Prenatal diagnosis of β-thalassemia and other hemoglobinopathies in southwestern Turkey.
Our aim was to evaluate the prenatal diagnosis of β-thalassemia (β-thal) and other hemoglobinopathies in a region with high frequency. After detection by premarital or antenatal screening, 312 patients underwent 420 prenatal diagnostic procedures for 407 fetuses in a 10-year period. Fetal samples were collected by chorionic villi sampling (CVS) in the first trimester and amniocentesis and cordocentesis in the second trimester. Mutation analyses of β-globin and cytogenetic analyses were performed and the most common mutations detected were: IVS-I-110 (G>A), IVS-II-1 (G>A), IVS-I-6 (T>C) and IVS-II-745 (C>G). Hb S [β6(A3)Glu→Val, GAG>GTG)] was the most common hemoglobin (Hb) variant with a frequency of 6.3%. Among 407 fetuses, 105 (25.8%) were diagnosed as affected, while 201 (49.4%) were carriers and 101 (24.8%) were normal. Cytogenetic analyses revealed nine fetuses (2.3%) with numerical chromosomal abnormalities as regular or mosaicism. Prenatal diagnosis of common hemoglobinopathies is safe and effective. Performing cytogenetic analysis in excess fetal material is an acceptable option.
Department of Obstetrics and Gynecology, School of Medicine, Akdeniz University, Antalya, Turkey. imendilcioglu@yahoo.com
Inanc
I
Mendilcioglu
Sezin
S
Yakut
Ibrahim
I
Keser
Mehmet
M
Simsek
Akif
A
Yesilipek
Gulseren
G
Bagci
Guven
G
Luleci
D000649:Amniocentesis; D000755:Anemia, Sickle Cell / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D015193:Chorionic Villi Sampling; D003062:Codon; D017218:Cordocentesis; D020732:Cytogenetic Analysis; D005260:Female; D005333:Fetus; D005820:Genetic Testing; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006801:Humans; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D014421:Turkey; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*
D003062:Codon; D006451:Hemoglobin, Sickle; D055544:beta-Globins