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Prenatal diagnosis of Chediak‐Higashi syndrome
Author(s) -
Diukman Rony,
Tanigawara Shingo,
Cowan Morton J.,
Golbus Mitchell S.
Publication year - 1992
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.1970121105
Subject(s) - chorionic villus sampling , amniocentesis , prenatal diagnosis , chédiak–higashi syndrome , medicine , amniotic fluid , fetus , chorionic villi , obstetrics , fetoscopy , pregnancy , in utero , andrology , pathology , biology , genetics
We report the first prenatal diagnosis of an affected fetus with Chediak‐Higashi syndrome (CHS). Diagnosis was accomplished via fetal blood sampling at 17 menstrual weeks and was confirmed after birth. Retrospective measurement of the largest acid phosphatase‐positive lysosomes in cultured amniotic fluid cells and chorionic villus cells showed that in CHS these lysosomes are significantly larger than those in normal cells. This method may be used for prenatal diagnosis of CHS by amniocentesis and chorionic villus sampling (CVS).