Skip to main content
. 2021 Jan 28;11(2):98. doi: 10.3390/life11020098

Table 2.

Clinical performance of rCNV-seq for detection of CNVs in 217 amniotic fluid samples.

Primary Indication for Chromosome Testing Sample (n) rCNV-Seq Result
Abnormal Normal
Advanced Maternal Age (≥35 Years) 152 4 (T21) 148
Abnormal serum screening result (<35 years) 41 2 (T21 and 47,XXX) 39
Previously given birth to child with a chromosomal disorder 8 1 (T18) 7
Structural abnormality by ultrasound 7 1 (T21) 6
One parent is a carrier of a chromosomal disorder 2 0 2
Advanced maternal age (≥35 years) and secondary indication # 7 0 7
Total 217 8 209

# Secondary indications included abnormal serum screening result, previously given birth to child with a chromosomal disorder, structural abnormality by ultrasound or one parent is a carrier of a chromosomal disorder.