Results 71 to 80 of about 1,919 (215)

The first live term birth following uterus transplantation in Australia

Medical Journal of Australia, Volume 223, Issue 8, Page 404-409, October 2025.
Abstract Objective To report the first live birth following uterus transplantation in Australia. Study design Case report. Setting, participant The first participant in the uterus transplantation research study program at the Royal Hospital for Women, the Prince of Wales Hospital, and Westmead Hospital in Sydney.
Rebecca Deans, Brigitte Gerstl, Antonia W Shand, Sarah Lyons, Aaron Budden, Helen L Barrett, Grant Luxton, Mangalee Fernando, Kenneth Yong, Karen Keung, Kaushalya Arulpragasam, Henry Pleass, King Man Wan, Eva Kehag, Jana‐Emily Pittman, Mianna Lotz, Maria Fenn, Erin Nesbitt‐Hawes, Lily Byun, Katrina Tang, Mats Brannstrom, Jason Abbott   +21 more
wiley   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Aumento de la translucencia nucal y flujo reverso del ductus venoso en cardiopatía congénita: Reporte de un caso en Caracas, Venezuela Increased foetal nuchal translucency and reverse flow of the ductus venosus in congenital cardiopathy

Revista Colombiana de Obstetricia y Ginecología, 2008
Introducción: el aumento de la translucencia nucal (TN) fetal aumentada, en la gestación entre las 11 y 14 semanas, es una expresión fenotípica común de anormalidades cromosómicas, incluyendo la trisomía 21.
Cristian Sosa, Libardo Gómez, Carlos Bermúdez, Juan Pérez-Wulff   +3 more
doaj  

Prenatal Diagnosis of Pentalogy of Cantrell with Increased Nuchal Translucency: Case Report

Gynecology Obstetrics & Reproductive Medicine, 2011
Pentalogy of Cantrell is a rare sporadic syndrome with unknown etiology. We aimed to present a prenatally diagnosed case of pentalogy of Cantrell associated with increased nuchal translucency (NT). A twenty-two year old G2P0A1 pregnant woman was admitted
Deniz Cemgil Arıkan, Semih Yancar, Fethi Güçer, Ender Zencir, Hakan Beyazıt   +4 more
doaj  

Evaluation of Array Comparative genomic Hybridisation in prenatal diagnosis of fetal anomalies: a multicentre cohort study with cost analysis and assessment of patient, health professional and commissioner preferences for array comparative genomic hybridisation

Efficacy and Mechanism Evaluation, 2017
Background: Current pathways for testing fetuses at increased risk of a chromosomal anomaly because of an ultrasound anomaly involve karyotyping after rapid aneuploidy exclusion.
Stephen C Robson, Lyn S Chitty, Stephen Morris, Talitha Verhoef, Gareth Ambler, Diana G Wellesley, Ruth Graham, Claire Leader, Jane Fisher, John A Crolla   +9 more
doaj   +1 more source

First- and Second-trimester Down Syndrome Screening: Current Strategies and Clinical Guidelines

Taiwanese Journal of Obstetrics & Gynecology, 2008
Down syndrome (DS) is the most common human disease caused by a structural chromosome defect. The original screening test for DS was maternal age or a history of a previously affected infant.
Sheng-Wen Shaw, Jenn-Jeih Hsu, Chien-Nan Lee, Ching-Hua Hsiao, Chih-Ping Chen, T'sang-T'ang Hsieh, Po-Jen Cheng   +6 more
doaj   +1 more source

The implementation of first‐trimester scanning at 10–13 weeks' gestation and the measurement of fetal nuchal translucency thickness in two maternity units [PDF]

, 1995
Pranav Pandya, H. Goldberg, B Walton, Andrew Riddle, Sue A. Shelley, R. J. M. Snijders, K. H. Nicolaides   +6 more
openalex   +1 more source

Increased Nuchal Translucency and Pregnancy Outcomes: A Tertiary Center Data

Düzce Tıp Fakültesi Dergisi
Aim: This study aimed to evaluate the pregnancy outcomes of patients who applied to our clinic between the 11th and 14th weeks of pregnancy and whose nuchal translucency (NT) measurement was ≥1.5 multiples of the median (MoM).
Hanım Güler Şahin, Mustafa Bağcı, Erbil Karaman, Onur Karaaslan, Kazım Uçkan   +4 more
doaj   +1 more source

Maternal Parvovirus B19 Infection Causing First-Trimester Increased Nuchal Translucency and Fetal Hydrops

Case Reports in Obstetrics and Gynecology, 2019
This is a case report of a 31-year-old primigravida who was diagnosed with an asymptomatic acute parvovirus B19 infection in the second trimester of pregnancy and its suspected association with an increased nuchal translucency (NT) measurement ...
Olivia Grubman, Farrah Naz Hussain, Zoe Nelson, Lois Brustman   +3 more
doaj   +1 more source

Comparison between two methods of standardization for gestational age differences in fetal nuchal translucency measurement in first‐trimester screening for trisomy 21 [PDF]

, 1997
R Biagiotti, Enrico Periti, L. Brizzi, E. Vanzi, E Cariati   +4 more
openalex   +1 more source