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Reports of Biochemistry and Molecular Biology
rbmb.net
Basic Sciences
http://rbmb.net
1
admin
2322-3480
2322-3480
10.61882/rbmb
en
jalali
1399
7
1
gregorian
2020
10
1
9
3
online
1
fulltext
en
Noninvasive Fetal Sex Determination by Real-Time PCR and TaqMan Probes
زیست شناسی ملکولی
Molecular Biology
مقالات اصلی
Original Article
<div style="text-align: justify;"><strong><em>Background:</em></strong> 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.<br>
<br>
<strong><em>Methods:</em></strong> 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.<br>
<br>
<strong><em>Results:</em></strong> 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%.<br>
<br>
<strong><em>Conclusions:</em></strong> 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.</div>
Cell-free fetal DNA, Fetal sex determination, Noninvasive prenatal diagnosis, Sex-linked genetic diseases, SRY.
315
323
http://rbmb.net/browse.php?a_code=A-10-478-1&slc_lang=en&sid=1
Mohammad Hossein
Ahmadi
100319475328460017674
100319475328460017674
No
Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran
Naser
Amirizadeh
100319475328460017675
100319475328460017675
No
Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran
Maryam
Rabiee
100319475328460017676
100319475328460017676
No
Department of Obstetrics and Gynecology, Shahed University, Tehran, Iran
Fatemeh
Rahimi-Sharbaf
100319475328460017677
100319475328460017677
No
Department of Perinatology, Yas Hospital, Tehran University of Medical Sciences, Tehran, Iran
Ali Akbar
Pourfathollah
pourfa@modares.ac.ir
100319475328460017678
100319475328460017678
Yes
Department of Immunology, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran