Results 71 to 80 of about 22,195,386 (187)

Beyond the Negative: Insights From Postnatal Medical Genetics Follow‐Up After Nondiagnostic Prenatal Exome Sequencing

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate postnatal medical genetic reassessment and reinterpretation of prenatal exome sequencing (pES) in liveborn children with prenatally identified structural anomalies and nondiagnostic prenatal genetic testing. Method We performed a retrospective chart review of 61 liveborn children with fetal structural anomalies who had ...
Sophie Albert, Anne Swenerton, Kirsten M. Niles, Sylvie Langlois, Jessica L. Zambonin   +4 more
wiley   +1 more source

Genetic Investigation in Fetal Growth Restriction: An Integrated Approach for Clinical Practice

Prenatal Diagnosis, EarlyView.
ABSTRACT International guidelines recommend genetic testing when fetal growth restriction (FGR) accompanies structural anomalies, but recommendations for apparently isolated FGR remain variable, particularly regarding gestational age thresholds and the role of exome sequencing (ES). Interpretation is difficult because studies define FGR inconsistently,
Eran Ashwal, David Chitayat
wiley   +1 more source

Diagnostic Yield of Sequencing in Prenatal Agenesis of the Corpus Callosum in a Well‐Phenotyped International Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the incremental diagnostic yield of sequencing in a large, well‐phenotyped international cohort of fetuses with prenatally diagnosed agenesis of the corpus callosum (ACC) and to identify associated genes and variants. Methods Retrospective multicenter cohort study of fetuses with a prenatal diagnosis of ACC undergoing ...
Lorraine Dugoff, Natalie Chandler, Stephanie Allen, Sarah A. Graham, Vicki Harrison, Anne McCabe, Anna de Burca, Audrey Smith, Erina Sasaki, Mairead Hagarty, Juliana S. Gebb, Shelly Soni, Sonika Agarwal, Beverly G. Coleman, Haley M. Crane, Mary E. Norton, Billie R. Lianoglou, Alex Gibbs, Lyn S. Chitty   +18 more
wiley   +1 more source

Prenatal diagnosis of posterior fossa anomalies: Additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia

, 2017
Objective: To elucidate the relationship between copy number variations (CNVs) detected by high-resolution chromosomal microarray analysis (CMA) and the type of prenatal posterior fossa anomalies (PFAs), especially cerebellar hypoplasia (CH).Methods ...
Luo, Yanmin, Zhiming He, He, Zhiming, Zhiyong Zou, Yi Zhang, Zhang, Yi, Shaobin Lin, Linhuan Huang, Zhu, Hui, Zou, Zhiyong, Lin, Shaobin, Fang, Qun, Qun Fang, Yanmin Luo, Huang, Linhuan, Hui Zhu   +15 more
core   +1 more source

Clinical application of chromosome microarray analysis and karyotyping in prenatal diagnosis in Northwest China

Frontiers in Genetics
IntroductionKaryotyping and chromosome microarray analysis (CMA) are the two main prenatal diagnostic techniques currently used for genetic testing. We aimed to evaluate the value of chromosomal karyotyping and CMA for different prenatal indications ...
ShuYuan Xue, ShuYuan Xue, YuTong Liu, LiXia Wang, Le Zhang, Bozhen Chang, GuiFeng Ding, PengGao Dai   +7 more
doaj   +1 more source

Anatomical–Motor Level Discrepancy in Prenatal Diagnosis of Open Spinal Dysraphism: A 12‐Year Retrospective Observational Study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objectives To quantify the discrepancy between anatomical and motor levels in foetuses with open spinal dysraphism and identify prenatal factors associated with this difference. We also examined associations between anatomical level and ultrasound findings. Design Retrospective observational study.
Silvia Arévalo, Elena Moreno, Mar Meléndez, Carlos Giné, Carlota Rodó, Alba Casellas, Alba Farràs, Manel Mendoza, Nerea Maiz   +8 more
wiley   +1 more source

Chromosomal microarray findings in pregnancies with an isolated pelvic kidney

, 2018
ObjectiveTo examine the risk for abnormal chromosomal microarray analysis (CMA) results among fetuses with an apparently isolated pelvic kidney.MethodsData from all CMA analyses performed due to an isolated pelvic kidney reported to the Israeli Ministry ...
Shay Ben Shachar, Lena Sagi-Dain, Reuven Sharony, Idit Maya, Lilach Benyamini, Ayala Frumkin, Arie Koifman, Shlomit Rienstein, Morad Kahyat, Adel Shalata, Amihood Singer, Reeval Segel   +11 more
core   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of fetuses with central nervous system anomalies using chromosomal microarray analysis: a seven-year single-center retrospective study

Scientific Reports
Few existing reports have investigated the copy number variants (CNVs) in fetuses with central nervous system (CNS) anomalies. To gain further insights into the genotype–phenotype relationship, we conducted chromosomal microarray analysis (CMA) to reveal
Jianlong Zhuang, Na Zhang, Yu’e Chen, Yuying Jiang, Xinying Chen, Wenli Chen, Chunnuan Chen   +6 more
doaj   +1 more source

Reproductive outcomes in couples with sporadic miscarriage after embryonic chromosomal microarray analysis

, 2023
Chromosomal microarray analysis (CMA) has been widely applied to genetic diagnosis in miscarriages in clinical practice. However, the prognostic value of CMA testing of products of conception (POCs) after the first clinical miscarriage remains unknown ...
Ping Hu (59156), Qiaoying Zhu (5749586), Lulu Meng (6708767), Ran Zhou (1450756), Yiming Li (40290), Jianxin Tan (806663), Hui Zhu (87035), Fengchang Qiao (542548), Yan Wang (15435), Mingtao Huang (4953664), Zhengyi Xia (10686701), Zhengfeng Xu (276105)   +11 more
core   +1 more source

Prenatal Diagnostic Testing Following High-Risk Result from Serological Screening: Which Shall We Select?

International Journal of Women's Health, 2021
Jing Wang,1,* Xin-xin Tang,2,* Qin Zhou,1 Shuting Yang,2 Ye Shi,1 Bin Yu,1 Bin Zhang,1 Lei-lei Wang2 1Changzhou Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Changzhou, 213003, Jiangsu Province, People’s ...
Wang J, Tang X, Zhou Q, Yang S, Shi Y, Yu B, Zhang B, Wang L   +7 more
doaj