If you have a family history of inheritable diseases, syndromes or disorders, two genetic screenings are typically recommended in early pregnancy–the cell-free DNA test (cfDNA or NIPT) and carrier screening.
Cell-free DNA test. By 10 weeks, small pieces of baby’s DNA can be found circulating in the mother’s blood. This DNA is collected through a blood draw and tested for abnormalities such as sickle cell disease, spinal muscle atrophy, fragile X, cystic fibrosis, down syndrome, trisomies, triploidy and other genetic anomalies.
Carrier screening. This screening analyzes genetics through a simple blood test. Results can tell you the probability of baby adopting certain autosomal recessive disorders.