Abstract:Objective To investigate the relationships of transparent layer thickness of fetal neck in early pregnancy and serum serological markers in mid-pregnancy with pathological pregnancy. Methods A total of 5,000 cases of pregnant women, who had measurement of the thickness of the transparent layer of the fetal neck in the early pregnancy and Down's screening during the second trimester, were collected. The thickness of the neck transparent layer were determined in early pregnancy. The serum levels of alpha-fetoprotein (AFP), β-human chorionic gonadotropin (β-HCG) and free estriol (uE3) of the pregnant women were measured in the second trimester. Results The incidences of congenital malformations, premature birth and gestational diabetes mellitus in the neck transparent layer thickness anomaly group were higher than those in the normal group (P < 0.05). The incidences of fetal congenital malformations, premature labor, gestational diabetes mellitus, hypertensive disorder complicating pregnancy and premature rupture of membranes in the increased serum AFP group were higher than those of the normal serum AFP group (P < 0.05). The incidences of fetal congenital malformations in the increased and decreased serum β-HCG groups were higher than those in the normal group (P < 0.05). The incidences of premature delivery, gestational diabetes mellitus, hypertensive disorder complicating pregnancy and premature rupture of membranes in the increased serum β-HCG group were higher than those in the normal group (P < 0.05). The incidences of premature fetal death, preterm birth, gestational diabetes mellitus, hypertensive disorder complicating pregnancy and premature rupture of membranes in the decreased serum uE3 group were higher than those in the normal group (P < 0.05). The thickness of the transparent layer of the fetal neck was correlated to the serum levels of AFP, β-HCG and uE3 (P < 0.05). Conclusions The thickness of the transparent layer of fetal neck in the early pregnancy and the serum levels of AFP, β-HCG and uE3 in the second trimester are related to the pathological pregnancy.