Prenatal diagnosis of common aneuploidies using quantitative fluorescent PCR

• Published in: Prenatal diagnosis 2002-05, Vol.22 (5), p.360-365
• Main Authors: Bili, Chrysanthy, Divane, Aspasia, Apessos, Angela, Konstantinos, Tassis, Apostolos, Athanasiadis, Ioannis, Barbarigos, Periklis, Theodoropoulos, Florentin, Lina
• Format: Article
• Language: English
• Subjects: Adult; Amniotic Fluid - chemistry; Aneuploidy; Biological and medical sciences; Chorionic Villi - chemistry; Chromosome Disorders - diagnosis; Chromosome Disorders - genetics; Cytogenetic Analysis; DNA - analysis; Female; Fetal Blood - chemistry; Fetus - chemistry; Fluorescence; Genetic Markers; Gestational Age; Greece; Gynecology. Andrology. Obstetrics; Humans; Management. Prenatal diagnosis; Medical sciences; Polymerase Chain Reaction - methods; polymorphic markers; Pregnancy; Pregnancy. Fetus. Placenta; prenatal diagnosis; Prenatal Diagnosis - methods; QF-PCR
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/pd.301

Objective 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. Methods 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. Results 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. Conclusion Successful analysis of a large number of prenatal samples proves QF‐PCR to be an efficient adjunct in routine prenatal diagnosis. Copyright © 2002 John Wiley & Sons, Ltd.