Results 71 to 80 of about 15,249 (194)

RISKS OF AMNIOCENTESIS [PDF]

The Lancet, 1979
H, Bantock, I, Sutherland
openaire   +5 more sources

Alpha‐Mannosidosis in a 3.5‐Year‐Old Girl: A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Alpha‐mannosidosis is a rare lysosomal storage disease caused by a deficiency of the enzyme alpha‐mannosidase. It manifests as a continuous spectrum of signs and symptoms characterized by dysmorphic features, skeletal abnormalities, delayed psychomotor and speech development, impaired hearing, and psychiatric involvement. When suspected, alpha‐
Samuel Bonilla Fornes, Maria Pilar Mendez Perez, Marta Torres Diaz, Maria Eugenia Sanchez Gutierrez, Enrique Galán Gómez   +4 more
wiley   +1 more source

Mosaic trisomy 22 at amniocentesis: Prenatal diagnosis and literature review

Taiwanese Journal of Obstetrics & Gynecology, 2019
Objective: We present prenatal diagnosis of mosaic trisomy 22 at amniocentesis in a pregnancy with facial cleft, oligohydramnios and intrauterine growth restriction (IUGR), and we review the literature.
Chih-Ping Chen, Ming-Chao Huang, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Tzu-Yun Chuang, Dai-Dyi Town, Wayseen Wang   +7 more
doaj   +1 more source

Amniocentesis [PDF]

BMJ, 1964
B M, BENNETT, E, NAKAMURA
openaire   +2 more sources

First‐Trimester Bilateral Choanal Atresia as a Marker of a De Novo Pathogenic KMT2D Variant Associated With BCAHH Syndrome

Prenatal Diagnosis, EarlyView.
Patrik Šimják, Jan Král, Dagmar Rašková, Monika Koudová, David Stejskal   +4 more
wiley   +1 more source

The Recommendation Paradox: Perspectives on Genetic Testing in Huntington's Disease Families

Journal of Genetic Counseling, Volume 35, Issue 4, August 2026.
ABSTRACT Huntington's disease (HD) families face complex decisions about predictive genetic testing and reproductive options, including preimplantation genetic testing (PGT), and particularly PGT for Monogenic Disorders (PGT‐M). We examined attitudes toward genetic testing and reproductive options across affected groups within HD families (e.g., people
Noit Inbar, Achinoam Socher, Aya Bar David, Penina Ponger, Nurit Omer, Adi Reches, Yael Manor, Tanya Gurevich   +7 more
wiley   +1 more source

In Vivo Assessment of Placental Structure and Perfusion in Late‐Gestation Pregnancies and Their Association With Fetal Growth

NMR in Biomedicine, Volume 39, Issue 8, August 2026.
Multiparametric 3T MRI combining structural imaging and pCASL quantified placental structure and perfusion in late gestation. Mean placental‐blood‐flow (PBF) and arterial‐transit‐time (ATT) values were higher than previously reported at earlier gestational‐ages (GA).
Daphna Link‐Sourani, Netanell Avisdris, Xingfeng Shao, Dana Schonberger, Aviad Rabinowich, Bella Spector Fadida, Yair Wexler, Leo Joskowicz, Liat Ben Sira, Liran Hiersch, Danny J. J. Wang, Dafna Ben Bashat   +11 more
wiley   +1 more source

Prenatal Screening for Common Aneuploidy in Southeast Asian Countries: A Systematic Review of Challenges and Opportunities

Prenatal Diagnosis, Volume 46, Issue 9, Page 1393-1410, August 2026.
ABSTRACT Southeast Asian (SEA) countries face persistent challenges in equitable healthcare delivery. Given the high prevalence of aneuploidy, increasing use of advanced prenatal screening technologies, and challenges reported in other regions, this study aimed to identify and assess existing policies and guidelines as well as the enablers and barriers
Rapphon Sawaddisan, Lucinda Freeman, Erin Turbitt, Alison McEwen   +3 more
wiley   +1 more source

Absence of SARS-CoV-2 in Second-Trimester Amniotic Fluid During the SARS-CoV-2 Virus Pandemic

Women's Health Reports
Objective: To determine the presence or absence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in second-trimester amniotic fluid during the SARS-CoV-2 virus pandemic in patients undergoing genetic amniocentesis.
Poonam Samyal, Luis A. Bracero, Andrew Quinn, Ying Chan   +3 more
doaj   +1 more source

Performance of a Flexible Versus Rigid Fetoscope in the Simulated Management of Twin‐to‐Twin Transfusion Syndrome

Prenatal Diagnosis, Volume 46, Issue 9, Page 1472-1479, August 2026.
ABSTRACT Objective To assess the feasibility and operative performance of a flexible fetoscope (FF) compared with a rigid fetoscope (RF) in the simulated management of twin‐to‐twin transfusion syndrome (TTTS) with anterior placentation. Method A randomized, non‐blinded crossover trial was conducted during a national training session for fetal surgeons.
Emmanuel Rault, Jerome Massardier, Elsa Limouzin, Mona Massoud, Cyril Huissoud, Anthony Atallah   +5 more
wiley   +1 more source