Patau syndrome – One of the genetic syndromes most commonly encountered in the fetus, as well as the syndrome of other congenital defects, Patau syndrome seriously affect the health of the child right from when he was in the womb.
1. Patau syndrome is what?
Patau syndrome , also called syndrome abnormalities in chromosomes. Normal child is born with 46 chromosomes, arranged in 23 pairs, but when trapped in Patau syndrome, the fetus will have an extra copy of chromosome 13 in every cell of the body.
Chromosome 13 can cause serious problems mentally and physically as neurological defects, weak health, the brain poorly developed. Most of the children born suffer from Patau syndrome are lost before birth or live only in short period after birth; very few of these cases to survive to adulthood.
2. What causes Patau syndrome?
Current still yet to find out the exact cause cause Patau syndrome. However, in the majority of cases, this syndrome commonly affects girls more than boys. Chromosome 13 can come from egg or sperm, but the possibility of many is due to the age of the mother high (from 35 years old upwards).
3. The effects of Patau syndrome on the fetus
Babies born with trisomy 13 often encounter the difficult problems of health, including physical and intellectual. Children often have low birth weight when born, there is the problem of brain structure, affects the formation face, the eyes, the nose of the child. Some consequences of Patau syndrome often seen include:
- Cleft lip, cleft palate
- Polydactyly fingers, feet (grows more toe women)
- Kidney problems, neck or scalp
- Head small,ears low
- Eyes small, distance of two eyes close together
- Disease “brain interior only”- the brain does not divide into two hemispheres
- The rate of heart defects high (80%)
- For girls can lead to a situation of two-horned uterus (uterus has an unusual shape)
- For boys can have problems testicles: testicles do not descend into the scrotum (cryptorchidism)
For the child with Patau syndrome , lucky to be alive after born can join the serious complications such as:
- Shortness of breath
- Congenital heart defects
- Hearing loss
- High blood pressure (hypertension)
- Intellectual disability
- Neurological problems
- Delayed development of physical
- Hard to eat or digest food poorly
4. Diagnosis of Patau syndrome like?
Doctor can detect the physical signs of trisomy 13 in the first pregnancy ultrasound first trimester. Or can diagnose Patau syndrome through the tests, such as screening of DNA without cells (NIPT) or PAPP-A (plasma proteins related to pregnancy A).
However, the tests on only the screening test, and sometimes the result of they can not accurately determine the fetus has a disorder trisomy 13 or not.
These tests only warning that babies have a higher risk of suffering from Patau and need to do more other tests to confirm the results correctly. Pregnant may take a sample of chorionic villi (CVS) or amniocentesis to be 100% sure.
5. Test NIPT
Test NIPT is a screening method for the prenatal non-invasive based on DNA testing of the fetus in the blood mother. Through this test, doctors can detect is malformation of the fetus right from the new pregnancy is 9 weeks old, rather than waiting up to 12 weeks of age as before this, from which help reduce the risk of miscarriage than with amniocentesis usually.
Currently, at general hospital, international Vinmec are deployed laboratory service non-invasive NIPT, can bring improved superior about the results of prenatal screening help early intervention and effective with the the fetus has a malformation.
Although the screening methods, traditional as aspiration amniotic fluid, villus for the accuracy, but potential unsafe elements (miscarriage, vaginal bleeding, infection, leak amniotic fluid). Instead of apply the traditional way to cause direct effects to the fetus then the methods of prenatal screening non-invasive (NIPT) safety trumps.
Doctor just take 20ml of blood in the veins of the mother from gestational week 9 onwards to proceed to sequencing DNA. This result will help the expert to detect whether the fetus has a high risk of unusual a number of chromosome is often seen as a syndrome of Down, Patau, Edward, Turner or not.
Methods of prenatal screening non-invasive NIPT can be considered as suitable choice for the case has taken measures screening traditional (double test, triple test) result in high-risk, before deciding whether to do prenatal diagnosis invasive (aspiration amniotic fluid, villus).
In addition, the pregnant women are older (over age 35), families who have children deformities should also choose the solution NIPT from the early stages of pregnancy to avoid the bad case can occur for both mother and baby.
6. Genetic counseling
When the results are diagnosed the child is suffering Patau syndrome, the doctor will conduct genetic counseling, offers these helpful tips for parents. Since then, the family can weigh in, thinking to make choices based on the analysis results of doctor.
In addition, genetic counseling is recommended to:
- Learn in detail about the significance test results chromosome
- Understand the birth a child which also has a risk of being affected from the disease
- Understand the diagnostic choice for each other
Hospital international Vinmec Times City with a team of professionals experienced and well-trained specialist in deep water and in the water have the background scientific development in the world such Germany, England, France will counseling lessons on genetics for the customer before making the decision to do NIPT.
Besides, The technology center Gen Vinmec is equipped with modern machinery for fast results, accurate and superior safety such as:
- Clean room system ensure standard
- System separate and store stem cells automatically AXP – Thermogenesis and Bio-Archive
- Analyzers, test cells flowcytometer Navios – Beckman Coulkter
- Centrifuge Eppendorf, Adiplus
Vinmec also committed to:
- Customers will be advised, full of information about NIPT with expert in pathology, genetics
- The customer will not get the results without the genetic counseling
- Process sampling and shipping of blood samples contain DNA of the mother and child according to the standard ISO 15189/2012
- Ensure privacy and security of customer information
- Clean room system, modern equipment
- Be insurance assistance when positive results or false negative
Customers can directly to Vinmec Times City to visit or contact hotline 0243 9743 556 to be supported.
Article reference source: Webmd.com