analysis confirmed that the material was derived from 3q22.1q29. The father was found to carry a balanced translocation 46, X, t(Y;3)(q12;q23) (which was diagnosed as 46,XY,Y≥18 elsewhere), whilst the mother was found to be normal.@*CONCLUSION@#3q partial trisomy may present as malformation of multiple systems. Combination of chromosome karyotyping and array-CGH can provide reliable diagnosis for fetuses with abnormalities by ultrasonography.


Assuntos
Cromossomos Humanos Par 3 , Genética , Hibridização Genômica Comparativa , Feminino , Feto , Humanos , Cariotipagem , Masculino , Gravidez , Diagnóstico Pré-Natal , Trissomia
15.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-776796

RESUMO

OBJECTIVE@#To assess the value of combined cytogenetic and molecular techniques for the prenatal diagnosis of a pregnant woman with intellectual disability (ID).@*METHODS@#The fetus and its parents were subjected to G-banding karyotyping analysis, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) analysis.@*RESULTS@#G-banding karyotype analysis revealed that the woman has carried a chromosomal microdeletion 46,XX,del(11)(q24), and the fetus was a carrier of 46,XN,del(11)(q24)mat. Subsequent SNP-array and FISH analysis of the pregnant woman indicated that the microdeletion has mapped to 11q24.1-q25. Both the pregnant woman and her fetus were diagnosed with Jacobsen syndrome.@*CONCLUSION@#Combined use of cytogenetic and molecular genetic techniques can facilitate diagnosis of patients with intellectual disability.


Assuntos
Deleção Cromossômica , Feminino , Feto , Humanos , Hibridização in Situ Fluorescente , Deficiência Intelectual , Síndrome da Deleção Distal 11q de Jacobsen , Diagnóstico , Cariotipagem , Polimorfismo de Nucleotídeo Único , Gravidez , Diagnóstico Pré-Natal
16.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-776792

RESUMO

OBJECTIVE@#To diagnose a fetus with Phelan-McDermid syndrome (PMS) using various techniques.@*METHODS@#Single nucleotide polymorphism array (SNP Array), multiplex ligation-dependent probe amplification (MLPA), fluorescence in situ hybridization (FISH) were applied in conjunction for the prenatal diagnosis of the fetus.@*RESULTS@#SNP Array detected a 4.03 Mb microdeletion at 22q13.31q13.33 in the fetus, which was confirmed by FISH and MLPA. FISH analysis of the parents suggested that the 22q13.31q13.33 deletion has a de novo origin.@*CONCLUSION@#Combined use of various techniques can enable accurate prenatal diagnosis and genetic counseling.


Assuntos
Deleção Cromossômica , Transtornos Cromossômicos , Diagnóstico , Cromossomos Humanos Par 22 , Feminino , Feto , Humanos , Hibridização in Situ Fluorescente , Gravidez , Diagnóstico Pré-Natal
17.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-776788

RESUMO

OBJECTIVE@#To determine the CGG repeat number and methylation status of FMR1 gene for fetuses whose mothers have carried a FMR1 mutation.@*METHODS@#For 30 pregnant women, the fetal CGG repeat number was determined with a GC-rich PCR system by using chorionic villus, amniotic fluid or umbilical blood samples. The methylation status of the FMR1 gene was confirmed with Southern blotting.@*RESULTS@#In total 30 prenatal diagnoses were performed for 29 carriers of FMR1 gene mutations and 1 with FMR1 gene deletion mosaicism. Three fetuses were found to carry premutations, 9 were with full mutations and 1 with mosaicism of premutation and full mutations. Eighteen fetuses were normal.@*CONCLUSION@#Considering the genetic complexity of Fragile X syndrome (FXS), single method may not suffice accurate determination of their genetic status. The pitfalls and technical limitations of protocols requires adoption of personalized strategy for its prenatal diagnosis.


