Simultaneous detection of fetal aneuploidies and single gene diseases by
a novel method of noninvasive prenatal testing: Targeted And Genome-wide
simultaneous sequencing (TAGs-seq)
Abstract
Objective: To simultaneously detect fetal aneuploidies and single gene
diseases using a novel noninvasive prenatal testing (NIPT) method called
the Targeted And Genome-wide simultaneous sequencing (TAGs-seq). Design:
Comparison of TAGs-seq NIPT results with conventional NIPT and
diagnostic results. Setting: Shenzhen People’s Hospital and Chinese PLA
General Hospital Population or Sample: 26 normal pregnancies, 7
pregnancies with fetal aneuploidies, 7 pregnancies with fetal
achondroplasia (ACH) or thanatophoric dysplasia (TD), 18 pregnancies
with ACH/TD-like ultrasound findings, and 10 pregnancies with fetal risk
of beta-thalassemia. Methods: Plasma cfDNA was amplified by TAGs-seq to
simultaneously obtain the whole-genome sequence of 0.1-3× depth and
reads on target genes of >1000× depth. The whole-genome
sequence was analyzed for fetal aneuploidy risk using a binary
hypothesis T-score, and the reads on target genes were analyzed for
single gene diseases by calculating minor allelic frequency of loci on
FGFR3 and HBB. Main Outcome Measures: Concordance between the TAGs-seq
NIPT, conventional NIPT and diagnostic results. Results: Consistent to
conventional NIPT and diagnostic results, all cases of fetal
aneuploidies and fetal ACH/TD were correctly identified from 58
pregnancies by TAGs-seq NIPT with high sensitivities and specificities.
Two cases of paternal mutations of beta-thalassemia were correctly
identified by TAGs-seq NIPT from 10 pregnancies, although one
false-negative result was obtained. Conclusions: The TAGs-seq assay
demonstrated a good potential to simultaneously detect fetal
aneuploidies and single gene diseases as a novel NIPT method.