TY - JOUR
T1 - Screening for Fetal Aneuploidy and Sex Chromosomal Anomalies in a Pregnant Woman With Mosaicism for Turner Syndrome—Applications and Advantages of Cell-Based NIPT
AU - Jeppesen, Line Dahl
AU - Hatt, Lotte
AU - Singh, Ripudaman
AU - Schelde, Palle
AU - Andreasen, Lotte
AU - Markholt, Sara
AU - Lildballe, Dorte L.
AU - Vogel, Ida
N1 - Publisher Copyright:
© Copyright © 2021 Jeppesen, Hatt, Singh, Schelde, Andreasen, Markholt, Lildballe and Vogel.
PY - 2021/9
Y1 - 2021/9
N2 - Background: Cell-free NIPT and cell-based NIPT are risk-free testing options using maternal blood samples to screen for fetal aneuploidies, but the methods differ. For cell-free NIPT, the fetal fraction of cell-free DNA in plasma is analyzed with a high background of maternal DNA. In contrast, for cell-based NIPT, a limited number of the rare, intact fetal cells are isolated for the genetic analysis. This case demonstrates the differences regarding testing for fetal sex-chromosomes anomalies (SCAs) between these two tests. Materials and Methods: A pregnant woman with mosaicism for Turner syndrome opted for NIPT in first trimester. For the cell-free NIPT analysis, DNA extraction, genome-wide massive parallel sequencing, and data analysis were carried out as described by the kit manufacturer (Illumina
AB - Background: Cell-free NIPT and cell-based NIPT are risk-free testing options using maternal blood samples to screen for fetal aneuploidies, but the methods differ. For cell-free NIPT, the fetal fraction of cell-free DNA in plasma is analyzed with a high background of maternal DNA. In contrast, for cell-based NIPT, a limited number of the rare, intact fetal cells are isolated for the genetic analysis. This case demonstrates the differences regarding testing for fetal sex-chromosomes anomalies (SCAs) between these two tests. Materials and Methods: A pregnant woman with mosaicism for Turner syndrome opted for NIPT in first trimester. For the cell-free NIPT analysis, DNA extraction, genome-wide massive parallel sequencing, and data analysis were carried out as described by the kit manufacturer (Illumina
KW - cell-based noninvasive prenatal testing
KW - extravillous trophoblast
KW - non-invasive prenatal testing
KW - sex chromosomal aneuploidies
KW - turner mosaic
UR - http://www.scopus.com/inward/record.url?scp=85116023794&partnerID=8YFLogxK
U2 - 10.3389/fgene.2021.741752
DO - 10.3389/fgene.2021.741752
M3 - Journal article
C2 - 34594364
AN - SCOPUS:85116023794
SN - 1664-8021
VL - 12
JO - Frontiers in Genetics
JF - Frontiers in Genetics
M1 - 741752
ER -