Successful early fetal sex determination using cell-free fetal DNA isolated from maternal capillary blood: A pilot study

Kazachkova, Nadiya; Gontar, J. V.; Verlinsky, Oleg; Ilyin, Igor

doi:10.1016/j.eurox.2019.100038

Cited by 11 publications

(10 citation statements)

References 17 publications

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“…In a study conducted by Kazachkova et al, the failure to detect Y chromosome biomarkers in cffDNA is influenced by gestational age coupled with low cffDNA concentration in maternal samples. 19 In addition, type of PCR used is proposed by Costa et al and Levi et al as an influence on detecting the Y chromosome. 23 , 24 …”

Section: Discussionmentioning

confidence: 99%

“…The developed single tube multiplex PCR in the study is more cost effective. The use of SRY, TSPY1 and DAZ are well studied [19][20][21] and showed high sensitivity for fetal gender determination, mostly through Real-Time PCR. However, good concentration of DNA was needed.…”

Section: Discussionmentioning

confidence: 99%

“…However, we are not able to get more blood due to restriction in the IRB approval. In a study conducted by Kazachkova et al, the 19 In addition, type of PCR used is proposed by Costa et al and Levi et al as an influence on detecting the Y chromosome. 23,24 Fetal DNA from fNRBC are the most suitable for early determination of fetal gender as it shows 100% accuracy in early pregnancy samples.…”

mentioning

confidence: 99%

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Fetal Nucleated Red Blood Cells Preferable Than Cell-Free Fetal DNA for Early Determination of Gender Among Invasive and Non-Invasive Source Using Novel Four Genes Multiplex PCR

Alhur¹,

Qahtani²,

AlSuhaibani³

et al. 2021

IJGM

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Background Deoxyribonucleic acid from invasive, non-invasive and 9th week embryo can be a resource for the determination of fetal sex using highly sensitive and specific multiplex PCR. Methods A total of 402 DNA samples were used to test the newly developed novel multiplex PCR including male specific (3 genes: SRY, DAZ2 and TSPY1 ) Y-biomarkers and internal control, ACTB . The study isolated cffDNA (Cell-free fetal DNA; n = 73) from mother’s plasma, serum and urine, fetal DNA from 9th week embryo and cord blood, and fetal DNA from CD71 +ve nucleated red blood cells (fNRBC; n = 73). Paternal and maternal DNA from buccal cells (n = 20) and blood (n = 232) used for male and female confirmation. Results The study observed that SRY alone cannot be a suitable Y-biomarker. Confirmation from any two Y-biomarkers is mandatory for male fetus identification. Direct sequencing of the gel eluted multiplex and single amplicons confirmed the specific sequences. Presence of two out of 3 Y-biomarkers OR single Y-biomarker with >1,000,000 intensity is considered positive for male. The multiplex PCR is suitable for determining sex from all source of fetal DNA including highly degraded cffDNA and can detect the sex using 0.5ng DNA. Individual marker-based real-time qPCR followed by combined melt curve analysis showed distinguished melt curve peaks for the markers. Conclusion The multiplex PCR achieved 100% accuracy on fetal DNA from fNRBC for early determinations (<13 weeks) of gender. The developed novel and simple multiplex PCR and individual qPCR can be adopted in all types of laboratories for determining human fetal gender using fetal DNA from fNRBC. Early identification of gender can support to prepare for possible X-linked analysis, reduce anxiety in mother, strengthen a bond between mother and fetus, and effective decision making. Non-invasive source of fetal DNA from fNRBC preferred for identifying gender to reduce the risk of invasive procedures in early (8–13 weeks) pregnancy.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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Fetal Nucleated Red Blood Cells Preferable Than Cell-Free Fetal DNA for Early Determination of Gender Among Invasive and Non-Invasive Source Using Novel Four Genes Multiplex PCR

Alhur¹,

Qahtani²,

AlSuhaibani³

et al. 2021

IJGM

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“…Self-collected capillary blood has been successfully utilized for fetal sex prediction through Y chromosome analysis. [9][10][11] In this study, we explore capillary blood collection as a possible All rights reserved. No reuse allowed without permission.…”

