The Reproductive Center Successfully Cultivated the First Test-tube Baby Blocked Phenylketonuria in Hubei

Recently, the Reproductive Medicine Center of Renmin Hospital used the third generation of IVF technology to successfully cultivate a test-tube baby blocked phenylketonuria, and the baby is full moon now. All the tests showed that he is very healthy.

Phenylketonuria (commonly known as PKU) is an inherited metabolic disorder disease which is extremely harmful. Infants with PKU usually have intellectual disability, psychiatric disorders and delayed development. They can only eat special foods all life, and they will have a musty or mouse-like odor. PKU occurs in 1 in 15,000 to 28,000 newborns. Without a scientific treatment, their average life expectancy is only 30-40 years old.

Mrs. Li and her husband are from rural area in Hubei. They gave birth to their daughter who was unfortunately diagnosed with PKU in 2013. In the suggestion of doctors, the couple conducted a genetic test and found that both of them are carriers of the PAH mutations.

Prof. Ming Lei from the Reproductive Center,Renmin hospital of Wuhan University introduce that PKU is a autosomal recessive disease. When both of parents are carriers of the PAH mutations, although they typically do not show signs and symptoms of the condition, their child have 25% chance of having PKU.

How to avoid this condition happening? In July 2017, Mrs. Li and her husband came to the Reproductive Medicine Center of Renmin Hospital. Prof. Yang Jing, a well-known assisted reproductive medicine expert, and Prof. Xu Wangming, the director of the Reproductive Medicine Center, consulted for them, and then decided to carry out the third generation of IVF technology, which is also called pre-implantation genetic diagnosis technology (PGD).

Prof. Yang introduce that PGD is an earlier stage of pre-pregnancy diagnostic test. Before the embryo is transferred to the uterus, we perform genetic analysis of chromosomes or genetic tests for embryos with a genetic risk, to select healthy embryos to transfer into the woman’s uterus. Eventually, we will have a healthy baby.

In September 2017, the Reproductive Center’s team obtained 14 blastocysts through multiple assistant reproductive techniques such as superovulation, intracytoplasmic sperm injection and blastocyst culture. Subsequently, the medical team performed high-throughput molecular sequencing of the embryonic cells, and finally selected several embryos which did not carry the phenylketonuria-causing gene.

Nearly a month later, after preparation for the endometrium, Prof. Yang transferred a precious embryo into Ms. Zhang's uterus. Eventually Mrs. Zhang got pregnant. On July 8 ,2018, Mrs. Zhang successfully gave birth to a baby boy. After birth, this valued little life passed the genetic test and proved not carrying PKU disease-causing gene. The familial genetic disease genes that Ms. Zhang and her husband have passed down from generation to generation finally have come to an end.

It is reported that this infant is the first healthy test-tube baby born in Hubei Province who is successfully prevented from PKU inheritance through the preimplantation genetic diagnosis technique (PGD). Previously, the Reproductive Medicine Center of Hubei general Hospital used this technique to successfully block an autosomal dominant inheritance deafness.

Prof. Ming said that phenylketonuria, congenital deafness, spinal muscular atrophy, thalassemia, spinocerebellar ataxia, etc. are all common single-gene genetic diseases. Couples who are at increased risk of having a child with a genetic condition can use pre-implantation diagnostic techniques to block hereditary diseases in advance and achieve “primary prevention” of birth defects.

(Transferred by Xiao Zhuoni)

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