Noninvasive Diagnosis of Fetal Gender: Utility of Combining<i>DYS14</i>and<i>SRY</i>

Invasive procedures including chorionic villus sampling and amniocentesis in sexlinked diseases increase the risk of fetal loss. Therefore, Noninvasive fetal gender determination using cell-free fetal DNA (cffDNA) in maternal plasma may be promising. Fifty pregnant females with gestational age ranging from six to ten weeks were included. cffDNA were extracted from maternal plasma and amplified by real time and conventional PCR for identification of SRY, DYS14 and DAZ genes as specific genetic markers for male-bearing pregnancies. In general, sensitivity and specificity of real time PCR was better than conventional PCR. However, sensitivity of DYS14 gene and specificity of SRY gene by real time PCR was equal to those of conventional PCR.Sensitivity of DYS14 gene was the highest and sensitivity of SRY gene was the lowest.However, combination of the three Y-chromosomal sequences in the diagnosis increased the accuracy of the test, which is suitable for clinical application.

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“…Nearly similar results were achieved by Jacob et al, 2015(84% and 92.8%) [23]. However, higher sensitivity results obtained by Rijnders et al,…”

Section: Discussionsupporting

confidence: 80%

Comparative Value of Real Time and Conventional PCR in Antenatal Gender Determination

Azab

Salim

Farag

2016

BESPS

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“…As seen with other studies, using both genes demonstrated a marked improvement of sexing the fetus [12, 30–32]; however, these studies used maternal plasma as the source. To our knowledge, this is one of the first studies to examine the SRY and DYS14 regions to sex an embryo before implantation.…”

Section: Discussionmentioning

confidence: 81%

Whole Genome Amplification of Day 3 or Day 5 Human Embryos Biopsies Provides a Suitable DNA Template for PCR-Based Techniques for Genotyping, a Complement of Preimplantation Genetic Testing

Schaeffer

López-Bayghen

Neumann³

et al. 2017

BioMed Research International

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Our objective was to determine if whole genome amplification (WGA) provides suitable DNA for qPCR-based genotyping for human embryos. Single blastomeres (Day 3) or trophoblastic cells (Day 5) were isolated from 342 embryos for WGA. Comparative Genomic Hybridization determined embryo sex as well as Trisomy 18 or Trisomy 21. To determine the embryo's sex, qPCR melting curve analysis for SRY and DYS14 was used. Logistic regression indicated a 4.4%, 57.1%, or 98.8% probability of a male embryo when neither gene, SRY only, or both genes were detected, respectively (accuracy = 94.1%, kappa = 0.882, and p < 0.001). Fluorescent Capillary Electrophoresis for the amelogenin genes (AMEL) was also used to determine sex. AMELY peak's height was higher and this peak's presence was highly predictive of male embryos (AUC = 0.93, accuracy = 81.7%, kappa = 0.974, and p < 0.001). Trisomy 18 and Trisomy 21 were determined using the threshold cycle difference for RPL17 and TTC3, respectively, which were significantly lower in the corresponding embryos. The Ct difference for TTC3 specifically determined Trisomy 21 (AUC = 0.89) and RPL17 for Trisomy 18 (AUC = 0.94). Here, WGA provides adequate DNA for PCR-based techniques for preimplantation genotyping.

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“…The DYS14 gene can also identify male DNA in a mixture of male and female blood samples (Barra et al 2015) and in a mixture of male and female saliva samples (Kamodyova et al 2013). In a study of non-invasive fetal gender (Jacob et al 2015), the combined use of DYS14 and SRY recognized correctly 100% of samples from male-bearing pregnancy while two male samples with SRY gave false-negative results.…”

Section: Discussionmentioning

confidence: 99%

Molecular analysis for sex determination in forensic dentistry: a systematic review

Maulani¹,

Auerkari²

2020

Egypt J Forensic Sci

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Background Sex determination can be useful in forensic casework, such as in mass disasters, transportation accidents, and cases of a missing person or sexual assault. The remnants of the body can be traced by DNA of the victim, using samples from various sources such as teeth, oral epithelial tissue, and saliva. Main body The review aimed to describe research in forensic dentistry with DNA source from the oral region and methods of the applied DNA analysis. A search in PubMed, Google Scholar, and Scopus electronic databases from 2009 to 2019 was conducted to include studies according to PRISMA guidelines. Ten studies were eligible for the review. Genetic markers originated from dentin, dental pulp, saliva, or epithelial cells from buccal tissue and prosthesis. The applied DNA analysis methods were PCR, real-time PCR, and nested PCR. Conclusions The published articles mostly showed successful DNA extraction and sex determination, but the rate of success declined as the sample source underwent manipulation to mimic the forensic conditions. Amelogenin, SRY, and DYS14 were reliable indicators for sex determination. Molecular analysis has proved to be efficient and accurate, but the daily forensic practice must select the most appropriate method according to the available body remnants.

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Noninvasive Diagnosis of Fetal Gender: Utility of CombiningDYS14andSRY

Abstract: Our results show that the test performance improved with the employment of two Y-amplification assays.

Cited by 11 publications

References 29 publications

Comparative Value of Real Time and Conventional PCR in Antenatal Gender Determination

Comparative Value of Real Time and Conventional PCR in Antenatal Gender Determination

Whole Genome Amplification of Day 3 or Day 5 Human Embryos Biopsies Provides a Suitable DNA Template for PCR-Based Techniques for Genotyping, a Complement of Preimplantation Genetic Testing

Molecular analysis for sex determination in forensic dentistry: a systematic review

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