Reduction in diagnostic and therapeutic interventions by non-invasive determination of fetal sex in early pregnancy

Hyett, Jon; Gardener, Glenn; Stojilkovic-Mikic, T.; Finning, Kirstin; Martin, Peter; Rodeck, Charles H.; Chitty, Lyn S.

doi:10.1002/pd.1284

Cited by 104 publications

(55 citation statements)

References 31 publications

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“…9 When used for determination, NIPD has a number of advantages over ultrasound and invasive testing. It is feasible from 7 weeks' gestation, 1,10,11 has been shown to be 499% accurate 11 and as it is non-invasive, carries no risk of miscarriage. Furthermore, it reduces the need for invasive procedures by up to 50% 1 and has also been shown to be cost neutral for those conditions, such as DMD, where the majority of carriers choose to have invasive testing.…”

Section: Introductionmentioning

confidence: 99%

Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users’ perspective

et al. 2012

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Prenatal fetal sex determination is clinically indicated for women who are at risk of having a child with a serious genetic disorder affecting a particular sex. Ultrasound has been the traditional method used, but early fetal sex determination using non-invasive prenatal diagnosis (NIPD) can now be performed using cell-free fetal DNA in maternal plasma. The study aim was to assess the views and experiences of service users who had used NIPD for fetal sex determination. In this paper, we report on the perceived benefits and disadvantages. A qualitative approach using semi-structured interviews was used. A total of 44 participants (38 women and 6 partners of participating women) were recruited. Participants' views and experiences of NIPD were overwhelmingly positive. Concerning benefits over traditional methods, three themes emerged: (1) technical aspects of technology; (2) timing; and (3) enhanced decision-making. Practical advantages of NIPD included avoiding miscarriage, and there were a number of psychological advantages associated with timing such as perceived control, early re-engagement, normalization of pregnancy and peace of mind. Participants also valued NIPD as it enabled a stepwise approach to decisionmaking. A number of disadvantages were discussed including concerns about social sexing and increased bonding at a time in pregnancy when miscarriage risk is high. However, participants felt these were fairly minor in comparison with the advantages of NIPD. Until definitive genetic diagnosis using NIPD is available, NIPD for fetal sex determination is perceived as a good interim measure with a number of notable advantages over traditional methods.

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Section: Introductionmentioning

confidence: 99%

Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users’ perspective

et al. 2012

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“…39 Despite using a very low volume of plasma (500 µl), no false-negative results were found in our study and we were able to issue results before the 10th week of gestation and without the need for a second maternal blood sample, as distinguished from other groups. 34,40 In our approach, female fetuses are not detected directly but only inferred by a negative result for Y-chromosome-specific sequences. We chose to use a combination of three Y-chromosome sequences to maximize the accuracy of the test.…”

Section: Genetics In Medicine | Volume 14 | Number 1 | January 2012mentioning

confidence: 99%

Noninvasive fetal sex determination in maternal plasma: a prospective feasibility study

Fernández-Martínez¹,

Galindo

García-Burguillo

et al. 2012

Genetics in Medicine

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Purpose: To prospectively validate a protocol for noninvasive fetal sex determination in maternal plasma and demonstrate its applicability to clinical practice. methods: Peripheral blood from 404 pregnant women undergoing prenatal invasive testing was collected from 6 to 23 weeks of gestation. Real-time PCR was performed for the SRY gene and multicopy DYS14 marker sequence located within the TSPY gene by the TaqMan minor groove binder probe assay as a first-line test. Owing to a false-positive result, amplification of repetitive motifs of the DAZ gene region was also tested as a second-line test performed in the last 232 patients enrolled in our series. A diagnostic algorithm was designed using a combination of these three markers. Fetal gender determined by noninvasive prenatal diagnosis (NIPD) was compared with that diagnosed by quantitative fluorescent PCR after invasive testing or ultrasound.Results: A single false-positive result was obtained in the first 172 pregnancies. Reporting criteria were modified in the subsequent 232 pregnancies, giving an overall sensitivity and specificity of 100% (95% CI 99.8-100%) and 99.5% (95% CI 98

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“…The ability to determine fetal sex early in pregnancy is not without bioethical concerns [14]. However, significant benefits from such prenatal technology have been reported.…”

Section: Discussionmentioning

confidence: 99%

“…A volume of 200 µL of whole blood would be sufficient to yield 100 µL of plasma. This smaller volume of whole blood needed for SneakPeek is about 1/50 th of the amount of whole blood required for current NIPTs [14][15][16].…”

Section: Discussionmentioning

confidence: 99%

“…However, significant benefits from such prenatal technology have been reported. For example, Hyett et al [14] showed a reduction in diagnostic and therapeutic interventions following non-invasive determination of fetal sex in early pregnancy. Knowledge of fetal gender in early pregnancy is clinically indicated if sex-linked genetic disorders are present.…”

Section: Discussionmentioning

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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Reduction in diagnostic and therapeutic interventions by non-invasive determination of fetal sex in early pregnancy

Cited by 104 publications

References 31 publications

Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users’ perspective

Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users’ perspective

Noninvasive fetal sex determination in maternal plasma: a prospective feasibility study

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

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