A new era of non-invasive prenatal genetic diagnosis: Exploiting fetal epigenetic differences

摘要

Down syndrome (trisomy 21) is one of the most common chromosomal abnormalities, resulting in mental retardation, stunted growth and unique facial characteristics (1). Today, prenatal diagnosis of trisomy 21 and other genetic mutations is typically performed through cytogenetic or DNA analyses using invasive techniques such as amniocentesis or chorionic villus sampling (Table 1). The acquisition of fetal material through these invasive techniques, although accurate, often carries an added risk of miscarriage or fetal malformations because of the procedure, particularly with chorionic villus sampling (2). The wait time for results may also prove lengthy, depending on when testing is carried out, leaving the decisions regarding the outcome of the pregnancy to be made following the first trimester, where the emotional and physical risks are greater (2). Therefore, many research efforts in recent years have been dedicated to developing less invasive and risky procedures for prenatal genetic testing.