A healthy baby of a poor couple

8 May is World Day of Poverty.

Many poor couples face a "dilemma of the century": Do those who are also "poor" have to break up or induce labor?

The story of Chen Fang (pseudonym) and Yang Gang (pseudonym), a couple of poor gene carriers, may provide an answer.

One

Can you still have a healthy baby after finding out that you are poor?

In October last year, Chen Fang gave birth to a healthy baby girl at Peking University Shenzhen Hospital, and the family was happy and harmonious. Recalling the heartache of getting married and trying to conceive a year ago, she and her husband were full of emotions about the addition of new life.

In 2020, when the two young people were preparing to enter the marriage hall, they found that they were both "ground poor patients" who were α the deletion of the poor gene (-SEA/aa) in the marriage examination, and the probability of having a moderately severe poor child was higher.

This makes them confused, how to have a healthy baby and block the inheritance of poor genes? With doubts, they went to the Reproductive Medicine Center of Peking University Shenzhen Hospital for medical treatment.

"If the above two people marry and naturally become pregnant without intervention, their offspring have a 1/4 chance of being severe thalassemia patients, 1/2 of the chances are α thalassemia carriers, and 1/4 chance of not carrying the ground poverty mutation gene." Therefore, the probability of natural pregnancy and having a healthy baby is 3/4. Qian Weiping, director of the Reproductive Medicine Center, explained.

Thalassemia is medically known as globin synthesis disorder anemia. Among them, red blood cells are the "transport team" that transports oxygen and outputs carbon dioxide in the human body, and "globin" is the "backbone" of the transport team. Poor patients are a type of "globin" gene is missing or mutated, then the "transport team" function will also be impaired, resulting in anemia and other problems.

The disease is named "thalassemia" because it occurs mostly in countries bordering the Mediterranean. Ground poverty is one of the most widely distributed and accumulated single-gene genetic diseases in the world.

Why does thalassemia need vigilance? Because ground poverty is inherited, α and β thalassemia are common. Α thalassemia occurs when a person does not produce enough hemoglobin α chains; when a person does not produce enough hemoglobin β chains, β thalassemia will occur. According to the clinical symptoms, it is divided into mild, moderate and severe.

At present, there are no drugs and mature gene therapy methods for the poor. In general, carriers of the poor gene do not require special treatment, and patients with moderate to severe poverty require regular blood transfusions and iron removal therapy to maintain life.

"In general, long-term blood transfusion and iron removal therapy are expensive, the average family cannot afford it, and the life expectancy of severely poor children is not long; moreover, hematopoietic stem cell transplantation is currently a possible cure for severe β poor, and the success rate of human leukocyte antigen (HLA) homogen-identical poor transplantation is high." In recent years, semi-conjugated poor transplantation carried out by medical institutions with more mature transplantation technology also has a high success rate, but the treatment cost is expensive, there are many complications after transplantation, and there is a risk of failure of 5%-10%. Qian Weiping introduced.

Two

Third-generation IVF technology blocks the "ground poverty" gene

How can we help them block and avoid poor children in their fertility?

Because both husband and wife are poor gene carriers and have a small chance of having a healthy baby, Qian Weiping helps them through pre-implant genetic diagnostic technology (PGT, commonly known as "third-generation IVF technology").

The third generation of IVF technology through genetic testing, screening out healthy embryos for transfer, such as ground poverty, spinal muscular atrophy, Du's muscular dystrophy, hereditary deafness, polycystic, phenylketonuria, Marfan syndrome and other single-gene genetic disease families can solve fertility problems through this technology.

After careful diagnosis and treatment, with the help of the "third generation of IVF technology", Chen Fang, a couple of poor gene carriers, completed embryo transfer at the Fertility Center of Peking University Shenzhen Hospital and gave birth to a healthy baby girl in October 2021.

Patients like Chen Fang and his wife who do a good job of premarital examination screening are relatively lucky, and Qian Weiping introduced that the 36-year-old Li Yang (pseudonym) he once received was not so lucky.

She and her husband are both carriers of β thalassemia because they did not detect the problem in advance and did not make a thorough birth plan. In 2016, during the natural pregnancy of the second child, the amniotic fluid puncture showed that the woman was pregnant with a severely poor child, experienced a painful decision, and finally had to undergo induction of labor. This had a certain impact on Li Yang's body and mind.

Just in the same month that Chen Fang and his wife welcomed their new life, Li Yang, 36, who underwent a induction of labor, also selected normal embryos for transplantation through the third generation of IVF fertility technology at the Reproductive Medicine Center of Peking University Shenzhen Hospital, and successfully became pregnant.

Recently, Li Yang showed through the amniotic fluid test in the second trimester that there were no abnormalities in the fetal karyotype, no β of mutant genes, and is currently in pregnancy.

Three

Guangdong people have 1 in 6 people who are poor

Thalassemia is highly prevalent in southern provinces such as Guangxi, Hainan, Yunnan, Guangdong and Guizhou, and its population gene carrying rate is more than 20% in Guangxi, Hainan and Yunnan. According to the baseline survey of the Guangdong Provincial Poverty Prevention and Control Project, the gene carrying rate of local poverty in the population of childbearing age in Guangdong is about 16.8%, that is, one in six people is a poor child, and most of the patients with severe poverty die before they are minors.

Therefore, screening, diagnosis and intervention for premarital, pre-pregnancy and prenatal poverty in areas with a high incidence of poverty, that is, a three-level prevention strategy, to prevent the birth of children with severe poverty is the most effective measure to prevent and control poverty.

Qian Weiping introduced that the land poverty can be prevented and controlled. Primary prevention is through premarital pregnancy eugenic examination, early detection of the gene carrying status of both husband and wife, targeted development of pregnancy plans, to prevent the occurrence of local poverty. For couples in natural pregnancy, secondary and tertiary prevention should be highly valued. Secondary prevention implements prenatal diagnosis and genetic counseling, and through karyotype analysis of fetal chromosomes, the gene type of fetal poverty is determined, and the birth of severe poor children is avoided. Tertiary prevention is to carry out newborn disease screening to promote early diagnosis and early treatment of poor children diagnosed in the area.

High-risk couples can choose natural pregnancy, and after pregnancy, they must do a good job of prenatal diagnosis of the fetus to determine whether the fetus is severely poor, or they can choose preimplantation genetic diagnosis (that is, third-generation IVF surgery).

Couples with a history of childbirth with moderate and severe poverty, couples with homogeneous poor carriers, couples with αβ complex poverty carriers, and couples with αβ complex and one type of poor people can be blocked by the third generation of IVF technology to have healthy babies. ”

It is reported that Peking University Shenzhen Hospital, as the first hospital in Shenzhen to have PGT qualifications, its reproductive medicine center has helped more than 80 pairs of poor gene carrier couples successfully conceive healthy babies through this technology since it obtained the qualification of preimplantation genetic diagnosis (PGT, commonly known as "third-generation IVF") in November 2018, and completed the blockage of single genetic diseases such as polycystic kidneys, hereditary deafness, Marfan syndrome, spinocerebellar ataxia and so on.

On the afternoon of "World Poverty Day" on May 8, Peking University Shenzhen Hospital also cooperated with the affiliated hospitals of the Shenzhen Reproductive Medicine Specialty Alliance to carry out free consultation and publicity activities on the first floor of the outpatient hall of Peking University Shenzhen Hospital, and carried out public welfare science popularization activities for the prevention and control of thalassemia to the public through offline free clinics and online live broadcasts.

[Reporter] Huang Sihua

【Author】 Huang Sihua

【Source】 Southern Press Media Group South + client