Detecting the risk of Down syndrome in the fetus with genetic testing

Article written by Doctor Ha Thi Lien - Vinmec High-Tech Center

Down syndrome is an inherited syndrome that occurs due to an extra chromosome 21. People with Down syndrome often have a typical face, mental retardation, mental retardation, and many birth defects. other.

The degree of mental retardation in Down syndrome fluctuates in different patients, but usually the average IQ of Down syndrome is from 35 to 70, a few cases IQ <35. Some common abnormalities in people with Down syndrome are heart defects, digestive organs, thyroid gland, childhood cancer and deafness.
The incidence of Down syndrome is about 1 in 700 children.
The genetic cause of Down syndrome was first described by Lejeune in 1959.

Pregnant women at high risk of having a Down baby can be diagnosed by chorionic villus sampling, amniocentesis for chromosomal analysis to detect abnormal numbers (trisomy 21) , mosaicism or chromosomal abnormalities (Down due to chromosomal translocation).
Down syndrome can be screened as early as the 9th week of pregnancy. With the outstanding advantage of being non-invasive, completely harmless to the fetus and can be performed as early as the 8th week, NIPT is recommended to be indicated for high-risk subjects and performed regularly. at Vinmec.
Fully complying with ILLUMINA's strict recommended standards, the NIPT non-invasive prenatal screening technique at Vinmec is considered the "key" to decipher fetal malformations, bringing outstanding improvement in outcomes. prenatal screening results. 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.

In addition, pregnant women need to be diagnosed and consulted for pregnancy monitoring. Abnormal results should be consulted by a geneticist to have a prognosis for the next birth.
Vinmec International General Hospital offers a Package Maternity Care Program for pregnant women right from the first months of pregnancy with a full range of antenatal care visits, periodical 3D and 4D ultrasounds and routine tests to ensure that the mother is healthy and the fetus is developing comprehensively.
Pregnant women will be consulted and checked for health under the close supervision of experienced and specialized Obstetricians, helping mothers have more knowledge to protect their health during pregnancy as well as reduce reduce complications for mother and child.
Customers can directly go to Vinmec Health system nationwide to visit or contact the hotline here for support.

References: Practice Guidelines for Communicating a Prenatal or Postnatal Diagnosis of Down Syndrome: Recommendations of the National Society of Genetic Counselors. Kathryn B. Sheets., et al. Journal of Genetic Couseling.2011.
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Down syndrome newborn test Can Down syndrome be cured? What is the cause of Down syndrome in the fetus?