Cargando…

Clinical value of genetic analysis in prenatal diagnosis of short femur

BACKGROUND: Fetal femur length (FL) is an important biometric index in prenatal screening. The etiology of short femur is diverse, with some pathogenic causes leading to adverse outcomes. To improve the accuracy and practicability of diagnosis, we investigated the value of genetic analysis in prenat...

Descripción completa

Detalles Bibliográficos
Autores principales:	Liu, Jialiu, Huang, Linhuan, He, Zhiming, Lin, Shaobin, Wang, Ye, Luo, Yanmin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825856/ https://www.ncbi.nlm.nih.gov/pubmed/31566912 http://dx.doi.org/10.1002/mgg3.978

Ejemplares similares

Prenatal diagnosis of Pallister‐Killian syndrome in one twin
por: Li, Lin, et al.
Publicado: (2018)

Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
por: Lin, Shaobin, et al.
Publicado: (2021)

Evaluation of a Microhaplotype-Based Noninvasive Prenatal Test in Twin Gestations: Determination of Paternity, Zygosity, and Fetal Fraction
por: Bai, Zhaochen, et al.
Publicado: (2020)

Intertwin nuchal translucency difference predicts the chance of co-twin death after fetal reduction in dichorionic triplet pregnancies: a retrospective analysis study
por: Xia, Shuting, et al.
Publicado: (2023)

Is an analysis of copy number variants necessary for various types of kidney ultrasound anomalies in fetuses?
por: Lin, Shaobin, et al.
Publicado: (2019)

Integrative profiling of extrachromosomal circular DNA in placenta and maternal plasma provides insights into the biology of fetal growth restriction and reveals potential biomarkers
por: Lin, Minhuan, et al.
Publicado: (2023)

When a vesicular placenta meets a live fetus: case report of twin pregnancy with a partial hydatidiform mole
por: Lin, Minhuan, et al.
Publicado: (2021)

Value of prenatal diagnosis of meconium peritonitis: Comparison of outcomes of prenatal and postnatal diagnosis
por: Chen, Cheng-Wei, et al.
Publicado: (2019)

Genetics in prenatal diagnosis
por: Lim, Karen Mei Xian, et al.
Publicado: (2023)

Increased Expression and Altered Methylation of HERVWE1 in the Human Placentas of Smaller Fetuses from Monozygotic, Dichorionic, Discordant Twins
por: Gao, Yu, et al.
Publicado: (2012)

Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy
por: Mao, Bin, et al.
Publicado: (2023)

The femur too short? 1373 fetuses with short femur during second-trimester screening
por: Friebe-Hoffmann, Ulrike, et al.
Publicado: (2022)

Prenatal diagnosis and genetic counseling of an inherited Xq24q25 deletion associated with normal phenotype
por: Zhou, Yaqing, et al.
Publicado: (2022)

Outcome of Fetuses with Diagnosis of Isolated Short Femur in the Second Half of Pregnancy
por: Morales-Roselló, José, et al.
Publicado: (2012)

Value of prenatal diagnosis of meconium peritoneum: Comparison of outcomes of prenatal and postnatal diagnosis: Erratum
Publicado: (2020)

Clinical and molecular cytogenetic studies of an unrecognised 22q11.2 deletion in three families
por: HUANG, LINHUAN, et al.
Publicado: (2015)

A case of I-cell disease (mucolipidosis II) presenting with short femurs on prenatal ultrasound and profound diaphyseal cloaking
por: Capobres, Thomas, et al.
Publicado: (2016)

The Value of a Comprehensive Genomic Evaluation in Prenatal Diagnosis of Genetic Diseases: A Retrospective Study
por: Fu, Fang, et al.
Publicado: (2022)

Distribution of maternal red cell antibodies and the risk of severe alloimmune haemolytic disease of the foetus in a Chinese population: a cohort study on prenatal management
por: Li, Si, et al.
Publicado: (2020)

Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly
por: Zhao, Peiwei, et al.
Publicado: (2021)

Prenatal genetic diagnosis of retinoblastoma – clinical correlates on follow-up
por: Neriyanuri, Srividya, et al.
Publicado: (2015)

Prenatal genetic diagnosis of monogenic diseases
por: Prior-de Castro, Carmen, et al.
Publicado: (2023)

Distal Femur Allograft Prosthetic Composite Reconstruction for Short Proximal Femur Segments following Tumor Resection
por: Moon, Bryan S., et al.
Publicado: (2013)

EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal Diagnosis
por: Wang, Ye, et al.
Publicado: (2020)

Genetic and Clinical Features of Heterotaxy in a Prenatal Cohort
por: Yi, Tong, et al.
Publicado: (2022)

Clinical Utility of the Prenatal BACs-on-Beads™ Assay in Invasive Prenatal Diagnosis
por: Jiang, Yu, et al.
Publicado: (2022)

Clinical value of color doppler ultrasound in prenatal diagnosis of umbilical cord entry abnormity
por: Sun, Jiandong, et al.
Publicado: (2016)

The Clinical Value of Prenatal Ultrasonography in the Differential Diagnosis of Fetal Suprarenal Space-Occupying Lesions
por: Zeng, Wen-Hua, et al.
Publicado: (2022)

Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis
por: Xie, Xiaorui, et al.
Publicado: (2023)

Prenatal Diagnosis and Genetic Analysis of a Fetus with Joubert Syndrome
por: Xiang, Jingjing, et al.
Publicado: (2018)

Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes
por: Lin, Liling, et al.
Publicado: (2020)

Osteoid Osteoma of the Proximal Femur: Pitfalls in Diagnosis and Performance of Open Surgical Resection
por: Zeng, Hao, et al.
Publicado: (2022)

Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review
por: Liu, Siping, et al.
Publicado: (2022)

Development of the cartilage canals and the secondary center of ossification in the distal chondroepiphysis of the prenatal human femur.
por: Burkus, J. K., et al.
Publicado: (1993)

Non-Invasive Prenatal Diagnosis in the Management of Preimplantation Genetic Diagnosis Pregnancies
por: Bustamante-Aragones †, Ana, et al.
Publicado: (2014)

Genetic analysis and prenatal diagnosis of 76 Chinese families with X‐linked adrenoleukodystrophy
por: Liu, Siwen, et al.
Publicado: (2021)

Challenges in prenatal and pre-implantation genetic diagnosis studies
por: Madon, Prochi
Publicado: (2014)

Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies
por: Dai, Mengyao, et al.
Publicado: (2020)

Prenatal Diagnosis of Euploid Increased Nuchal Translucency on Fetal Ultrasound (I): Noonan Syndrome: Prenatal Diagnosis and Genetic Testing
por: Chen, Chih-Ping
Publicado: (2022)

Study on the application value of BACs-on-Beads technology combined with chromosome karyotype analysis in prenatal diagnosis
por: Chen, Lin, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_8bdhn7b5esapjkit79miiqtfg6