Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule

被引：13

作者：

Cayrefourcq, Laure ^{[2
]}

Vincent, Marie-Claire ^{[1
]}

Pierredon, Sandra ^{[1
]}

Moutou, Celine ^{[3
]}

Imbert-Bouteille, Marion ^{[1
]}

Haquet, Emmanuelle ^{[4
]}

Puechberty, Jacques ^{[4
]}

Willems, Marjolaine ^{[4
]}

Liautard-Haag, Cathy ^{[1
]}

Molinari, Nicolas ^{[5
]}

Zordan, Cecile ^{[6
]}

Dorian, Virginie ^{[6
]}

Rooryck-Thambo, Caroline ^{[6
]}

Goizet, Cyril ^{[6
]}

Chaussenot, Annabelle ^{[7
]}

Rouzier, Cecile ^{[7
]}

Boureau-Wirth, Amandine ^{[7
]}

Monteil, Laetitia ^{[8
]}

Calvas, Patrick ^{[8
]}

Miry, Claire ^{[9
]}

Favre, Romain ^{[9
]}

Petrov, Yuliya ^{[10
]}

Van Kien, Philippe Khau ^{[10
]}

Le Boette, Elsa ^{[11
]}

Fradin, Melanie ^{[11
]}

Alix-Panabieres, Catherine ^{[2
]}

Guissart, Claire ^{[1
]}

机构：

[1] Univ Montpellier, Inst Univ Rech Clin, Lab Genet Malad Rares, CHU Montpellier,EA7402, Montpellier, France

[2] Univ Med Ctr Montpellier, Lab Rare Human Circulating Cells LCCRH, Montpellier, France

[3] Hop Univ Strasbourg, Site CMCO, Lab Diagnost Preimplantatoire, Strasbourg, France

[4] Univ Montpellier, Ctr Reference Anomalies Dev & Syndromes Malformat, Dept Genet Med Malad Rares & Med Personnalisee, CHU Montpellier, Montpellier, France

[5] CHU Montpellier, Hop Colombiere, DIM, Montpellier, France

[6] CHU Bordeaux, Grp Hosp Pellegrin, Serv Genet Med, Bordeaux, France

[7] Hop Archet 2, Ctr Reference Malad Mitochondriales, Serv Genet Med, Nice, France

[8] CHU Toulouse, Serv Genet Med, Toulouse, France

[9] Strasbourg Univ Hosp, Dept Maternal Fetal Med, Strasbourg, France

[10] CHU Nimes, Lab Cytol Clin & Cytogenet, Nimes, France

[11] Ctr Hosp St Brieuc, Serv Genet Med, St Brieuc, France

来源：

SCIENTIFIC REPORTS | 2020年 / 10卷 / 01期

关键词：

PREIMPLANTATION GENETIC DIAGNOSIS; MATERNAL BLOOD; HUNTINGTONS-DISEASE; APOPTOSIS; NUMBER;

D O I：

10.1038/s41598-020-66923-9

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Non-Invasive Prenatal Diagnosis (NIPD), based on the analysis of circulating cell-free fetal DNA (cff-DNA), is successfully implemented for an increasing number of monogenic diseases. However, technical issues related to cff-DNA characteristics remain, and not all mutations can be screened with this method, particularly triplet expansion mutations that frequently concern prenatal diagnosis requests. The objective of this study was to develop an approach to isolate and analyze Circulating Trophoblastic Fetal Cells (CFTCs) for NIPD of monogenic diseases caused by triplet repeat expansion or point mutations. We developed a method for CFTC isolation based on DEPArray sorting and used Huntington's disease as the clinical model for CFTC-based NIPD. Then, we investigated whether CFTC isolation and Whole Genome Amplification (WGA) could be used for NIPD in couples at risk of transmitting different monogenic diseases. Our data show that the allele drop-out rate was 3-fold higher in CFTCs than in maternal cells processed in the same way. Moreover, we give new insights into CFTCs by compiling data obtained by extensive molecular testing by microsatellite multiplex PCR genotyping and by WGA followed by mini-exome sequencing. CFTCs appear to be often characterized by a random state of genomic degradation.

引用

页数：10

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