[Clinical Application Assessment of KaryoLite BoBs Combined with QF-PCR in the Detection of Products of Conception]

Hang Su; Hong-Mei Zhu; Ling-Ping Li; Ze Du; Yang Zeng; Ting Hu; Zhu Zhang; Shan-Ling Liu; He Wang

[Clinical Application Assessment of KaryoLite BoBs Combined with QF-PCR in the Detection of Products of Conception]

Sichuan Da Xue Xue Bao Yi Xue Ban. 2018 Mar;49(2):226-230.

[Article in Chinese]

Authors

Hang Su^{1

2}, Hong-Mei Zhu^{1

2}, Ling-Ping Li^{1

2}, Ze Du^{1

2}, Yang Zeng^{1

2}, Ting Hu^{1

2}, Zhu Zhang^{1

2}, Shan-Ling Liu^{1

2}, He Wang^{1

2}

Affiliations

¹ Department of Prenatal Diagnosis of Obstetrics and Gynecology,West China Second University Hospital,Chengdu 610041,China.
² Key Laboratory of Birth Defects and Related Diseases of Women and Children,Ministry of Education,Sichuan University,Chengdu 610041,China.

PMID: 29737065

Abstract

Objective: To assess the accuracy and discuss the feasibility of KaryoLite bacterial artificial chromosome on beads (KL-BoBs) and quantitative fluorescent polymerase chain reaction (QF-PCR) in genetic testing of products of conception (POC) by comparing with the chromosomal microarray analysis (CMA) test results.

Methods: Eighty-one cases of abortion samples were collected in the prenatal diagnosis center of West China Second University Hospital in Sichuan University from May to August 2016,including 61 cases of placenta tissues,19 cases of fetal muscle tissues and 1 case of fetal liver tissue. KL-BoBs and QF-PCR were used to detect the samples. The results were compared with those of CMA test to evaluate the accuracy of KL-BoBs and QF-PCR.

Results: Of the 81 POC samples,the results of 70 samples tested by KL-BoBs was consistent with that of CMA. Among them,36 cases were normal karyotype and 34 cases were abnormal karyotypes (aneuploidy). Triploid could not been detected by KL-BoBs (the results were shown 2 cases were normal karyotype and 5 cases were aneuploidy),whereas CMA and QF-PCR could be detected. Copy number variation of small segments could not been detected by KL-Bobs. Four cases of copy number variationwere detected by CMA.Compared with CMA,the positive coincident rate of KL-BoBs combined with QF-PCR was 91.1% (41/45),the negative coincidence rate was 100% (36/36). The accuracy rate of KL-BoBs was 86.4% (70/81),the false positive was 0% and the false negative was 13.3% (6/45). Whereas both KL-BoBs and QF-PCR were simultaneously detected,the accuracy rate would be improved to 95.1% (77/81).

Conclusion: The accuracy rate of KL-BoBs combined with QF-PCR was high for testing early pregnancy abortion tissue. It can be used as a first-tier test.

Keywords: Aneusomies; Bacterial artificial chromosome on beads; Products of conception; Quantitative fluorescent polymerase chain reaction.

MeSH terms

Aborted Fetus / pathology
Aneuploidy
China
Chromosome Disorders / diagnosis*
Chromosomes, Artificial, Bacterial
DNA Copy Number Variations
Female
Humans
Karyotyping / methods*
Placenta / pathology
Polymerase Chain Reaction*
Pregnancy
Prenatal Diagnosis*