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. 2021 Mar 29;12(4):501. doi: 10.3390/genes12040501
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