The article was consulted professionally by Dr. Nguyen Anh Tu – Doctor of Obstetrics ultrasound – Pre-birth diagnosis – Obstetrics department – Share99 Hai Phong International Health Hub.
Down is one of the syndromes that causes ermity abnormalities in the fetus, it makes the child after birth become foolish and almost inability to learn. Therefore, screening for early detection of down syndrome in the fetus is very important.
1. What is down syndrome
Down syndrome is a syndrome that occurs due to mutations in chroma, namely due to an excess of 21st chroma, which causes chroma chroma characteristics as well as mental ret development in children with Down syndrome.
So far, no cause has been found as to why down syndrome has emerged and scientists have found that women aged 35 and over are at increased risk of giving birth to children with Down syndrome.
This is one of the most common syndromes among chroma disorders, one in every 800-1,000 newborns will have Down's syndrome.
2. What the fetus will look like when it comes to down syndrome
The fetus has down syndrome, at birth there will be abnormal manifestations of the erm and function of some bodies in the body.
- For the nervous system: Underdeve developed, the likelihood of dullness is very high.
- For the genital system: The genitals do not develop and often lead to infertility.
- The child's head is short and small, the nape is wide and flat, the neck is short, the flat face looks stupid.
- The eyes are suffoned, the nose is small and flattened, the eyelids are upside down, sometimes spleid, the skin folds are covered in the eyelids, the eyes are slightly swollen and red.
- The child's mouth is usually open and always open, the palate is high, the tongue is thick.
- Fetuses with Down's disease are very susceptible to bacterial agents.
- In addition, children also suffer from respiratory diseases, gastrointestinal obstruction, blood cancers,…
3. When screening detects the risk of down syndrome in the fetus
Currently, fetal down disease is a huge burden on families and society because it is an incurable pathology. Therefore, screening for down disease in the fetus is very important.
With the development of medicine today, humans can detect up to 90% of cases of Down syndrome since the child is still in the womb. However, to be screening for this pathology, it is necessary to rely on a combination of medta factor, ultrasound to measure nape skin opacity and test forfetal biomarkers (PAPP-A, free beta HCG) in the mother'sblood at gestational age from 11 weeks to 13 weeks 6 days.
Note, this screening should be carried out when the fetus is between 11 weeks and 13 weeks and 6 days of age, because this sign of nape skin appears only between 11 weeks and 13 weeks 6 days of age, after 14 weeks the skin of the baby's nape will tend to return to normal but this does not mean that the pregnancy will be normal.
When the child is still in the womb, not at any stage it is possible to detect down disease in the fetus. In particular there are cases of baby Down that on ultrasound there are almost no special signs. Therefore, mothers in pregnancy need to thoroughly understand the knowledge about fetal care, have to have regular pregnancy examinations to be examined by specialists, fetal health advice and especially screening for defects at risk in the child.
Down syndrome is currently incurable but can be detected early thanks to NIPT pre-birth screening with many advantages:
- Non-invasive, absolutely no harm to the fetus and can be done early from the 8th week er. NIPT is recommended for high-risk subjects and may even be the first choice for pregnant mothers in multiple deviation screening in Q1.
- Accuracy up to 99.9%
- It is safe for both mother and child to take about 10ml of blood from their veins for testing.
Nipt non-invasive pre-birth screening techniques at Share99 are considered the "key" to deciphering fetal malformations, bringing outstanding improvements in pre-birth screening results of multiple deviations. The results of the analysis will be available in about 1-2 weeks and be appraised by genetic experts at the Institute of Stem Cell Research and Gene Technology. You will be consulted specifically about the risks by fetal medicine doctors who have many years of experience in the problems that may be encountered when performing NIPT tests, especially for false negative/positive cases for appropriate intervention.
Besides Down syndrome, NIPT also screened for a number of other diseases caused by chromic abnormalities such as Patau, Edward, Turner, Klinefelter, …
Dr. Nguyen Anh Tu has 6 years of experience in obstetrics and gynecology ultrasound, especially researched and trained in pregnancy ultrasound – pre-birth diagnosis. Dr. Tu has completed courses on ultrasound – pre-birth diagnosis of the FMF International Society of Fetal Medicine; be trained in consulting and implementing diagnostic intervention techniques in fetal medicine and participate in many in-depth conferences and seminars on Fetal Medicine. Currently a doctor at Obstetrics and Gynecology Department of Share99 Hai Phong International Health Hub
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