Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System

被引：4

作者：

Gerundino, Francesca ^{[1
]}

Giachini, Claudia ^{[1
]}

Contini, Elisa ^{[1
]}

Benelli, Matteo ^{[1
]}

Marseglia, Giuseppina ^{[1
]}

Giuliani, Costanza ^{[1
]}

Marin, Francesca ^{[1
]}

Nannetti, Genni ^{[1
]}

Lisi, Ermanna ^{[1
]}

Sbernini, Fiammetta ^{[1
]}

Periti, Enrico ^{[2
,3
]}

Cordisco, Adalgisa ^{[2
,3
]}

Colosi, Enrico

D'ambrosio, Valentina

Mazzi, Marta ^{[4
]}

Rossi, Maya ^{[4
]}

Staderini, Lucia ^{[1
]}

Minuti, Barbara ^{[1
]}

Pelo, Elisabetta ^{[5
]}

Cicatiello, Rita ^{[6
]}

Maruotti, Giuseppe Maria ^{[7
]}

Sglavo, Gabriella ^{[7
]}

Conti, Anna ^{[6
]}

Frusconi, Sabrina ^{[1
]}

Pescucci, Chiara ^{[1
]}

Torricelli, Francesca ^{[1
]}

机构：

[1] Careggi Univ Hosp, Diagnost Genet Unit, Largo Brambilla 3, I-50134 Florence, Italy

[2] Azienda Sanit Firenze, Prenatal Diag Unit, Florence, Italy

[3] Misericordia Hosp, Reprod Med & Prenatal Care Unit, Dept Obstet & Gynecol, Grosseto, Italy

[4] Misericordia Hosp, Div Mol & Reprod Diagnost, Grosseto, Italy

[5] Azienda Sanit Firenze, Med Genet Unit, Florence, Italy

[6] Univ Federico II, Dept Mol Med & Med Biotechnol, Naples, Italy

[7] Univ Federico II, Dept Gynecol & Obstet, Naples, Italy

来源：

JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE | 2017年 / 30卷 / 06期

关键词：

Circulating cell-free fetal DNA; fetal trisomy; first-trimester screening; massively parallel sequencing; maternal plasma; CELL-FREE DNA; SEX CHROMOSOMAL ANEUPLOIDIES; MATERNAL PLASMA; DIAGNOSIS; BLOOD; MOSAICISM;

D O I：

10.1080/14767058.2016.1183633

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Objective: The aim of this study was to validate noninvasive prenatal testing (NIPT) for fetal aneuploidies by whole-genome massively parallel sequencing (MPS). Methods: MPS was performed on cell-free DNA (cfDNA) isolated from maternal plasma in two groups: a first set of 186 euploid samples and a second set of 195 samples enriched of aneuploid cases (n=69); digital PCR for fetal fraction (FF) assessment was performed on 178/381 samples. Cases with <10 x 10(6) reads (n=54) were excluded for downstream data analysis. Follow-up data (invasive testing results or neonatal information) were available for all samples. Performances in terms of specificity/sensitivity and Z-score distributions were evaluated. Results: All positive samples for trisomy 21 (T21) (n=43), trisomy 18 (T18) (n=6) and trisomy 13 (T13) (n=7) were correctly identified (sensitivity: 99.9%); 5 false positive results were reported: 3 for T21 (specificity=98.9%) and 2 for T13 (specificity=99.4%). Besides FF, total cfDNA concentration seems another important parameter for MPS, since it influences the number of reads. Conclusions: The overall test accuracy allowed us introducing NIPT for T21, T18 and T13 as a clinical service for pregnant women after 10+4 weeks of gestation. Sex chromosome aneuploidy assessment needs further validation due to the limited number of aneuploid cases in this study.

引用

页码：710 / 716

页数：7

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