The prenatal diagnosis of the cerebro-hepato-renal syndrome of Zellweger.
The prenatal diagnosis of the cerebro-hepato-renal syndrome of Zellweger (CHRS) was made by assaying the levels of very long chain fatty acids (VLCFAs) in amniotic fluid cell cultures, obtained by amniocentesis at 16 1/2 weeks of pregnancy. The family-at-risk, because they had previously borne a child with CHRS, accepted these results as indications of an affected fetus, and chose to terminate the pregnancy at 20 1/2 weeks of gestation. The diagnosis was confirmed by the phenotype of the aborted fetus and the presence of markedly elevated levels of VLCFAs in fetal liver homogenates. The prenatal diagnosis of CHRS, which can now readily be determined from amniotic fluid cell cultures, is an important step in genetic counselling of families-at-risk for this disease.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D000653:Amniotic Fluid / Q000032:analysis*; D005227:Fatty Acids / Q000032:analysis*; D005260:Female; D005817:Genetic Counseling; D006529:Hepatomegaly / Q000175:diagnosis*; D006579:Heterozygote; D006801:Humans; D007690:Polycystic Kidney Diseases / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012306:Risk; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome
D005227:Fatty Acids