Test & specimen information
Prenatal diagnosis
Overview
Prenatal diagnostic testing is available for women and couples who:
- have received a high chance screening result (eg from NIPT, or serum screening)
- have a known history of a single gene condition
- have a fetal anomaly on ultrasound.
Test type
Conventional G-banded karyotype (chromosome analysis)
Exome sequencing
Fluorescent in-situ hybridisation (FISH)
Genome-wide chromosome microarray (molecular karyotype)
Sanger sequencing
Turnaround time
FISH: 48 hrs
Karyotype (G-banded): 8-15 days
Microarray: 8-15 days
Single gene: 2-3 weeks
Exome: 3-6 weeks