Prenatal diagnosis of succinate semialdehyde dehydrogenase deficiency in non-identical twins.
Prenatal diagnosis was performed by both DNA and enzymatic analysis on non-identical twins conceived by in vitro fertilization and at risk of succinate semialdehyde dehydrogenase deficiency. One fetus was predicted to be affected and one unaffected and selective fetal reduction was performed.
Aligianis
I A
IA
Clinical Genetics, Birmingham Woman's Hospital, Birmingham, UK.
Farndon
P A
PA
Gray
R G F
RG
Heath
S K
SK
Kilby
M
M
Gibson
K M
KM
Akaboshi
S
S
D000328:Adult; D000445:Aldehyde Oxidoreductases / Q000172:deficiency*; D000483:Alleles; D015193:Chorionic Villi Sampling; D005260:Female; D005307:Fertilization in Vitro; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D050644:Succinate-Semialdehyde Dehydrogenase; D014429:Twins, Dizygotic
D000445:Aldehyde Oxidoreductases; C493643:ALDH5A1 protein, human; D050644:Succinate-Semialdehyde Dehydrogenase