Results 191 to 200 of about 172,842 (307)

Prenatal ultrasound diagnosis of poland syndrome [PDF]

, 2004
D'ARMIENTO, MARIA, MARTINELLI, PASQUALE, PALADINI, DARIO   +2 more
core   +1 more source

NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao, Gang Zou, Mengmeng Shi, Kwok Ming Law, So Ling Lau, Meng Meng, Yuen Ha Ting, Chiu Yee Liona Poon, Zirui Dong, Matthew Hoi Kin Chau, Tak Yeung Leung, Kwong Wai Choy, Xinwen Zhang, Ye Cao   +13 more
wiley   +1 more source

Prenatal Care and Perinatal Regionalization for Congenital Heart Defects.

JAMA Netw Open
Laternser C, Grobman WA, Albaro C, Anderson BR, Batton B, Yee LM, Woo JL.   +6 more
europepmc   +1 more source

Relationships among depression, anxiety and suicidal ideation in parents of children with congenital heart defects: A dynamic triad. [PDF]

World J Psychiatry
Chinawa JM, Adiele DK, Chinawa AT, Ossai EN, Onyia JT, Onukwuli VO, Chime PU.   +6 more
europepmc   +1 more source

CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin, Tania Dery, Tamar Tenne, Racheli Goldfarb Yaacobi, Emilie Block, Marina Lifshitc Kalis, Hagar Mor‐Shaked, Liza Douiev‐Charpak, Rivka Birnbaum, Mordechai Shohat, Ofer Markovich, Debora Kidron, Rivka Sukenik‐Halevy   +12 more
wiley   +1 more source

Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review

Prenatal Diagnosis, EarlyView.
ABSTRACT The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in structurally abnormal fetuses, with particular focus on factors affecting diagnostic yield.
Karen Mei Xian Lim, Alexander Gibbs, Elizabeth Scotchman, Graeme Smith, Lyn S. Chitty, Natalie J. Chandler   +5 more
wiley   +1 more source

Prenatal exposure to vanadium and lead and its impact on the risk of congenital heart defects in neonates: evidence from the Lanzhou Birth Cohort. [PDF]

Front Public Health
Wei Y, Sun J, Wu Z, Teng L, Huang J, Jiao X, Dang Y, Zhao X, Zhang Y, Tuo S, Mao B, Liu Q.   +11 more
europepmc   +1 more source

Fetal Instability and Resuscitative Management During Fetal Intervention: A Retrospective, Descriptive Analysis of 245 Fetal Cardiac and Spina Bifida Procedures

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The heterogeneity of fetal surgery has led to variability in the nature and frequency of fetal instability. Understanding these differences is critical for optimizing management. Methods We reviewed all fetal atrial septal interventions (FASI) and fetoscopic myelomeningocele (fMMC) repairs with fetal instability performed at our ...
Claire A. Naus, Betul Yilmaz Furtun, Jessian L. Munoz, Rebecca M. Johnson, Carolyn A. Altman, Michael A. Belfort, Luc Joyeux, Alice King, David G. Mann, Shaine Morris, Athar M. Qureshi, Magdalena Sanz Cortes, William E. Whitehead, Caitlin D. Sutton   +13 more
wiley   +1 more source

DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects. [PDF]

Genome Med
Dombrowsky G, van der Laan L, Silva A, Breckpot J, Audain E, Wilsdon A, Levy MA, Vos N, Mannens M, Wang J, Jain A, Lesurf R, Winlaw D, Bezzina CR, Thomas MA, Caliebe A, Klaassen S, Berger F, Dittrich S, Stiller B, Abdul-Khaliq H, Dähnert I, Bu'Lock F, Loughna S, Brook JD, Mital S, Russell RB, Pickardt T, Bauer U, Kramer HH, Uebing A, Henneman P, Sadikovic B, Postma A, Hitz MP.   +34 more
europepmc   +1 more source

Jervell and Lange‐Nielsen Syndrome Related Clinical Genetics and Experimental Models

Pediatric Discovery, EarlyView.
ABSTRACT Jervell and Lange‐Nielsen syndrome (JLNS) is defined by electrocardiographic QT prolongation and sensorineural hearing loss, caused by homozygous or compound heterozygous variants in KCNQ1 and/or KCNE1. KCNQ1 encodes the alpha subunit Kv7.1 of the ion channels accountable for slow delayed rectifier potassium currents (IKs), whereas KCNE1 ...
Yafei Zhou, Christopher L.‐H. Huang, Ying Yang, Yanmin Zhang   +3 more
wiley   +1 more source