Results 201 to 210 of about 366,922 (396)

Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES‐CNV/SNV) in fetuses with structural anomalies following negative chromosomal microarray analysis (CMA) and karyotyping, and to delineate the practical challenges encountered ...
Yulin Jiang, Haibo Li, Xiangyu Zhu, Liangpu Xu, Ying Chang, Fengqun Dong, Jianping Xiao, Jian Gao, Minyue Dong, Ying Peng, Hua Jin, Ting Wang, Xiaoxiao Xie, Lin Zhang, Hongmei Zhuang, Na Hao, Xiya Zhou, Hongna Wang, Ying You, Kun Ma, Rui Xiao, Qingwei Qi   +21 more
wiley   +1 more source

High Familial Recurrence of Congenital Heart Defects in Laterality Defects Patients: An Evaluation of 184 Families [PDF]

, 2021
Huifang Hu, Wei-Cheng Chen, Wei Sheng, Guoying Huang   +3 more
openalex   +1 more source

The Incremental Yield of CMA Over Karyotype in Fetal Growth Restriction—A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT The main objective of our study was to conduct a systematic literature review and a meta‐analysis to evaluate the incremental yield of chromosomal microarray analysis compared with karyotyping in cases of fetal growth restriction. Our review was designed according to the PRISMA guidelines.
Ioakeim Sapantzoglou, Evangelia Kontogeorgi, Vasilios Pergialiotis, Konstantinos Tasias, Angeliki Rouvali, Afroditi Pegkou, Marianna Theodora, Georgios Daskalakis, Panagiotis Antsaklis   +8 more
wiley   +1 more source

Ventriculomegaly, Intrauterine Growth Restriction, and Congenital Heart Defects as Salient Prenatal Sonographic Findings of Miller-Dieker Lissencephaly Syndrome Associated With Monosomy 17p (17p13.2 → pter) in a Fetus

, 2010
Chih‐Ping Chen, Yu‐Peng Liu, Shaun-Pei Lin, Ming Chen, Fuu‐Jen Tsai, Yuting Chen, Li-Feng Chen, Jonathan Kwei Hwang, Wayseen Wang   +8 more
openalex   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Thoracic Abnormalities

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This study aims to identify the imaging findings specifically for thoracic anomalies in 1200 Micro‐CT cases, independent of whether the abnormality contributed to the main diagnosis or cause of death. Method We analyzed 1200 Micro‐CT scans in an unselected, consecutive cohort between 2017 and 2024 to identify thoracic anomalies ...
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source

Maternal cholesterol deficiency predisposes congenital heart defects risk. [PDF]

Signal Transduct Target Ther
Gu Y, Gao J, Lv H, Zhou Y, Jiang T, Guo J, Ma W, Cheng Y, Chi X, Xi Q, Ye K, Du J, Li J, Wang C, Dai J, Ma H, Jin G, Lin Y, Shen H, Hu Z.   +19 more
europepmc   +1 more source

Clinical investigation of congenital heart defects in prenatal life: a retrospective study on 198 cases [PDF]

, 2017
Qin Wu, W.B. Wang, Liya Zheng, Lei Sun, Xiaoyun Zhong, Yi Xu, Xiaoxiao Xie, Zhen Su   +7 more
openalex   +1 more source

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani, John Boscardin, Billie R. Lianoglou, Katie Tick, Carmen M. A. Santoli, Kristen A. Miller, Angie C. Jelin, Lorraine Dugoff, Rose Giardine, Cori Feist, Rachel Pilliod, Stephanie Dukhovny, Kelly Gilmore, Neeta L. Vora, Aisling Murphy, Peter N. Robinson, Mary E. Norton, Teresa N. Sparks   +17 more
wiley   +1 more source

Association of maternal asthma with congenital heart defects in offspring. [PDF]

Acta Obstet Gynecol Scand
Kemppainen M, Kirjavainen T, Helle E, Gissler M.   +3 more
europepmc   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source