Rapid Prenatal Diagnosis of Common Aneuploidies in Amniotic Fluid Using Quantitative Fluorescent Polymerase Chain Reaction

2008 ◽  
Vol 66 (2) ◽  
pp. 104-110 ◽  
Author(s):  
Huseyin Onay ◽  
Timur Ugurlu ◽  
Ayca Aykut ◽  
Sacide Pehlivan ◽  
Murat Inal ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Prenatal Diagnosis ◽  
Amniotic Fluid ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Fluorescent Polymerase Chain Reaction

scholarly journals Prenatal diagnosis of de novo small supernumerary marker chromosome 4q (4q11-q12): A case report

2021 ◽  
Author(s):  
Reza Mohammadi ◽  
Raheleh Taheri ◽  
Fatemeh Shahriyari ◽  
Farnaz Feiz ◽  
Zahra Mohammadi ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Prenatal Diagnosis ◽  
Array Cgh ◽  
De Novo ◽  
Karyotype Analysis ◽  
Marker Chromosome ◽  
Male Fetus ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Fluorescent Polymerase Chain Reaction

Background: Small supernumerary marker chromosomes (sSMCs) are chromosomal fragments with abnormal structures found in patients with fertility problems and developmental delay. They may be detected in amniotic cell karyotypes. sSMCs are categorized as hereditary or de novo. Here, we describe a case of prenatal de novo 4q11q12 sSMC and its molecular cytogenetic features which had no apparent phenotypic abnormality. Case: The fetus of a 36-yr-old pregnant woman was detected positive for Down’s syndrome (trisomy 21) at the 16th wk of gestation. Quantitative fluorescent polymerase chain reaction technique was applied for the rapid detection of numerical aneuploidy of chromosomes X, Y, 13, 18, and 21 microsatellites. Array comparative genomic hybridization (array CGH) technique was also conducted following the karyotype analysis of amniotic cells. The karyotype analysis was also done for the parents. Quantitative fluorescent polymerase chain reaction result revealed a male fetus with a normal chromosomal pattern, while the amniocentesis karyotype analysis identified a male fetus with a marker chromosome (47, XY, +mar), and the sSMC were existing in 100% of amniocyte metaphase spreads. The parents’ normal karyotypes indicated that the sSMC was de novo. Array CGH analysis revealed a 6.48-Mb duplication at 4q11q12. Eventually, the parents decided to terminate the pregnancy by legal abortion. Conclusion: Our study highlights the importance of the application of array CGH in combination with karyotype analysis for rapid and precise prenatal diagnosis of partial aneuploidy region.  Key words: Prenatal diagnosis, Array CGH, Chromosome 4, Chromosome markers.

Prenatal Diagnosis of Congenital Toxoplasmosis with a Polymerase-Chain-Reaction Test on Amniotic Fluid

1994 ◽  
Vol 331 (11) ◽  
pp. 695-699 ◽  
Author(s):  
Patrick Hohlfeld ◽  
Fernand Daffos ◽  
Jean-Marc Costa ◽  
Philippe Thulliez ◽  
Francois Forestier ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Prenatal Diagnosis ◽  
Amniotic Fluid ◽  
Congenital Toxoplasmosis ◽  
Polymerase Chain Reaction Test ◽  
Chain Reaction ◽  
Reaction Test ◽  
Polymerase Chain ◽  
Chain Reaction Test
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