Volume 9, Issue 3 (Vol.9 No.3 Oct 2020)
rbmb.net 2020, 9(3): 315-323 |
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Mohammad Hossein Ahmadi 
, Naser Amirizadeh , Maryam Rabiee , Fatemeh Rahimi-Sharbaf , Ali Akbar Pourfathollah *
, Naser Amirizadeh , Maryam Rabiee , Fatemeh Rahimi-Sharbaf , Ali Akbar Pourfathollah *
Department of Immunology, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran
Abstract: (4137 Views)
Background: Noninvasive fetal sex determination by analyzing Y chromosome-specific sequences is very useful in the management of cases related to sex-linked genetic diseases. The aim of this study was to establish a non-invasive fetal sex determination test using Real-Time PCR and specific probes.
Methods: The study was a prospective observational cohort study conducted from August 2018 to September 2019. Venous blood samples were collected from 25 Iranian pregnant women at weeks 7 to 25 of gestation. Cell-free DNA (cfDNA) was isolated from the plasma of samples and fetal sex was determined by SRY gene analysis using the Real-Time PCR technique. In the absence of SRY detection, the presence of fetal DNA was investigated using cfDNA treated with BstUI enzyme and PCR for the epigenetic marker RASSF1A.
Results: Of the total samples analyzed, 48% were male and 52% female. The RASSF1A assay performed on SRY negative cases also confirmed the presence of cell-free fetal DNA. Genotype results were in full agreement with neonate gender, and the accuracy of noninvasive fetal sex determination was 100%.
Conclusions: Fetal sex determination using the strategy applied in this study is noninvasive and highly accurate and can be exploited in the management of sex-linked genetic diseases.
Methods: The study was a prospective observational cohort study conducted from August 2018 to September 2019. Venous blood samples were collected from 25 Iranian pregnant women at weeks 7 to 25 of gestation. Cell-free DNA (cfDNA) was isolated from the plasma of samples and fetal sex was determined by SRY gene analysis using the Real-Time PCR technique. In the absence of SRY detection, the presence of fetal DNA was investigated using cfDNA treated with BstUI enzyme and PCR for the epigenetic marker RASSF1A.
Results: Of the total samples analyzed, 48% were male and 52% female. The RASSF1A assay performed on SRY negative cases also confirmed the presence of cell-free fetal DNA. Genotype results were in full agreement with neonate gender, and the accuracy of noninvasive fetal sex determination was 100%.
Conclusions: Fetal sex determination using the strategy applied in this study is noninvasive and highly accurate and can be exploited in the management of sex-linked genetic diseases.
Keywords: Cell-free fetal DNA, Fetal sex determination, Noninvasive prenatal diagnosis, Sex-linked genetic diseases, SRY.
Type of Article: Original Article |
Subject:
Molecular Biology
Received: 2020/04/18 | Accepted: 2020/05/7 | Published: 2020/12/1
Received: 2020/04/18 | Accepted: 2020/05/7 | Published: 2020/12/1
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