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 Common Aneuploidies Using Multiplex Quantitative Fluorescent Polymerase Chain Reaction

2004 ◽  
Vol 19 (6) ◽  
pp. 496-503 ◽  
Author(s):  
S. El Mouatassim ◽  
M. Becker ◽  
S. Kuzio ◽  
C. Ronsin ◽  
S. Gil ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Prenatal Diagnosis ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Fluorescent Polymerase Chain Reaction

scholarly journals Rapid Detection of Fetal Aneuploidies by Quantitative Fluorescent-Polymerase Chain Reaction for Prenatal Diagnosis in the Turkish Population

2012 ◽  
Vol 15 (1) ◽  
pp. 11-17 ◽  
Author(s):  
A Guzel ◽  
M Yilmaz ◽  
O Demirhan ◽  
A Pazarbasi ◽  
S Kocaturk-Sel ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Prenatal Diagnosis ◽  
Rapid Detection ◽  
Turkish Population ◽  
Chain Reaction ◽  
Str Markers ◽  
Conventional Cytogenetic Analysis ◽  
Polymerase Chain ◽  
Fluorescent Polymerase Chain Reaction ◽  
Fetal Aneuploidies

Rapid Detection of Fetal Aneuploidies by Quantitative Fluorescent-Polymerase Chain Reaction for Prenatal Diagnosis in the Turkish PopulationPrenatal diagnosis is testing for diseases or conditions in a fetus or embryo before it is born. It employs a variety of techniques to determine the health and condition of an unborn fetus. The main goal of this process is to perform prenatal diagnosis at the earliest possible stage of gestation. In this regard, quantitative fluorescent-polymerase chain reaction (QF-PCR), a novel technique that is fast and reliable, was employed to detect aneuploidies (13, 18, 21, X and Y) without the need of the time-consuming culturing process. The QF-PCR method can detect five different chromosome aneuploidies with 98.6% accuracy. In this study, 1874 amniotic fluid samples of pregnant subjects, who were referred to the Department of Medical Biology and Genetics, Adana, Turkey (molecular biology section), were analyzed with the QF-PCR technique by employing 27 short tandem repeat (STR) markers to detect chromosomes 13, 18, 21, X and Y aneuploidies. We detected 31 subjects (1.7%) with aneuploidies or euploidies out of the 1874 subjects. The average age of the pregnant subjects was 32 (range: 14-49). Abnormal karyotypes detected were as follows: 47, XX,+21 (19.4%, 6/31), 47, XY,+21 (48.4%, 15/31), 48, XXX,+21 (3.2%, 1/31), 69, XXX (3.2%, 1/31), 47, XY,+13 (3.2%, 1/31), 47, XXY (9.6%, 3/31), 47, XXX (9.6%, 3/31) and 45, X (3.2%, 1/31). Moreover, some STR markers were found to be more specific to the Turkish population. In conclusion, QF-PCR can be regarded as an alternative method of conventional cytogenetic analysis as it is a rapid and reliable method; however, in most cases it is required to be supported or validated with conventional cytogenetic karyotyping and some STR markers employed for QF-PCR can be more informative for a given population.

scholarly journals Quantitative Fluorescent Polymerase Chain Reaction for Prenatal Diagnosis and Its Application in Vietnam: A Literature Review

2021 ◽  
Author(s):  
Thuan Phan
Keyword(s):  
Polymerase Chain Reaction ◽  
Prenatal Diagnosis ◽  
Literature Review ◽  
Early Identification ◽  
Effective Means ◽  
Chromosome Anomaly ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Fluorescent Polymerase Chain Reaction ◽  
Huge Challenge

Early identification of fetal abnormalities is a huge challenge for modern obstetrics. Quantitative fluorescent polymerase chain reaction (QF-PCR) has quickly become an effective means of chromosome anomaly detection due to its advantages in terms of timing, manpower and accuracy. The QF-PCR results also make a significant change in clinicians’ attitude to some extent, assisting them providing parents with professional and valuable advice on pregnancy management. In this review, the advantages and drawbacks of QF-PCR will be explored. By reviewing studies published in Vietnamese Medical Journals, we conclude QF-PCR can become a potential screening test in the field of prenatal diagnosis.

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