Results 21 to 30 of about 15,249 (194)

Intra-amniotic sildenafil treatment improves lung blood flow and pulmonary hypertension in congenital diaphragmatic hernia rats

Frontiers in Bioengineering and Biotechnology, 2023
Pulmonary hypertension associated with congenital diaphragmatic hernia (CDH) is a critical factor in determining prognosis. We propose that intra-amniotic sildenafil administration is an effective prenatal therapy for CDH-induced pulmonary hypertension ...
Shiho Yoshida, Alexander M. Kreger, George K. Gittes   +2 more
doaj   +1 more source

Does chorionic villus sampling increase the risk of preeclampsia or gestational hypertension?

International Journal of Preventive Medicine, 2019
Background: Chorionic villus sampling (CVS) and amniocentesis are two methods for prenatal diagnosis. The goal of this study was to compare amniocentesis and CVS-related complications in a large sample of Iranian women.
Mahboobeh Shirazi, Maryam Rabiei, Fatemeh Rahimi, Shirin Niroomanesh, Fateme Golshahi, Mitra Eftekhar Yazdi   +5 more
doaj   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

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

Analysis of the results of amniocentesis performed at the University clinical centre of the Republic of Srpska [PDF]

Scripta Medica, 2017
Introduction: Due to its reliability and relatively low risk, amniocentesis is the most widely used method of prenatal diagnostics, primarily for diagnostics of chromosomal aberrations.
Marić Nina, Petrović-Tepić Snežana, Predojević-Samardžić Jelica, Ljuboja Olivera   +3 more
doaj  

Prenatal diagnosis of mosaicism for trisomy 7 in a single colony at amniocentesis in a pregnancy with a favorable outcome

Taiwanese Journal of Obstetrics & Gynecology, 2019
Objective: We present prenatal diagnosis of mosaicism for trisomy 7 in a single colony at amniocentesis with a favorable outcome. Case report: A 40-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age ...
Chih-Ping Chen, Fang-Yu Hung, Schu-Rern Chern, Shin-Wen Chen, Fang-Tzu Wu, Dai-Dyi Town, Wayseen Wang   +6 more
doaj   +1 more source

Maternal‐Fetal Administration of Risdiplam Partially Rescues the SMNΔ7 Mouse Model of Spinal Muscular Atrophy

Annals of Neurology, EarlyView.
Objective Spinal muscular atrophy (SMA) is caused by deletions or mutations in the survival motor neuron 1 (SMN1) gene and subsequent reduction in the expression of survival motor neuron (SMN) protein. The disease is characterized by degeneration of α motor neurons and subsequent muscle atrophy.
Emma R. Sutton, Ariane Beauvais, Rebecca Yaworski, Hugh J. McMillan, Rashmi Kothary   +4 more
wiley   +1 more source

Acute kidney injury, secondary to valacyclovir use during pregnancy for the prevention of fetal cytomegalovirus infection

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract High dose valacyclovir treatment of pregnant women has become a common treatment for primary CMV infection, to prevent vertical transmission to the fetus. We present a case of a healthy young pregnant female with primary CMV infection during the first trimester who was diagnosed with acute kidney injury secondary to valacyclovir treatment ...
Jason Brafman, Yechiel Schlesinger, Moshe Barg, Shmuel Benenson   +3 more
wiley   +1 more source

Cytomegalovirus-Specific Hyperimmune Immunoglobulin Administration for Secondary Prevention after First-Trimester Maternal Primary Infection: A 13-Year Single-Center Cohort Study

Viruses
Primary cytomegalovirus infection during pregnancy has a high risk of vertical transmission, with severe fetal sequelae mainly associated with first-trimester infections.
Emmanouil Karofylakis, Konstantinos Thomas, Dimitra Kavatha, Lamprini Galani, Sotirios Tsiodras, Helen Giamarellou, Vassiliki Papaevangelou, Anastasia Antoniadou   +7 more
doaj   +1 more source

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