Abstract
Prenatal diagnosis of aneuploidies and microdelation/duplication in amniotic fluid and fetal aborted material by QF-PCR and MLPA analysis
Highlights
Spontaneous pregnancy loss is relatively common and occurs in about 10-15% of all clinically recognized pregnancies resulting in pregnancy failure [1]
multiplex ligation-dependent probe amplification (MLPA) microdeletion/duplication analysis was performed in 33 cases of amnion where results were negative in 11 and positive in 22 samples, while in aborted material this analysis was positive in all 11 samples
In conclusion, the current results confirmed that both MLPA kits can be used for the prenatal diagnosis successfully, but it is better used it in combination with other techniques for prenatal diagnosis
Summary
Spontaneous pregnancy loss is relatively common and occurs in about 10-15% of all clinically recognized pregnancies resulting in pregnancy failure [1]. A lot of different prenatal diagnosis techniques has aims to detect the possible trisomic and/ or monosomic chromosomal abnormalities in embryo and fetal cells before birth, and in aborted fetal material [1,2,3,4,5]. Over the last few decades, prenatal diagnosis of fetal chromosomal abnormalities has relied on conventional cytogenetic analysis of cultured amniocytes, chronic villi or fetal blood as a gold standard for detections chromosomal abnormalities. Molecular techniques could play a role as an additional technique when culture failure or maternal contamination occurs in standard cytogenetic technique, and could be very important in detecting submicroscopic chromosomes variants [6]. Three rapid aneuploidy test (RATs) are used to detect the most common aneuploidies (trisomies 13, 18, 21 and sex chromosomes): fluorescence in situ hybridization, quantitative fluorescent PCR
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