Receiving false fetal malformation screening results, mother gives birth to child with gene mutation

On September 26, a representative of Gene Solutions Company in Hanoi shared this case, saying that the woman was pregnant for the first time and was in good health. When she was 12 weeks pregnant, she bought a Nipt test package from a personal account in a social network group. This person claimed to be an employee of a famous brand in the field of prenatal screening.

Nipt is a non-invasive prenatal screening test that allows the detection of genetic diseases, gene mutations and serious abnormalities that affect the physical and mental development of children.

The pregnant woman chose the service of the above account because it was advertised as "fast, preferential price, staff come to your home to collect samples, no need to travel". A few days later, the results returned showing that all fetal indicators were normal.

However, when she was 19 weeks pregnant, she went to the hospital for an ultrasound and found that the baby's nuchal translucency had increased, indicating a risk of genetic disease. Doctors ordered an amniocentesis for testing, and the baby was found to have skeletal dysplasia due to a mutation in the FGFR3 gene. This is a bone growth disorder in which healthy bone tissue is replaced by fibrous tissue, causing the bones to become weak, deformed, and easily broken, causing dwarfism, possibly seizures, and slowing the child's development and movement. In particular, this disease can be screened through Nipt screening.

The pregnant woman contacted the service provider that the Facebook account claimed to be from and sent the result code to request support. However, the representative of the unit confirmed that the result code belonged to another patient and that there was no information about her in the data system. The person who performed the online Nipt refused to support and blocked all communication.

Because the fetus was already large, the woman continued the pregnancy. The baby was born with a genetic test, and the result was that he had skeletal dysplasia.

There are many groups on social networks discussing the Nipt prenatal screening service, including many personal accounts claiming to be employees of famous brand screening services. They advertise screening packages for pregnant women in need, with preferential costs, without having to go to the place to collect samples.

"In fact, you cannot verify whether that account is an employee of a reputable testing company or not. Moreover, when you take a sample at home, you do not know where your sample goes, whether it is tested or swapped," said a representative of Gene Solutions.

Experts say many people believe in advertisements on social networks when there is no basis to verify whether it is true or false, do not know the quality and expertise of the sample taker, do not receive policy support and genetic counseling if the results are abnormal, leading to loss of money and disability. Many cases of children with genetic diseases that are not detected during pregnancy, when born, become a burden for the family, easily creating psychological trauma when parents know the truth.

Dr. Nguyen Canh Chuong, Director of the Center for Scientific Research, Training and Line Guidance, Hanoi Obstetrics and Gynecology Hospital, acknowledged that prenatal screening is very important, as it can detect early risks of abnormalities, especially genetic diseases - which are common in the community, such as thalassemia (congenital hemolytic anemia), Down syndrome, Turner disease, and phenylketonuria. These diseases can cause serious consequences if not screened and detected promptly.

Therefore, pregnant mothers need to consider carefully, choose to screen at medical facilities or clinics that are licensed and affiliated with reputable units. Only use the service when you know the information clearly, have direct communication. Doctors recommend not to want to perform quick or cheap screening, putting the health of pregnant mothers and fetuses at risk. The consequences of being scammed and having screening results swapped can have long-term effects on the future of the whole family.

When choosing a Nipt testing unit, consider a number of important criteria such as: Licensed and reputable medical facility, associated with a reliable service unit; has a comprehensive support policy, including in-depth genetic counseling and post-test instructions.