Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 8 de 8
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
J Clin Ultrasound ; 52(4): 405-414, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38362713

RESUMO

PURPOSE: To investigate the efficacy of atrioventricular valve regurgitation (AVVR) for predicting atrioventricular septal defect (AVSD) in the first trimester. METHODS: We performed a prospective observational study, screening for complicated congenital heart diseases and AVVR in fetuses at 11 to 13+6 weeks of gestation by advanced dynamic flow in four-chamber view and three-vessel-trachea view. RESULTS: 43 549 fetuses at 11 to 13+6 weeks of gestation were screened by echocardiography, of which 37 cases were diagnosed with AVSD, including complete AVSD (31 cases), intermediate AVSD (3 cases) and partial AVSD (1 cases), undiagnosed intermediate AVSD (2 cases), and misdiagnosed case (2 cases). AVVR was observed in 34 cases (34/37) in the first trimester, 59. 46% (22/37) nuchal translucency greater than 95th percentile, 29. 73% (11/37) absence of nasal bone, 32. 43% (12/37) ductus venosus A wave inversion, and 40. 54% (15/37) had tricuspid regurgitation. The sensitivity of common AVVR in predicting AVSD is better than other ultrasonic indexes. CONCLUSIONS: AVVR can be used as an ultrasonic indicator to predict AVSD in the first trimester, which is beneficial to detect AVSD.


Assuntos
Defeitos dos Septos Cardíacos , Primeiro Trimestre da Gravidez , Ultrassonografia Pré-Natal , Humanos , Feminino , Gravidez , Ultrassonografia Pré-Natal/métodos , Estudos Prospectivos , Defeitos dos Septos Cardíacos/diagnóstico por imagem , Adulto , Insuficiência da Valva Tricúspide/diagnóstico por imagem , Sensibilidade e Especificidade , Ecocardiografia/métodos
2.
Mol Genet Genomic Med ; 12(1): e2358, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38284444

RESUMO

BACKGROUND: Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations is a rare neurological disorder that is associated with typical clinical and imaging features. The syndrome is caused by pathogenic variants in the MAST1 gene, which encodes a microtubule-associated protein that is predominantly expressed in postmitotic neurons in the developing nervous system. METHODS: Fetal DNA from umbilical cord blood samples and genomic DNA from peripheral blood lymphocytes were subjected to whole-exome sequencing. The potential causative variants were verified by Sanger sequencing. RESULTS: A 26-year-old primigravid woman was referred to our prenatal center at 25 weeks of gestation due to abnormal ultrasound findings in the brain of the fetus. The brain abnormalities included wide cavum septum pellucidum, shallow and incomplete bilateral lateral fissure cistern, bilateral dilated lateral ventricles, hyperplastic corpus callosum, lissencephaly, and cortical dysplasia. No obvious abnormalities were observed in the brainstem or cerebellum hemispheres, but the cerebellum vermis was small. Whole-exome sequencing identified a de novo, heterozygous missense variant, c.695T>C(p.Leu232Pro), in the MAST1 gene and a genetic diagnosis of mega-corpus-callosum syndrome was considered. CONCLUSION: This study is the first prenatal case of MAST1-related disorder reported in the Chinese population and has expanded the mutation spectrum of the MAST1 gene.


Assuntos
Vermis Cerebelar , Leucoencefalopatias , Malformações do Desenvolvimento Cortical , Malformações do Sistema Nervoso , Gravidez , Feminino , Humanos , Adulto , Vermis Cerebelar/diagnóstico por imagem , Cerebelo/diagnóstico por imagem , Cerebelo/anormalidades , Malformações do Desenvolvimento Cortical/genética , Feto/anormalidades , DNA , Deficiências do Desenvolvimento
3.
J Obstet Gynaecol Res ; 47(11): 3779-3788, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34571575

