Rapid diagnosis of triploidy of maternal origin using fluorescent PCR and DNA fragment analysis in the third trimester of pregnancy

• Published in: Prenatal diagnosis Vol. 22; no. 11; pp. 984 - 987
• Main Authors: Bán, Zoltán, Nagy, Bálint, Papp, Csaba, Tóth-Pál, Ernö, Papp, Zoltán
• Format: Journal Article
• Language: English
• Published: Chichester, UK John Wiley & Sons, Ltd 01.11.2002; Wiley
• Subjects: Abortion, Eugenic; Adult; Biological and medical sciences; Chromosome Aberrations; Chromosomes, Human, X; DNA - analysis; Female; fluorescent-PCR; Gestational Age; Gynecology. Andrology. Obstetrics; Humans; karyotype; Management. Prenatal diagnosis; Medical sciences; microsatellite analysis; Microsatellite Repeats; Mothers; Polymerase Chain Reaction - methods; Polyploidy; Pregnancy; Pregnancy Trimester, Third; Pregnancy. Fetus. Placenta; Prenatal Diagnosis - methods; Spectrometry, Fluorescence - methods; triploidy; Chromosomal aberration; Human; Maternal origin; Pregnancy disorders; microsatellite analysis; Aneuploidy; Third trimester; Case study; Prenatal; Polymerase chain reaction; Fetal diseases; fluorescent-PCR; Cytogenetics; Genetics; Fetus; Diagnosis; Triploidy; Molecular biology; Karyotype
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/pd.453

Objectives Triploidy is a common cause of spontaneous abortion in the very early stages of pregnancy. It is very rare for a prenatal diagnostic center to discover triploidy in the third trimester of pregnancy. A pregnant woman in the third trimester was referred to our genetic counselling clinic because of abnormal ultrasound findings. We planned to test for the most common chromosomal abnormalities. Methods We performed ultrasound examination, chorionic villus sampling, karyotyping and fluorescent‐polymerase chain reaction (F‐PCR) and fragment analysis. Results We diagnosed a 69,XXX karyotype fetus in the 31st week of gestation, based on a short tandem repeat (STR) pattern typical for triploidy, which was confirmed by karyotyping. The comparison of the fetal and parental STR patterns showed maternal origin of the extra haploid chromosome set. Conclusions STR analysis of fluorescent‐PCR and DNA fragment analysis is a rapid and reliable alternative to karyotyping for detection of certain aneuploidies. The method is also suitable for the determination of the origin of the extra chromosome set. Copyright © 2002 John Wiley & Sons, Ltd.