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.