A Large-Scale Validation for QF-PCR Aneuploidy Testing in Korean

다국어 초록 (Multilingual Abstract)

The quantitative fluorescent PCR (QF-PCR) assay for prenatal diagnosis of common
chromosome aneuploidies introduced during the last few years. We report the first assessment
of QF-PCR aneuploidy testing performed on a large Korean population. Blind prospective
study was performed in 3700 amniotic fluid samples. All samples were analyzed by QF-PCR
using with four STR markers located on chromosome 21 (D21S1435/D21S11/D21S1411/
D21S1412) and subsequently performed by conventional cytogenetic analysis. Trisomy 21 was
identified in 35 samples. The informative rate for at least two STR markers was 97.3%. The
uninformative rate by maternal cell contamination (MCC) and inconclusive results were 0.8%,
1.9% respectively. Rare polymorphic STR duplication and somatic microsatellite mutation
were detected respectively. There were no false-positive or false-negative results. QF-PCR for
the rapid identification of fetus with trisomy 21 is a reliable, accurate, and speedy technique.

다국어 초록 (Multilingual Abstract)

The quantitative fluorescent PCR (QF-PCR) assay for prenatal diagnosis of common
chromosome aneuploidies introduced during the last few years. We report the first assessment
of QF-PCR aneuploidy testing performed on a large Korean population. Blind prospective
study was performed in 3700 amniotic fluid samples. All samples were analyzed by QF-PCR
using with four STR markers located on chromosome 21 (D21S1435/D21S11/D21S1411/
D21S1412) and subsequently performed by conventional cytogenetic analysis. Trisomy 21 was
identified in 35 samples. The informative rate for at least two STR markers was 97.3%. The
uninformative rate by maternal cell contamination (MCC) and inconclusive results were 0.8%,
1.9% respectively. Rare polymorphic STR duplication and somatic microsatellite mutation
were detected respectively. There were no false-positive or false-negative results. QF-PCR for
the rapid identification of fetus with trisomy 21 is a reliable, accurate, and speedy technique.

참고문헌 (Reference)

1 Pertl B, "Rapid detection of trisomies 21 and 18 and sexing by quantitative fluorescent multiplex PCR" 98 : 55-59, 1996

2 Adinolfi M, "Rapid detection of aneuploidies by microsatellite and the quantitative fluorescent polymerase chain reaction" 17 : 1299-1311, 1997

3 Lee Moon Hee, "Rapid Prenatal Diagnosis of Down Syndrome Using Quantitative Fluorescent PCR in Uncultured Amniocytes" 대한의학회 19 (19): 341-344, 2004

4 Pertl B, "Quantitative fluorescence polymerase chain reaction for the rapid prenatal detection of common aneuploidies and fetal sex" 177 : 899-906, 1997

5 Leung WC, "Prenatal diagnosis by rapid aneuploidy detection and karyotyping: a prospective study of the role of ultrasound in 1589 second-trimester amniocenteses" 24 : 790-795, 2004

6 Mann K, "In vivo somatic microsatellite mutations identified in nonmalignant human tissue" 114 : 110-114, 2003

7 Mansfield ES, "Diagnosis of Down syndrome and other aneuploides using quantitative polymerase chain reaction and small tandem repeat polymorphisms" 2 : 43-50, 1993

8 Mann K, "Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis" 358 : 1057-1061, 2001

9 Schmidt W, "Detection of aneuploidy in chromosomes X, Y, 13, 18 and 21 by QF-PCR in 662 selected pregnancies at risk" 6 : 855-860, 2000

10 Levett LJ, "A large-scale evaluation of amnio-PCR for the rapid prenatal diagnosis of fetal trisomy" 17 : 115-118, 2001