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OBJECTIVE We have developed a quantitative fluorescence multiplex polymerase chain reaction assay for the rapid detection of sex and aneuploidies involving chromosomes 21, 18, and 13. METHODS Samples of deoxyribonucleic acid (n = 85) extracted from amniotic fluid, fetal tissues, and blood were investigated by multiplex polymerase chain reaction amplification of polymorphic small tandem repeat markers specific for chromosomes 21, 18, 13, and X. RESULTS Quantitative analysis of the polymerase chain reaction products allowed us to distinguish between normal samples and samples with autosomal trisomies while sexing was performed simultaneously. From 85 samples only three produced unsatisfactory results with one of the two chromosome 13-specific markers. In these three cases the amplification of the other chromosome 13 marker always resulted in a correct normal pattern. CONCLUSIONS Quantitative fluorescence multiplex polymerase chain reaction is a reliable and rapid method that allows prenatal diagnosis of the major numeric chromosomal abnormalities to be performed within 24 hours.
B Pertl, and
S Kopp, and
P M Kroisel, and
M Häusler, and
J Sherlock, and
R Winter, and
M Adinolfi
April 2014,
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics,
B Pertl, and
S Kopp, and
P M Kroisel, and
M Häusler, and
J Sherlock, and
R Winter, and
M Adinolfi
June 2012,
Balkan journal of medical genetics : BJMG,
B Pertl, and
S Kopp, and
P M Kroisel, and
M Häusler, and
J Sherlock, and
R Winter, and
M Adinolfi
February 2011,
Genetics in medicine : official journal of the American College of Medical Genetics,
B Pertl, and
S Kopp, and
P M Kroisel, and
M Häusler, and
J Sherlock, and
R Winter, and
M Adinolfi
September 2013,
Genetic testing and molecular biomarkers,
B Pertl, and
S Kopp, and
P M Kroisel, and
M Häusler, and
J Sherlock, and
R Winter, and
M Adinolfi
May 1998,
American journal of obstetrics and gynecology,
B Pertl, and
S Kopp, and
P M Kroisel, and
M Häusler, and
J Sherlock, and
R Winter, and
M Adinolfi
January 2008,
Gynecologic and obstetric investigation,
B Pertl, and
S Kopp, and
P M Kroisel, and
M Häusler, and
J Sherlock, and
R Winter, and
M Adinolfi
October 2001,
Molecular human reproduction,
B Pertl, and
S Kopp, and
P M Kroisel, and
M Häusler, and
J Sherlock, and
R Winter, and
M Adinolfi
April 2010,
Singapore medical journal,
B Pertl, and
S Kopp, and
P M Kroisel, and
M Häusler, and
J Sherlock, and
R Winter, and
M Adinolfi
January 1999,
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi,
B Pertl, and
S Kopp, and
P M Kroisel, and
M Häusler, and
J Sherlock, and
R Winter, and
M Adinolfi
January 2004,
Fetal diagnosis and therapy,
