Autosotnal Recessive Type SCID and Prenatal Diagnosis: Case Report
Makaleler > Tam Makale · 2008
Yazarlar: Huseyin Onay, Ferda Ozkinay, Muhsin Özgür ÇOĞULU, Necil Kutukculer, Sermet SAĞOL, Cihangir Ozkinay
EUROPEAN JOURNAL OF THERAPEUTICS, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Wos, 2008, cilt 14, ss 47-49
Özet
Severe Combine Immune Deficiency (SCID), consists of group of genetic disorders characterized by recurrent infections due to deficiency in T cell. B cell or both lymphocyte groups. A 32-year old pregnant mother was referred to us at the 17th week of the gestation. The parents were :first cousins. Two previous children (5-mouth old boy, 3-month old girt) of the family died from SCID. Because of the advanced gestational age and the absence of molecular analysis, an alternative diagnosis was planned for prenatal diagnosis. Cordocentesis was performed at the 20th week of gestation and T and B lymphocyte levels were assessed. Lymphocyte culture and fetal. karyotype were performed in order to understand whether there were lymphocytes circulating. Regarding the lymphocytes distribution according to their immunological markers and the availability of fetal. karyotype from lymphocyte culture, the fetus was considered to be normal.