Diukman R, Tanigawara S, Cowan M J, Golbus M S
Department of Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco.
Prenat Diagn. 1992 Nov;12(11):877-85. doi: 10.1002/pd.1970121105.
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).
我们报告了第一例经产前诊断患有切-希二氏综合征（CHS）的患病胎儿。诊断是在孕17周时通过胎儿采血完成的，并在出生后得到证实。对培养的羊水细胞和绒毛膜绒毛细胞中最大的酸性磷酸酶阳性溶酶体进行回顾性测量发现，在CHS中，这些溶酶体明显大于正常细胞中的溶酶体。该方法可用于通过羊膜穿刺术和绒毛取样（CVS）对CHS进行产前诊断。
