Chromosome Abnormality Detection Rates of QF-PCR in Early Pregnancy Loss

Abstract

Early pregnancy loss (EPL) is the most common form of miscarriage and establishing its exact etiology is vital for the proper prognosis and management of possible future pregnancies. The aim of our study was to assess the incidence and types of chromosome abnormalities in product-of-conception (POC) samples analyzed by Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR). Two hundred fifty-seven POC samples meeting EPL criteria were referred to the Human Genomics Laboratory of the University of Medicine and Pharmacy of Craiova, Romania. DNA was extracted from both POC tissue and maternal blood samples, while PCR products were migrated on the ABI3730xl platform. A total of 124 samples were successfully analyzed, 46 cases (37.1%) showing various types of abnormalities, while no aneuploidies were found in the remaining 78 samples (62.9%). The most common abnormalities were monosomy X, followed by triploidy, trisomy 18, 16 and 15. The basic QF-PCR kit had an overall detection rate of 25.8%, but the detection rate rose to 37.1% when employing the extended kit. Our study proves that QF-PCR can be used as a first approach in the genetic analysis of POC, followed by conventional karyotyping (KT) or Chromosomal Microarray Analysis (CMA) as follow-up. QF-PCR is able to identify maternal cell contamination, as well as provide timely results.

Keywords: Early pregnancy loss; QF-PCR; aneuploidy; chromosome abnormality; product of conception.

Figure 1

Partial electropherograms of chromosome abnormalities detected by QF-PCR (a) Monosomy X; (b) Triploidy; (c) Trisomy 18; (d) Trisomy 15.