Pre-natal and neonatal disease screening and diagnosis have been implemented at the national level and in many health facilities, opening up a new field of genetics, making a very important contribution to improving the quality of the race.
Early detection of defects
According to experts, the human body is made up of trillions of cells. Inside the nucleus are structures called chromosomes. There are about 20,000 genes in humans. Humans have 23 pairs of chromosomes, the first 22 pairs are called normal chromosomes and are the same in both men and women. The 23rd pair of chromosomes is called the sex chromosome. Females have 2 copies of the X chromosome, the male has one X and one Y chromosome.
Common chromosomal diseases: Trisomy 21 (Down syndrome), accounting for about 1/660 live births. Clinical manifestations: developmental delay and mild to moderate intellectual disability; characteristic facial features; structural heart defects; low or poor muscle tone; can live to adulthood. Trisomy 18 (Edwards syndrome), accounting for about 1 in 3,333 live births; life expectancy is usually less than 1 year. Common features: growth retardation in the uterus, increased muscle tone, abnormality in the hands or feet, defects in the heart and other organs; developmental delay and severe intellectual disability. Trisomy 13 (Patau’s syndrome) has an incidence of about 1 in 5,000 live births. Life expectancy is usually less than 1 year. Common clinical manifestations: abnormal heart, brain, kidney; cleft palate and cleft palate; severe intellectual and developmental disabilities.
According to the Ministry of Health, each year Vietnam has nearly 1.5 million children born. Notably, each year about 25,000 babies are born with birth defects, including 1,400-1,800 children with Down’s disease, about 250-250 children with Edwards syndrome, and 1,000-1,500 children with neural tube defects. , 300-400 children with congenital hypothyroidism. Especially, about 15,000-30,000 children have G6PD enzyme deficiency (enzyme deficiency), 100 children have congenital adrenal hyperplasia, about 2,200 children have congenital hemolytic disease.
Since 2000, the Committee for Population – Family – Children has piloted prenatal and neonatal disease screening and diagnosis and developed a national implementation project. By 2013, the project was implemented in 63/63 provinces and cities. Screening, prenatal and neonatal diagnosis to detect, intervene and treat early diseases, diseases, metabolic disorders, inherited right in the fetus and newborn to help babies develop normally. or avoid serious physical and intellectual consequences, reduce the number of people with disabilities and intellectual disabilities in the community. This is the right approach, bringing about important results in improving the quality of the race.
Genetic testing at Hung Vuong Hospital (HCMC)
In Ho Chi Minh City, genetics and molecular biology are trends in medical development for many years. Hospital Medical Genetics Testing Department (BV) Tu Du Obstetrics & Gynecology is one of the leading units in the country in human genetics and prenatal diagnosis.
According to specialist doctor II Tran Ngoc Hai, Deputy Director of Tu Du Obstetrics & Gynecology Hospital, with a team of professional medical staff, full of modern genetic diagnostic and screening testing equipment, Department of Genetic Testing Medicine is a place that specializes in consulting, screening tests, in-depth diagnostic tests on cell genetics and molecular biology, especially prenatal and neonatal diagnostic tests to contribute to improve the quality of reproductive health care, improve the quality of the population and transfer technology to other units.
In addition to Tu Du Obstetrics and Gynecology Hospital, Hung Vuong Hospital (HCMC) has just put into operation the Department of Medical Genetics. Dr. Hoang Thi Diem Tuyet, Director of Hung Vuong Hospital, said that each year, on average, there are about 40,000 newborn babies and 25,000 surgeries here each year. With the goal of early detection of birth defects from the beginning, giving appropriate and timely treatment, ensuring the safety of both pregnant women and fetuses, avoiding the birth of multiple heterogeneous babies. BV has advised prenatal genetics for cases of high-risk Down syndrome screening, women with ultrasound abnormalities, helping women to make the right decisions.
According to Dr. Diem Tuyet, the Department of Medical Genetics of Hung Vuong Hospital will continue to be properly invested in human as well as modern medical equipment to reach the level of countries around the world. In the near future, the department will deploy more techniques to diagnose pregnancy such as twins blood transfusion treatment, 1-placenta complications, treatment of intrauterine pregnancy …
“Many couples carrying the abnormal Thalassemia gene that causes congenital hemolytic disease may be advised to undergo in vitro fertilization to diagnose potential embryo-holding or destruction. The establishment of the unit will respond better. people’s need for health care, contributing to improving the quality of the population “- expected by Dr. Diem Tuyet.
Support lower level to diagnose difficult cases
Hung Vuong Hospital has also supported units in the directing block such as Phu Yen Obstetrics – Pediatrics Hospital, An Giang Obstetrics – Pediatrics Hospital and private hospitals such as Hanh Phuc, Hoan My, My Duc, Phuong Chau … prenatal diagnosis, genetic diagnosis, prenatal genetic counseling, diagnostic procedures, consultation for difficult cases.