Prenatal Diagnosis
Prenatal diagnosis contains features relating to the health of both the fetus and the parents [60].
Current methods including the combined test and invasive procedures (amniocentesis and chorionic villus sampling (CVS)) are being used to screen the fetus for chromosomal abnormalities pose a risk to mother and fetus [61]. In addition to the risk, the rate of abortion related to CVS and amniocentesis is 1.0 to 2.0% [62] and the false positive rate of combined test is 5.0-9.0% [63] and sometimes mothers with healthy fetuses may choose an unnecessary invasive diagnostic tests that lead to spontaneous abortion [64]. Therefore, replacing current invasive tests with Non Invasive Prenatal Diagnosis test (NIPD) would reduce risk and increase detection rate for the three most prevalent aneuploidies; Down’s syndrome (trisomy 21), Edwards’ syndrome (trisomy 18) and Patau’s syndrome (trisomy 13) [61]. The NIPT is based on the discovery of cell free fetal DNA (cffDNA) in maternal plasma which is detectable as early as 4 weeks gestation [46, 65], making it possible for NIPT to be accessible earlier in pregnancy in comparison with invasive methods [66]. cffDNA analysis with the NGS …show more content…
In the monogenic form, the mutation occur in a single gene but in polygenic or complex forms a series of polymorphic variants can be seen in several genes that the complex forms are the most common CVDs in clinical practice [70]. As previously mentioned NGS has been demonstrated to be successful in identifying novel causative mutations of rare or common Mendelian diseases like CVDs and can detect cardiomyopathy-causing mutations with high accuracy [71] because NGS is able to detect the rare genetic variants with a minor allele frequency (MAF) of < 5%, [72]. So, application of NGS tools in the inherited CVDs will be important to define the genetic component of these
Prenatal diagnosis contains features relating to the health of both the fetus and the parents [60].
Current methods including the combined test and invasive procedures (amniocentesis and chorionic villus sampling (CVS)) are being used to screen the fetus for chromosomal abnormalities pose a risk to mother and fetus [61]. In addition to the risk, the rate of abortion related to CVS and amniocentesis is 1.0 to 2.0% [62] and the false positive rate of combined test is 5.0-9.0% [63] and sometimes mothers with healthy fetuses may choose an unnecessary invasive diagnostic tests that lead to spontaneous abortion [64]. Therefore, replacing current invasive tests with Non Invasive Prenatal Diagnosis test (NIPD) would reduce risk and increase detection rate for the three most prevalent aneuploidies; Down’s syndrome (trisomy 21), Edwards’ syndrome (trisomy 18) and Patau’s syndrome (trisomy 13) [61]. The NIPT is based on the discovery of cell free fetal DNA (cffDNA) in maternal plasma which is detectable as early as 4 weeks gestation [46, 65], making it possible for NIPT to be accessible earlier in pregnancy in comparison with invasive methods [66]. cffDNA analysis with the NGS …show more content…
In the monogenic form, the mutation occur in a single gene but in polygenic or complex forms a series of polymorphic variants can be seen in several genes that the complex forms are the most common CVDs in clinical practice [70]. As previously mentioned NGS has been demonstrated to be successful in identifying novel causative mutations of rare or common Mendelian diseases like CVDs and can detect cardiomyopathy-causing mutations with high accuracy [71] because NGS is able to detect the rare genetic variants with a minor allele frequency (MAF) of < 5%, [72]. So, application of NGS tools in the inherited CVDs will be important to define the genetic component of these