Results 21 to 30 of about 5,720 (89)

Rapid confirmation of trisomy 13 of maternal origin by QF-PCR following postmortem tissue cell culture failure in a pregnancy with trisomy 13 at amniocentesis and fetal postaxial polydactyly and facial cleft

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2022
Objective: We present rapid confirmation of trisomy 13 of maternal origin by quantitative fluorescent polymerase chain reaction (QF-PCR) following postmortem tissue cell culture failure in a pregnancy with trisomy 13 at amniocentesis and fetal postaxial ...
Chih-Ping Chen   +7 more
doaj   +1 more source

Application of immunofluorescence assay and nested polymerase chain reaction for query fever diagnosis in animal handlers of Puducherry, South India, and phylogenetic analysis based on IS1111 repetitive gene element [PDF]

open access: yesVeterinary World, 2019
Background and Aim: Diagnosis of query fever (QF) is mostly done on the basis of serological/molecular tests, due to the stringent requirement of biosafety level-3 containment facilities for isolating Coxiella burnetii in culture.
Jothimani Pradeep   +5 more
doaj   +1 more source

Rapid diagnosis of trisomy 18 of maternal origin by quantitative fluorescent polymerase chain reaction analysis following tissue culture failure for conventional cytogenetic analysis in a fetus with holoprosencephaly, ventricular septal defect, arthrogryposis of bilateral wrists and aplasia of the thumbs

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2021
Objective: We present rapid diagnosis of trisomy 18 of maternal origin by quantitative fluorescent polymerase chain reaction (QF-PCR) analysis following tissue culture failure for conventional cytogenetic analysis in a fetus with holoprosencephaly (HPE),
Chih-Ping Chen   +5 more
doaj   +1 more source

Application of quantitative fluorescent polymerase chain reaction analysis for the rapid confirmation of trisomy 13 of maternal origin in a pregnancy with fetal holoprosencephaly, cyclopia, polydactyly, omphalocele and cell culture failure

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2022
Objective: We present the application of quantitative fluorescent polymerase chain reaction (QF-PCR) for the rapid confirmation of trisomy 13 of maternal origin in a pregnancy with fetal holoprosencephaly (HPE), cyclopia, polydactyly, omphalocele and ...
Chih-Ping Chen   +6 more
doaj   +1 more source

Inconsistency between non-invasive prenatal testing (NIPT) and conventional prenatal diagnosis due to confined placental and fetal mosaicism: Two case reports

open access: yesFrontiers in Medicine, 2022
We aimed to identify the causes of inconsistent results between non-invasive prenatal testing (NIPT) and invasive testing methods for trisomy 21. In the first case, NIPT was performed at 11 weeks of pregnancy, and the result showed a high risk of trisomy
Kyung Min Kang   +13 more
doaj   +1 more source

Two Reliable Methodical Approaches for Non-Invasive RHD Genotyping of a Fetus from Maternal Plasma

open access: yesDiagnostics, 2020
Noninvasive fetal RHD genotyping is an important tool for predicting RhD incompatibility between a pregnant woman and a fetus. This study aimed to assess a methodological approach other than the commonly used one for noninvasive fetal RHD genotyping on a
Jana Bohmova   +10 more
doaj   +1 more source

Frequency of Chromosomal Abnormalities in Products of Conception [PDF]

open access: yesRevista Brasileira de Ginecologia e Obstetrícia, 2017
Purpose To describe the frequencies of chromosomal abnormalities found in abortion material, and to observe its correlation to maternal age. Methods A retrospective study was conducted based on data obtained from the databank of a medical genetics ...
Thaís Mesquita Alves Teles   +6 more
doaj   +1 more source

Importance of QF-PCR method in aborted embryos in comparison with other common relative determination aneuploidies methods

open access: yesJournal of Current Oncology and Medical Sciences, 2021
One of the most important method in cytogenetic in order to diagnose the chromosomal abnormalities, is QF-PCR (Quantitative fluorescent polymerase chain reaction).In this way, QF-PCR can be employed in diagnosing the chromosome duplication number by ...
Kosar Babaei   +2 more
doaj  

Comparison of QF-PCR and FISH for Aneuploidy Detection in Prenatal Diagnosis [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2019
Introduction: Among all chromosomes (46) in the human genome, particular significance has been given to chromosomes 13, 18, 21, X and Y. This is primarily because of aneuploidy in these chromosomes that result in viable pregnancies with congenital ...
Sandip C Shah   +7 more
doaj   +1 more source

Monozygotic twins discordant for low-level mosaic trisomy 17 at amniocentesis in a pregnancy with a favorable outcome and a literature review of heterokaryotypic monozygotic twins at amniocentesis

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2020
Objective: We present a set of twins discordant for low-level mosaic trisomy 17 at amniocentesis, and we review the literature of heterokaryotypic monozygotic twins at amniocentesis.
Chih-Ping Chen   +7 more
doaj   +1 more source

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