Results 31 to 40 of about 21,946 (228)

Mosaic Trisomy 7 at Amniocentesis: Prenatal Diagnosis and Molecular Genetic Analyses

, 2011
Objective To present prenatal diagnosis and molecular genetic analyses of mosaic trisomy 7 Materials, Methods and Results A 38 year old primigravid woman underwent amniocentesis at 19 weeks of gestation because of her advanced maternal age Amniocentesis ...
陳持平;蘇怡寧;陳樹人;林炫沛;許瓊心;蔡輔仁;王道遠;吳佩臻;李貞姫;陳麗鳳;王偉信, CHEN, CHIH-PING;SU, YI-NING;CHERN, SCHU-RERN;LIN, SHUAN-PEI;HSU, CHYONG-HSIN;TSAI, FUU-JEN;WANG, TAO-YEUAN;WU, PEI-CHEN;LEE, CHEN-CHI;CHEN, LI-FENG;WANG, WAYSEEN   +1 more
core   +1 more source

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

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Reframing Trisomy 13 and 18 Care: Moving Beyond the Myth of “Incompatibility With Life” in a South African and Low‐and Middle‐Income Country Context

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13 (T13) and trisomy 18 (T18) have historically been described as “lethal” or “incompatible with life,” contributing to diagnosis‐based limitations of care. Contemporary evidence demonstrates greater heterogeneity in survival and outcomes than previously recognized, including among selected children receiving intensive care or cardiac ...
H. L. Malherbe, M. Araujo, L. Balimba, J. A. Joshi, P. Makhetha, M. Meiring, M. T. Mpe, D. Reddy, B. Shingwenyana, J. C. Carey   +9 more
wiley   +1 more source

Effect of pre-amniocentesis counseling on maternal pain and anxiety

, 2011
Aim: The aim of this study was to evaluate the levels of anticipated and perceived pain and anxiety in expectant mothers at the times of pre-counseling, post-counseling, and post-amniocentesis and to investigate the effect of pre-amniocentesis counseling
Balci, Osman, Acar, Ali, Alaa S. Mahmoud, Mehmet Cengiz Colakoglu, Osman Balci, Mahmoud, Alaa S., Ali Acar, Colakoglu, Mehmet Cengiz   +7 more
core   +2 more sources

Maternal Factors Modifying the Link Between Genetic Risk for Autism and Developmental Milestones

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Although common genetic liability—quantified through polygenic risk scores (PRS)—accounts for substantial variance in autism spectrum disorder (ASD) liability, how prenatal environmental exposures interact with genetic predisposition to shape developmental outcomes remains poorly understood. Using the data from Autism Genetic Resource Exchange
Liliana D'Alesio, Vishani Nimish Patel, McKenna Walsh, Erick Messias, Ping‐I Lin   +4 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

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

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