Cargando…

Detection of complex deletions in chromosomes 13 and 21 in a fetus by noninvasive prenatal testing

BACKGROUND: To detect complex fetal subchromosomal abnormalities by noninvasive prenatal testing (NIPT). CASE PRESENTATION: After routine prenatal serum screening, the plasma of high-risk pregnant women were tested via NIPT, and the NIPT results were further validated by fetal karyotype analysis and...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Ting, Duan, Chengying, Shen, Cong, Xiang, Jingjing, He, Quanze, Ding, Jie, Wen, Ping, Zhang, Qin, Wang, Wei, Liu, Minjuan, Li, Hong, Li, Haibo, Zhang, Lili
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2016
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4709980/ https://www.ncbi.nlm.nih.gov/pubmed/26759606 http://dx.doi.org/10.1186/s13039-016-0213-4

Ejemplares similares

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

Chromosomal microarray analysis versus noninvasive prenatal testing in fetuses with increased nuchal translucency
por: Wang, Chaohong, et al.
Publicado: (2022)

Prenatal diagnosis of 21 fetuses with balanced chromosomal abnormalities (BCAs) using whole-genome sequencing
por: Fu, Fang, et al.
Publicado: (2022)

Terminal deletion of chromosome 13 in a fetus with normal NIPT: The added value of invasive prenatal diagnosis in the NIPT era
por: Vervecken, Evy, et al.
Publicado: (2020)

Clinical value for the detection of fetal chromosomal deletions/duplications by noninvasive prenatal testing in clinical practice
por: Gou, Lingshan, et al.
Publicado: (2021)

Submicroscopic chromosomal imbalances contribute to early abortion
por: Li, Haibo, et al.
Publicado: (2018)

Study on the Clinical Value of Noninvasive Prenatal Testing in Screening the Chromosomal Abnormalities of the Fetus in the Elderly Pregnant Women
por: Gu, Zhiping, et al.
Publicado: (2022)

Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia
por: Gu, Wei, et al.
Publicado: (2014)

An Optimized Method for Accurate Fetal Sex Prediction and Sex Chromosome Aneuploidy Detection in Non-Invasive Prenatal Testing
por: Wang, Ting, et al.
Publicado: (2016)

Outcome after Prenatal Diagnosis of Trisomy 13, 18, and 21 in Fetuses with Congenital Heart Disease
por: Springer, Stephanie, et al.
Publicado: (2022)

Prenatal detection of chromosomal abnormalities and copy number variants in fetuses with congenital gastrointestinal obstruction
por: Meng, Xinyue, et al.
Publicado: (2022)

Genome wide noninvasive prenatal testing detects microduplication of the distal end of chromosome 15 in a fetus: a case report
por: Sahinbegovic, Hana, et al.
Publicado: (2022)

Prenatal diagnosis of sex chromosomal inversion, translocation and deletion
por: Zhang, Lin, et al.
Publicado: (2018)

Presence of chromosomal abnormalities in fetuses with isolated ventriculomegaly on prenatal ultrasound in China
por: Zhao, Dan, et al.
Publicado: (2018)

Combined fetal fraction to analyze the Z-score accuracy of noninvasive prenatal testing for fetal trisomies 13, 18, and 21
por: Yang, Jiexia, et al.
Publicado: (2023)

Case Report: Candidate Genes Associated With Prenatal Ultrasound Anomalies in a Fetus With Prenatally Detected 1q23.3q31.2 Deletion
por: Song, Jiahao, et al.
Publicado: (2021)

Prenatal Diagnostic Value of Chromosomal Microarray in Fetuses with Nuchal Translucency Greater than 2.5 mm
por: Zhang, Zhu, et al.
Publicado: (2019)

An efficient method for noninvasive prenatal diagnosis of fetal trisomy 13, trisomy 18, and trisomy 21
por: Sun, Xiaohan, et al.
Publicado: (2019)

A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing
por: Zhao, Ganye, et al.
Publicado: (2019)

Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies
por: Jiang, Fuman, et al.
Publicado: (2012)

Prenatal Diagnosis and Outcomes in Fetuses with Hemivertebra
por: Zhou, Hang, et al.
Publicado: (2022)

Prenatal Detection of a FOXF1 Deletion in a Fetus with ACDMPV and Hydronephrosis
por: Bzdęga, Katarzyna, et al.
Publicado: (2023)

Associated Chromosomal Abnormalities in Fetuses Diagnosed Prenatally with Right Aortic Arch
por: PETRESCU, ANA-MARIA, et al.
Publicado: (2021)

Prenatal Diagnosis of Triploidy in Fetus with Unexpected Chromosomal Translocation of Maternal Origin
por: Jadhav, Ajinkya, et al.
Publicado: (2023)

Chromosome Microarray Analysis and Exome Sequencing: Implementation in Prenatal Diagnosis of Fetuses with Digestive System Malformations
por: Wang, You, et al.
Publicado: (2023)

Prenatal phenotypes and pregnancy outcomes of fetuses with recurrent 1q21.1 microdeletions and microduplications
por: Yue, Fagui, et al.
Publicado: (2023)

Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature
por: Kotani, Tomomi, et al.
Publicado: (2022)

Amniocentesis and Next Generation Sequencing (NGS)-Based Noninvasive Prenatal DNA Testing (NIPT) for Prenatal Diagnosis of Fetal Chromosomal Disorders
por: Qi, Qi-Ge, et al.
Publicado: (2021)

Clinical experience of noninvasive prenatal testing for rare chromosome abnormalities in singleton pregnancies
por: Hu, Ting, et al.
Publicado: (2022)

Clinical application of noninvasive prenatal testing in the detection of fetal chromosomal diseases
por: Pang, Yu, et al.
Publicado: (2021)

Prenatal diagnosis of fetuses conceived by assisted reproductive technology by karyotyping and chromosomal microarray analysis
por: Guo, Huan, et al.
Publicado: (2023)

Detection of 21q11.2‐q22.11 deletions in a fetus by NIPT
por: Zheng, Yunyun, et al.
Publicado: (2019)

Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA
por: Ma, Dingyuan, et al.
Publicado: (2017)

Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14
por: Sánchez, Javier, et al.
Publicado: (2012)

Enrichment of the fetal fraction in non-invasive prenatal screening reduces maternal background interference
por: Liang, Bo, et al.
Publicado: (2018)

Clinical Application of Noninvasive Prenatal Testing for Sex Chromosome Aneuploidies in Central China
por: Zhao, Ganye, et al.
Publicado: (2022)

Prenatal Diagnosis of a Fetus with Ring Chromosomal 15 by Two- and Three-Dimensional Ultrasonography
por: Britto, Ingrid Schwach Werneck, et al.
Publicado: (2014)

Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin
por: Kleinfinger, Pascale, et al.
Publicado: (2022)

Reliable detection of subchromosomal deletions and duplications using cell‐based noninvasive prenatal testing
por: Vossaert, Liesbeth, et al.
Publicado: (2018)

Noninvasive prenatal testing detects microdeletion abnormalities of fetal chromosome 15
por: Yin, Lianli, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_o8faniscar28qigdrr9glgse4t