Prenatal Indications for Genetic Testing

  1. Age ≥ 35 years at the time of delivery for singleton pregnancy

  2. Age ≥ 33 years at the time of delivery for twin pregnancy

  3. Partner is a close blood relative of partner (consanguineous union ie first cousins or closer)

  4. An abnormal NIPT, first or second-trimester maternal serum +/- abnormal or nuchal translucency or absent nuchal bone.

  5. Exposure to teratogenic or potentially teratogenic agent during gestation such as radiation, high-risk infection, drugs, medication, alcohol, etc

  6. Fetal anomaly identified through ultrasound or echocardiography

  7. Personal or family history of pregnancy complications known to be associated with genetic factors such as acute fatty liver of pregnancy

  8. Either partner with a positive carrier screening test for cystic fibrosis, sickle cell, Tay Sachs, etc 

  9. Personal history of stillbirth, a child with hydrops, 2 or more first-trimester pregnancy losses, or a child with sudden infant death syndrome

  10. Either partner has a genetically determined condition

  11. Personal or family history of a birth defect such as cleft palate, spina bifida, or a congenital heart defect

  12. Personal or family history of significant and/or early onset hearing or vision loss  

  13. Personal or family history of developmental delay, intellectual disability, or autism

  14. Personal or family history of chromosomal abnormality such as trisomy, translocation, mosaicism