对曾育21三体综合征患儿者行胚胎种植前遗传学诊断获妊娠1例

目的 在体外受精－胚胎移植过程中，对高危夫妇进行胚胎种植前遗传学诊断以避免21三体综合征患儿的出生。方法 常规激素替代治疗，对患者夫妇行胞母细胞质内精子注射（ICSI），正常受精培养到第3天，对6－10细胞期胚胎活检1个细胞，利用荧光原位杂交技术（FISH）进行胚胎种植遗传学诊断（PGD），挑选染色体数目正常的胚胎移植入患者子宫。结果 共对8个胚胎进行PGD，7个有诊断结果者中7个为正常胚胎、1个为21三体胚胎。挑选3个胚胎移植，获得妊娠并产下一健康男婴。结论 应用FISH对染色体数目的遗传疾病，如21三体综合征，进行胚胎种植前遗传学诊断是切实可行的。

Normal pregnancy in a woman having had a child with trisomy 21 syndrome before: application of preimplantation genetic diagnosis.]

OBJECTIVE: To study the value of preimplantation genetic diagnosis (PGD) before pregnancy for couples who are exposed to high risk of trisomy 21 syndrome in their progenies to obtain birth of healthy child by in vitro fertilization procedures. METHODS: Conventional hormone replacement treatment with intracytoplasmic sperm injection (ISCI) was administered for ovum fertilization. One or two cells (blastomeres) were aspirated from the preimplantation embryo that had grown to 6 to 10 cells (day 3 post fertilization) for PGD with fluorescence in situ hybridization (FISH), and 3 embryos with normal chromosome were transferred into the uterus. RESULTS: PGD was carried out in a total of 8 embryos with valid diagnoses in 7, of which 6 were identified as normal embryos and 1 had trisomy 21 syndrome. Pregnancy was obtained that resulted in the birth of a healthy baby. CONCLUSION: Detection of chromosomal abnormalities such as trisomy 21 syndrome is feasible for PGD with FISH.