12.Grati FR, Barlocco A, Grimi B, Milani S, Frascoli G, Di Meco AM, et al. Chromosome abnormalities investigated by non-invasive prenatal testing account for approximately 50% of fetal unbalances associated with relevant clinical phenotypes. Am J Med Genet 2010;152A:1434-42. 13.Bianchi D...
Rhees B, Comstock D et al: Optimal detection of fetal chromosomal abnormalities by massively paralle...
[3] Sehnert AJ, Rhees B et al. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin Chem. 2011 Jul;57(7):1042-9. doi: 10.1373/clinchem.2011.165910. Epub 2011 Apr 25. [4]Fan HC, Quake SR.Sensitivity o...
Noninvasive prenatal testing (NIPT), sometimes called noninvasive prenatal screening (NIPS), is a method of determining the risk that the fetus will be born with certain genetic abnormalities.NIPT is most often used to look for chromosomal disorders that are caused by the presence of an extra ...
[3] Sehnert AJ, Rhees B et al. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood.Clin Chem. 2011Jul;57(7):1042-9. doi: 10.1373/clinchem.2011.165910. Epub 2011 Apr 25. ...
[3] Sehnert AJ,Rhees B et al. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin Chem. 2011 Jul;57(7):1042-9. doi:10.1373/clinchem.2011.165910. Epub 2011 Apr 25. ...
[3] Sehnert AJ, Rhees B et al. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin Chem. 2011 Jul;57(7):1042-9. doi: 10.1373/clinchem.2011.165910. Epub 2011 Apr 25. ...
(94.5%). Of 55 false-positive samples, 35 were caused by deletions/duplications present in maternal DNA, indicating the necessity of a validation test to exclude maternal karyotype abnormalities. This study shows that detection of fetal subchromosomal abnormalities is a viable extension of NIPT ...
Objective: To observe the application value of soft ultrasound marker prefrontal space ratio (PFSR) combined with non-invasive prenatal testing (NIPT) in screening fetal chromosomal abnormalities in early pregnancy. Methods: Eighty high-risk pregnant women who underwent amniotic fluid karyotyping in earl...
【14】Lo, K. K., et al. (2016). "Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities." Am J Hum Genet 98(1): 34-44. 【15】Lefkowitz, R. B., et al. (2016). "Clinical validation of a noninvasive prenatal test for genomewide detection of fetal...