Early prenatal diagnosis of lysosomal enzymopathies from biopsies of trophoblasts

: This study was undertaken to assess the reliability of trophoblastic biopsy for early ante-natal diagnosis (10 weeks) of lysosomal diseases, including glycogenoses, sphingolipidoses and mucopolysaccharidoses. The sensitivity and specificity were excellent. In addition, cell cultures of the trophoblastic material enable further confirmation of the diagnosis. The possibility of a diagnosis and a medical decision with regards to the outcome of pregnancy at the 10th week of gestation is a considerable advance compared to diagnostic amniocentesis between the 17th and 20th weeks. In our opinion, if a total deficit is observed, the decision to terminate the pregnancy can be taken; in partial deficits or in cases with normal activity, it is wise to confirm the diagnosis by amniocentesis.