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| Research progress of non-invasive prenatal testing in the screening of sex chromosomal diseases |
| General Hospital of Tianjin Medial University, Tianjin Key Laboratory of Female Reproductive Health and Eugenics, Tianjin, 300052 |
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Abstract Non-invasive prenatal testing（NIPT）is used to screen fetal chromosomal aneuploidies through high-throughput sequencing technology with cell-free fetal DNA in maternal plasma, which has the advantage of high sensitivity and specificity with low false positive rate, thus, it is widely used in the screening of chromosomal aneuploidy. Compared with other chromosomal disorders, sex chromosome disorders are rare. NIPT can detect fetal sex chromosome abnormalities, and can predict the fetal outcomes, so as to reduce the incidence of birth defects. The accuracy of NIPT for screening trisomy 13, trisomy 18, or trisomy 21 is reliable, however, there are few studies on the screening fetal sex chromosome diseases by NIPT. To provide evidences for the application of NIPT for screening sex chromosome disorders, this article reviews the clinical research progress and influencing factors of NIPT for screening sex chromosome disorders.
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