Results 171 to 180 of about 93,775 (303)

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

Significance of Pregnancy-Associated Plasma Protein-A Combined with Four-Dimensional Umbilical Artery Doppler in Fetal Growth Restriction: A Case-Control Study. [PDF]

Int J Womens Health
Yan X, He Y, Wang Y, Wang H.
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

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

Double umbilical artery converging into a single umbilical artery: A case report. [PDF]

Medicine (Baltimore)
Yang C, Yang X, Qiu L, Liu Z.
europepmc   +1 more source

Umbilical Artery Doppler Indices in Hypertensive Disorders of Pregnancy: Impact on Fetal Outcomes. [PDF]

Cureus, 2023
Mahajan KS, Dewani D, Duragkar S.
europepmc   +1 more source

Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early‐Onset Monogenic Disorders

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the genetic etiologies and clinical significance of fetal tympanic ring abnormalities detected during second‐trimester ultrasound in the absence of microtia. Method Between November 2019 and June 2024, we examined the fetal tympanic rings of 10,277 unselected pregnant women during the 20–22 weeks of morphology ...
Yung Hang Lam, Mengmeng Shi, Zirui Dong, Kwong Wai Choy, Tak Yeung Leung, Ye Cao   +5 more
wiley   +1 more source

The role of the Mod-MPI in identifying cardiac dysfunction in FGR fetuses stratified by umbilical artery flow abnormalities. [PDF]

BMC Pregnancy Childbirth
Arslanoğlu T, Bilirer KK, Uludağ S, Arslan HÇ, Çetinkaya M, Dane BK, Polat İ.   +6 more
europepmc   +1 more source

Hypertrophic Cardiomyopathy as a Key Feature of MRAS‐Related Noonan Syndrome: New Case and Comprehensive Literature Review

Prenatal Diagnosis, EarlyView.
ABSTRACT Noonan syndrome (NS) is a rare multisystemic condition among the RASopathy group, characterized by a broad phenotypic spectrum and genetic variability. It results from pathogenic variants in genes regulating the RAS/MAPK pathway, affecting cell proliferation and differentiation.
Romain Martineau, Constance Wells, Florent Fuchs, Sophie Collardeau‐Frachon, Valentin Ruault, Sophie Colomb, Jean‐Michel Faure, Caroline Bartholmot, Marie Vincenti, Benjamin Ganne, Marjolaine Willems   +10 more
wiley   +1 more source

Umbilical venous catheter misplacement due to unexpected supernumerary patent umbilical artery. [PDF]

Matern Health Neonatol Perinatol
Papoff P, D'Agostino B, Bitti A, Pennetta V, Avarino V, Caresta E.   +5 more
europepmc   +1 more source