Results 11 to 20 of about 4,096,588 (418)

Association of prenatal diagnosis of critical congenital heart disease with postnatal brain development and the risk of brain injury [PDF]

JAMA pediatrics, 2016
IMPORTANCE: The relationship of prenatal diagnosis of critical congenital heart disease (CHD) with brain injury and brain development is unknown. Given limited improvement of CHD outcomes with prenatal diagnosis, the effect of prenatal diagnosis on brain
Barkovich, A. James, Campbell, Andrew, Chakkarapani, Elavazhagan, Chau, Vann, De Santiago, Veronica, McQuillen, Patrick, Miller, Steven, Peyvandi, Shabnam, Poskitt, Kenneth J., Xu, Duan   +9 more
core   +2 more sources

Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta‐analysis

Prenatal Diagnosis, 2022
We conducted a systematic review and meta‐analysis to determine the diagnostic yield of exome sequencing (ES) for prenatal diagnosis of fetal structural anomalies, where karyotype/chromosomal microarray (CMA) is normal.
Rhiannon Mellis, Kathryn Oprych, E. Scotchman, M. Hill, L. Chitty   +4 more
semanticscholar   +1 more source

International Society for Prenatal Diagnosis Updated Position Statement on the use of genome‐wide sequencing for prenatal diagnosis

Prenatal Diagnosis, 2022
The research and clinical use of genome‐wide sequencing for prenatal diagnosis of fetuses at risk for genetic disorders have rapidly increased in recent years.
I. B. Van den Veyver, N. Chandler, L. Wilkins-Haug, R. Wapner, L. Chitty   +4 more
semanticscholar   +1 more source

Assessment of Combined Karyotype Analysis and Chromosome Microarray Analysis in Prenatal Diagnosis: A Cohort Study of 3710 Pregnancies

Genetics Research, 2022
Objective. The current study aimed to compare the characteristics of chromosome abnormalities detected by conventional G-banding karyotyping, chromosome microarray analysis (CMA), or fluorescence in situ hybridization (FISH)/CNVplex analysis and further ...
Jin Wang, Danni Wang, Yan Yin, Yi Deng, Mengling Ye, Ping Wei, Zhuo Zhang, Chun Chen, Shengfang Qin, Xueyan Wang   +9 more
doaj   +1 more source

Characteristics and mechanisms of mosaicism in prenatal diagnosis cases by application of SNP array

Molecular Cytogenetics, 2023
Background With the application of chromosome microarray, next-generation sequencing and other highly sensitive genetic techniques in disease diagnosis, the detection of mosaicism has become increasingly prevalent.
Lili Zhou, Huanzheng Li, Chenyang Xu, Xueqin Xu, Zhaoke Zheng, Shaohua Tang   +5 more
doaj   +1 more source

Clinical application of chromosomal microarray analysis for fetuses with craniofacial malformations

Molecular Cytogenetics, 2020
Background The potential correlations between chromosomal abnormalities and craniofacial malformations (CFMs) remain a challenge in prenatal diagnosis.
Chenyang Xu, Yanbao Xiang, Xueqin Xu, Lili Zhou, Huanzheng Li, Xueqin Dong, Shaohua Tang   +6 more
doaj   +1 more source

Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.

New England Journal of Medicine, 2020
BACKGROUND The cause of most fetal anomalies is not determined prenatally. Exome sequencing has transformed genetic diagnosis after birth, but its usefulness for prenatal diagnosis is still emerging.
T. Sparks, B. Lianoglou, Rebecca Adami, Ilina D. Pluym, K. Holliman, J. Duffy, S. Downum, Sachi Patel, Amanda Faubel, N. Boe, N. Field, A. Murphy, L. Laurent, Jennifer Jolley, C. Uy, A. Slavotinek, P. Devine, U. Hodoğlugil, J. Van Ziffle, Stephan J Sanders, T. Mackenzie, M. Norton   +21 more
semanticscholar   +1 more source

Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis. [PDF]

, 2020
BACKGROUND: Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features.
Barker, R, Cockell, A, Haworth, A, Homfray, T, Pemberton, L, Ramachandran, V   +5 more
core   +1 more source

Sonographic measure techniques of fetal penile length [PDF]

Obstetrics & Gynecology Science, 2020
Postnatal penile length is a reliable, standardized, and widely used marker for the diagnosis of genitourinary pathology, as well as genetic and hormonal disorders.
Álvaro López Soto, Jose Luis Meseguer González, Rocío López-Perez, Mónica Lorente Fernández, Juan Martínez-Uriarte, Olivia García Izquierdo   +5 more
doaj   +1 more source

Socioeconomic barriers to prenatal diagnosis of critical congenital heart disease

Prenatal Diagnosis, 2020
The study was designed to assess the impact of socioeconomic barriers on the rate of prenatal diagnosis of critical congenital heart disease (CCHD).
M. D. Campbell, S. Lorch, J. Rychik, Michael D Quartermain, M. Passarella, P. Groeneveld   +5 more
semanticscholar   +1 more source