RESUMO

OBJECTIVE: This study aimed to explore the correlation between the ultrasound phenotype and copy number variation (CNV) of abnormal embryos in spontaneous abortion by investigating the abnormal chromosome copy number of embryos at different developmental stages in early spontaneous abortion. METHODS: A total of 539 patients who had early spontaneous abortion in our hospital between 2015 and 2019 were divided into seven groups according to the phenotype of abnormal embryonic development during pregnancy, and the embryonic tissues of the patients were subjected by single nucleotide polymorphism (SNP) microarray. RESULTS: Among 377 cases with abnormal CNV, 295 (78.25%) cases had chromosome trisomy, and 28 (7.43%) cases had a combination of more than two chromosomes. Triploidy, tetraploidy, chromosome microdeletion/duplication, uniparental disomy, and monosomy 45,X were found in 32 (8.48%), five (1.32%), 31 (8.22%), four (1.02%), and eight (2.12%) cases, respectively. Two (0.53%) cases had autosomal chromosome 21 monosomy. Normal karyotype had the highest proportion in the empty sac group; trisomy 16 accounted for the bulk of chromosomes in the normal yolk sac group, complex triploidy occupied the most part in the abnormal yolk sac group, and no remarkable difference in chromosomal abnormality proportion was found between the normal and abnormal yolk sac groups; the most frequent chromosomal anomaly in a group of germ without cardiac activity and germ<5 mm was trisomy 16; triploidy was the most common in the group with 5 mm ≤ germ ≤ 15 mm, whereas the main distribution of chromosome karyotype was normal, followed by trisomy 13 in a group with germ>15 mm. CONCLUSION: Abnormal embryos with different ultrasound phenotypes in early spontaneous abortion have various CNV types and characteristic distribution. Thus, ultrasound combined with SNP array can provide a basis for the etiological analysis of embryos in spontaneous abortion.


Assuntos
Aborto Espontâneo , Variações do Número de Cópias de DNA , Aborto Espontâneo/genética , Aberrações Cromossômicas , Feminino , Humanos , Monossomia , Fenótipo , Gravidez , Trissomia/genética
4.
J Med Ultrason (2001) ; 46(2): 273-275, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30637595

RESUMO

Persistent truncus arteriosus (PTA) is a relatively uncommon congenital heart disease, accounting for approximately 0.7-1.4% of all congenital cardiac abnormalities worldwide. PTA is usually accompanied by a single semilunar valve, with leaflets ranging from one to six in number. However, absent semilunar valve (ASV) is rarely seen in PTA. Here, we report a case of prenatally diagnosed PTA accompanied by ASV (PTA-ASV) confirmed by postmortem autopsy.


Assuntos
Doenças Fetais/diagnóstico por imagem , Valvas Cardíacas/anormalidades , Persistência do Tronco Arterial/diagnóstico por imagem , Aborto Induzido , Ecocardiografia , Feminino , Cardiopatias Congênitas/diagnóstico por imagem , Humanos , Gravidez , Primeiro Trimestre da Gravidez , Ultrassonografia Pré-Natal , Adulto Jovem
5.
Mol Med Rep ; 18(6): 5760-5764, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30365056

RESUMO

Hydrocephalus due to aqueductal stenosis (HSAS; Online Mendelian Inheritance in Man #307000) is a rare X­linked, recessively­inherited disease characterized by severe hydrocephaly and occasionally adducted thumbs, in addition to intellectual disability and spasticity in surviving individuals. The present study described two fetuses with severely enlarged ventricles of the brain. The clinical diagnosis of HSAS was made on the basis of family history and sonographic findings. Molecular testing of the L1 cell adhesion molecule (L1CAM) gene revealed two novel hemizygous L1CAM variants, c.998C>T(p.Pro333Leu) and c.2362G>T(p.Val788Phe). The variants affect the highly conserved amino acids which are located in the key domains of the protein (the fourth Ig domain and second FnIII domain, respectively). The two variants were predicted to be 'disease causing' by a number of prediction tools, and have been classified as likely pathogenic following the American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines. The present study highlights the importance of combining family history, prenatal ultrasonography and molecular testing in the diagnosis of HSAS. The novel variants expand the mutational spectrum of L1CAM gene in the Chinese population, and could be used in genetic counseling, carrier testing of female relatives, and prenatal, as well as preimplantation genetic diagnosis.


