Many genetic abnormalities can be diagnosed before birth. Your health care provider may recommend genetic testing during your pregnancy if you or your partner have a family history of genetic disorders or if you have previously had a baby with a genetic abnormality.
Examples of genetic disorders that can be diagnosed before birth include
- Cystic Fibrosis (CF)
- Duchenne muscular dystrophy
- hemophilia A
- thalassemia
- sickle cell anemia
- polycystic kidney disease
- Tay-Sachs disease
- neural tube defects
- skeletal dysplasia
- chromosomal abnormalities
Prenatal carrier screening may include
- Cystic Fibrosis
- Spinal Muscular Atrophy (SMA)
- Fragile X
- Hemoglobinopathies/Thalassemias
Common tests on a pregnancy may include
- ultrasound scan
- first trimester screening test
- alpha-fetoprotein test (AFP) or multiple marker test (2nd trimester)
- non-invasive prenatal screening (NIPS)
- chorionic villus sampling (CVS)
- amniocentesis
- percutaneous umbilical blood sampling (withdrawing a small sample of the fetal blood from the umbilical cord)