Identification of fetal aneuploidy with dual‐probe fluorescence in situ hybridization analysis in circulating trophoblasts after enrichment using a high‐sensitivity microfluidic platform
| Autor: | Adam Kinney Hiett, Brenda Garcia Lopez, Jennifer Barber-Singh, Philip D. Buchanan, Rolf Müller, Dylan Dufek, Jiri Sonek, Janet Dickerson, Judy Muller-Cohn |
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| Rok vydání: | 2021 |
| Předmět: |
Adult
Fetus medicine.diagnostic_test biology Microfluidics Obstetrics and Gynecology Aneuploidy Karyotype medicine.disease Trophoblasts Andrology Multinucleate Pregnancy Prenatal Diagnosis medicine biology.protein Humans Female Antibody Trisomy In Situ Hybridization Fluorescence Genetics (clinical) Fluorescence in situ hybridization Whole blood |
| Zdroj: | Prenatal Diagnosis. 41:1701-1708 |
| ISSN: | 1097-0223 0197-3851 |
| DOI: | 10.1002/pd.6046 |
| Popis: | Objective To evaluate a microfluidics-based positive selection technology for isolating circulating trophoblasts (CTs) from peripheral blood of women whose pregnancies are affected by aneuploidy and to evaluate fetal karyotype using fluorescence in situ hybridization (FISH). Method Ten 18-ml samples of peripheral blood were collected consecutively from pregnant women whose fetus was affected by aneuploidy. A preservation buffer was added, and the specimens were shipped overnight to the testing laboratory at ambient temperature. The specimen was infused into the fully automated microfluidics-based LiquidScan® instrument without pre-processing. This instrument contains microfluidic chips, which are coated with antibodies (anti-huEpCAM and a proprietary antibody mixture) specific to CT surface epitopes. FISH analysis was performed on the enriched cells. Results Fetal aneuploidy evaluated included trisomy 21 (n = 3), trisomy 18 (n = 1), trisomy 13 (n = 1), monosomy X (n = 3), and triploidy (n = 1). CTs for analysis by FISH were identified in all samples. The average number of mononucleate cells per 1 ml of whole blood was 2.11 (range 0.38-4.63) overall and was 2.67 (range 1.13-4.63) using the proprietary combination of antibodies. FISH results were concordant with the aneuploidy based on other testing in all cases. Multinucleate cells were searched for and identified in the last seven samples (average number: 0.84/1 ml). Conclusions Our study demonstrates that the LiquidScan® , a high-sensitivity microfluidic platform, can enrich circulating trophoblasts (mononucleate and multinucleate). FISH can then be used to detect fetal aneuploidy. |
| Databáze: | OpenAIRE |
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