Assuntos
Aqueduto do Mesencéfalo/anormalidades , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/genética , Variação Genética , Hidrocefalia/diagnóstico , Hidrocefalia/genética , Molécula L1 de Adesão de Célula Nervosa/genética , Substituição de Aminoácidos , Análise Mutacional de DNA , Feminino , Feto , Genes Ligados ao Cromossomo X , Genótipo , Humanos , Masculino , Mutação , Linhagem , Fenótipo , Ultrassonografia Pré-Natal , Adulto Jovem
6.
J Med Ultrason (2001) ; 45(2): 341-344, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28752252

RESUMO

Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare complex congenital heart defect. Major artery-pulmonary collateral arteries (MAPCAs) are characteristic of PA-VSD. Prenatal diagnosis can be achieved in most cases of PA-VSD with recent advances in echocardiography. However, it is extremely rare that all MAPCAs can be observed on the echocardiograph. Here, we report a case of prenatally diagnosed type C PA-VSD in which all the MAPCAs could be seen on the echocardiograph, with the diagnosis supported by autopsy evidence.


Assuntos
Defeitos dos Septos Cardíacos/diagnóstico por imagem , Atresia Pulmonar/diagnóstico por imagem , Ultrassonografia Pré-Natal , Adulto , Ecocardiografia Doppler em Cores , Feminino , Humanos , Gravidez
7.
J Med Ultrason (2001) ; 44(4): 281-287, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28224306

RESUMO

OBJECTIVE: To evaluate the accuracy of oblique view extended imaging (OVEI) in locating the position of the fetal conus medullaris. METHODS: One hundred and twenty-two normal fetuses and five counterparts with spinal bifida received prenatal ultrasound examination. The vertebral body at the terminal of the conus medullaris and the coronal section of over five vertebral bodies were reconstructed using OVEI. Development of the nervous system of normal fetuses was assessed at postnatal day 28. For spinal bifida cases, pathological examination was performed. RESULTS: Among 127 fetuses, the conus medullaris was accurately positioned in 120 (94.0%) cases according to OVEI. OVEI failed to locate the conus medullaris in three healthy fetuses due to obesity of the mother and four cases with spinal bifida due to abnormal fetal position. The conus medullaris was located at L3 or above in 115 healthy fetuses. The conus medullaris was positioned below L4 in five fetuses with spinal bifida, including L5 in two, S1 in two, and S3 in one, which was consistent with the findings of pathological examination. CONCLUSIONS: OVEI can display the 12th rib, T12, and conus medullaris simultaneously. OVEI is applicable to precisely locate the position of the conus medullaris and useful for prenatal evaluation of spinal bifida.


Assuntos
Medula Espinal/diagnóstico por imagem , Coluna Vertebral/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Adulto , Feminino , Idade Gestacional , Humanos , Gravidez , Disrafismo Espinal/diagnóstico por imagem , Ultrassonografia Doppler em Cores
8.
Echocardiography ; 33(10): 1611-1613, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27779342

RESUMO

We report a case in which Berry syndrome is diagnosed by fetal echocardiography. Fetal echocardiography showed that the ascending aorta, main pulmonary artery, left pulmonary artery, and right pulmonary artery were presented as a vascular complexity in the three vessels and pulmonary arterial branches view.


Assuntos
Aorta Torácica/anormalidades , Aorta Torácica/diagnóstico por imagem , Ecocardiografia/métodos , Artéria Pulmonar/anormalidades , Artéria Pulmonar/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Diagnóstico Diferencial , Cardiopatias Congênitas/diagnóstico por imagem , Humanos , Síndrome
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...