PMID- 34582049 OWN - NLM STAT- MEDLINE DCOM- 20220210 LR - 20220210 IS - 1097-0223 (Electronic) IS - 0197-3851 (Linking) VI - 41 IP - 13 DP - 2021 Dec TI - Identification of fetal aneuploidy with dual-probe fluorescence in situ hybridization analysis in circulating trophoblasts after enrichment using a high-sensitivity microfluidic platform. PG - 1701-1708 LID - 10.1002/pd.6046 [doi] AB - 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((R)) 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((R)) , a high-sensitivity microfluidic platform, can enrich circulating trophoblasts (mononucleate and multinucleate). FISH can then be used to detect fetal aneuploidy. CI - (c) 2021 John Wiley & Sons Ltd. FAU - Sonek, Jiri AU - Sonek J AUID- ORCID: 0000-0002-9167-1170 AD - Department of Obstetrics and Gynecology, Wright State University, Dayton, Ohio, USA. FAU - Muller, Rolf AU - Muller R AD - BioFluidica, Inc., San Diego, California, USA. FAU - Muller-Cohn, Judy AU - Muller-Cohn J AD - BioFluidica, Inc., San Diego, California, USA. FAU - Dickerson, Janet AU - Dickerson J AD - BioFluidica, Inc., San Diego, California, USA. FAU - Garcia Lopez, Brenda AU - Garcia Lopez B AD - BioFluidica, Inc., San Diego, California, USA. FAU - Barber-Singh, Jennifer AU - Barber-Singh J AD - BioFluidica, Inc., San Diego, California, USA. FAU - Dufek, Dylan AU - Dufek D AD - BioFluidica, Inc., San Diego, California, USA. FAU - Hiett, Adam Kinney AU - Hiett AK AUID- ORCID: 0000-0003-1347-6131 AD - Department of Obstetrics and Gynecology, Wright State University, Dayton, Ohio, USA. FAU - Buchanan, Philip AU - Buchanan P AD - Department of Obstetrics and Gynecology, The George Washington University, Washington, DC, USA. LA - eng GR - U.S. Department of Health and Human Services/ GR - NH/NIH HHS/United States GR - R43HD098942/Eunice Kennedy Shriver National Institute of Child Health and Human Development/ GR - NH/NIH HHS/United States PT - Journal Article DEP - 20210928 PL - England TA - Prenat Diagn JT - Prenatal diagnosis JID - 8106540 SB - IM MH - Adult MH - *Aneuploidy MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence/instrumentation/*methods/statistics & numerical data MH - Microfluidics/*methods/statistics & numerical data MH - Pregnancy MH - Prenatal Diagnosis/methods MH - Trophoblasts/pathology/*physiology EDAT- 2021/09/29 06:00 MHDA- 2022/02/11 06:00 CRDT- 2021/09/28 12:30 PHST- 2021/08/08 00:00 [revised] PHST- 2021/05/22 00:00 [received] PHST- 2021/09/09 00:00 [accepted] PHST- 2021/09/29 06:00 [pubmed] PHST- 2022/02/11 06:00 [medline] PHST- 2021/09/28 12:30 [entrez] AID - 10.1002/pd.6046 [doi] PST - ppublish SO - Prenat Diagn. 2021 Dec;41(13):1701-1708. doi: 10.1002/pd.6046. Epub 2021 Sep 28.