Chrysanthy Bili

Children's Hospital Agia Sophia

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Catherine Metaxotou

Athens Medical Center

Lina Florentin

Hygeia Hospital

L. Florentin

Senologic Hellenic Society

Sotiris Youroukos

Children's Hospital Agia Sophia

Barbarigos Ioannis

General-Maternity District Hospital Helena Venizelou

H. Frysira

Tassis Konstantinos

LETO Maternity Hospital

Athanasiadis Apostolos

Aspasia Divane

University of Cambridge

Theodoropoulos Periklis

LETO Maternity Hospital

Cooperative Institutions

Children's Hospital Agia Sophia

Boston Children's Hospital

National and Kapodistrian University of Athens

Athens Medical Center

LETO Maternity Hospital

Hygeia Hospital

Senologic Hellenic Society

Athens University of Economics and Business

Athens State University

General-Maternity District Hospital Helena Venizelou

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Prenatal diagnosis of common aneuploidies using quantitative fluorescent PCR

Prenatal Diagnosis (2002)

Chrysanthy Bili Aspasia Divane Angela Apessos Tassis Konstantinos Athanasiadis Apostolos

Quantitative fluorescence-polymerase chain reaction (QF-PCR) has recently been used for the detection of common chromosomal aneuploidies in prenatal diagnosis. Here we describe our experience in prenatal diagnosis of 1100 samples.Extraction of DNA was performed from amniotic fluid, chorionic villus samples (CVS), fetal blood and fetal tissue samples, using a simple, rapid protocol. Fluorescent multiplex PCR products of single tandem repeats (STRs) located on chromosomes 13, 18, 21, X and Y were then analyzed on an automated laser fluorescent sequencer. All samples were analyzed with at least two polymorphic markers for chromosomes 13, 18 and 21 and one for the X chromosome. The amelogenin locus was used for sexing. Analysis was performed twice on affected samples. When miscellaneous results were obtained extra markers were used.We evaluated the usefulness of different markers in the Greek population. In a total of 1100 samples, 25 chromosome aberrations were identified, including trisomy 13, 18 and 21, XYY, triploidies 69,XXX and 69,XXY and one Turner mosaic. All results but three were consistent with conventional cytogenetic analysis. One mosaic was missed. Most bloodstained samples were successfully analyzed.Successful analysis of a large number of prenatal samples proves QF-PCR to be an efficient adjunct in routine prenatal diagnosis.

Sexing

Trisomy

Amelogenin

Chorionic villi

Multiplex

Buccal swab

10.1002/pd.301

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Citations (58)

Mapping dystrophin gene recombinants in Greek DMD/BMD families: low recombination frequencies in the STR region

Human Genetics (1995)

Lina Florentin Chrysanthy Bili Kiriaki Kekou Nicolaos Tripodis Ariadni Mavrou