Other fetal identifiers have been described which are based on epigenetic differences between fetus and mother. Therefore, a large panel of different markers need to be tested for each individual case. ![]() However, these methods are quite laborious since both biological parents need to be tested along with the plasma sample and not all SNPs and loci tested will be informative. Additional detection of paternally inherited sequences could be used to discriminate between a true negative result in case of a female pregnancy, or a false negative result in case of low levels of circulating cffDNA. Even though Y-chromosomal sequences can be detected using several different techniques with high sensitivity and specificity early in gestation, a positive result can only be obtained in pregnancies with a male fetus. Although the possibilities for using cffDNA in NIPD are numerous, they do require highly sensitive and specific techniques to detect the low levels of fetal sequences in the pool of maternal plasma DNA early in gestation.įor the detection and/or quantification of fetal DNA, many investigators have based their strategy on the detection of Y-chromosomal-specific sequences ( SRY and DYS14), or on the use of paternally inherited SNPs or polymorphic loci that are either absent or different in the mother –. ![]() Over the past years, the use of cell-free fetal DNA (cffDNA) for noninvasive prenatal diagnosis (NIPD) has proven its clinical potential in a wide range of fields.
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