Future to raise children with Down syndrome
Down syndrome is officially It is called down syndrome (21 trisomy) . Discovered by British doctor John Langdon Down.
There is usually 22 pairs of chromosomes in humans of humans. This is called a regular chromosome, and has a number 1 to 22. Of these, the 21st chromosomes are called 21 trisomy. Down syndrome (down syndrome) . Current medical care cannot be prevented or treated because of chromosomal abnormalities.
Chromosome abnormalities, including Down syndrome, are often said to be miscarriage or stillbirth, and can be actually born. Also, even if you can be born safely, it will have external features, intellectual disability, delay in muscle development, and various complications. However, there are individual differences in those symptoms and mildIt is said that it is not difficult to live an independent life, such as employment and marriage, with the support of the surroundings.
from these thingsIt is important to provide treatment and support according to the symptoms of children born as Down syndrome and their growth.
Main characteristics of Down syndrome and complications
- Former features and snacks
- The skin behind the neck is left over (surplus skin)
- Delayed muscle development, less muscle mass and obesity tendency
- Language development delay and autism
- Cataracts and strabismus
- Congenital heart disease
- Thyroid dysfunction
- Urinary dysfunction
NIPT that shows the risk of Down syndrome as soon as the echo test can be confirmed (new prenatal diagnosis)
Until now, the prenatal diagnosis was due to visual visits such as echo tests and amniotic fluid tests that puncture the abdomen of the mother. As a result, many problems such as diagnostic accuracy and miscarriage risk were listed. However, due to the improvement of genetic diagnostic technology, it is now safe using only mother blood.NIPT (new prenatal diagnosis) is often performed.
What is NIPT (new prenatal diagnosis)?
NIPT (new prenatal diagnosis) is a screening test that examines the risk of chromosomes of the fetus based on the fetal -derived DNA contained in the mother’s blood.
EarlyNIPT (new prenatal diagnosis) can be tested as soon as pregnancy can be confirmed by echo testing. There is a strong request to know the results quickly because you can get multiple options by knowing the results early. There is no direct invasion (damage) to the fetus because it is performed only by the mother’s blood collection. Also,In the test of Down syndrome , it can be said that the sensitivity and specificity are 99.9 %, the highest precision diagnosis.
Current status of NIPT (new prenatal diagnosis)
Those who receive NIPT (new prenatal diagnosis) are increasing year by year, and one of the factors is “elderly”.
Down syndrome is a congenital disease called 21 trisomy, which occurs in the 21st rifle chromosome.It is characterized by a higher birth rate and survival rate compared to chromosome abnormalities such as Edwards disease (18 trisomy) and patow (13 trisomy). Also,Down syndrome (21 trisomy) occurs only in about 1,000 people, and the percentage of fetal chromosome abnormalities tend to be higher as the age of 35 years of age or older is 35 years old.
from these things,The increase in NIPT (new prenatal diagnosis) is due to the increase in marriage and elderly pregnancy and childbirth in the modern age of women’s advancement.
What is the purpose of NIPT (new prenatal diagnosis)?
NIPT (new prenatal diagnosis) is diagnosed as “there is a chromosomal abnormality risk” and then amniotic fluid tests are confirmed, so many people choose abortion. The positive rate isAs a result of receiving NIPT (new prenatal diagnosis) , it refers to the probability that it is determined to be positive in the test and actually has a definitive diagnosis. “
NIPT (new prenatal diagnosis)Those who receive are increasing year by year. butNIPT (new prenatal diagnosis)As a resultMany people are worried that their parents are good to have undergone this test because they have been diagnosed with down.
EarlyNIPT (new prenatal diagnosis)Is a test that allows you to know the risk of chromosomal abnormalities early in pregnancy. The chromosomal abnormalities are said to have a significant effect on health risks such as miscarriage and premature birth, as well as fetal congenital diseases. Knowing the health risks of the fetus and the mother as soon as possible can prepare for creating an environment during pregnancy and after childbirth.
