5hmCG |
5-hydroxymethylated CG dinucleotide |
β-hCG |
beta-human chorionic gonadotropin |
BMI |
body mass index |
cffDNA |
cell-free fetal DNA |
CPM |
confined placental mosaicism |
CVS |
chorionic villus sampling |
FF |
fetal fraction |
FN |
false negative |
FP |
false positive |
FQA |
fetal quantity assay |
GC% |
the proportion of G and C bases to all bases |
IG |
immunoglobulin |
IVF |
in vitro fertilization |
MA |
maternal age |
MAF |
minor allele frequency |
MALDI-TOF MS |
matrix-assisted laser desorption/ionization time-of-flight mass spectrometry |
MW |
maternal weight |
NATUS |
Next-Generation Aneuploidy Test Using SNPs |
NGS |
next-generation sequencing |
NIPT |
non-invasive prenatal testing |
NPC |
non-pregnant control |
PAPP-A |
pregnancy-associated plasma protein-A |
PAR |
pseudo-autosomal region |
PGT |
preimplantation genetic testing |
RT-PCR |
real-time poly chain reaction |
SCA |
sex chromosome aneuploidy |
SNP |
single-nucleotide polymorphism |
STR |
short tandem repeat |
T13/18/21 |
trisomy 13/18/21 |
TN |
trye negative |
TP |
true positive |
WG |
whole genome |
uCG |
unmodified CG dinucleotide |
VAFm
|
maternal variant allele fraction |
VAFp
|
paternal variant allele fraction |