Service Gene Disorder Testing

 

Preimplantation Genetic Diagnosis (PGD)

For Single Gene Disorders

胚胎植入前遗传学诊断单基因遗传诊断

 

Preimplantation Genetic Diagnosis (PGD) using NGS checks for single gene disorders when parents carry the condition and thus at risk of transmitting to their children. PGD allows us to select embryos free of a specific known disorder prior to implantation and pregnancy.

PGD,即胚胎植入前遗传学诊断,主要针对夫妻双方或一方有基因遗传疾病或风险的问题。在移植前,利用高通量测序技术对胚胎进行检测,选择无携带遗传性疾病的胚胎移植入女方子宫。为有遗传性疾病的夫妇提供生育健康孩子的机会,避免该基因疾病或异常基因遗传给下一代。

 

 

Possible candidates for PGD 

胚胎植入前遗传学诊断单基因遗传诊断适用于:

 

  • Carriers of single gene disorders 单基因疾病携带者
  • Couples who have a child/children affected by a single gene disorder 已育孩子受单基因疾病影响的夫妇
  • Couples who have a family history of a single gene disorder 有单基因遗传家族史的夫妇

 

Example of common single gene disorders in Asia

亚洲常见的单基因病

 

                      Disorders     Disorders (in Chinese)
Alpha Thalassemia  α-地中海贫血
Beta Thalassemia  β-地中海贫血
Hemophilia A (F8)  血友病A型
Hemophilia B (F9) 血友病B型
Autosomal Dominant Polycystic Kidney disorders (ADPKD) 常染色体显性多囊肾病
Autosomal Recessive Polycystic Kidney disorders (ARPKD) 常染色体隐性多囊肾病
Duchenne muscular dystrophy 杜兴氏肌肉营养不良症
Congenital Adrenal Hyperplasia
(CYP21A2 gene)
先天性肾上腺皮质增生症
Spinal muscular atrophy (SMA) 脊髓性肌肉萎缩症
Multiple Endocrine Neoplasia Type1 多发性内分泌腺瘤综合征I型
Multiple Endocrine Neoplasia Type2 多发性内分泌腺瘤综合征II型
Fragile X Syndrome  脆性X染色体综合征
Huntington’s  disorder (HD) 亨廷顿氏舞蹈症
Deafness 隐性耳聋
Phenylketonuria (PKU) 苯丙酮尿症
Galactosemia 半乳糖血症
Wilson disorders 威尔逊病
Krabbe disorders 克拉伯病
Deafness (GJB2 gene) 耳聋(GJB2 基因)

We also offer PGD for other single gene disorders which require personalized development. 除以上常见单基因病外,我们还可以检测其他单基因疾病.

 

 

5 Steps to perform the PGD  PGD 的五个步骤

 

1. Consultation 遗传咨询

Provide us family history and the genetic reports, if already done. 提供家族史及基因报告
Answer within 3 days 三天内答复

 

 


2. Pre-PGD 样本采集

Genetic testing of wife, husband, and close relative (prefer affected child)
to identify the specific disease mutation in the family, if not already done.
对夫妇双方及直系亲属(优先受影响的孩子)
进行基因检测,以确定家庭中受特定基因影响)
Answer within 1 month 一个月内答复

 

 

 

3. IVF and Embryo Biopsy 试管及胚胎活检

Embryos are created and grown to the blastocyst stage.
对夫妇双方的第五天囊胚阶段胚胎进行细胞提取

 

 

4. PGD 皮套植入前基因检测及诊断

Blood samples from the couple and from close relative of known the disorders status are required.
对已知基因疾病的夫妇及近亲进行血样采集。
Answer within 2 months for common disorders and 4 months for less common disorders 
常见疾病两个月内回复&不常见疾病则需四个月内回复

 

 

5. Normal Embryo Transfer 移植正常胚胎

 

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