Results 191 to 200 of about 146,711 (318)

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

Prenatal diagnosis of fetuses with ultrasound soft markers. [PDF]

BMC Pregnancy Childbirth
Jiang Q, Tan C, Yuan L, Aziz AUR, Yu H, Wang X.   +5 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

The Clinical Utility of Whole-Exome Sequencing in the Prenatal Diagnosis of Fetal Skeletal Dysplasia. [PDF]

Int J Womens Health
Mei Y, Li J, Zhang L, Wei X, Xu Q, Shen C, Qin Y, Zhong Q, Li Y.   +8 more
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

Prenatal diagnosis strategies and pregnancy outcomes in the Luohe region of China in the context of increasing maternal age. [PDF]

Sci Rep
Yang S, Li R, Gong Z, Xin S, He Y, Teng S, Gao Y, Fu X.   +7 more
europepmc   +1 more source

Sense of Coherence in the Perinatal Period: A Longitudinal Growth Mixture Modeling Analysis

Journal of Clinical Psychology, EarlyView.
ABSTRACT Objectives Previous studies have established that higher Sense of Coherence (SoC) predicts lower pregnancy‐specific distress, fewer delivery complications, and increased birth satisfaction. However, less is known about how SoC typically changes over pregnancy, birth, and postnatally and the risk factors and protective factors contributing to ...
Kelsey Perrykkad, Stuart Watson, Andrew J. Lewis, Marinus Van IJzendoorn, Megan Galbally   +4 more
wiley   +1 more source

Assessment of fetal endometrial thickness: a key to the prenatal diagnosis of ovarian cysts. [PDF]

Pediatr Radiol
Huynh MH, De Leon Benedetti L, Mathew L, Mohamed MK, Oliver ER, Debari SE, Gebb JS, Khalek N, Soni S, Fiorentino D, Adzick NS, Coleman BG.   +11 more
europepmc   +1 more source

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Novel compound heterozygous FAM20C variants cause Raine syndrome - retrospective prenatal diagnosis and literature review. [PDF]

Orphanet J Rare Dis
Lazarczyk E, Pilarska-Deltow M, Sowinska-Seidler A, Repczynska A, Drozniewska M, Jamsheer A, Zdrojewska A, Pasinska M, Haus O.   +8 more
europepmc   +1 more source