Assuntos
Feminino , Proteína do X Frágil de Retardo Mental , Genética , Síndrome do Cromossomo X Frágil , Diagnóstico , Heterozigoto , Humanos , Mutação , Gravidez , Diagnóstico Pré-Natal
18.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-776777

RESUMO

OBJECTIVE@#To explore the genetic basis for an infant featuring developmental delay, hand deformity and hypertonia of extremities.@*METHODS@#Clinical data and peripheral blood samples of the proband and her parents were collected. Following DNA extraction, potential mutations were screened on an Ion PGM platform using a gene panel. Suspected mutation was verified by PCR and Sanger sequencing.@*RESULTS@#A novel heterozygous nonsense mutation, c.2521C>T(p.R841X), was identified in the NIPBL gene. The mutation may cause premature termination of translation of the adhesion protein loading factor at 841st amino acids. The same mutation was not found in her parents and 931 healthy controls, and was absent from public databases including ExAC and 1000G. Bioinformatic analysis suggested the mutation to be disease causing.@*CONCLUSION@#The c.2521C>T (p.R841X) mutation of the NIPBL gene probably underlies the Cornelia De Lange syndrome in the infant. Prenatal diagnosis may be provided to this family upon their subsequent pregnancy.


Assuntos
Síndrome de Cornélia de Lange , Diagnóstico , Genética , Feminino , Heterozigoto , Humanos , Lactente , Mutação , Gravidez , Diagnóstico Pré-Natal , Proteínas , Genética
19.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-776765

RESUMO

OBJECTIVE@#To determine the frequency of chromosomal abnormalities and outcome of pregnancy for fetuses with increased nuchal translucency (NT).@*METHODS@#Between July 2014 and February 2018, 247 fetuses with increased NT (>95th centile)were analyzed by chromosome microarray analysis (CMA). The fetuses were divided into ones with isolated increased NT (168 cases), increased NT with cystic hygroma (20 cases), increased NT with edema (12 cases) or increased NT with other abnormalities (47 cases). All couples were followed up by telephone calls.@*RESULTS@#The rate of chromosomal abnormalities was 31.6% (78/247), which included 66 cases with chromosomal aneuploidies and 12 with copy number variants (CNVs). CNVs accounted for 31.4% (11/35) of total abnormalities among fetuses with isolated increased NT, whilst only 2.3% (1/43) of the total abnormalities among fetuses with non-isolated increased NT. Three fetuses with a normal CMA result had mental and physical retardation. Two of them were diagnosed with single gene disorders by whole exome sequencing.@*CONCLUSION@#CMA can detect more chromosomal microdeletion/microduplications among fetuses with isolated increased NT. Furthermore, fetuses with increased NT and anegative CMA result during pregnancy cannot exclude all adverse outcomes.


Assuntos
Aneuploidia , Aberrações Cromossômicas , Cromossomos , Variações do Número de Cópias de DNA , Edema , Feminino , Feto , Humanos , Linfangioma Cístico , Análise em Microsséries , Medição da Translucência Nucal , Gravidez , Resultado da Gravidez , Diagnóstico Pré-Natal , Ultrassonografia Pré-Natal
20.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-776754

RESUMO

OBJECTIVE@#To carry out genetic testing and prenatal diagnosis for a family affected with Duchenne muscular dystrophy (DMD).@*METHODS@#Multiplex ligation dependent probe amplification (MLPA) was used to detect potential deletion and duplication of the Dystrophin gene. Haplotype analysis was performed using five short tandem repeat polymorphism loci (3'-STR, 5'-STR, 45-STR, 49-STR, 50-STR of the DMD gene.@*RESULTS@#A same deletional mutation (exons 51-55) of the DMD gene was detected in two brothers but not in their mother. The patients and fetus have inherited different haplotypes of the Dystrophin gene from their mother, suggesting that the fetus was unaffected.@*CONCLUSION@#The mother was very likely to harbor germline mosaicism for the Dystrophin gene variant. Genetic testing of peripheral blood samples cannot rule out germline mosaicism in the mother. Prenatal diagnosis should be provided for subsequent pregnancies in this family.


Assuntos
Distrofina , Genética , Éxons , Feminino , Deleção de Genes , Mutação em Linhagem Germinativa , Humanos , Masculino , Mosaicismo , Distrofia Muscular de Duchenne , Genética , Gravidez , Diagnóstico Pré-Natal
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