Effective detection of fetal sex using circulating fetal DNA in first‐trimester maternal plasma

Lim, Ji Hyae; Park, So Yeon; Kim, Shin Young; Kim, Dojin; Choi, Ji Eun; Kim, Min Hyoung; Choi, Jun Seek; Kim, Moon Young; Yang, Jae Hyug; Ryu, Hyun Mee

doi:10.1096/fj.11-191429

Cited by 16 publications

(30 citation statements)

References 31 publications

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“…Typically, early sex determination is completed using invasive techniques, such as chorionic villus sampling [7]. These invasive procedures carry an increased risk of miscarriage for the expectant mother [8].…”

Section: Introductionmentioning

confidence: 99%

“…Results from previous experiments have shown the possibility of fetal DNA in maternal plasma DNA for sex determination [10]. Sex determination is the most common clinical application in NIPT using cfDNA [7]. Different types Y-chromosome specific sequences have been used in previous studies, which vary in specificity and sensitivity [11].…”

mentioning

confidence: 99%

“…Different types Y-chromosome specific sequences have been used in previous studies, which vary in specificity and sensitivity [11]. For example, DYS14, a multicopy target and sex-determining region (SRY), a single copy gene, have been used in previous studies [7]. However, in these earlier studies a large volume of maternal blood had to be obtained [7].…”

mentioning

confidence: 99%

“…For example, DYS14, a multicopy target and sex-determining region (SRY), a single copy gene, have been used in previous studies [7]. However, in these earlier studies a large volume of maternal blood had to be obtained [7]. There is a need for an improved method for noninvasive prenatal testing (NIPT) of fetal sex using cell-free fetal DNA obtained from a micro volume of maternal plasma.…”

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confidence: 99%

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Early Fetal Sex Determination using Cell-Free DNA in Micro-Volume of Maternal Plasma

Primacio¹,

Milot²,

Jacob³

2017

J Preg Child Health

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Background: A qPCR-based assay, SneakPeek ® Early Gender Test (Gateway Genomics), has been developed to determine fetal sex as early as 9 weeks gestation using a micro-volume of maternal plasma. The purpose of this study was to assess the clinical performance of SneakPeek for noninvasive prenatal testing (NIPT) of fetal sex.Methods: A multicenter blinded study was conducted at fourteen ultrasound clinics with maternal blood samples collected from 241 pregnant women between 8.43 and 36.86 weeks of gestation. Plasma was separated from whole blood by double-centrifugation. Circulating cell-free DNA was isolated from a micro-volume of maternal plasma (100 µL) using a commercial DNA extraction kit (NucleoSpin ® Plasma XS, Macherey-Nagel). Real-time quantitative PCR was performed to detect fetal DNA using a multi-copy sequence on the Y-chromosome. An autosomal control gene was used to measure total cell-free DNA (maternal and fetal cfDNA). Fifty-nine maternal plasma samples were tested twice, on different days, to assess the precision of SneakPeek. Cell-free DNA was detected in all maternal blood samples.Results: Y-chromosome DNA was detected in all samples from women carrying a male fetus. SneakPeek correctly identified fetal sex in 240 of the 241 samples. Fetal sex for all samples was unknown prior to genetic testing and was confirmed via sonographic evaluation at the conclusion of the study. SneakPeek accuracy, sensitivity and specificity were 99.6%, 100% and 99.1% for fetal sex identification, respectively. Conclusion:This blinded multicenter study showed that SneakPeek Early Gender Test is highly accurate for fetal sex determination in early pregnancy. This micro volume noninvasive prenatal test for early fetal sex determination could simplify the collection of maternal blood and increase the accessibility of NIPT to a broad population.

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Section: Introductionmentioning

confidence: 99%

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confidence: 99%

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confidence: 99%

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confidence: 99%

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Early Fetal Sex Determination using Cell-Free DNA in Micro-Volume of Maternal Plasma

Primacio¹,

Milot²,

Jacob³

2017

J Preg Child Health

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“…This epigenetic strategy has led to the identification of DNA sequences which are methylated differently in maternal blood and placenta. Chim et al and Lim et al reported that the region of human PDE9A gene, located on chromosome 21q22.3, is completely methylated in the maternal blood ( M-PED9A ) and unmethylated in fetal (placental) tissues ( U-PED9A ) [20]–[22]. In previous studies, CpG sequences of U-PDE9A were modified by bisulfite conversion and selectively amplified by quantitative methylation-specific PCR (qMSP) [21], [22].…”

Section: Introductionmentioning

confidence: 99%

Cell-Free Fetal DNA and Cell-Free Total DNA Levels in Spontaneous Abortion with Fetal Chromosomal Aneuploidy

et al. 2013

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BackgroundCell-free fetal DNA and cell-free total DNA in maternal circulation have been proposed as potential markers for noninvasive monitoring of the placental condition during the pregnancy. However, the correlation of and change in cell-free fetal DNA and cell-free total DNA in spontaneous abortion (SA) with fetal chromosomal aneuploidy have not yet been reported. Therefore, we investigated cell-free fetal DNA and cell-free total DNA levels in SA women with fetal chromosomal aneuploidy.Methodology/Principal FindingsA nested case-control study was conducted with maternal plasma collected from 268 women in their first trimester of pregnancy. Subjects included 41 SA with normal fetal karyotype, 26 SA with fetal chromosomal aneuploidy, and 201 normal controls. The unmethylated PDE9A gene was used to measure the maternal plasma levels of cell-free fetal DNA. The GAPDH gene was used to measure the maternal plasma levels of cell-free total DNA. The diagnostic accuracy was measured using receiver-operating characteristic (ROC) curves. Levels of cell-free fetal DNA and cell-free total DNA were significantly higher in both SA women with normal fetal karyotype and SA women with fetal chromosomal aneuploidy in comparison with the normal controls (P<0.001 in both). The correlation between cell-free fetal DNA and cell-free total DNA levels was stronger in the normal controls (r = 0.843, P<0.001) than in SA women with normal karyotype (r = 0.465, P = 0.002) and SA women with fetal chromosomal aneuploidy (r = 0.412, P = 0.037). The area under the ROC curve for cell-free fetal DNA and cell-free total DNA was 0.898 (95% CI, 0.852–0.945) and 0.939 (95% CI, 0.903–0.975), respectively.ConclusionsSignificantly high levels of cell-free fetal DNA and cell-free total DNA were found in SA women with fetal chromosomal aneuploidy. Our findings suggest that cell-free fetal DNA and cell-free total DNA may be useful biomarkers for the prediction of SA with fetal chromosomal aneuploidy, regardless of fetal gender.

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Evaluation of extraction methods for methylated cell-free fetal DNA from maternal plasma

Lim

Lee

Kim

et al. 2018

J Assist Reprod Genet

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Effective detection of fetal sex using circulating fetal DNA in first‐trimester maternal plasma

Cited by 16 publications

References 31 publications

Early Fetal Sex Determination using Cell-Free DNA in Micro-Volume of Maternal Plasma

Early Fetal Sex Determination using Cell-Free DNA in Micro-Volume of Maternal Plasma

Cell-Free Fetal DNA and Cell-Free Total DNA Levels in Spontaneous Abortion with Fetal Chromosomal Aneuploidy

Evaluation of extraction methods for methylated cell-free fetal DNA from maternal plasma

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