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March 22, 2019

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Gene technology gives couple healthy baby girl

A BABY girl was born in Shanghai yesterday without a rare medical condition thanks to genetic technology.

The birth took place at the International Peace Maternity and Child Health Hospital of the China Welfare Institute.

The child is the first in the world to be born with preimplantation genetic-testing technology to avoid inheriting Schaaf-Yang syndrome.

This is a genetic condition that can cause various defects in babies, such as low muscle tone, feeding difficulties, developmental delay, intellectual disability and autism spectrum disorder. The syndrome is caused by a mutation in the MAGEL2 gene.

Previously, the baby’s mother surnamed Wang had been pregnant six times and given birth to three sons by Cesarean section.

But the first and third sons died within two weeks due to collapsed lung and asphyxiation, while the second son has cerebral palsy. Wang’s brother-in-law also had three sons who died several days after birth.

“We wanted to have a healthy baby like ordinary families and have visited many hospitals in the past 10 years,” said Wang’s husband surnamed Zhang. “Previously they only speculated that it was a kind of inherited disease but could not diagnose it or come up with a cure.”

The couple had given up hope of having another baby until 2016 when Zhang heard from a friend that several babies had been born at the International Peace Maternity and Child Health Hospital with assisted reproductive technology to avoid inherited diseases.

The couple then went to the hospital, where genetic scientists analyzed their genes and diagnosed their son had Schaaf-Yang syndrome.

Huang Hefeng, president of the hospital and an expert in reproductive medicine, then decided to use preimplantation genetic-testing technology. This is a test done in a lab as part of the in vitro fertilization process to screen embryos for specific diseases, and select healthy embryos to transfer to the uterus for potential pregnancy.

With help from the departments of auxiliary reproduction, reproductive genetics and obstetrics, Wang and Zhang’s daughter was born with a powerful cry and a florid face yesterday morning.

The couple was so excited that they cried with joy.

The syndrome was first reported and named in 2013 and has very low incidence.

Besides the Schaaf-Yang syndrome, the hospital has used PGT, the third-generation of IVF technology, to test and analyze 126 genetic mutations.

It has tested over 15,000 embryos and helped more than 150 babies to be born without inherited diseases.


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