Results 181 to 190 of about 158,846 (218)

In Silico Fragment Size Selection for Enhanced Fetal Fraction and Abnormality Origin Discernment Using Pair‐End Sequencing of Maternal Plasma DNA

Journal of Clinical Laboratory Analysis, EarlyView.
This study presents a new bioinformatics pipeline for noninvasive prenatal testing (NIPT) that filters DNA fragments to significantly improve the fetal DNA fraction. This enhanced method successfully analyzed samples previously rejected for low fetal fraction and could distinguish between fetal and maternal chromosomal abnormalities.
Lihui Yang, Jiutong Zhang, Ji Zhang, Qiujie Jin, Yating Wang, Qiuhua Wu, Fengrui Shi, Rui Wang, Yunping Liu, Na Cai, Xiaobin Wang, Rong Qiang   +11 more
wiley   +1 more source

Prenatal diagnosis – where do we go from here? [PDF]

Med Genet
Fauth C, Verheyen S.
europepmc   +1 more source

Delivery Routes and Anesthesia Affect Cord Blood NGF, BDNF, and Neonatal Outcomes

Journal of Clinical Laboratory Analysis, EarlyView.
Nerve growth factor (NGF) and brain‐derived neurotrophin (BDNF) play a role in brain maturation. Cord blood values do not differ between vaginal delivery and CS cases. In CS cases with spinal anesthesia, high BDNF and NGF values were associated with high cord blood pH and APGAR scores.
Şükran Doğru, Huriye Ezveci, Fikriye Karanfil Yaman, Pelin Bahçeci, Zeynep Şenol, İbrahim Kılınç, Kazım Gezginç   +6 more
wiley   +1 more source

Antenatal education for labour and postpartum pain: A scoping review of content, delivery approaches, evidence gaps, and lived experiences. [PDF]

PLoS One
Sloyan E, Leddy E, Clark C, Dufour S, Harper R, Dunford A, Elma Ö.   +6 more
europepmc   +1 more source

Performance Evaluation of a Premier Resolution HPLC System for Detecting Hemoglobin Constant Spring, Hemoglobin Paksé, and Coexisting α‐ and β‐Thalassemia Mutations

Journal of Clinical Laboratory Analysis, EarlyView.
This study compared Premier Resolution HPLC with Capillary Electrophoresis for detecting HbCS/Hb Paksé variants and coexisting thalassemia mutations. Premier Resolution HPLC demonstrated superior performance with 50% fewer false negative cases (11 vs. 22) compared to Capillary Electrophoresis, particularly in heterozygous cases.
Surada Satthakarn, Wibhasiri Srisuwan, Sitthichai Panyasai   +2 more
wiley   +1 more source

Environmental and Prenatal Exposure to Persistent Organic Pollutants and the Risk of Asthma and Respiratory Outcomes Across the Lifespan: A Review of Emerging Epidemiological Evidence and Mechanisms. [PDF]

Cureus
Vittorakis E, Vittorakis E, Kastanakis SG.   +2 more
europepmc   +1 more source

Beta‐Thalassemia in Spain: Results From the National Thalassemia Registry and Molecular Analysis of Patients With Transfusion‐Dependent Thalassemia

Journal of Clinical Laboratory Analysis, EarlyView.
This nationwide registry‐based study describes the clinical and molecular characteristics of 78 patients with transfusion‐dependent beta‐thalassemia in Spain. Comprehensive genetic analysis revealed marked molecular heterogeneity, with 24 HBB mutations identified and a predominance of β0 genotypes, alongside generally effective transfusion and iron ...
Ana Villegas, Paloma Ropero, Fernando Ataulfo González, Marta Morado, María Menor, Silvia de la Iglesia, Montserrat López‐Rubio, Eduardo José Salido, Mariola Abío, María Leonor Senent, Valle Recasens, José Manuel Vagace, Cristina Fonte, Jesús María Hernández‐Rivas, José María Raya, Pablo Ríos, Valeria Luciana Peri, Keneth A. Herrera, María Concepción Tenorio, Laura Lo Riso, Juan Tena, María Angustias Molina, Miriam Vara, Isabel Rodríguez, Pilar Ricard, Miguel Gómez, Oana Popa Dusacovschi, Julia María Vidán, Jorge Groiss, Óscar Ferre, Irene Orbe, Rosa María López, Nazaret Ugalde, Manuela Inés Hidalgo, Cristina Hinojosa, Ana Isabel Rodríguez, Esther Herrera, María Josefa Murúzabal, María del Carmen Hernández, Josefa Esperanza Marco, Celina Benavente, Grupo Español de Eritropatología   +41 more
wiley   +1 more source

Prenatal training module (PTM) with newborn simulation model to enhance primipara mother's knowledge and skill on newborn care in Lower-Middle-Income Setting: A quasi-experimental study. [PDF]

F1000Res
C K, Yn S, U M.
europepmc   +1 more source

Resolving a Complex Neonatal Phenotype by Rapid Trio Whole‐Genome Sequencing: A De Novo 11q14.3–q22.3 Deletion and a Splicing‐Altering Synonymous ANK1 Variant

Journal of Clinical Laboratory Analysis, EarlyView.
Clinical utility of trio WGS and time metrics in a neonate with congenital anomalies and hemolytic anemia. ABSTRACT Background Neonates with complex and evolving phenotypes often lack sufficiently specific clinical features to guide targeted genetic testing.
Hyun‐Woo Lee, Ja‐Hyun Jang, Beom Hee Lee, Hee‐Jeong Youk, Eun Sun Kim, Kee Hyun Cho, Yun Sil Chang, Heui Seung Jo, Mi‐Ae Jang   +8 more
wiley   +1 more source

Cardiac Function in Fetuses with Congenital Diaphragmatic Hernia (CDH) Before and After Fetoscopic Endoluminal Tracheal Occlusion (FETO)-A Systematic Review. [PDF]

Life (Basel)
Piotrkowicz E, Kosiński P.
europepmc   +1 more source