Abstract
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.
Highlights
Molecular determination of fetal sex for management of the women at risk of X-linked recessive genetic diseases in the fetus or where there is a risk of diseases associated with ambiguous development of the external genitalia such as Congenital Adrenal Hyperplasia is clinically important [1, 2]
Non-invasive fetal sex determination is nowadays performed as a NIPT test to timely identify and manage high-risk cases of sexlinked genetic diseases
The present study was conducted in this regard and the results show the high accuracy of the method used for this number of samples
Summary
Molecular determination of fetal sex for management of the women at risk of X-linked recessive genetic diseases in the fetus (abnormality in the male fetus) or where there is a risk of diseases associated with ambiguous development of the external genitalia such as Congenital Adrenal Hyperplasia (abnormality in the female fetus) is clinically important [1, 2]. Noninvasive fetal sex determination by analyzing Y chromosome-specific sequences is very useful in the management of cases related to sex-linked genetic diseases. 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. 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
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