How does cell-based non-invasive prenatal test (NIPT) perform against chorionic villus sampling and cell-free NIPT in detecting trisomies and copy number variations? A clinical study from Denmark

被引：6

作者：

Hatt, Lotte ^{[1
]}

Ravn, Katarina ^{[1
]}

Dahl Jeppesen, Line ^{[1
,2
]}

Hestbek Nicolaisen, Bolette ^{[1
]}

Baasch Christensen, Inga ^{[1
]}

Singh, Ripudaman ^{[1
]}

Schelde, Palle ^{[1
]}

Horsholt Thomsen, Simon ^{[2
,3
,4
]}

Christensen, Rikke ^{[3
]}

Sinding, Marianne ^{[5
,6
]}

Vase, Laura ^{[7
]}

Oestergaard, Marianne ^{[8
]}

Bender Ruggard, Marie ^{[9
]}

Jensen, Hanne S. ^{[10
]}

Mogensen, Helle ^{[11
]}

Uldbjerg, Niels ^{[4
,12
]}

Becher, Naja ^{[2
,3
,4
]}

Markholt, Sara ^{[3
]}

Sandager, Puk ^{[2
,4
,12
]}

Henning Pedersen, Lars ^{[4
,12
,13
]}

Vogel, Ida ^{[2
,3
,12
]}

机构：

[1] ARCEDI Biotech, Vejle, Denmark

[2] Aarhus Univ, Fac Hlth, Ctr Fetal Diagnost, Dept Clin Med, Aarhus, Denmark

[3] Aarhus Univ Hosp, Dept Clin Genet, Aarhus, Denmark

[4] Aarhus Univ, Dept Clin Med, Aarhus, Denmark

[5] Aalborg Univ, Dept Obstet & Gynecol, Aalborg, Denmark

[6] Aalborg Univ Hosp, Dept Clin Med, Aalborg, Denmark

[7] Randers Cent Hosp, Dept Obstet & Gynecol, Randers, Denmark

[8] Viborg Reg Hosp, Dept Obstet & Gynecol, Viborg, Denmark

[9] Horsens Reg Hosp, Dept Obstet & Gynecol, Horsens, Denmark

[10] Goedstrup Hosp, Dept Obstet & Gynecol, Herning, Denmark

[11] Kolding Cty Hosp, Dept Obstet & Gynecol, Kolding, Denmark

[12] Aarhus Univ Hosp, Dept Obstet & Gynecol, Aarhus, Denmark

[13] Aarhus Univ, Dept Biomed, Aarhus, Denmark

来源：

PRENATAL DIAGNOSIS | 2023年 / 43卷 / 07期

关键词：

D O I：

10.1002/pd.6387

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

ObjectivesWe aimed to compare cell-based NIPT (cbNIPT) to chorionic villus sampling (CVS) and to examine the test characteristics of cbNIPT in the first clinical validation study of cbNIPT compared to cell-free NIPT (cfNIPT). Material and MethodsStudy 1: Women (N = 92) who accepted CVS were recruited for cbNIPT (53 normal and 39 abnormal). Samples were analyzed with chromosomal microarray (CMA). Study 2: Women (N = 282) who accepted cfNIPT were recruited for cbNIPT. cfNIPT was analyzed using sequencing and cbNIPT by CMA. ResultsStudy 1: cbNIPT detected all aberrations (32/32) found in CVS: trisomies 13, 18 and 21 (23/23), pathogenic copy number variations (CNVs) (6/6) and sex chromosome aberrations (3/3). cbNIPT detected 3/8 cases of mosaicism in the placenta. Study 2: cbNIPT detected all trisomies found with cfNIPT (6/6) and had no false positive (0/246). One of the three CNVs called by cbNIPT was confirmed by CVS but was undetected by cfNIPT, two were false positives. cbNIPT detected mosaicism in five samples, of which two were not detected by cfNIPT. cbNIPT failed in 7.8% compared to 2.8% in cfNIPT. ConclusionCirculating trophoblasts in the maternal circulation provide the potential of screening for aneuploidies and pathogenic CNVs covering the entire fetal genome.

引用

页码：854 / 864

页数：11

共 8 条

[1] Applications of Non-invasive Prenatal Testing for Subchromosomal Copy Number Variations Using Cell-Free DNA
Xiang, Jiale
Peng, Zhiyu
CLINICS IN LABORATORY MEDICINE, 2022, 42 (04) : 613 - 625
[2] Challenges in non-invasive prenatal screening for sub-chromosomal copy number variations using cell-free DNA
Advani, Henna V.
Barrett, Angela N.
Evans, Mark I.
Choolani, Mahesh
PRENATAL DIAGNOSIS, 2017, 37 (11) : 1067 - 1075
[3] Non-invasive prenatal testing (NIPT) for 22q11.2 deletion syndrome using a targeted microarray-based cell-free (cfDNA) test
Schmid, M.
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EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 116 - 117
[4] Cell-Free DNA Testing for Fetal Chromosomal Anomalies in clinical practice: Austrian-German-Swiss Recommendations for non-invasive prenatal tests (NIPT)
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ULTRASCHALL IN DER MEDIZIN, 2015, 36 (05): : 507 - 510
[5] Serial genome-wide sequencing of cell-free DNA (cfDNA) by assays used in non-invasive prenatal testing (NIPT) to identify copy number alterations (CNAs) associated with immunotherapy response.
Goodman, Aaron
Jensen, Taylor
Kato, Shumei
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JOURNAL OF CLINICAL ONCOLOGY, 2017, 35
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Schmid, M.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 166 - 166
[7] Clinical performance of non-invasive prenatal testing (NIPT) using targeted cell-free DNA analysis in maternal plasma with microarrays or next generation sequencing (NGS) is consistent across multiple controlled clinical studies
Stokowski, Renee
Wang, Eric
White, Karen
Batey, Annette
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PRENATAL DIAGNOSIS, 2015, 35 (12) : 1243 - 1246
[8] Cell-based non-invasive prenatal testing (cbNIPT): an alternative to chorionic villus sampling to confirm diagnosis of unaffected fetuses following preimplantation genetic testing for monogenic disorders (PGT-M)
Toft, C. L. F.
Ingerslev, H. J.
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Hatt, L.
Singh, R.
Ravn, K.
Hestbek, B.
Christensen, I. B.
Koelvraa, M.
Jeppesen, L. D.
Schelde, P.
Vogel, I.
Uldbjerg, N.
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Ostergaard, M. L. V.
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Degn, B.
Okkels, H.
Ernst, A.
Pedersen, I. S.
HUMAN REPRODUCTION, 2020, 35 : 79 - 79

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