Results 91 to 100 of about 15,755 (254)

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

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

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

Unexpected perinatal death caused by an occult MTM1 mutation: a case report

Frontiers in Medicine
BackgroundGenetic mutations can lead to miscarriages, perinatal deaths, and abnormalities in fetal development. Sometimes, the regular prenatal test cannot identify some rare diseases, but whole-exome sequencing can be performed.
Man-Man Zhu, Man-Man Zhu, Dong-Mei Li, Dong-Mei Li, Yi-Cheng Wu, Yi-Cheng Wu, Qiang Yao, Qiang Yao, Ming-Rong Qie, Ming-Rong Qie, Wei-Wei Sun, Wei-Wei Sun   +11 more
doaj   +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

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

Prenatal Screening Via cfDNA – Paired‐End Sequencing Utilizing Fragment Size Information Reduces the Screen Positive Rate for X Chromosome Aneuploidies

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal cfDNA screening has transformed care, yet it remains difficult to determine whether X aneuploidy signals originate from the patient or fetus, inflating screen positive and false positive rates. One potential solution is to incorporate fragment size data from paired‐end sequencing (PES).
Susan Hancock, Franchesca Liao, Theresa Boomer, Sung Kim, Eileen de Feo   +4 more
wiley   +1 more source

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

Prenatal Diagnosis, EarlyView.
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

The role of patient-reported experiences in disclosing genetic prenatal testing: Findings from a large-scale survey on pregnant women

European Journal of Obstetrics & Gynecology and Reproductive Biology: X
Introduction: Pregnant women can choose from different prenatal genetic tests throughout their maternity journey. We aim to investigate the clinical, societal, and economic determinants influencing the selection of different options (non-invasive ...
Amerigo Ferrari, Federico Pennestrì, Manila Bonciani, Giuseppe Banfi, Milena Vainieri, Rossella Tomaiuolo   +5 more
doaj   +1 more source

Impact of Fetoscopic Surgery on the Myometrium: Experimental Study in an Ovine Model of Myelomeningocele

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate uterine healing at delivery after fetoscopic myelomeningocele (MMC) closure in an ovine model. Methods This descriptive study was conducted in Romane ewes. Fetal MMC lesions were created after hysterotomy at 75 days of gestation.
Enora Parc, Eugénie Jolivet, Corentin Maillet, Yoann Athiel, Jean‐Marie Jouannic, Lucie Guilbaud   +5 more
wiley   +1 more source