Down syndrome test for babies

The article was consulted with MSc Duong Van Sy - Department of Pediatrics - Neonatology, Vinmec Hai Phong International General Hospital.

Down syndrome has no cure, and its symptoms vary from child to child. There are children that need a lot of treatment and care. Be equipped with knowledge to accompany your child through the journey.

Down syndrome is the most common monochromosomal disorder. This is a malformation of the gene sequence caused by an extra copy of part or all of chromosome 21 (Tiploid 21).
The most important thing is early identification and diagnosis, parents need knowledge about the related problem, as well as support and advice from experts. The biggest risk factor for Down Syndrome is maternal age, with the risk increasing with age.

After birth, the initial diagnosis of Down syndrome is usually based on the baby's deformity. Based on the blood sample obtained, this test analyzes your baby's chromosomes. If an extra chromosome 21 is detected, a diagnosis of Down syndrome is established.
For preterm infants , the diagnosis of Down syndrome by phenotype is often not accepted and must be combined with additional chromosomal testing.
Common phenotypes of Down Syndrome:
Short stature Small head Swirling in the middle Small ears, excess skin on the nape, Upturned eyelid slits Eye fan creases Low bridge of the nose Brushfield dots (white nodules) lying at iris edge) Tongue protruding Hands wide and short, palmist palms apart Big toe and index toe far apart, Decreased muscle tone Cardiac lesions are found in about 30% to 50% number of children with Down syndrome, including atrioventricular canal (30%), and tetralogy of Fallot (septal aorta, ventricular septal defect, right ventricular outflow tract stenosis, and right ventricular hypertrophy) (30) %). At birth, duodenal closure is a common malformation, which causes vomiting of bile and a distinctive malformation of gastric and duodenal dilatation near the base.

If a baby is suspected of having Down's Syndrome, doctors will discuss the risk and need to know on a clinical basis as soon as possible. Parents will have a challenging time, share with experts to find the most suitable method. As soon as your baby is suspected of having Down, doctors will order tests to confirm the diagnosis.
At Vinmec, pregnant women are recommended to carry out the following tests to screen for Down Syndrome :
When 11-14 weeks pregnant : Blood test: Double test
Nuchal translucency ultrasound: method This helps to detect the fetus with Down syndrome in up to 80%.
When 15-22 weeks pregnant : Blood test: Triple test, this test can detect the disease with up to 80% accuracy.
After reviewing the test results, if the fetus is at high risk (the ratio is 1/250), the doctor will prescribe the chorionic villus sampling technique and amniocentesis, these tests give the best results. The results are accurate to 99%. However, these specialized tests are often expensive, invasive, and can harm the fetus.
Once a diagnosis is confirmed, parents and baby will need to see a doctor regularly as it is a lifelong problem, and a diagnosis being made will be the beginning of a arduous journey that parents need together companion child. Cardiovascular and gastrointestinal defects should be diagnosed and monitored closely.
Down syndrome is currently not curable but can be detected early thanks to NIPT prenatal screening with many advantages:
Early detection of the risk of disease (from the 10th week of pregnancy) Accuracy up to 99, 9% Ensure the safety of both mother and child because only about 10ml of blood is taken from the mother's vein for testing. Fully complying with ILLUMINA's strict recommended standards, the NIPT non-invasive prenatal screening technique at Vinmec is considered the "key" to deciphering fetal malformations, providing outstanding improvement in outcomes. prenatal screening. Analytical results will be available in about 1-2 weeks and will be evaluated by genetic pathologists at the Institute of Stem Cell and Gene Technology. Customers will be consulted specifically about possible risks, especially for false positive / negative cases to have appropriate intervention direction.