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Mucolipidosis IV: Prenatal diagnosis by electron microscopy
Author(s) -
Kohn Gertrude,
Sekeles Eliezer,
Ar Judith,
Ornoy Asher
Publication year - 1982
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970020410
Subject(s) - mucolipidosis , prenatal diagnosis , amniotic fluid , fetus , pregnancy , obstetrics , medicine , psychomotor learning , pathology , lysosomal storage disease , in utero , andrology , chemistry , disease , biology , biochemistry , cognition , psychiatry , genetics , enzyme
Mucolipidosis IV (ML 1V) is a lysosomal storage disease presenting in infancy with cloudy cornea and psychomotor retardation. Our experience with 12 pregnancies at risk for ML IV, monitored by transmission electron microscopy (TEM) studies of cultured amniotic fluid cells, is presented. The prenatal diagnoses were confirmed in the 3 affected and the 8 un‐ affected pregnancies. In the one pregnancy where no definite diagnosis was reached the pregnancy was terminated. TEM examination of fetal tissues from this pregnancy showed no abnormal lysosomal storage bodies and a review of the cultured amniotic fluid cell sections revealed that the diagnosis of a normal fetus could have been made.