CHROMOSOME ABNORMALITIES IN SPONTANEOUS ABORTIONS: APPLICATION OF MULTICOLOR FLUORESCENT IN SITU HYBRIDIZATION AND ORIGINAL DNA PROBES FOR CHROMOSOMES 1, 9, 13, 14, 16, 18, 21, 22, X AND Y
Vorsanova SG1,*, Kirilova EA2, Yurov YB3, Kolotii AD1, Monakhov VV3, Iourov IY3, Beresheva AK1
*Corresponding Author: : Professor Dr. Svetlana G. Vorsanova, Director of Molecular-Cytogenetic Laboratory of Neuropsychiatric Diseases, Institute of Pediatrics and Children Surgery, Russian Ministry of Health, TaldomŽskaya str 2, 127 412 Moscow, Russia; Tel.: +7-095-484-1948; Fax: +7-095-952-8940; E-mail: y_yurov@ yahoo.com
page: 49

Abstract

Chromosomal abnormalities are considered to be the main cause of spontaneous abortions in the first trimester of pregnancy. Interphase multicolor fluorescent in situ hybridization (mFISH) is one of the effective methods allowing accurate determination of chromosomal gains and losses in uncultured cells. We applied mFISH, using original DNA probes for chromosomes 1, 9, 13, 14, 16, 18, 21, 22, X, and Y, to investigate chromosomal abnor­malities in 63 specimens of spontaneous abortions. A chro­mosomal abnormality was found in 61.9% of spontaneous abortions. Among abnormal specimens, aneuploidies of sex chromosomes (28.2%), chromosomes 13 or 21 (17.9%), chromosome 16 (15.4%), chromosome 9 (7.7%), chromosome 1 (5.1%), chromosomes 14 or 22 (5.1%) and chromosome 18 (2.7%), were found. Polyploidy was found in 17.9% of specimens with an abnormal karyotype. The percentage of abnormal male fetuses was 73.3% and abnormal female fetuses 50%. Among spontaneous abor­tions with chromosomal abnormalities, 51.3% had mosaic forms of aneuploidy or polyploidy.

  

The set of original DNA probes was found to be appli­cable for accurate and rapid screening of aneuploidies in spontaneous abortion specimens, allowing the determina­tion of regular as well as mosaic forms of chromosome abnormalities.

Key words: Chromosomal abnormalities; Spontaneous abortions; Multicolor fluorescent in situ hybridization (mFISH); Aneuploidy; Polyploidy.




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