目的 探讨胎儿染色体多态性与妊娠结局的关系，为产前诊断染色体多态性的临床处置提供理论依据。方法 对 3325例具有穿刺指证的高危孕妇，根据其孕周大小确定行羊膜腔穿刺术或脐静脉穿刺术，抽取羊水或脐血经培养后制备染色体核型并进行分析，对诊断为染色体多态性的胎儿，其父母接受外周血染色体检查，并对1岁龄婴儿期生长发育情况进行跟踪随访。结果 3325例行胎儿染色体检查共检出多态性核型391例，其中383例多态性核型来自于父母其中一方，8例新生变异。随访发现313例胎儿孕中晚期及出生后1岁以内，未见明显生长发育异常；2例自然流产，1例早产夭折，1例因脑发育异常出生后夭折，1例出生后为法洛四联症，1例先心室缺，1例房缺，1例出生后因营养性缺铁死亡，1例出生后发育迟缓，1例出生后双侧无外耳，1例出生后新生儿足内翻，术后预后良好，1例新生儿唇腭裂，1例新生儿六指；31例失访。结论 胎儿染色体多态性大多来源于父母，可参照其父母辈的身体智力发育情况予以判断其妊娠结局，在此期间更重要的是孕期加强对于胎儿超声变化的监测。而新发生的胎儿多态性变异对其妊娠结局及今后的生长发育情况可能造成一定的负面影响，但其影响的具体机制及对应关系还有待进一步研究，同样需要孕期检测超声的变化。
Objective To explore the relationship between fetal chromosomal polymorphism and pregnancy outcomes and to provide the theory basis for clinical treatment of chromosome polymorphism in prenatal diagnosis. Method Having a puncture in 3325 cases of high-risk pregnant women. According to the gestational age for amniocentesis or cordocentesis，amniotic fluid samples or umbilical cord blood after culture preparation and karyotype analysis. And the peripheral blood chromosome was examined in the parents when the fetus was diagnosed with chromosome polymorphism. We also followed up the first year of the neonatal period growth situation of these fetuses. Results: 391 cases were found to be chromosomal polymorphism from 3325 fetal amniotic fluid cells，including 383 cases of karyotype polymorphism from one of their parents, 8 cases of neonatal follow-up variation. In the follow up visiting we found that 313 fetuses with no obvious abnormal growth and development during the middle-late pregnancy and the first year after birth; 2 cases of spontaneous abortion, 1 cases of premature, 1 cases of died due to abnormal brain development after birth , 1 cases of tetralogy of Fallot, 1 cases of ventricular defect, 1 cases of ASD, 1 cases of birth death due to nutritional iron deficiency, 1 cases of postnatal growth retardation after birth, 1 cases of without bilateral ear, 1 cases of strephenopodia after birth, which have a good prognosis after surgery， 1 cases of neonatal Cleft lip and palate, 1cases of neonates six fingers, and 31 lost visits. Conclusions Fetal chromosomal polymorphism is mostly derived from parents. We can judge the pregnancy outcome according to the physical and mental development of the parents. During this period, it is more important to monitor fetal ultrasound changes during pregnancy. The new fetal polymorphism may have a negative impact on the pregnancy outcome and future growth and development. However, the specific mechanism and the corresponding relationship need to be further studied, and we also need to detect the changes of ultrasound during pregnancy.
