Results 41 to 50 of about 21,946 (228)

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Chromosomal deletions detected at amniocentesis

, 2014
[[abstract]]OBJECTIVE: The aim of this study is to present the incidence, prenatal and postnatal findings, and modes of ascertainment in chromosomal deletions detected at amniocentesis.
Chen-Ju Lin(Chen-Ju Lin)*、陳持平(Chih-Ping Chen)、Shu-Chin Chi(Shu-Chin Chien)、Chen-Chi Lee(Chen-Chi Lee, )、Dai-Dyi Town(Dai-Dyi Town)、Wen-Lin Chen(Wen-Lin Chen)、L i-Feng Che(L i-Feng Chen)、Meng-Shan Le(Meng-Shan Lee)、,(Chen-Wen Pan,)、,(Ku-Chien Lin,)、Tze-Tien Yeh(Tze-Tien Yeh)、、、
core   +3 more sources

Reference values for interleukin‐6 in the amniotic fluid of asymptomatic pregnant women

Acta Obstetricia et Gynecologica Scandinavica, 2023
Introduction Nowadays, proinflammatory factors are considered to play an important role in the pathophysiology of threatened preterm labor or chorioamnionitis.
Ester delBarco, Clara Franco‐Jarava, Mireia Vargas, Nerea Maíz, Silvia Arevalo, Maria Ángeles Sánchez, Maria Teresa Avilés, Carlota Rodó, Manel Mendoza, Maria Goya, Manuel Hernández‐González, Elena Carreras   +11 more
doaj   +1 more source

Rethinking Delivery Timing in Prenatally Diagnosed Spinal Muscular Atrophy: A Case Report With 2‐Year Follow‐Up

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective We describe the clinical course and outcome of a prenatally diagnosed infant with spinal muscular atrophy (SMA) treated immediately after early‐term birth and highlight considerations regarding delivery timing and neonatal management. Methods This male infant had a family history of SMA type 1A.
Emilie Groulx‐Boivin, Olivier Fortin, Simon Thebault, Unain Ansari, Victoria Nixon, Ariane Belzile, Richard Brown, Jarred Garfinkle, Maryam Oskoui   +8 more
wiley   +1 more source

Fear before, during and after amniocentesis [PDF]

, 2006
Fear before, during and after amniocentesis The theme of this paper is "Fear before, during and after amniocentesis". I have chosen this theme as it is close to me. I studied to be midwife and I underwent amniocentesis myself.
Valová, Petra
core  

Unlocking insights: Validating a comprehensive model for predicting spontaneous preterm delivery and microbial invasion in women facing preterm labor

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective Preterm labor is a multifactorial syndrome with diverse etiologies such as infection, inflammation, uteroplacental dysfunction, stress, and immune dysregulation. Identifying women at high risk remains a challenge, and multivariate prediction models have been developed to enhance risk stratification.
Ester del Barco, Nerea Maiz, Clara Franco‐Jarava, Mireia Vargas, Silvia Arévalo, María A. Sánchez‐Durán, Carlota Rodó, Manel Mendoza, Marta Dalmau, Alba Casellas, Manuel Hernández‐González, Anna Suy, María Goya   +12 more
wiley   +1 more source

Prenatal screening and diagnostic strategies for fetal genetic abnormalities: Comparison of international clinical guidelines

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract This study compares recommendations from international clinical guidelines regarding prenatal screening and diagnostic testing for fetal genetic abnormalities, including the role of non‐invasive prenatal testing (NIPT), invasive diagnostic procedures, and advanced genomic technologies.
Geovanna Saboia Veras, João Renato Bennini   +1 more
wiley   +1 more source

Investigating the Complications of Transplacental Needle Passage in Amniocentesis

Journal of Mazandaran University of Medical Sciences, 2019
Background and purpose: Amniocentesis is the most commonly used method for diagnosis of aneuploid and other genetic disorders of the fetus. Cautious should be taken when entering the amniocentesis needle to avoid entering the placenta.
Fatemeh Tara, Somayeh Moeindarbari, Mahla Bakhtiari   +2 more
doaj  

Fetal Liver Volume and Morphology in Growth‐Restricted Fetuses and Their Association With Neonatal Morbidity: An MRI Study

Journal of Magnetic Resonance Imaging, EarlyView.
ABSTRACT Background Fetal growth restriction (FGR) may induce redistribution of the fetal circulation to preserve perfusion of vital organs. Reduced hepatic delivery of oxygen‐ and nutrient‐rich blood may cause volumetric and morphological remodeling.
Miriam Misochnik, Aaron Olender, Dana Schonberger, Yair Wexler, Ayala Zilberman, Sharon Vanetik, Daphna Link‐Sourani, Jacky Herzlich, Karina Krajden Haratz, Hadas Miremberg, Liran Hiersch, Liat Ben Sira, Leo Joskowicz, Dafna Ben Bashat, Aviad Rabinowich   +14 more
wiley   +1 more source

Fetal loss rates after mid-trimester amniocentesis

, 2010
Objective: Amniocentesis is an invasive cytogenic test traditionally associated with a 1/200 procedure–related pregnancy loss rate. Recent studies have questioned the validity of the traditionally stated rate.
Mehmet Ibrahim Harma, Muge Harma, Ülkü Bayar, Aykut Barut, Ilker Arikan   +4 more
core   +1 more source