Increased level of second trimester maternal serum chorionic gonadotropin in pregnancy with a fetus affected by homozygous alpha-thalassemia 1.
With enzyme immunoassay, maternal serum chorionic gonadotropin (MShCG) level was determined in 58 pregnancies affected with fetal homozygous alpha-thalassemia 1. In 40 pregnancies with a gestational age of 10 to 14 weeks, 8 (20%) had an MShCG level above 2.5 multiples of the median (MoM); while in the other 18 pregnancies with a gestational age of 15 to 23 weeks, 14 (78%) had a level above 2.5 MoMs and none had a level below the median. Homozygous alpha-thalassemia 1 of the fetus was associated with an elevated MShCG. Therefore in second-trimester screening for Down's syndrome by measurement of MShCG, homozygous alpha-thalassemia 1 should also be considered if elevated MShCG levels are found.
Department of Medical Genetics, College of Medicine, National Taiwan University, Taipei, Republic of China.
L H
LH
Tseng
H L
HL
Hwa
S M
SM
Chuang
T Y
TY
Lee
T M
TM
Ko
D000328:Adult; D006063:Chorionic Gonadotropin / Q000097:blood*; D005260:Female; D005820:Genetic Testing; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D012307:Risk Factors; D017085:alpha-Thalassemia / Q000097:blood / Q000175:diagnosis / Q000235:genetics*
D006063:Chorionic Gonadotropin