与丈夫同型的地中海贫血孕妇的产前诊断结果、妊娠和新生儿结局

Prenatal diagnosis results and pregnancy/neonatal outcomes among couples with same type of thalassemia

目的探讨与丈夫同型的地中海贫血(地贫)孕妇的产前诊断结果、妊娠和新生儿结局。方法选择与丈夫同型的1069例地贫孕妇作为研究对象。收集所有病例的胎儿产前诊断结果、妊娠结局及新生儿指标。结果837例同型α地贫孕妇中,胎儿产前诊断为静止型α地贫140例(16.73%),轻型α地贫283例(33.81%),中间型α地贫117例(13.98%),重型α地贫93例(11.11%);225例同型β地贫孕妇中,胎儿产前诊断为轻型β地贫110例(48.89%),中间型或重型β地贫68例(30.22%);7例同型的αβ复合型地贫孕妇中,胎儿产前诊断为轻型α地贫、轻型β地贫复合静止型α地贫各2例(28.57%),轻型β地贫复合轻型α地贫、轻型β地贫复合中间型α地贫、中间型β地贫复合静止型α地贫各1例(14.29%)。所有胎儿产前诊断为重型α地贫的孕妇,以及92.65%产前诊断为中间型或重型β地贫的孕妇,均终止妊娠。中重型地贫组人工终止妊娠率高于对照组和轻型地贫组,剖宫产率高于轻型地贫组,低体重儿发生率高于对照组(均P<0.05)。结论通过对与丈夫同型的地贫孕妇进行产前诊断,有效阻止了重型地贫患儿的出生。胎儿中重型地贫或可影响妊娠及新生儿结局,应加强地贫孕妇围生期保健,做好产前诊断工作。

Objective To investigate the prenatal diagnosis results and pregnancy/neonatal outcomes among couples with same type of thalassemia.Methods A total of 1069 couples with same type of thalassemia were recruited as research subjects.The prenatal diagnosis results,pregnancy outcomes and neonatal indices were collected.Results Of 837 couples with same type ofα-thalassemia,140(16.73%),283(33.81%),117(13.98%)and 93(11.11%)fetuses were prenatally diagnosed as silentα-thalassemia,mildα-thalassemia,α-thalassemia intermedia andα-thalassemia major,respectively;of 225 couples with same type ofβ-thalassemia,110(48.89%)and 68(30.22%)fetuses were prenatally diagnosed as mildβ-thalassemia andβ-thalassemia intermedia/major,respectively;of 7 couples with same type ofα-thalassemia compoundβ-thalassemia,mildα-thalassemia and mildβ-thalassemia compound silentα-thalassemia were found prenatally in two(28.57%)fetuses each,and mildβ-thalassemia compound mildα-thalassemia,mildβ-thalassemia compoundα-thalassemia intermedia andβ-thalassemia intermedia compound silentα-thalassemia in one(14.29%)fetus each.Termination of pregnancy occurred in all pregnant women with prenatal diagnosis asα-thalassemia major and 92.65%of pregnant women with prenatal diagnosis asβ-thalassemia intermedia/major.The thalassemia intermedia/major group exhibited a higher rate of pregnancy termination than the control group and the mild thalassemia group,a higher rate of cesarean section than the mild thalassemia group,and a higher incidence rate of low birth weight than the control group(all P<0.05).Conclusion Conducting prenatal diagnosis among couples with same type of thalassemia can effectively prevent the birth of children with thalassemia major.Fetal thalassemia intermedia/major may affect pregnancy/neonatal outcomes,suggesting that perinatal care and prenatal diagnosis for pregnant women with thalassemia should be strengthened.