Abstract
PurposeThe metaphase karyotype is often used as a diagnostic tool in the setting of early miscarriage; however this technique has several limitations. We evaluate a new technique for karyotyping that uses single nucleotide polymorphism microarrays (SNP). This technique was compared in a blinded, prospective fashion, to the traditional metaphase karyotype.MethodsPatients undergoing dilation and curettage for first trimester miscarriage between February and August 2010 were enrolled. Samples of chorionic villi were equally divided and sent for microarray testing in parallel with routine cytogenetic testing.ResultsThirty samples were analyzed, with only four discordant results. Discordant results occurred when the entire genome was duplicated or when a balanced rearrangement was present. Cytogenetic karyotyping took an average of 29 days while microarray-based karytoyping took an average of 12 days.ConclusionsMolecular karyotyping of POC after missed abortion using SNP microarray analysis allows for the ability to detect maternal cell contamination and provides rapid results with good concordance to standard cytogenetic analysis.
Highlights
First trimester miscarriages are common among couples with up to 20% of clinically recognized pregnancies ending in spontaneous abortion [1,2,3]
63% of karyotyped products of conception (POC) were chromosomally abnormal on routine cytogenetics
All 46,XX results from cytogentics were confirmed to be POC samples as microarray analysis clearly detected one maternal and one paternal copy of each chromosome, ruling out maternal contamination
Summary
First trimester miscarriages are common among couples with up to 20% of clinically recognized pregnancies ending in spontaneous abortion [1,2,3]. These events are multifactorial; certain risk factors are known to increase the risk of miscarriage. Whereas chromosomal testing of products of conception (POC) is not recommended for every miscarriage, there are many scenarios where knowing the chromosome status of a miscarried fetus can help in clinical management It can be helpful in the recurrent pregnancy loss and infertility populations. If the results suggest normal female karyotype (46,XX), a result that happens 55–80% of the time, it is unknown whether the tested sample was of fetal or maternal in origin [6]
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