The diagnosis of Trisomy 13 can be made prenatally or postnatally. Prenatal diagnosis includes:
- Ultrasound: Abnormal findings may prompt further testing. - Non-invasive Prenatal Testing (NIPT): Analyzes fetal DNA in maternal blood. - Amniocentesis: A sample of amniotic fluid is taken to analyze fetal chromosomes. - Chorionic Villus Sampling (CVS): A sample of placental tissue is tested.
Postnatal diagnosis is confirmed by a karyotype analysis of the babyâs blood.