Results 121 to 130 of about 17,532 (272)

Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum, Catherine Lee, Tippi MacKenzie, Billie Lianoglou, Agnieszka Czechowicz   +4 more
wiley   +1 more source

CRISPR/Cas-Based Prenatal Screening for Aneuploidy: Challenges and Opportunities for Early Diagnosis

Medicina
Aneuploidy is increasingly recognized globally as a common cause of miscarriage among expectant mothers. The existing prenatal screening techniques for detecting aneuploidy have several limitations.
Irisappan Ganesh, Ilangovan Karthiga, Manoranjani Murugan, Kumar Rangarajalu, Vishnu Bhat Ballambattu, Sambandam Ravikumar   +5 more
doaj   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Central Nervous System Abnormalities

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives This study demonstrates the central nervous system (CNS) abnormalities detected using fetal post‐mortem micro‐focus computed tomography (Micro‐CT), independent of whether the abnormality contributed to the main diagnosis or cause of death.
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source

Evaluating the Utility of RNAseq in Prenatal Diagnostics: Expression Profiles of Cultured Chorionic Villus and Amniotic Fluid Samples

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid (cAF) samples. Methods We performed
Maria C. Vladoiu, Sen Zhao, Roni Zemet, Christian M. Parobek, Jefferson Cruz Sinson, Stacy Tankersley, Ignatia B. Van den Veyver, Pengfei Liu   +7 more
wiley   +1 more source

Clinical strategy study on prenatal screening and diagnostic model for Down syndrome

Scientific Reports
Exploring efficient and easily implementable prenatal screening strategies aims at birth defect prevention and control. However, there have been limited economic evaluations of non-invasive prenatal screening (NIPS) strategies in China.
Wei Luo, Sha Liu, Bin He, Daiwen Han, Lixing Yuan, Kai Zhao, Jun Tang, Ling Pang, Fene Zou, Jianlong Liu, Hongqian Liu, Ting Bai, Xiaosha Jing, Tianyu Xia, Cechuan Deng, Yunyun Liu, Jing Cheng, Xiang Wei, Lingling Xing, Yuan Luo, Quanfang Zhou, Qian Zhu, Shanling Liu   +22 more
doaj   +1 more source

In Utero HSC Transplantation for Sickle Cell Disease: A Potential Therapeutic Approach That Overcomes Complications of Current Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Sickle cell disease (SCD) affects millions worldwide but has limited treatment options, most of which carry significant side effects. At present, the only curative treatment for SCD is allogeneic or gene‐modified autologous hematopoietic stem cell (HSC) transplantation (Tx).
Oluwaseun O. Babatunde, Madeleine G. Bibby, Anthony Atala, Graça Almeida‐Porada, Christopher D. Porada   +4 more
wiley   +1 more source

Rapid non-invasive prenatal screening test for trisomy 21 based on digital droplet PCR. [PDF]

Sci Rep, 2023
Laššáková S, Šenkyřík P, Pazourková E, Hořínek A, Calda P, Břešťák M, Světnicová K, Neužil P, Korabečná M.   +8 more
europepmc   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Evaluation of the clinical effects of non-invasive prenatal screening for diseases associated with aneuploidy and copy number variation. [PDF]

Mol Genet Genomic Med, 2023
Zhu S, Jia C, Hao S, Zhang Q, He J, Wang X, Lin P, Guo Y, Li Y, Feng X.   +9 more
europepmc   +1 more source

The Utilisation of Genetic Counselling Services Amongst Prenatal Healthcare Providers in Gauteng, South Africa

Prenatal Diagnosis, EarlyView.
ABSTRACT Introduction Congenital anomalies and genetic disorders contribute substantially to perinatal morbidity and mortality, particularly in low‐ and middle‐income countries. Prenatal healthcare providers play a key role in identifying affected pregnancies and referring to patients for genetic counselling; however, referral practices remain ...
Megan Duvenhage, Katryn Fourie, Monica Araujo   +2 more
wiley   +1 more source