Abstract

BackgroundApproximately 10–15 % of all clinically recognized pregnancies end in miscarriage, the majority of them occur during the first trimester, underlying the cause of the loss. Genetic analysis of fetal tissues has the potential to provide valuable information and is highly recommended in some cases. Around 3–4 years ago, the gold standard for the analysis was the GTG Kayrotype, is well known that around 50 % of the tissue samples received failed to grow in culture. Different molecular techniques are used to improve the quality and the specificity of the study, intending to circumvent the limits of the Karyotype.ResultsKaryolite-BoBs™ (KL-BoB™) assay is a recent bead-based suspension, low density array technology with consistent results, probed that is an efficient molecular method to detect aneusomies in early pregnancy losses. Fifty samples from abortions were analyzed in order to probe and give more information about the methodology and analyze if KL-BoBs™ is a good and cost-efficient strategy. We detected 32 % of chromosomal abnormalities, in some of the cases more than one aberration was identified, the array CGH validate the observations.ConclusionsThis molecular strategy is a cost-effective sensitive tool in the early pregnancy loss study.

Highlights

  • 10–15 % of all clinically recognized pregnancies end in miscarriage, the majority of them occur during the first trimester, underlying the cause of the loss

  • After a positive experience with the prenatal BOBsTM, we decided to analyze a consecutive series of 50 PCOs using the KL-BoBsTM assay in order to consider this strategy an affordable and useful strategy for the detection of chromosomal abnormalities in the abortion samples, and give more information about the technology and its limitations in our population

  • We performed the study in samples from recurrent early pregnancy losses before 12 weeks of gestation

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Summary

Introduction

10–15 % of all clinically recognized pregnancies end in miscarriage, the majority of them occur during the first trimester, underlying the cause of the loss. Genetic analysis of fetal tissues has the potential to provide valuable information and is highly recommended in some cases. Conclusions: This molecular strategy is a cost-effective sensitive tool in the early pregnancy loss study. Wellknown studies suggest that around 50 % of the losses are due to fetal chromosomal abnormalities [1,2,3,4]. Genetic analysis of fetal tissues has the potential to provide valuable information regarding the underlying cause of miscarriages, allowing a decrement in the cost of further analysis and genetic counseling of a subsequent recurrence risk. It has been observed that most couples feel relieved when they know the cause of the pregnancy loss [4,5,6]

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