These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Evaluation of possible first trimester prenatal diagnosis in lysosomal diseases by trophoblast biopsy.
    Author: Poenaru L, Kaplan L, Dumez J, Dreyfus JC.
    Journal: Pediatr Res; 1984 Oct; 18(10):1032-4. PubMed ID: 6593685.
    Abstract:
    The detection of enzymatic deficiency in cultured amniotic cells from second trimester pregnancies is presently used for prenatal diagnosis of lysosomal diseases. The possibility of obtaining and processing trophoblast tissue at 8-10 weeks of gestation would permit first trimester prenatal diagnosis. Using trophoblast tissue samples from normal fetuses before voluntary abortion and from placenta after therapeutic abortions of fetuses affected by several lysosomal diseases, we conclude that early diagnosis of lysosomal disorders would be possible.
    [Abstract] [Full Text] [Related] [New Search]