Early non-invasive fetal RHD genotyping and sex determination by conventional and multiplex PCR performing a rapid and low-cost cell-free fetal DNA extraction method

Torres, Bruna Gaelzer Silva; Stoffel, Tailini Jordana; Oro, Daniel; Rossi, Eliandra Mirlei; Miranda, Gustavo Borba de; Houenou, Lucien J.; Trott, Alexis

doi:10.1016/j.ejogrb.2012.07.028

Cited by 3 publications

(2 citation statements)

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“…The discovery of cffDNA fragments in maternal plasma created new possibilities for non-invasive prenatal diagnosis and determination of fetal sex at early stages of pregnancy in the management of X-linked genetic abnormalities, in particular. Previous studies [[7], [8], [9], [10], [11]] demonstrated high sensitivity of fetal sex determination using SRY, DYS14 and DAZ markers. However, data are scarce on the use of cffDNA for the analysis of fetuses at early gestational age (since 6 weeks), especially extracted from maternal capillary blood.…”

Section: Commentmentioning

confidence: 99%

“…A number of articles report the early fetal sex determination [[7], [8], [9], [10], [11],5,12], however vast majority of them used cffDNA extracted from maternal venous blood, excluding the possibility of capillary sampling for those who cannot tolerate venipuncture. Capillary sampling is preferred by most patients and is simpler, less painful.…”

Section: Introductionmentioning

confidence: 99%

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

Kazachkova

Gontar

Verlinsky

et al. 2019

European Journal of Obstetrics & Gynecology and Reproductiv

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Objectives The discovery of cell-free fetal DNA (cffDNA) fragments in maternal plasma made it possible to determine fetal sex at early stages of pregnancy without carrying a risk miscarriage, which is especially important for the management of X-linked genetic abnormalities. The vast majority of studies used cffDNA extracted from maternal venous blood, excluding the possibility of capillary sampling for those who cannot tolerate venipuncture. This study evaluates the possibility of fetal sex determination using cffDNA isolated from capillary blood of women with early gestational pregnancies. Study design Samples were obtained from 24 pregnant women from the Ukrainian population, whose gestational age varied between 5th to 10th weeks. Sex determination was performed using real-time quantitative PCR of SRY male-specific markers. Results were compared to the known fetal sex (detected by next-generation sequencing during the preimplantation genetic testing procedure) to calculate the test accuracy. Results Results demonstrated 85.71–100% sensitivity and 100% specificity of the test. Cohen's Kappa coefficient of agreement in sex determination test varied from 0.8 to 1.0 ( P < 0.00001). Conclusion This test, which is the first known so far detailed report of successful early fetal sex determination using cffDNA isolated from maternal capillary blood, is a reliable alternative to traditional venipuncture.

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Section: Commentmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

Kazachkova

Gontar

Verlinsky

et al. 2019

European Journal of Obstetrics & Gynecology and Reproductiv

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Fetal Origin Circulating Cell-Free Nucleic Acids in Maternal Circulation and Their Clinical Importance

Rather

2024

Non-Invasive Prenatal Screening (NIPS) in Clinical Practice

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Discrepancy in fetal sex assignment between cell free fetal DNA and ultrasound

2015

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Noninvasive prenatal testing utilizing free fetal DNA is commonly used in pregnancy to screen for trisomy 13, 18, 21 and also fetal sex aneuploidy. We report on two cases of discrepancy between phenotypic and genotypic sex and potential medical implications. In our first case, a patient with known male gender via cell free fetal DNA (cffDNA) testing had an ultrasound at 18 weeks' gestation, which identified Dandy-Walker malformation and female-appearing ambiguous genitalia. As Dandy-Walker malformation could not be considered isolated in the presence of ambiguous genitalia, this finding allowed for more complete counseling of the parents as well as extensive genetic workup. Our second case involved a fetus with intrauterine growth restriction diagnosed by ultrasound and normal-appearing female genitalia. After birth, adrenal insufficiency was diagnosed and chromosome analysis identified normal male chromosomes. These two cases showed that fetal sex determination by cffDNA can be used as a tool for earlier identification of affected pregnancies, allowing for parental decision-making, genetic testing and earlier intervention.

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Early non-invasive fetal RHD genotyping and sex determination by conventional and multiplex PCR performing a rapid and low-cost cell-free fetal DNA extraction method

Cited by 3 publications

References 4 publications

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

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

Fetal Origin Circulating Cell-Free Nucleic Acids in Maternal Circulation and Their Clinical Importance

Discrepancy in fetal sex assignment between cell free fetal DNA and ultrasound

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