Results 71 to 80 of about 5,809 (168)

Prenatal diagnosis of mosaic trisomy 2 associated with abnormal maternal serum screening, oligohydramnios, intrauterine growth restriction, ventricular septal defect, preaxial polydactyly, and facial dysmorphism

Taiwanese Journal of Obstetrics & Gynecology, 2013
Objective: To present prenatal diagnosis of mosaic trisomy 2. Materials and Methods: A 29-year-old woman underwent amniocentesis at 17 weeks of gestation because of abnormal maternal serum screening, and the cytogenetic result was 47,XY,+2[8]/46,XY[22 ...
Chih-Ping Chen, Yi-Yung Chen, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Yu-Ting Chen, Chen-Chi Lee, Li-Feng Chen, Wayseen Wang   +8 more
doaj   +1 more source

Screening of Common Chromosomal Disorders in Iranian Women with Hydatidiform Mole using QF-PCR

Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk, 2016
Background: Hydatidiform Mole is a benign trophoblastic tumor is made of ectopic preg-nancy. Abnormalities in the number or structure of chromosomes are causes of Hydatidiform Mole common numerical disorders resulted from proliferating repetitive ...
Masoumeh Barari, Soyar Sari , Ahmad Ebrahimi   +2 more
doaj  

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 2

Taiwanese Journal of Obstetrics & Gynecology, 2012
Objective: To present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from ring chromosome 2 [r(2)]. Methods and Results: A 35-year-old woman underwent amniocentesis at
Chih-Ping Chen, Ming Chen, Schu-Rern Chern, Peih-Shan Wu, Shun-Ping Chang, Dong-Jay Lee, Yu-Ting Chen, Li-Feng Chen, Jun-Wei Su, Alan Hwa-Ruey Hsieh, Alex Hwa-Jiun Hsieh, Wayseen Wang   +11 more
doaj   +1 more source

A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21

Molecular Genetics & Genomic Medicine, 2020
Background Placental mosaicism is one of the major reasons for noninvasive prenatal testing (NIPT) discrepancy. Herein, we discovered a rare case of placenta with complex karyotypes that caused false‐positive and false‐negative results in noninvasive ...
Jin Li, Mingshui Xie, Fang Wang, Jianhong Ma, Jiafu Li, Chen Chen, Zhimin Li, Juan Wang, Yuanzhen Zhang, Yirong Li   +9 more
doaj   +1 more source

Prenatal Invasive Diagnosis with Quantitative Fluorescent PCR

Медицинский вестник Юга России, 2011
Purpose: To develop the method of prenatal invasive diagnosis and compare it abilities with traditional genetic cytological examination.Materials and Methods: There was conducted prenatal fetal invasive diagnosis of 366 pregnant women.
V. V. Avrutskaja, N. V. Kriventsova, R. A. Shokarev, V. S. Gimbut, S. Y. Kriger   +4 more
doaj  

Association between quantitative analyses of periodontal pathogens and the depth of periodontal pockets

Biotechnology & Biotechnological Equipment, 2020
The aim of this study was to investigate the association between expressions of five periodontal pathogens (Actinobacillus actinomycetemcomitans (Aa), Porphyromonas gingivalis (Pg), Tannerella forsythensis (Tf), Treponema denticola (Td) and Prevotella ...
Jianan He, Lyu Da, Yining Pan, Xuanping Tan, Zhitian Li, Feiyue Luo, Weidong Xie, Dayong Gu   +7 more
doaj   +1 more source

Diagnóstico Rápido de Aneuploidías por QF-PCR

Revista de Ciencia y Tecnología
El diagnóstico prenatal de aneuploidías cromosómicas, como el síndrome de Down (trisomía 21), el síndrome de Edwards (trisomía 18) y el síndrome de Patau (trisomía 13), es un aspecto fundamental de la atención médica materna y fetal. Estas condiciones genéticas pueden tener un impacto significativo en el desarrollo del feto y la salud del neonato ...
openaire   +1 more source

The timely diagnosis of 49, XXXXY with the combined detection of MLPA, karyotype, and QF-PCR in a newborn with multiple congenital malformations: a case report. [PDF]

Transl Pediatr, 2023
Tian B, Chen L, Wang W, Tang Y, Yu D, Zhou Y, Wang G, Xia Y, Zhu C.   +8 more
europepmc   +1 more source

Cytogenetic Analysis of Sporadic First-Trimester Miscarriage Specimens Using Karyotyping and QF-PCR: A Retrospective Romanian Cohort Study. [PDF]

Genes (Basel), 2022
Popescu-Hobeanu G, Riza AL, Streață I, Tudorache Ș, Comănescu A, Tănase F, Drăgușin RC, Pascu C, Dijmărescu AL, Cara ML, Dorobanțu Ș, Petre-Mandache B, Cucu M, Sosoi SS, Ioana M, Iliescu D, Burada F.   +16 more
europepmc   +1 more source

Combined diagnosis of QF-PCR and CNV-Seq in fetal chromosomal abnormalities: A new perspective on prenatal diagnosis. [PDF]

J Clin Lab Anal, 2022
Qiao J, Yuan J, Hu W, Li Q, Fang H, Xu Y, Dai Y.   +6 more
europepmc   +1 more source