Amniocentesis can detect a range of birth defects, including chromosomal abnormalities, genetic disorders, and neural tube defects.
Chromosomal Abnormalities
Amniocentesis can identify chromosomal abnormalities such as:
- Down syndrome: This is a genetic disorder caused by an extra copy of chromosome 21.
- Trisomy 18 (Edwards syndrome): This is a genetic disorder caused by an extra copy of chromosome 18.
- Trisomy 13 (Patau syndrome): This is a genetic disorder caused by an extra copy of chromosome 13.
- Turner syndrome: This is a genetic disorder that affects females and is caused by a missing or incomplete X chromosome.
- Klinefelter syndrome: This is a genetic disorder that affects males and is caused by an extra X chromosome.
Genetic Disorders
Amniocentesis can also detect various genetic disorders, including:
- Cystic fibrosis: This is a genetic disorder that affects the lungs and digestive system.
- Sickle cell anemia: This is a genetic disorder that affects red blood cells.
- Spinal muscular atrophy (SMA): This is a genetic disorder that affects the muscles.
- Tay-Sachs disease: This is a genetic disorder that affects the nervous system.
- Duchenne muscular dystrophy: This is a genetic disorder that affects the muscles.
Neural Tube Defects
Amniocentesis can help detect neural tube defects, such as:
- Anencephaly: This is a birth defect in which a baby is born without parts of the brain and skull.
- Spina bifida: This is a birth defect in which the spinal cord does not close completely during pregnancy.
Other Conditions
In addition to the above, amniocentesis can also detect other conditions such as:
- Rh incompatibility: This is a condition where the mother is Rh-negative and the baby is Rh-positive.
- Fetal infections: Amniocentesis can detect infections that may be affecting the fetus.
It is important to note that amniocentesis is not a perfect test and may not detect all birth defects.
