A healthy baby born thanks to magic PGT tech

Cai Wenjun
A breakthrough in genetic testing allowed doctors at the Obstetrics and Gynecology Hospital of Fudan University to identify a healthy embryo for implantation.
Cai Wenjun

A healthy baby girl has been delivered in Shanghai through an advanced diagnostic technique that can reveal the genetic profile of an embryo before the implantation phase of in vitro fertilization.

The technology allowed a family with genetic health problems to have a healthy baby despite four previous pregnancies that resulted in abnormal fetuses.

The couple, who married seven years ago, were pregnant in 2016, 2017 and 2019 but all three pregnancies were terminated due to congenital deformities of the fetuses.

During their fourth pregnancy in 2020, a prenatal check found multiple deformities of the fetus and a genetic test at the Obstetrics and Gynecology Hospital of Fudan University confirmed that the fetus has a mutation on gene IGF2.

IGF2 mutations are related to Silver-Russell Syndrome 3, a rare genetic disease that causes severe growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations.

Dr Huang Hefeng of the Fudan University hospital led a team to further investigate the source of the mutation and found it was passed on by the husband.

To help the couple have a healthy baby, doctors introduced pre-implantation genetic testing for monogenic disorders (PGT-M). The use of PGT technology, through which doctors conduct genetic testing on embryos and select only healthy embryos for transplantation to prevent genetic diseases, was used for the first time in clinical practice for a family to block the risk of Silver-Russell Syndrome 3 through PGT-M, local doctors claimed.

During the process, doctor identified two healthy embryos among five and implanted one into the woman in August 2022.

Prenatal checks found the fetus to be healthy and the baby was safely delivered without any abnormalities.

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