Non-invasive prenatal testing for detection of trisomy 13, 18, 21 and sex chromosome aneuploidies in 8594 cases

Abstract

Objectives: Cell-free fetal DNA has been widely used in prenatal genetic testing during recent years. We explored the feasibility of non-invasive prenatal testing (NIPT) for analysis of common fetal aneuploidies among pregnancies in northwest China. Material and methods:A total of 8594 maternal blood samples were collected from October 2014 to December 2017 in the Department of Obstetrics and Gynecology at the First Affiliated Hospital of the Air Force Medical University. Cases with positive screening results by NIPT detection were validated using karyotype analysis. Results:Of 8594 clinical pregnancies, 88 had positive NIPT results and 78 of 88 (88.6%) positive NIPT results were shown to be false-positive by amniotic fluid puncture and chromosome karyotyping analysis. There were 44 cases (49.44%) with trisomy 21, 18, and 13 syndromes (30 cases of trisomy 21, 9 cases of trisomy 18, and 5 cases of trisomy 13). There were 44 cases (50.56%) with sex chromosome abnormalities, including 11 cases with Turner syndrome (45, X), 17 cases with Triple X syndrome (47, XXX), 2 cases with Klinefelter syndrome (47, XXY), and 14 cases with 47, XYY syndrome (47, XYY). Conclusions:The accuracy, specificity, high efficiency, and acceptance of NIPT can effectively avoid birth defects and improve the quality of the birth population. We should deepen mining and analysis of the clinical data and explore ways to use NIPT. It is recommended that the NIPT guidelines be extended to low-risk patients to further explore the impact of a significant increase in screening.

Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experience

“…For instance, Petersen et al [12] found a PPV of 26% for monosomy X, 50% for trisomy X, and 86% for 47, XXY, while Zhang et al [8] found a PPV of 29.41% for monosomy X, 100% for trisomy X, 77.78% for 47, XXY, and 100% for 47, XYY. Consistent with previous reports, monosomy X had the lowest PPV compared with the other SCAs in the present study [7,9,10], while the PPVs for monosomy X, trisomy X, 47, XXY, and 47, XYY aneuploidies were similar or even more accurate than that reported previously [10,[13][14][15].…”

“…Our study represents a clinical experience of the NIPT test in Italy for fetal SCA detection. In our hands, the performance of NIPT in detecting sex chromosome aberrations was comparable to that of recently published clinical studies and, in some cases, was more accurate [9,10]. This study has a number of limitations.…”

“…According to the scientific literature, the detection accuracy of SCAs by NIPT assay varies among different research groups [7][8][9]. For example, Deng C. et al [7] found that the PPV of NIPT was 18.39% for monosomy X, 44.4% for trisomy X, 39.29% for 47, XXY, and 75% for 47, XYY, while Zheng et al [10] reported a PPV of 44.4% for monosomy X, 58.3% for trisomy X, 100% for 47, XXY, and 50% for 47, XYY. Although high sensitivity and specificity for the determination of fetal sex chromosome aneuploidies are presented by commercial laboratories, no clear and consistent data on SCA detection in pregnancies have been reported.…”

Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experience.

“…For instance, Petersen et al (12) found a PPV of 26% for monosomy X, 50% for trisomy X, and 86% for 47,XXY, while Zhang et al (8)founda PPV of 29.41% for monosomy X, 100% for trisomy X, 77.78% for 47,XXY, and 100% for 47,XYY. Consistent with previous reports, monosomy X had the lowest PPV compared with the other SCAs in the present study (7,9,10), while the PPVs for monosomy X, trisomy X, 47,XXY, and 47,XYY aneuploidies were similar or even more accurate than that reported previously (10,(13)(14)(15). (9,10).…”

“…Consistent with previous reports, monosomy X had the lowest PPV compared with the other SCAs in the present study (7,9,10), while the PPVs for monosomy X, trisomy X, 47,XXY, and 47,XYY aneuploidies were similar or even more accurate than that reported previously (10,(13)(14)(15). (9,10). This study has a number of limitations.…”