Non-invasive prenatal tests are available for chromosomal aneuploidy but not for
monogenic diseases yet. This study aimed to develop analysis method for detecting fetal …

Non-Invasive Prenatal Testings (NIPT) for chromosomal aneuploidy are widely applied but
not yet for monogenic diseases. In this study, we have developed new analysis algorithms …

Noninvasive prenatal diagnosis (NIPD) has become a common, safe, and effective
procedure for detection of inherited diseases early in pregnancy. It is based on the analysis …

Background. With the development of massively parallel sequencing (MPS), noninvasive
prenatal diagnosis using maternal cell‐free DNA is fast becoming the preferred method of …

A supernumerary marker chromosome (SMC) is a supplementary chromosome that cannot
be characterized using conventional banding cytogenetic analysis (ISCN 2020). SMCs are …

Objective: To evaluate the diagnostic efficiency of copy number variation sequencing (CNV-
seq) to detect the deletion or duplication of DMD gene in prenatal diagnosis. Methods: A …

Noninvasive prenatal diagnosis (NIPD) is an emerging field, that enables testing for
diseases in the fetus with no risk to the pregnancy, compared to invasive methods (eg …

Next Generation Sequencing (NGS) technology is rapidly gaining ground in the field of
genetic diagnosis and research. The technology is currently used to diagnose chromosomal …

Background Prenatal diagnosis in pregnancies at risk of single-gene disorders is currently
performed using invasive methods such as chorionic villus sampling and amniocentesis …

Background: Non-invasive prenatal testing (NIPT) for fetal aneuploidies using cell-free DNA
(cfDNA) which can be isolated from mothers' plasma has been widely adopted in clinical …