Ahmadi Mohammad Hossein, Amirizadeh Naser, Rabiee Maryam, Rahimi-Sharbaf Fatemeh, Pourfathollah Ali Akbar
Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran.
Department of Obstetrics and Gynecology, Shahed University, Tehran, Iran.
Rep Biochem Mol Biol. 2020 Oct;9(3):315-323. doi: 10.29252/rbmb.9.3.315.
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.
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.
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%.
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.
通过分析Y染色体特异性序列进行无创胎儿性别鉴定在与性连锁遗传病相关病例的管理中非常有用。本研究的目的是建立一种使用实时荧光定量聚合酶链反应（Real-Time PCR）和特异性探针的无创胎儿性别鉴定检测方法。
本研究是一项前瞻性观察队列研究，于2018年8月至2019年9月进行。从25名伊朗孕妇妊娠7至25周时采集静脉血样本。从样本血浆中分离游离DNA（cfDNA），并使用实时荧光定量聚合酶链反应技术通过SRY基因分析确定胎儿性别。在未检测到SRY的情况下，使用经BstUI酶处理的cfDNA和针对表观遗传标记RASSF1A的聚合酶链反应研究胎儿DNA的存在情况。
在分析的所有样本中，48%为男性，52%为女性。对SRY阴性病例进行的RASSF1A检测也证实了游离胎儿DNA的存在。基因型结果与新生儿性别完全一致，无创胎儿性别鉴定的准确率为100%。
使用本研究中应用的策略进行胎儿性别鉴定是无创且高度准确的，可用于性连锁遗传病的管理。
