The first international example!Guangdong Medical Team proves that the FLNC gene site mutation may cause severe fetal heart malformation

Text/Yangcheng Evening News all -media reporter Xue Renzheng Correspondent Jianwen Yang Dai Xi'an Tang Xiaoyu

Recently, Professor Liang Xiaoyan's team of Professor Liang Xiaoyan's team affiliated to the Sixth Hospital of Sun Yat -sen University passed the in vitro verification experiments and proved the first internationally that the FLNC gene mutation caused severe fetal heart malformations (Four Four joints) and successfully caused the fetal heart malformation helplessness. The 41 -year -old ultra -aged pregnant woman who induced the labor was transplanted by embryo and obtained clinical pregnancy.

Recently, the maternal cesarean section has successfully produced a 6.58 catties of healthy baby boy. At present, newborn inspections are normal.

Professor Liang Xiaoyan took a photo with Xiaomei mother and child

Three flows, 2 induction of labor, 41 -year -old ultra -aged pregnant woman falls into fertility anxiety

For Xiaomei (pseudonym) full of "past medical history", she has recorded her three times and 2 induction of labor since she got married to the present ...

Xiaomei was diagnosed as "infertility" in his early years. Beginning in 2016, she carried out two artificial insemination at the Reproductive Center of the Sixth Hospital of Zhongshan, but both did not succeed. In 2017 and 2019, Xiaomei successfully conceived the two -generation IVF, but both were about 22 weeks of pregnancy. The fetus is severe heart malformations (the four -joint performance of Florer's four -joint symbols such as ventricular septal defects, pulmonary artery stenosis, and aortic riding spans), and induction of labor.

Two of the same B -ultrasound results immediately caused the doctor's vigilance -the test detection of the secondary amniotic fluid family all exogenous sub -show group was found to have a new mutant site that has never been reported with the FLNC gene. Xiaomei.

The first two pregnancy induction of labor brought a great psychological shadow to Xiaomei, and she did not dare to feel third child. But the child is a continuation of family love. As Xiaomei's age is getting older, she is also afraid that she will always miss the opportunity to give birth to children because of her age. In 2021, Xiaomei, who didn't want to give up, found Professor Liang Xiaoyan.

Never reported genetic mutations leading to two severe heart malformations of the fetus twice

Liang Xiaoyan introduced that Farolo Four Cyneys is the most common clinical congenital causal cardiovascular disease, and the prevalence is estimated to be 0.02%-0.04%. Its cause is usually unknown. Dangerous factors include drinking, diabetes, mothers who are over 40 years old or suffer from rubella during pregnancy. related.

Professor Liang Xiaoyan in the reproductive center is out of the clinic

Under her questioning, Xiaomei recalled several members in the family suffering from heart disease to varying degrees.

It is understood that the clinical table types reported by FLNC mutations are currently in children's periods and adulthood, and no gene mutation will cause reports of the fetal heart abnormalities. A problem is presented in front of the medical staff: whether the FLNC gene mutation causes the cause of the severe heart malformations of Xiaomei twice of the fetus (Follower's four joints), which is not clear. The four -united conjunction blocks difficulties.

Liang Xiaoyan resolutely made a decision. Considering that Xiaomei is already a 41-year-old pregnant woman, the ovarian function decreases straight. If PGT-M is not performed as soon as possible, the older the age, the smaller the probability of success.

The team quickly designed an exclusive in vitro verification experiment -using in vitro -cultivated rats myocardial cells to produce cell models with FLNC gene mutations like Xiaomei, which uses special viruses to import abnormal genes into the myocardial cells of rats, and and and and and and also use special viruses. Experimental verification of protein expression and related functions of myocardial cells further clarify the pathogenicity of the mutation.

After the consent of the ethics committee of the court, a PGT-M test was performed for Xiaomei. Through the detection of chromosomal copies, the detection of genes and pathogenic sites, and home chain analysis, a chromosomal copy number was normal and did not carry it without carrying it. The embryo of the FLNC gene mutation is transplanted and clinical pregnancy is obtained.

The training room Zhang Zhiqiang and He Xunjing technicians, the test room Wang Dandan technic

"Pass five levels and cut six generals", super -old mother likes healthy babies

After 12 days of transplantation, Xiaomei was pregnant with a sorrowful mood. As a result, she was positive and successfully took the first step. The next 7 weeks of pregnancy, NT screening at 12 weeks of pregnancy, the diagnosis of chromosome nucleus in 16 weeks of the first diagnosis of amniotic fluid is also normal. Genetic testing also shows that the fetus does not carry FLNC gene mutations.

On April 28 this year, the results of the B -ultrasound showed that the fetal heart structure was not obviously abnormal, and the size of the fetus was consistent with the pregnancy week.

Xiao Meixi cried very much, and after five levels, she chopped six generals, and finally passed the most difficult level.

Recently, Xiaomei successfully cut off a healthy baby boy, and the newborn was very healthy in all aspects, and the B -ultrasound showed that there were no structure abnormalities.

The obstetrics of the hospital are higher than the director team of the director for Xiaomei for cesarean section

Source | Yangcheng Evening News · Yangcheng School

Responsible editor | Cui Wencan

- END -