三代试管婴儿成功案例全记录：38岁染色体平衡易位患者圆梦之旅

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三代试管婴儿成功案例全记录：38岁染色体平衡易位患者圆梦之旅
一、患者背景

林女士，38岁，婚龄7年，自然流产3次（孕8周胎停2次，孕12周胎停1次）
检查发现：

• 染色体核型分析：46，XX，t(5;11)(q22;q23)平衡易位
• AMH值：1.2ng/ml（卵巢储备下降）
• 丈夫精液分析：正常范围
  
  

二、诊疗时间轴

第一阶段：遗传咨询（2022年3月）

• 在遗传门诊完成家系分析：
  
  
  • 父亲为相同易位携带者（证实为家族遗传性）
  • 自然妊娠健康胎儿概率仅1/18
    
    
• 遗传学家建议：
  • 需进行PGT-SR（结构异常植入前基因检测）
  • 预估需要2-3个促排周期累积胚胎
    
    
  
  

第二阶段：促排卵周期（2022年5-8月）
周期1（拮抗剂方案）

• 用药：果纳芬225IU+Menopur75IU
• 监测：第6天出现主导卵泡（调整方案为双腔取卵）
• 结果：
  • 获卵8枚 → 成熟卵子6枚 → 正常受精4枚
  • 培养至第5天：2枚囊胚（4BB、3BC）
  • PGT-SR检测：1枚完全正常（4BB），1枚携带易位
    
    
  
  

周期2（微刺激方案）

• 用药：克罗米芬+小剂量HMG
• 结果：
  • 获卵5枚 → 成熟卵子4枚 → 正常受精3枚
  • 培养至第5天：1枚囊胚（4BC）
  • PGT-SR检测：不健康（染色体片段缺失）
    
    
  
  

第三阶段：冻胚移植（2022年10月）

• 子宫内膜准备：
  
  
  • 人工周期：补佳乐6mg/天（内膜增长至9.5mm）
  • 添加阿司匹林+低分子肝素（预防血栓）
    
    
• 移植过程：
  • 解冻4BB囊胚（存活率100%）
  • 胚胎胶辅助定位移植
    
    
• 黄体支持：
  • 黄体酮针剂60mg/天+雪诺酮凝胶
    
    
  
  

三、妊娠监测关键节点

• 移植第12天：HCG 358mIU/ml
• 孕6周：B超见胎心胎芽（孕囊旁出血灶，加强黄体支持）
• 孕12周：NT检查1.8mm，无创DNA低风险
• 孕20周：大排畸显示胎儿发育符合孕周
• 孕32周：开始胎心监护（每周2次）
• 孕38周+5：剖宫产分娩健康女婴（3250g，Apgar评分10分）
  
  

四、技术细节解析

• PGT-SR特殊处理：
  
  
  • 采用SNP芯片技术（分辨率达1Mb）
  • 针对5q22和11q23区域设计探针
  • 同时筛查其他染色体非整倍体
    
    
• 胚胎实验室关键操作：
  • 卵子激活技术（ICSI后钙离子载体处理）
  • 时差培养箱（EmbryoScope+）持续监测
  • 辅助孵化（激光削薄透明带）
    
    
  
  

五、总费用明细（人民币）

• 基因检测相关：
  
  
  • PGT-SR检测（3枚囊胚） 24，000
  • 家系验证 6，000
    
    
• 医疗费用：
  • 促排卵周期（2次） 38，000
  • 胚胎培养/冷冻 15，000
  • 移植手术 8，000
    
    
• 药物费用：
  • 促排药物 26，000
  • 黄体支持药物 12，000
    总计：129，000元（医保报销部分促排药物）
    
    
  
  

六、患者感言

"经历了3次胎停后，我们几乎放弃希望。直到遇见三代试管技术，才知道原来医学已经可以精准筛选健康胚胎。虽然打了100多针，但每次复查听到宝宝有力的心跳，所有的付出都值得。特别感谢胚胎师主任，是她发现我们有个胚胎在培养第5天下午才缓慢形成囊胚，差点被淘汰，现在这个'慢宝宝'已经健康出生了！"

七、专家点评（生殖中心主任医师）

"这个案例典型展示了三代试管的价值：

• 将反复流产率从95%降至正常水平
• 突破染色体异常传递的遗传壁垒
• 高龄+卵巢储备下降仍可通过累积周期获得成功
  需要强调的是，胚胎培养过程中的动态评估至关重要，有些胚胎发育稍慢但质量依然良好。"
  
  

