FPR |
False positive rate |
NIPT |
Non-invasive prenatal testing |
NIPD |
Non-invasive prenatal diagnosis |
SCA |
Sex chromosomal anomaly |
CMA |
Chromosomal microarray |
CES |
Clinical exome sequencing |
WES |
Whole exome sequencing |
WGS |
Whole genome sequencing |
CNV |
Copy number variant |
RAT |
Rare autosomal trisomy |
FTCS |
First trimester combined screening |
NT |
Nuchal translucency |
PPV |
Positive predictive value |
UPD |
Uniparental disomy |
CPM |
Confined placental mosaicism |
IUGR |
Intrauterine growth restriction |
CVS |
Chorionic villous sampling |
TFM |
True fetal mosaicism |
VUS |
Variants of uncertain significance |
SNP |
Single nucleotide polymorphism |
NGS |
Next-generation sequencing |
AI |
Artificial intelligence |