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目的探讨孕母血浆同型半胱氨酸(Hcy)水平与胎儿出生缺陷的关系及其在产前筛查和产前诊断出生缺陷中的临床意义。方法根据产前诊断胎儿畸形并经引产或出生后证实为新生儿出生缺陷的孕妇51例为病例组,并按出生缺陷类型的不同分为先天性心脏畸形组(A组)、神经管畸形(B组)、唇腭裂组(C组)及其他畸形组(D组);另外随机选择无妊娠合并症的健康孕妇及其分娩新生儿30例为健康对照组,采用循环酶法测定孕妇及胎儿脐血Hcy水平。结果 1.病例组胎儿脐血血浆Hcy水平为(13.43±6.57)μmol·L-1,明显高于健康对照组[(6.30±1.38)μmol·L-1](t=5.687,P=0.000)。2.A、B、C、D组孕妇血浆Hcy水平分别为(12.22±4.60)μmol·L-1、(22.78±7.42)μmol·L-1、(11.24±3.42)μmol.L-1、(13.44±6.57)μmol.L-1,与健康对照组孕妇Hcy水平[(6.87±1.43)μmol·L-1]比较,差异有统计学意义(Pa=0.000)。3.孕妇与胎儿脐血Hcy水平呈正相关(r=0.922,P=0.000)。结论 1.母体高同型半胱氨酸血症是影响出生缺陷的危险因素之一,尤以先天性心脏畸形、神经管畸形及先天性唇腭裂为甚。2.血浆Hcy可作为产前筛查出生缺陷的筛查指标之一,孕母血浆Hcy>9.73μmol.L-1可考虑为高同型半胱氨酸血症,可能会发生出生缺陷,可作为产前诊断的指征之一。3.通过测定母亲血浆Hcy水平能预测胎儿Hcy水平。
Objective To investigate the relationship between maternal plasma homocysteine (Hcy) level and fetal birth defects and its clinical significance in prenatal screening and prenatal diagnosis of birth defects. Methods According to prenatal diagnosis of fetal malformations and confirmed by abortion or birth after birth as a newborn birth defects in 51 cases of cases, and according to the type of birth defects are divided into congenital heart malformation group (A group), neural tube defects B group), cleft lip and palate group (C group) and other deformity group (D group). In addition, 30 healthy pregnant women and their newborn infants born randomly without pregnancy complications were selected as healthy control group. Cord blood Hcy levels. Results 1. The Hcy level of cord blood in case group was (13.43 ± 6.57) μmol·L-1, which was significantly higher than that in healthy control group [(6.30 ± 1.38) μmol·L-1] (t = 5.687, P = 0.000) . The levels of plasma Hcy in pregnant women in groups A, B, C and D were (12.22 ± 4.60) μmol·L-1, (22.78 ± 7.42) μmol·L-1 and (11.24 ± 3.42) μmol.L-1, 13.44 ± 6.57) μmol.L-1, which was significantly different from that of healthy pregnant women [(6.87 ± 1.43) μmol·L-1] (Pa = 0.000). Pregnant women and fetal cord blood Hcy levels were positively correlated (r = 0.922, P = 0.000). Conclusion 1.Hypertrophic homocysteine is one of the risk factors of birth defects, especially congenital heart malformation, neural tube defects and congenital cleft lip and palate. Plasma Hcy can be used as one of screening indicators of prenatal screening for birth defects, maternal plasma Hcy> 9.73μmol.L-1 can be considered as homocysteinemia, may have a birth defect, can be used as One of the indications for prenatal diagnosis. 3. Hcy levels can be predicted by measuring maternal plasma Hcy levels.