Due to the helplessness of the fetal heart deformity, the 41 -year -old pregnant woman is finally successfully produced

Xiaomei (left) has successfully given birth to a healthy baby boy recently

The medical team of the sixth hospital affiliated to Sun Yat -sen University proved for the first time in the world: mutation of the FLNC gene site mutation may cause severe fetal heart malformations

Text/Tuyang City Evening News all -media reporter Xue Renzheng

Correspondent Janewen Yang Dai Xi'an Tang Xiaoyu

Recently, Professor Liang Xiaoyan's team affiliated to the Sixth Hospital of Sun Yat -sen University through in vitro verification experiments, the first international proved the FLNC gene mutation caused severe fetal heart malformations (Four Fourth Four joints). The 41 -year -old ultra -aged pregnant woman who was induced for production performed embryo transplantation and obtained clinical pregnancy. Recently, Xiaomei successfully bleeds a healthy baby boy.

The road to pregnancy is difficult

Three abortion, 2 induction of labor ... Xiaomei (a pseudonym) full of "past medical history", recorded her pregnancy experience since she got married to the present.

Xiaomei was diagnosed with 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 she did not succeed in pregnancy. In 2017 and 2019, Xiaomei was conceived twice through test tube babies, but when they were around 22 weeks of pregnancy, the B -ultrasound was detected that the fetus was severe heart malformations (ventricular septal defects, pulmonary stenosis, aortic riding, etc. The joint sign), helplessly induced labor.

Two of the same B -ultrasound results caused doctors to be vigilant. They found that the fetus carried a new mutant site that has never been reported by the fetus with the FLNC gene. The mutant was inherited from small beauty.

The first two pregnancy induction of labor brought a great psychological shadow to Xiaomei. However, as Xiaomei's age is getting older, she is afraid that she will always miss the chances of fertility due to her age, so in 2021, Liang Xiaoyan, the doctor of the Reproductive Medicine Center of the Sixth Hospital of Sun Yat -sen University, came to the doctor again.

Medical exploration

"Fulo Four-Division is the most common clinical congenital causal cardiovascular disease, with a prevalence of 0.02%-0.04%." Liang Xiaoyan said that the cause is usually unknown. The risk factors include drinking the fetus mothers drink alcohol and suffer from suffering Diabetes, more than 40 years of age, or rubella during pregnancy, etc., may also be related to chromosomal defects or genetic mutations that cause congenital heart defects that cause congenital heart defects.

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 has caused the cause of the severe heart malformations of the two fetuses (Four Four joints) of Xiaomei, which is not clear. Luo's four -joint obstructions have difficulty.

Considering that Xiaomei is already a 41-year-old pregnant woman, the ovarian function decreases directly. If PGT-M is not performed as soon as possible, the younger the greater success, the smaller. Therefore, the Liang Xiaoyan team quickly designed an exclusive in vitro verification experiment -using in vitro -cultivated rats myocardial cells to produce cell models with the same FLNC gene mutation as Xiaomei, which uses special viruses to introduce abnormal genes into myocardial cells' myocardial cells. Among them, the protein expression and related functions of myocardial cells were experimentally verified, which further clarified the pathogenicity of the mutation.

After the consent of the ethics committee of the court, the team conducted a PGT-M test 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. The embryo of the FLNC gene mutation is transplanted and clinical pregnancy is obtained.

Birth of a healthy baby boy

After 12 days of embryonic transplantation, Xiaomei was pregnant with a sorrowful mood, and the results showed positive. Next, I saw the fetus at 7 weeks of pregnancy, NT screening at 12 weeks of pregnancy, and the diagnosis of chromosomal nuclear types before 16 weeks of pregnancy was normal. Gene test also showed that the fetus did 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. Recently, Xiaomei successfully gave birth to a healthy baby boy through a cesarean section, and the newborn examinations were normal.

Liang Xiaoyan frankly stated that the mechanism of FLNC gene mutations caused Followy's four -joint signs to continue research, but the determination of mutation sites is undoubtedly of great significance.

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