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The "detective" who explores the mysteries of genetics - Zhang Nan, director of the genetic laboratory of Linfen Maternal and Child Health Hospital

author:See Linfen again

She is a doctor, but she does not face patients and families, busy all day between microscopes, computers and testing instruments, and "dealing" with various reagent bottles and testing tools.

She is more like a detective, with advanced scientific and technological means and strong film recognition skills, stripping away the cocoon from the thousands of pieces of information, finding the key to "solving the case", knowing the health status of the fetus in advance, and reducing the occurrence of many tragedies.

She is Zhang Nan, director of the genetic laboratory of the Municipal Maternal and Child Health Hospital. Over the years, she has been committed to exploring the "code" of eugenics, and her biggest wish is: "Every couple can have a healthy and intelligent baby and have a happy and beautiful future." ”

Rise to the challenge of the unknown

Wearing white armor, charging in the clinical frontline, shouldering the mission of treating diseases and saving people, this is Zhang Nan's dream from childhood, and it is also the original intention of practicing medicine. When the dream shone into reality, there was no small "deviation", and she graduated from graduate school and entered the hospital and was assigned to the laboratory department.

"To say that there is no psychological gap is false." Zhang Nan said frankly that at that time, he was a little discouraged and did not know how to go in the future. However, she soon regained her original passion and passion.

As the forerunner and promoter of prenatal screening and prenatal diagnosis in the city, the Municipal Maternal and Child Health Hospital decided to set up a genetic laboratory in order to help more families have healthy babies. This is a completely new field, but also an unknown world, Zhang Nanyong shouldered heavy burdens and braved difficulties.

From 2015 to 2016, Zhang Nan went out for further study many times, and once again appreciated the magic of this new technology, and then deeply realized the huge social benefits carried by the genetic laboratory. "Behind every defective child is an unfortunate family, while also placing a heavy financial and mental burden on the whole family," she said. Take the well-known Down syndrome, although the current level of medical care can not effectively treat this disease, but can be prenatal diagnostic screening, to avoid the birth of a 'problem baby'. Prevention is greater than cure, and I must bring back advanced technology to benefit more families. ”

From scratch, Zhang Nan felt the hardship and joy of nurturing a "new life". Coincidentally, during this time, she also completed an important transformation in her life, officially upgrading to a mother.

"In the first half of 2016, I endured intense morning sickness while trying to learn new knowledge and new technologies; in the second half of 2016, I participated in the preparation of the laboratory with a big belly." Zhang Nan said with a smile, "The laboratory passed the acceptance, I was about to give birth, and I felt that I had two children at the same time." ”

Perseverance uncover layers of mysteries

Every family is eager to have a healthy baby, how to avoid birth defects, how to achieve early detection, early intervention, this is one of the main tasks of the genetic laboratory, Zhang Nan's responsibility is to put good eugenics "the first pass".

The Municipal Maternal and Child Health Hospital undertakes the responsibility of free prenatal screening and diagnosis services in Shanxi Province, and provides amniocentesis, fetal cell culture chromosomal karyotype analysis or rapid diagnosis of chromosomal aneuploidy for pregnant women with high risk of prenatal screening trisomy 21, trisomy 18, trisomy 13-syndrome and other prenatal diagnostic indications, and the workload of genetic laboratories is also increasing day by day.

Puncture of amniotic fluid, reception of specimens, inoculation and culture, harvesting of "fruits"... For Zhang Nan, the whole process relies on "handwork", every detail is related to success or failure, and every step is like walking on thin ice. She often has a "nervous" heart, always paying attention to the cultivation process of specimens, especially when it is close to harvesting, she is even more energetic, until the specimens meet the harvest standards and reach the harvest timing.

Here you can often see such a scene: Zhang Nan is under the microscope, carefully counting the number of available karyotypes. Based on these "clues", she persevered in the pursuit of "truth". Whenever she saw 46 chromosomes in front of her eyes, she would be happy from the bottom of her heart. But when she sees one more or one less chromosome, her heart will be extremely heavy.

The diagnosis of each case is related to the fate of a small life, involving the joys and sorrows of a family. Some time ago, a young couple came to the doctor with a two-year-old boy. The boy had a distinctly peculiar countenance, could not speak, could not walk, had low intelligence and was diagnosed with microcephaly. When the causes were further explored, it was found that the boys were inherited from their mothers and were inherited recessively from the X chromosome.

The boy's aunt is pregnant, and because she is worried about giving birth to the same "problem baby", she specially came to the hospital for relevant consultation. After verification of this gene locus, no mutation of this gene was found in pregnant women. At this moment, the boy's aunt breathed a sigh of relief and couldn't help but cry with joy.

Zhang Nan feels the state of life in sorrow or joy, like a warrior exploring the mysteries of heredity, contributing to the eugenics of more families. This is her eternal original intention and an inexhaustible driving force.

Go ahead and crack the happiness code

"Thank you Doctor! No problem with the child, we are relieved! In the interview, a young mother holding a baby came to get the results of free screening for three diseases of the newborn. Seeing that the report was not abnormal, she couldn't help but smile on her face.

Zhang Nan said that at present, the implementation of three-level preventive measures for birth defects in China can prevent the birth of most defective children. Free screening of three diseases of newborns is another public welfare project undertaken by the Municipal Maternal and Child Health Hospital, and it is also the most effective tertiary preventive measure, just take a drop of heel blood, you can achieve phenylketonuria, congenital hypothyroidism and adrenal hyperplasia "three diseases" screening, for the city to control birth defects, reduce disabilities, improve the health quality of the population has played an important role.

"The earlier genetic metabolic diseases are diagnosed and the earlier interventions are treated, the higher the chances of a child recovering health." Zhang Nan said that at the beginning of this year, the laboratory screened out a positive case of methylmalonic acid, and after further verification, the child was diagnosed with methylmalonic acidemia, a rare genetic metabolic disease in newborns. After timely and effective treatment by doctors, the child has completely removed the "root of the disease" and will not affect the future physical and intellectual development.

Children are the source of happiness for parents, the hope and future of a family. Zhang Nan said: "Let's not talk about birth defects, through positive preventive measures, this risk will be reduced a lot." First of all, we must pay attention to premarital medical examination and pre-pregnancy health care, to understand whether both parties have a family history of genetic diseases, and some should carry out corresponding genetic counseling to understand the probability of genetic diseases in the next generation and how to avoid risks. After pregnancy, we should pay attention to pregnancy care and prenatal screening and diagnosis to block the birth of 'problem babies'. ”

Since stepping into this new and unknown world, Zhang Nan has a beautiful yearning for "heredity" and has been committed to reducing birth defects and ensuring eugenics for many years. She said she is glad to be doing such a meaningful job, and she will continue to move forward on this road, discovering and exploring more genetic mysteries and allowing more families to have healthy babies. (Li Jing)

[Editor: Zhang Lipeng]

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