Nghe An: Prenatal and newborn screening to improve population quality

Many risks

The weather was cold and rainy, but Vi Thi Chai and Vi Van Loi, a couple in Bang village, Chau Ly commune, Quy Hop district, still traveled nearly 200 km to Nghe An Obstetrics and Pediatrics Hospital for an ultrasound and examination.prenatal screeningAt the age of 37, no longer young and this is the fourth time Chai has given birth, so both husband and wife are very worried.

Through ultrasound, her worries increased when she was diagnosed with fetal edema even though she was already 27 weeks old. This was also the condition that happened to her and her husband during their first pregnancy and she had to terminate the pregnancy early. With a confused state of mind, she was examined by doctors at the Center for Prenatal and Newborn Screening and Diagnosis -Nghe An Obstetrics and Pediatrics HospitalDirect consultation, ask specifically about the history of the pregnancy and give options to handle this special situation.

Screening and health check-ups will help eliminate risks. Photo: PV

According to Dr. Dinh Thi Quynh - who directly consults pregnant women who come to perform prenatal screening, the rate of detecting diseases caused by genetic disorders is not rare, especially in a locality with a large ethnic minority population and the situation of early marriage and consanguineous marriage is still happening as much as in Nghe An. In fact, in some rare cases through screening, there are quite a few cases coming from mountainous districts.

Nearly 6 months ago, the pregnant woman LIU (16 years old) was pregnant for the first time and had a regular check-up at a private clinic in Binh Duong but did not do prenatal screening. After that, the patient returned to her hometown in Tuong Duong district and had 2 ultrasounds but still did not detect any abnormalities. When the fetus was 34 weeks old, the patient went to the Center for Prenatal and Newborn Screening and Diagnosis for a check-up. The doctor ordered an ultrasound of the fetus' morphology and basic blood tests and discovered some abnormalities such as Holoprocenphaly - umbilical hernia - asymmetric atrioventricular canal - polydactyly.

Counseling for couples after screening at the Screening Center. Photo: MH

To get accurate results, the patient continued to be advised to undergo amniocentesis for G4500 exome sequencing and discovered a variant classified as pathogenic on the RAF1 gene (dominant, heterozygous inheritance). Mutations on this gene are associated with Noonan syndrome, which manifests as cervical lymphatic cysts. After receiving the results, the doctors at the Center consulted, advised, and explained to the patient and family about the condition of the fetus, and finally the patient decided to terminate the pregnancy.

“The decision to terminate a pregnancy when the fetus is many weeks old will affect both the mother’s psychology and health. Therefore, we still recommend that pregnant women need to have an ultrasound examination to screen for abnormalities early and do a fetal abnormality screening test in the first trimester, from 11 weeks to 13 weeks and 6 days.

If an abnormal lymphatic cyst in the neck is detected, the pregnant woman should go to a prenatal diagnosis center to have an amniocentesis test to look for genetic abnormalities.

Doctor Dinh Thi Quynh - Center for Prenatal and Newborn Screening and Diagnosis

Solutions to ensure the health of mother and baby

Prenatal and newborn screening is a concept that has been discussed a lot and this is a measure to help detect early diseases caused by genetic disorders. From there, timely intervention and treatment measures are taken to limit the serious consequences caused by congenital malformations, reduce the number of disabled and mentally retarded people in the community, and contribute to improving the quality of the population.

Many pregnant women come for health check-ups at Nghe An Maternity and Pediatrics Hospital. Photo: MH

In Nghe An, in the past, pregnant women mainly only performed ultrasound. If in order to perform in-depth screening, pregnant women often had to do it in hospitals and big cities. Over the past 5 years, prenatal and newborn screening has received more and more attention, especially after the Center for Prenatal and Newborn Screening and Diagnosis was established. This is the only center in the North Central region and the 7th center in the country to be invested in by the General Department of Population and Family Planning - Ministry of Health with modern machinery and equipment systems to upgrade the infrastructure serving prenatal and newborn screening and diagnosis for pregnant women and newborns.

Over the years, with basic screening tests such as Double test, Triple test, NiPT, pre-eclampsia screening and invasive procedures such as amniocentesis, blood sampling, umbilical cord, the center has screened high-risk subjects for strict pregnancy management program. At the same time, genetic abnormalities are diagnosed to provide timely treatment for pregnant women. According to statistics, in 2021, more than 17,086 pregnant women received ultrasound and 2,734 pregnant women were screened prenatally. In addition, 192 pregnant women underwent amniocentesis to diagnose the condition of the fetus in depth. In addition, nearly 9,000 children were screened newborn.

Taking heel samples for newborn screening 1. Photo: MH

Dr. Nguyen Xuan Chung - Head of the Center said: "In big cities, pregnant women are aware of the importance of prenatal screening to have a healthy baby. However, in Nghe An, the number of pregnant women screened is not much and this will lead to many risks if not examined early. Children born with disabilities or intellectual disabilities are not only a disadvantage and pain for the child but also a burden for the family and the whole society."

Previously, according to research, each year in Vietnam there are about 1.4 million children born, of which about 2% of children have congenital malformations. However, only about 30% of children born are screened prenatally and newborn.

Meanwhile, the cause of birth defects in fetuses and newborns according to obstetricians can be due to genetic abnormalities (chromosomal abnormalities, gene disorders, metabolic disorders). Or during pregnancy, the mother is exposed to a toxic environment, the mother takes drugs in the first 3 months of pregnancy or the mother has infections during pregnancy such as syphilis, rubella.

Regarding prenatal and newborn screening, since 2012 Nghe An has also implemented the Prenatal and Newborn Screening project in 21 districts, cities and towns with many contents such as screening for mothers and babies after birth by taking heel samples.

However, due to financial difficulties, the rate of mothers and children screened is only 10 - 20%. In 2021, due to the project's expiration, funding sources were cut, and prenatal and newborn screening at the facility was interrupted. Based on the above reality, in July 2021, the Provincial People's Committee continued to issue Plan 403/KH-UBND on implementing the program to expand screening, diagnosis, and treatment of a number of prenatal and newborn diseases and disabilities in Nghe An province until 2030.

Implementing Decision No. 1999/QD-TTg dated December 7, 2020 of the Prime Minister approving the Program to Expand Prenatal and Neonatal Screening, Diagnosis and Treatment to 2030, on January 10, 2022, the Ministry of Health also issued a document requesting the People's Committees of provinces and cities to coordinate to implement free basic prenatal and neonatal screening service packages for poor households, near-poor households, social protection; people in extremely disadvantaged villages; communes in ethnic minority and mountainous areas, border and island areas; and dioxin-contaminated areas.

Under this program, the Ministry of Health continues to provide free chemicals, sample collection papers and consumables purchased from the Health - Population Target Program for the period 2016-2020 through 5 Regional Screening Centers belonging to: Central Obstetrics Hospital, Nghe An Obstetrics and Pediatrics Hospital, Hue University of Medicine and Pharmacy, Tu Du Hospital, Can Tho City Obstetrics and Gynecology Hospital. Technical costs for prenatal and newborn screening services are covered by the local budget.