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Professional consultation article by Doctor Department of Obstetrics and Gynecology, Vinmec Hai Phong International General Hospital.
Patau syndrome - One of the most common inherited syndromes in the fetus, like other birth defects syndromes, Patau syndrome seriously affects the health of children from the time they are in the womb.
1. What is Patau syndrome?
Patau syndrome is also known as chromosomal abnormality syndrome. Normally, babies are born with 46 chromosomes, arranged in 23 pairs, but with Patau syndrome, the fetus will have an extra copy of chromosome 13 in every cell of the body.
Chromosome 13 can cause serious mental and physical problems such as neurological defects, poor health, underdeveloped brain. Most babies born with Patau syndrome die before birth or live only a short time after birth; Very few infected people live to adulthood.
2. What causes Patau syndrome?
Currently, the exact cause of Patau syndrome has not been found. However, in most cases, this syndrome affects girls more often than boys. Chromosome 13 can come from an egg or sperm, but is more likely due to the advanced age of the mother (35 years or older).
3. Effects of Patau syndrome on the fetus
Children born with trisomy 13 often face difficult health problems, including physical and intellectual. Children often have low birth weight, problems with brain structure, affecting the formation of the baby's face, eyes and nose. Some common consequences of Patau syndrome include:
Cleft lip , cleft palate Defects extra fingers and legs (additional toes) Kidney, wrist or scalp problems Herniation Small head, ears Low eyes Small eyes, close distance between eyes Having “single ventricle” disease – the brain does not divide into two hemispheres High rate of heart defects (80%) For girls it can lead to uterine conditions bicornuate (abnormally shaped uterus) In boys, there may be testicular problems: testicles that do not descend into the scrotum (undescended testicles). For babies with Patau syndrome who are lucky to survive after birth, they can experience serious complications such as:
Shortness of breath Congenital heart defects Hearing loss High blood pressure (hypertension) Intellectual disability Nervous problems Pneumonia Epilepsy Slow physical growth Difficulty eating or digesting food.
4. How is Patau syndrome diagnosed?
Your doctor can detect the physical signs of trisomy 13 during a first-trimester ultrasound. Or Patau syndrome can be diagnosed through tests such as cell-free DNA screening (NIPT) or PAPP-A (pregnancy-associated plasma protein A).
However, these tests are only screening tests, and sometimes their results cannot determine whether a fetus has trisomy 13 syndrome.
These tests only warn that the baby is at high risk for Patau and that further tests are needed to confirm the results correctly. Pregnant women can have chorionic villus sampling (CVS) or amniocentesis to be 100% sure.
5. NIPT . test
NIPT test is a non-invasive prenatal screening method based on fetal DNA testing in maternal blood. Through this test, doctors can detect fetal malformations as early as 9 weeks pregnant instead of waiting until 12 weeks old as before, thereby helping to reduce the risk of miscarriage compared with amniocentesis. normal amniotic fluid.
Currently, at Vinmec International General Hospital, the NIPT non-invasive testing service is being deployed, which can bring outstanding improvements in prenatal screening results, help early and effective intervention for pregnant women. children with defects.
Although traditional screening methods such as amniocentesis and chorionic villus sampling have high accuracy, they have many potential unsafe factors (miscarriage, vaginal bleeding, infection, fluid leakage) amniotic fluid). Instead of applying traditional methods that directly affect the fetus, non-invasive prenatal screening (NIPT) is much safer.
The doctor only needs to take 20ml of blood from the mother's vein from the 9th week of pregnancy on to conduct DNA sequencing. These results will help experts detect whether the fetus is at high risk of some common chromosomal abnormalities such as Down syndrome, Patau, Edward, Turner syndrome.
Noninvasive prenatal screening method NIPT can be considered an appropriate choice for cases where traditional screening methods (double test, triple test) have been performed for high-risk results, before decided to do invasive prenatal diagnosis (amniocentesis, chorionic villus sampling).
In addition, elderly pregnant women (over 35 years old), families with children with anomalies should also choose NIPT solutions from an early stage of pregnancy to avoid bad cases that can happen to both mother and baby. .
6. Genetic counseling
When a child has a diagnosis of Patau syndrome, the doctor will conduct genetic counseling, providing useful advice for parents. From there, the family can consider and think to make a choice based on the doctor's analysis results.
In addition, genetic counseling is recommended to:
Understand the details of what chromosomal test results mean Understand having another baby at risk from the disease Understand your options diagnosis for other pregnancies. Vinmec Times City International General Hospital with a team of experienced experts who are well-trained in the country and in countries with leading scientific development in the world such as Germany, the UK, and France will advise Provide thorough genetic counseling to clients before making a decision to do NIPT.
Besides, Vinmec Gen Technology Center is equipped with modern machinery system for fast, accurate and outstanding safety results such as:
Clean room system that meets standards. AXP – Thermogenesis and Bio-Archive Cell analyzer, flowcytometer Navios – Beckman Coulkter Centrifuge Eppendorf, Adiplus. Vinmec also commits:
Customers will be consulted, full of information about NIPT with a genetic pathologist Customer will not receive results without genetic counseling Sampling, transportation Transfer of blood samples containing DNA of mother and child according to ISO 15189/2012 standard Ensure privacy and confidentiality of customer information Clean room system, modern equipment Supported by insurance when the result is positive or negative fake.
Please dial HOTLINE for more information or register for an appointment HERE. Download MyVinmec app to make appointments faster and to manage your bookings easily.
Article referenced source: Webmd.com.