1、 Patient background
Ms. Lin, 38 years old, married for 7 years, has had 3 natural abortions (2 at 8 weeks of pregnancy and 1 at 12 weeks of pregnancy)
Inspection found that:
Chromosome karyotype analysis: 46, XX, t (5; 11) (q22; q23) balanced translocation
AMH value: 1.2ng/ml (decreased ovarian reserve)
Husband's semen analysis: normal range
2、 Diagnosis and treatment timeline
Phase 1: Genetic Counseling (March 2022)
Complete family analysis at the genetic clinic:
Father is a carrier of the same translocation (confirmed as familial inheritance)
The probability of a healthy fetus during natural pregnancy is only 1/18
Geneticists suggest:
PGT-SR (pre implantation genetic testing for structural abnormalities) is required
Expected to require 2-3 cycles of ovulation induction to accumulate embryos
Phase 2: Ovulation induction cycle (May August 2022)
Cycle 1 (antagonist regimen)
Medication: Gonafen 225IU+Menopur 75IU
Monitoring: On the 6th day, dominant follicles appeared (adjusted to double chambered oocyte retrieval)
result:
Obtained 8 eggs → Mature 6 eggs → Normal fertilization 4 eggs
Cultivate until day 5: 2 blastocysts (4BB, 3BC)
PGT-SR test: 1 completely normal (4BB), 1 carrying translocation
Cycle 2 (Microstimulation Program)
Medication: Clomiphene+low-dose HMG
result:
Obtain 5 eggs → Mature 4 eggs → Normal fertilization 3 eggs
Cultivate until day 5: 1 blastocyst (4BC)
PGT-SR testing: unhealthy (chromosome fragment deletion)
Phase 3: Frozen Embryo Transfer (October 2022)
Endometrial preparation:
Artificial cycle: Bu Jia Le 6mg/day (inner membrane grows to 9.5mm)
Add aspirin+low molecular weight heparin (to prevent thrombosis)
Transplantation process:
Thaw 4BB blastocysts (100% survival rate)
Embryo glue assisted localization transplantation
Luteal support:
Progesterone injection 60mg/day+chenolone gel
3、 Key nodes of pregnancy monitoring
On the 12th day of transplantation: HCG 358mIU/ml
6 weeks of pregnancy: B-ultrasound shows fetal heart and fetal bud (bleeding lesion near the gestational sac, strengthened corpus luteum support)
12 weeks of pregnancy: NT test 1.8mm, non-invasive DNA low-risk
Pregnancy at 20 weeks: Large screening shows fetal development consistent with gestational age
32 weeks of pregnancy: Start fetal heart monitoring (twice a week)
Pregnancy at 38 weeks+5: Cesarean delivery of healthy baby girl (3250g, Apgar score 10)
4、 Technical Detail Analysis
PGT-SR special treatment:
Adopting SNP chip technology (resolution up to 1Mb)
Design probes for 5q22 and 11q23 regions
Simultaneously screening for other chromosomal aneuploidy
Key operations in embryo laboratory:
Egg activation technology (calcium ion carrier treatment after ICSI)
Continuous monitoring of time difference incubator (EmbryoScope+)
Assisted hatching (laser thinning of transparent tape)
5、 Total Cost Details (RMB)
Genetic testing related:
PGT-SR testing (3 blastocysts) 24000
Family verification 6000
Medical expenses:
Ovulation cycle (2 times) 38000
Embryo culture/freezing 15000
Transplant surgery 8000
Drug costs:
Excretive drugs 26000
Luteal support drug 12000
Total: 129000 yuan (partially reimbursed by medical insurance for promoting ovulation drugs)
6、 Patient feedback
After experiencing three fetal stoppages, we almost gave up hope. It wasn't until we met the third-generation test tube technology that we realized that medicine could accurately screen healthy embryos. Although we received more than 100 injections, every time we checked and heard the baby's strong heartbeat, all the efforts were worth it. Special thanks to Director Wang, the embryologist, who discovered that one of our embryos slowly formed a blastocyst on the fifth day of cultivation, almost being eliminated. Now this' slow baby 'has been born healthy
7、 Expert Review (Chief Physician of Reproductive Center)
This case exemplifies the value of third-generation test tubes:
Reduce the recurrent miscarriage rate from 95% to normal levels
Breaking through the genetic barriers of chromosome abnormality transmission
Old age and decreased ovarian reserve can still achieve success through cumulative cycles
It should be emphasized that dynamic evaluation during embryo culture is crucial, as some embryos may develop slightly slower but still have good quality. "