Results 81 to 90 of about 44,278 (289)

A unique case of prenatal diagnosis of vascular Ehlers‐Danlos syndrome

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract We present a rare instance of prenatal diagnosis of vEDS without a family history. The suspicion of a genetic syndrome arose from an incidental ultrasound finding of a facial anomaly—previously associated with vEDS in adulthood but never described prenatally.
Emma Bertucci, Sofia Ceffa, Sartor Giovanna, Maria Gnazzo, Antonio Novelli, Antonio La Marca   +5 more
wiley   +1 more source

Cytogenetic follow-up by karyotyping and fluorescence in situ hybridization: implications for monitoring patients with myelodysplastic syndrome and deletion 5q treated with lenalidomide

Haematologica, 2011
In patients with low and intermediate risk myelodysplastic syndrome and deletion 5q (del(5q)) treated with lenalidomide, monitoring of cytogenetic response is mandatory, since patients without cytogenetic response have a significantly increased risk of ...
Gudrun Göhring, Aristoteles Giagounidis, Guntram Büsche, Winfried Hofmann, Hans Heinrich Kreipe, Pierre Fenaux, Eva Hellström-Lindberg, Brigitte Schlegelberger   +7 more
doaj   +1 more source

False Positive or False Negative—An Interesting Case in Prenatal Diagnostic Laboratory

Journal of Clinical Laboratory Analysis, EarlyView.
A prenatal case in which discordant results were identified among SNP‐Array, PNBoBs, conventional karyotyping, and FISH, highlighting the importance of recognizing the limitations of various testing techniques for clinicians to avoid misdiagnosis and missed diagnosis.
Pingping Zhang, Yanmei Sun, Haishen Tian, Xuedong Shi, Limin Rong, Yali Li   +5 more
wiley   +1 more source

Karyotype analysis of the acute fibrosarcoma from chickens infected with subgroup J avian leukosis virus associated with v-srconcogene [PDF]

, 2016
Xuan Dong, Sidi Ju, Junxia Chen, Fanfeng Meng, Peng Sun, Yang Li, Xin Wang, Yixin Wang, Juan Liu, Shuang Chang, Peng Zhao, Zhizhong Cui   +11 more
openalex   +1 more source

Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf–Yang Syndrome and the Importance of Paternal Allele Confirmation

Journal of Clinical Laboratory Analysis, EarlyView.
This study reports a de novo MAGEL2 pathogenic variant in a patient with Schaaf–Yang syndrome, confirmed through methylation‐sensitive analysis. Combining genomic sequencing with methylation assays helps accurately determine the parental origin of MAGEL2 mutations.
Youn‐Ji Hong, Misun Yang, Hyeon Jeong Kwon, Jooyoung Cha, Ja‐Hyun Jang, Sung Eun Wang, Eun Sun Lee, Mi‐Ae Jang   +7 more
wiley   +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

Chromosomal karyotype analysis of ‘four seasons shuidong sweet crisp’ mustard [PDF]

, 2019
Zejing Liu, Xue Xia, Zhen Jin, Yuankuan He, Rui Wu, Fen Zhang, Bo Sun   +6 more
openalex   +1 more source

Efficacy of Fetal Ear Length as a Prenatal Marker of Chromosomal Anomalies: A Prospective, Multicenter Cohort Study in a Southern European Population

Journal of Clinical Ultrasound, EarlyView.
Fetal ear length (FEL) correlates with gestational age and may help detect chromosomal anomalies. This study developed a nomogram for a Southern European population, showing high measurement reliability. While FEL ≤ 5th percentile increased anomaly risk, its moderate sensitivity and specificity limit clinical utility.
Elisabet Baldrich, Montse Comas, Alicia Maldonado, Marcos Blasco, Josep‐Maria Manresa‐Domínguez, Maria Iniguez‐Cruz, Antoni Borrell   +6 more
wiley   +1 more source

Comparison of Three Different Staging Systems Capable of Predicting the Severity of Congenital Lower Urinary Tract Obstruction (LUTO) and Its Prognosis

Journal of Clinical Ultrasound, EarlyView.
The Ruano's proposed prenatal staging system for LUTO seems to offer a more comprehensive stratification of different severities of fetal LUTO as well as a guidance for potential prenatal therapy based on four stages. ABSTRACT Lower urinary tract obstruction (LUTO) is a rare but severe fetal condition associated with significant morbidity and long‐term
Ugo Maria Pierucci, Irene Paraboschi, Matthieu Peycelon, Chryso P. Katsoufis, Alireza Alam, Gabriele Tonni, Mark D. Kilby, Gloria Pelizzo, Rodrigo Ruano   +8 more
wiley   +1 more source

Fetal karyotyping in adolescent pregnancies: a population-based cohort study on outcomes of invasive prenatal testing

Frontiers in Genetics
BackgroundAdolescent pregnancies present unique challenges in prenatal diagnostics, yet data on the prevalence and types of chromosomal abnormalities in this population remain limited.ObjectiveThis study aimed to assess the prevalence and spectrum of ...
Jakub Staniczek, Jakub Staniczek, Jakub Staniczek, Maisa Manasar-Dyrbuś, Maisa Manasar-Dyrbuś, Maisa Manasar-Dyrbuś, Patrycja Sodowska, Krzysztof Sodowski, Krzysztof Sodowski, Agata Włoch, Agata Włoch, Agata Włoch, Bartosz Czuba, Wojciech Cnota, Monika Paul-Samojedny, Monika Paul-Samojedny, Agnieszka Kania, Henryka Sodowska, Henryka Sodowska, Magda Rybak-Krzyszkowska, Adrianna Kondracka, Rafał Stojko, Rafał Stojko, Agnieszka Drosdzol-Cop, Agnieszka Drosdzol-Cop   +24 more
doaj   +1 more source