Timing of screening to detect the risk of Down's disease in the fetus

The article was professionally consulted by Dr. Nguyen Anh Tu - Doctor of Obstetric Ultrasound - Prenatal Diagnosis - Obstetrics Department - Vinmec Hai Phong International General Hospital.

Down is one of the syndromes that cause morphological abnormalities in the fetus, it makes the baby after birth become dumb and almost lose the ability to learn. Therefore, early detection of Down syndrome in the fetus is very important.

Down syndrome is a syndrome caused by a chromosomal mutation, specifically an extra 21st chromosome, which causes morphological features as well as mental retardation in children with this syndrome. Down syndrome.
So far, it is not known why down syndrome occurs and scientists have studied that women 35 years of age and older have a higher risk of having a baby with Down syndrome.
This is one of the most common syndromes among diseases caused by chromosomal disorders, 1 in 800-1000 newborns will have Down syndrome.

Fetuses with Down syndrome, when born, will have abnormal manifestations in the morphology and function of some organs in the body.
For the nervous system: Underdeveloped, the possibility of dullness is very high. For the genitourinary system: The sex organs do not develop and often lead to infertility. The baby's head is short and small, the nape is wide and flat, the neck is short, and the flat face looks stupid. The eyes are slanted, the nose is small and flat, the eyelids are raised, sometimes crossed, skin folds cover the eyelids, the eyes are slightly swollen and red. The baby's mouth is often protruding and always open, the roof of the mouth is high, and the thick tongue sticks out. Fetuses with Down syndrome are very susceptible to infectious agents. In addition, children also suffer from respiratory diseases, gastrointestinal obstruction, blood cancer, ...

Currently, Down's disease in fetus is a huge burden to the family and society because it is an incurable disease. Therefore, screening for Down syndrome in the fetus is very important.
With the development of medicine today, people can detect up to 90% of cases of Down syndrome from the time the baby is in the womb. However, screening for this pathology needs to be based on the combination between maternal age factor, nuchal translucency ultrasound and fetal biomarker testing (PAPP-A, free beta HCG) in maternal blood at gestational age from 11 weeks -13 weeks 6 days.
Note, this screening needs to be done when the fetus is from 11 weeks to 13 weeks and 6 days old, because this navel sign only appears in the period from 11 weeks to 13 weeks and 6 days old. After 14 weeks, the skin on the nape of the baby will tend to return to normal, but this does not mean that the pregnancy will be normal.

When the baby is still in the womb, it is not always possible to detect Down syndrome in the fetus. In particular, there are cases of babies with Down in which there are almost no special signs on ultrasound. Therefore, during pregnancy, mothers need to learn carefully the knowledge about fetal care, to have regular antenatal check-ups to be examined and consulted by specialist doctors, and especially to screen for abnormalities. risk of disability in children.
Down syndrome is currently not curable but can be detected early thanks to NIPT prenatal screening with many advantages:
Non-invasive, absolutely no harm to the fetus and can be performed as early as week 2 8 onwards. NIPT is recommended for high-risk subjects and can even be the first choice for pregnant women in screening for aneuploidy in the first trimester. Accuracy up to 99.9% Guaranteed safety for both mother and baby because only about 10ml of blood is taken from the mother's vein for testing. Non-invasive prenatal screening technique NIPT at Vinmec is considered the "key" to deciphering fetal malformations, bringing outstanding improvement in results of prenatal screening for aneuploidies. Analytical results will be available in about 1-2 weeks and will be evaluated by genetic experts at the Institute of Stem Cell and Gene Technology. Customers will be consulted specifically about the risks by Fetal Medicine doctors with many years of experience about problems that may be encountered when performing NIPT test, especially for negative cases/ false positives for appropriate intervention.
Besides Down syndrome, NIPT also screens for a number of other diseases caused by chromosomal abnormalities such as Patau, Edward, Turner, Klinefelter, ...
Doctor Nguyen Anh Tu has 6 years of experience in ultrasonography. Obstetrics and Gynecology, specially researched and trained in fetal ultrasound - prenatal diagnosis. Dr. Tu has completed courses on ultrasound - prenatal diagnosis of the FMF International Fetal Medicine Association; trained in consulting and implementing diagnostic intervention techniques in fetal medicine and participated in many specialized conferences and seminars on Fetal Medicine. Currently a doctor at the Department of Obstetrics and Gynecology, Vinmec Hai Phong International General Hospital