Section: Introductionmentioning

confidence: 99%

An exploration of methods to enable equitable access to non-invasive prenatal screening

Ehrich¹,

Sagaser²,

Ellison³

et al. 2022

Preprint

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Objective: To explore capillary blood collection as a potential method to enable more equitable access to non-invasive prenatal screening (NIPS) for aneuploidy. Methods: All participants contributed venous and capillary blood samples in this comparative study. Samples were analyzed using standard NIPS methods. Venous samples were used as the basis. Multiple parameters were compared including specimen collection, cfDNA characteristics, and NIPS outcome. Results: Venous and capillary sample pairs were successfully collected for comparative analysis from 202 participants. Cell free DNA (cfDNA) size profiles from venous vs capillary blood were not different (p >0.05). Evaluation of fetoplacental cfDNA contribution in plasma revealed no statistically significant difference in venous vs capillary samples. Elevated Z-scores for trisomy 21 (n=13), trisomy 18 (n=2), or trisomy 13 (n=1) were concordant between venous and capillary samples in all 16 pairs. Conclusion: We have demonstrated that sufficient capillary blood volumes can be obtained for NIPS. Furthermore, capillary and venous cfDNA samples have comparable characteristics. As NIPS results from capillary blood collections are equivalent to NIPS results obtained from venous blood, capillary blood collections are a potential candidate for a distributable NIPS system which promotes equitable access to NIPS for all pregnant patients.

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“…A plethora of noninvasive prenatal tests (NIPT) have been developed, however there are only a handful of clinical studies that are robust enough to show real-world accuracy, with most studies reporting on fewer than 1,000 total patient samples. [1][2][3][4][5][6] Credible and accurate inputs are crucial to the quality of the data output which plays a large role in the success of a given genetic test. In this study, we sought to show that the SneakPeek ® Early Gender DNA Test ("SneakPeek").…”

Section: Introductionmentioning

confidence: 99%

Large scale follow-up research study: SneakPeek® Early Gender DNA Test 99.9% accurate for fetal sex by live-birth confirmation

Milot¹,

Jerez²,

Jacob³

2020

IPCB

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Early fetal sex determination has become more prevalent among parents interested in planning for their unborn child. Current advances in non-invasive prenatal testing (NIPT) have facilitated this desire with safe and efficient methods such as the SneakPeek® Early Gender DNA Test (“SneakPeek”). Here, we report the accuracy of SneakPeek® from a large-scale clinical study of 1,029 pregnant women between 7 and 37 weeks of gestation (median =10 weeks). A follow-up survey was conducted on all study participants to determine whether the birth sex of their child matched the fetal sex test result reported by SneakPeek®. Venipuncture blood samples were collected from pregnant women in October through December of 2019, and subsequently analyzed with SneakPeek® to determine fetal sex. After birth, a survey was conducted to obtain live birth information for all participants in the study. Y-chromosome DNA was detected in 505 of the 506 samples from mothers that gave birth to baby boys, providing 99.8% sensitivity. Gender of all 523 newborn girls was identified correctly, resulting in 100% specificity. There were no cases of male DNA contamination identified in this study (i.e. no false positives). In the largest qPCR-based fetal sex test study to date, SneakPeek® test results were confirmed using the gold standard of the baby’s sex at birth. With 99.9% accuracy, SneakPeek® is the most reliable early fetal sex text available for expectant parents

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Successful early fetal sex determination using cell-free fetal DNA isolated from maternal capillary blood: A pilot study

Cited by 11 publications

References 17 publications

Fetal Nucleated Red Blood Cells Preferable Than Cell-Free Fetal DNA for Early Determination of Gender Among Invasive and Non-Invasive Source Using Novel Four Genes Multiplex PCR

Fetal Nucleated Red Blood Cells Preferable Than Cell-Free Fetal DNA for Early Determination of Gender Among Invasive and Non-Invasive Source Using Novel Four Genes Multiplex PCR

An exploration of methods to enable equitable access to non-invasive prenatal screening

Large scale follow-up research study: SneakPeek® Early Gender DNA Test 99.9% accurate for fetal sex by live-birth confirmation

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