[The first case of prenatal diagnosis of sickle cell anemia in the USSR].
A married couple with a risk to have a child with sickle-cell anemia has been detected as a result of mass screening of pregnant women in Baku. The prenatal diagnosis was made on the 26th week of pregnancy by means of chordocentesis and biosynthesis of globin chains that revealed the absence of normal beta-globin chain synthesis in the presence of beta S. The diagnosis of sickle-cell anemia was confirmed after abortion in the fetal blood material obtained from the heart by isoelectro-focussing. The family has received a recommendation on the prenatal DNA-diagnosis in the first trimester on the next pregnancy.
Kuliev
A M
AM
Mazurova
O L
OL
Biriukov
V B
VB
Rasulov
Z M
ZM
Kitaeva
I E
IE
Matveeva
E V
EV
Tokarev
Iu N
IuN
D000328:Adult; D000755:Anemia, Sickle Cell / Q000097:blood / Q000175:diagnosis*; D002852:Chromatography, Ion Exchange / Q000379:methods; D005260:Female; D005312:Fetal Blood / Q000032:analysis*; D006451:Hemoglobin, Sickle / Q000032:analysis*; D006801:Humans; D007525:Isoelectric Focusing / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012426:Russia
D006451:Hemoglobin, Sickle
Pervyĭ sluchaĭ prenatal'noĭ diagnostiki serpovidnokletochnoĭ anemii v SSSR.