Dabao manicure has become a breakthrough in genetic testing, helping parents to have the "two treasures" of reproductive health.

Director He Xuelian accepts patients in the outpatient clinic. Correspondent Zhang Zuguo photo

Changjiang Daily reported on August 25th that "my brother has been 8 months, and now he is normal in all aspects. Thank you for doing your best to help us with genetic diagnosis, so that we can safely give birth to him and hope. " On August 24th, He Xuelian, director of the Precision Medicine Laboratory of Wuhan Children's Hospital, received a late "good news".

A year ago, the child was still in the mother's womb, and the family had already given birth to a younger brother with a rare disease. In order to confirm the health status of the fetus, He Xuelian and her colleagues thought many ways, and finally found a breakthrough from the child's brother's nails, and managed to do genetic testing, so that parents could safely give birth to the "two treasures."

A child who has had a rare disease

She is eager to have a healthy baby.

The mother's surname is Chen. In July 2020, she was pregnant for more than 4 months. She and her husband took their eldest son Lele (a pseudonym) and made a special trip to Wuhan for consultation. At that time, Lele, who was 8 years old, was obviously abnormal in appearance: her height was only 1. 15 meters, her forehead was raised, her nose collapsed and her nostrils leaned forward. Children rarely talk, and their IQ is only equivalent to that of two and a half years old.

It turned out that Lele was diagnosed as type I mucopolysaccharide storage disease at the age of 1 year. If he does not receive stem cell transplantation, he will die of heart and respiratory failure within 10 years old. When she was more than 2 years old, Lele found a suitable match and had a umbilical cord blood stem cell transplant in Shanghai, and her condition improved. However, because of the late diagnosis and transplantation, the previous skeletal deformities and neurological sequelae cannot be reversed, and the intelligence and growth of children still lag behind those of the same age.

"The doctor said that Lele's condition is related to heredity. I am worried that the baby in my stomach is unhealthy. " Ms. Chen told He Xuelian that Lele's illness made her very sad and hoped to have a healthy baby again. She wants to screen the genetic status of the "two treasures" in her belly through prenatal diagnosis.

Find a breakthrough from the nail

Confirm the health of Erbao.

What are the chances of Bauer being healthy? It is necessary to make prenatal diagnosis for the fetus according to Lele's gene mutation site.

A new problem has arisen: Lele has received stem cell transplantation, and the blood cells in his body have been replaced by donor blood cells, so the reference value of the sample has been discounted.

He Xuelian proposed to take more tissue samples from Lele for testing. Subsequently, the staff collected three samples of Lele's venous blood, oral mucosa swab and nails, and then combined with parents' blood samples for identification, and finally found a breakthrough: Lele's nail samples did not have chimera of donor genes, which could be used for subsequent genetic testing.

Subsequent sequencing results showed that Lele carried two pathogenic variants, which were inherited from parents, and the probability of giving birth to a child with mucopolysaccharide storage disease was 25%. Fortunately, the fetus in Ms. Chen's belly escaped this 25% risk, and the gene locus was normal.

Parents who gave birth to children with rare diseases.

If you are pregnant again, you must have prenatal screening.

At the end of 2020, Ms. Chen gave birth to her youngest son. After several months of observation, she finally confirmed the child's health and sent a text message to He Xuelian "good news".