Hello dear scientists
How can we distinguish maternal contamination from triploidy in QF-PCR analysis?
MCC can cause false-positive or false-negative results in QF-PCR, especially for sex chromosomes and autosomes with low STR variability 2. Therefore, it is important to distinguish MCC from triploidy, which is the presence of an extra haploid set of chromosomes in the fetus 3.
One way to distinguish MCC from triploidy is to use matching maternal and paternal samples as controls and compare the STR profiles of the fetal sample with them 4. If the fetal sample shows an extra allele that matches the maternal allele, it is likely due to MCC. If the fetal sample shows an extra allele that does not match either parent, it is likely due to triploidy 4.
Another way to distinguish MCC from triploidy is to use multiplex ligation-dependent probe amplification (MLPA), which can detect copy number variations (CNVs) of specific genes or regions on different chromosomes 5. MLPA can identify the parental origin of the extra chromosomal set and the type of triploidy (diandric or digynic) 5. MLPA can also detect submicroscopic CNVs that may be missed by QF-PCR 6.
you can check out these web search results:
- Efficient and cost-effective genetic analysis of products of conception …
- Assessment of Maternal Cell Contamination in Prenatal Samples by …
- Distribution of diandric and digynic triploidy depending on … - Springer
- Prenatal Diagnostic Value of Chromosomal Microarray in … - Hindawi
Raghad Mouhamad Thank you dear doctor. In one case, some markers were the same as the mother's, so it was thought to be from the mother. But the karyotype result actually showed triploidy.
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