The purpose of NIPT (new prenatal diagnosis) is not in the “choice of life” or “parent’s ego” in the opinions of some experts. Remember that it is “knowing the facts early and the best test for fetus and mother.”
Child -rearing and cost and support of Down syndrome
Down syndrome is a disease that causes various complications. The treatment of Down syndrome itself has not been elucidated, but with the development of medical care,It can be said that the life of Down syndrome has been dramatically extended. But,Of the complications due to Down syndrome, there are many serious diseases. One of them is heart disease. There are about one -third of cases where vascular malformations and dialogue abnormalities can be seen, and many people have surgery for cardiovascular surgery shortly after birth.
Down’s syndromeMany parents with children, “What if they are parents, what will happen to their children?” “Can they understand the rules of society when they grow up?” You don’t want to think about your life expectancy. “
Above all, complications and nursing care can be a huge economic burden. Depends on symptomsIt is very difficult to predict how much cost is to raise a child with Down syndrome.
Down’s syndromeThe most important thing to become a parent of a child is “Down’s syndromeThe correct knowledge about. NIPT (new prenatal diagnosis)ByWhen a positive risk of Down syndrome is diagnosed, many parents receive counseling by certified genetic counselors. Also,You can receive a variety of supports from the government while growing from infants to adults with Down syndrome.
Although it is not surprisingly known, the average life expectancy of Down’s patients is 60 years old. In the latter half of life, parents alone will not be able to support them, and siblings and sisters will follow. I think the society that supports the child’s life will support you.
About the costs required for children with Down syndrome
Down syndrome tends to cause complications, and it is necessary to be careful immediately after giving birth and after adult. For this reason, it has a strong image that it is difficult to use expenses for going to the hospital and treatment. On the other hand,when raising children with Down syndrome, you can receive various administrative support.
- Special child support allowance
- Welfare allowance for children with disabilities
- Children’s chronic disease medical subsidy system
In addition to receiving these subsidies, there is also a support for those with disabilities and diseases, such as the “Nursing Handbook” and “Handbook for the Disabled”, to utilize various systems. The content of the subsidy differs depending on the local government, so it is a good idea to check it out before giving birth and prepare for the application.
About growth of children with Down syndrome
Down’s syndromeThe growth speed is very slow, and the exercise of high -high and walking is slow. This is because the muscle development is gentle, so the neck is usually about 4 months, and the process of walking around 1 year old is a little later, but it grows slowly. but,Down’s syndromeDepending on the degree of degree, it is possible to enhance the QOL, such as being able to go to a nursery school, or a significant development of early nursing care. It is also known that it is possible to speed up growth by promoting muscle development and actively communicating words.
About the health management of children with Down syndrome
Down syndrome often causes severe complications. Some can be understood immediately when they are born, while others develop after adults.
- Pyxia function abnormalities
- Hyperlipidemia
- Hearing loss
- obesity
- Alzheimer’s disease, etc.
These complications cannot be completely prevented. Also,Down’s syndromeIn many cases, children cannot convey their physical condition well, and the surroundings do not notice the progress of the disease. When you notice your physical condition, you can take appropriate measures quickly. Down’s syndromeIt is important to cooperate with your doctor according to the symptoms of.
What you can do before you are born to greet your baby with Down syndrome
I want to welcome the long -awaited baby in the best environment, even for healthy childrenDown’s syndromeEven children will not change.
Hiro Clinic NIPTofNIPT (new prenatal diagnosis)Can be received by anyone who has confirmed pregnancy by echo testing. By knowing the risk of chromosomal abnormalities in the baby early, creating specific environments such as the support of family and administration. You will be able to make your mind away from Down’s syndrome.
The most important thing for Hiro Clinic NIPT is “the right to know pregnant women and their families.”If you have any questions about Down syndrome or other congenital diseases caused by chromosomal abnormalities, please contact us for anything. Think about the best solutions for a happy future.
Article Editorial Supervisor
Dr Hiroshi Oka
NIPT specialist clinic, MD
Graduated from Keio University, School of Medicine
