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Differential Diagnosis For Amniocentesis/Chorion villi enzyme assay/abnormal


List of current finding(s):

Metabolic, Storage Disorders
Tay-Sachs disease
Acyl-CoA Dehydrogenase/short chain def
Fabrys disease/Angiokeratatosis (trihexose ceramide)
Hyperglycinemia, nonketotic
LCHAD/Long chain OH-CoA dehydrogenase def
MCAD/Medium chain OH-CoA Dehydrogenase def
VLCHAD/Very Long chain OH-CoA dehydrogenase def
Gangliosidosis, generalized (GM1)
Gaucher's disease
Niemann-Pick disease
Congenital, Developmental Disorders
Down's Syndrome
Cri du Chat/Chromosome 5p (5p15.2)
Chromosome ,long arm 21 deletion
Chromosome 4p-syndrome
Chromosome XXXXX Syndrome
Chromosome XXXXY Syndrome
Chromosome, long-arm 18 deletion synd
Chromosome, ring D syndrome
Trisomy 13 syndrome
Hereditary, Familial, Genetic Disorders
Granulomatous dis/childhood, chronic
Osteogenesis imperfecta
Abnormal, Amniocenteses, Amniocentesis, Amniocentesis (procedure), Amniocentesis diagnostic, AMNIOCNTS DX, Chorionic villi, Chorionic villi structure, Chorionic villi structure (body structure), Chorionic Villus, Diagnostic amniocentesis, Diagnostic amniocentesis (procedure), Incision and drainage of amnion, Placental Villi, Placental villus, Placental villus (body structure), Villi Chorionic, Villi Placental, Villus Chorionic, Villus Placental
External Links Related to Amniocentesis/Chorion villi enzyme assay/abnormal
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)