Amniocentesis
Alternative names:
culture - amniotic cells; cultures - amniotic cells
Normal values:
The analysis shows no defects in the chromosomes and no excess of alpha fetoprotein (a protein produced by the fetus) or bilirubin.
What abnormal results mean:
Amniocentesis can be used to diagnose a large number of genetic and chromosomal abnormalities in the fetus. In addition, it is helpful in the diagnosis of the severity of Rh incompatibility, lung maturity, and neural tube defects (such as spina bifida).
Some of the diseases for which DNA testing is available include:
- abetalipoprotenemia
- acatalasemia
- Acyl-CoA oxidase deficiency
- alpha 1-antitrypsin deficiency
- alpha thallasemia and beta thallasemia
- Bloom disease
- Canavan disease
- Duchenne muscular dystrophy
- Fabry disease
- familial dysautonomia
- Farber disease
- Fragile X syndrome
- G6PD (glucose 6 phosphate dehydrogensae deficiency)
- Gaucher disease
- GM1 gangliosidosis
- Hemophilia
- Hunter syndrome (MPS-2)
- Huntington chorea
- Hurler syndrome (MPS-1H)
- Krabbe disease
- Lesch-Nyhan syndrome
- maple syrup urine disease
- Maroteaux-Lamy syndrome (MPS-6)
- Metachromatic leukodystrophy
- Morquio syndrome (MPS-4)
- Mucolipidosis (ML-1)
- Mucolipidosis (ML-2)
- Mucolipidosis (ML-3)
- Mucolipidosis (ML-4)
- Multiple sulfatase deficiency
- Niemann-pick disease
- phenylketonuria
- Pompe disease (GSD 2a)
- GCD4
- GSD3
- retinoblastoma
- Sanfilippo syndrome (MPS-3)
- Scheie syndrome (MPS-1S)
- Sickle cell disease
- Tay-Sachs
- tyrosenemia type 1
- Wolman disease
- X-linked adrenoleukodystrophy
Update Date: 02/09/00
Updated by: J. Gordon Lambert, MD, Associate Medical Director,
Utah Health Informatics and adam.com
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