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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Decoding Genetic Risk Factors in Recurrent Pregnancy Loss: An Integrative Chromosomal and Bioinformatics Approach.

Shivani Mishra1, Ashish Ashish2, Sangeeta Rai3

  • 1Department of Anatomy, Institute of Medical Science, Banaras Hindu University, Varanasi, 221005, India.

Biochemical Genetics
|June 29, 2026
PubMed
Summary
This summary is machine-generated.

Recurrent pregnancy loss (RPL) is linked to chromosomal abnormalities. Combining quantitative fluorescent PCR (QF-PCR) and array comparative genomic hybridization (aCGH) improves detection of these genetic causes, aiding in understanding RPL.

Keywords:
CNVsGene ontologyQF-PCRRecurrent pregnancy lossaCGH microarray

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Area of Science:

  • Genetics
  • Reproductive Medicine
  • Genomic Analysis

Background:

  • Recurrent pregnancy loss (RPL) affects 2-5% of couples, often linked to genetic factors.
  • Chromosomal abnormalities, including aneuploidies and copy number variations (CNVs), are significant contributors to RPL.
  • Accurate genetic diagnosis is crucial for understanding RPL etiology and guiding reproductive choices.

Purpose of the Study:

  • To evaluate the combined diagnostic utility of quantitative fluorescent PCR (QF-PCR) and array comparative genomic hybridization (aCGH) for identifying chromosomal abnormalities in recurrent pregnancy loss.
  • To investigate the association between maternal age and chromosomal abnormalities in RPL.
  • To explore the functional pathways associated with copy number variations (CNVs) identified in RPL.

Main Methods:

  • Collected 125 fetal specimens, with 118 included after exclusion criteria.
  • Performed quantitative fluorescent PCR (QF-PCR) for rapid aneuploidy screening on 118 samples.
  • Conducted array comparative genomic hybridization (aCGH) on 30 selected samples, followed by bioinformatics analysis.

Main Results:

  • QF-PCR detected aneuploidy in 30.5% (36/118) of cases, including monosomies and trisomies.
  • Maternal age was significantly associated with chromosomal abnormalities (p<0.05).
  • aCGH identified clinically relevant CNVs, implicating genes in immune, endocrine, and placental development pathways.

Conclusions:

  • Combining QF-PCR and aCGH enhances the diagnostic yield for chromosomal abnormalities in recurrent pregnancy loss.
  • Maternal age is a significant risk factor for chromosomal abnormalities in RPL.
  • Further validation is needed for the identified CNV-associated biological pathways in larger cohorts.