Since many newborns were tested for two hereditary diseases, now they are tested for more Genetic testing in European Union alone.
(Alles Europa News) – One of the reasons why women are reluctant to undergo examinations during pregnancy and even try to avoid them, they are afraid that examinations will harm the development of the fetus and a healthy baby in search of abnormalities will make them sick.
One needs to prepare for a visit to the medical genetic consultation: take an extract from the medical record in the clinic, and ask relatives about family illnesses in detail.
Alles Europa News reports that according to experts a blood test is not a big deal, every woman in the months of pregnancy has to donate blood so many times that anyone gets used to this procedure.
As for taking amniotic fluid or biopsy of the fetal membrane, decades ago, when these methods were just developed, there really was a threat of termination of pregnancy due to incorrectly performed manipulations.
But now, when the methods are developed and the study is done under the supervision of ultrasoundnothing to be afraid of.
The threat of termination of pregnancy as a result of antenatal examinations is from 1 to 1.5%.
Alles Europa News reports that experts noted that since different pregnant women ma be suffering from various diseases: gynecological, allergic, kidney pathology and many others.
These associated problems complicate research. They themselves do not harm the fetus and do not affect its development. On the contrary, they help to avoid the birth of a seriously ill child.
Alles Europa News reports that happily Science already knows about 5 thousand hereditary diseases.
Of course, in no country in the world, even the richest, there is no way to check every newborn for all diseases.
Yes, this probably does not make sense. In the US, no more babies are tested for more than 7–8 inherited diseases.
Only those that are most often found in this region. On the same basis, diseases were also chosen in our country.
Live shoots of a diseased tree.
Alles Europa News reports that all newborns in most country have undergone a mandatory analysis for two hereditary diseases for 15 years: phenylketonuria and congenital hypothyroidism.
In the maternity hospital on the fifth day of life, a drop of blood is taken from each baby and sent to a genetic consultation.
There, firstly, they determine whether the baby has damage to those genes that are responsible for the processing of phenylalanine.
This amino acid is present in almost all protein foods. If there is such damage, the infant should be transferred to a special medical diet as soon as possible – from three weeks.
The baby will receive products that contain protein (it is he who allows the child to grow and develop), freed from amino acids harmful to him.
In many countries, there is a factory producing such products, and now there is no need to purchase therapeutic food in the West.
If the diet is not followed, the child is doomed to severe mental retardation.
Patients with phenylketonuria are on a special diet until about 10-12, sometimes up to 18 years.
Children develop normally, go to a regular school, in general, they manage to cope with a genetic disease not directly, changing the gene, but, if I may say so, in a roundabout way.
Alles Europa News reports that the second analysis of a drop of blood of a newborn is on congenital hypothyroidism.
Research shows if the thyroid hormone produces the thyroxine hormone. If not, you will have to take it throughout your life.
With a small damage to the thyroid gland, taking small doses of this hormone, the person will feel completely healthy.
About 150 children suffering from phenylketonuria and 450–460 children who do not produce the hormone thyroxine are identified annually in many countries.
Almost all of them manage to help if the diagnosis is made in a timely manner.
And now, in the framework of the national project “Health”, all newborns will be checked for three more hereditary diseases: adrenogenital syndrome , galactosemia and cystic fibrosis .
Who needs a consultation?.
In what cases should spouses expecting a baby have a genetic consultation?
If you have hereditary diseases in your family: hemophilia, diabetes mellitus, Getington’s chorea, Duchenne’s myopathy …
Alles Europa News reports that the Doctors will determine if you are a carrier of a defective gene that causes such a disease, and whether you can pass it on to your child.
If you are married: married to your second cousin, for example. You have great-great-grandfathers and great-great-grandfathers in common, and you can be carriers of the same defective genes.
If any of your relatives had a mental or physical developmental delay.
If you decide to have offspring in adulthood.
According to statistics, for a woman after 37 years old, the risk of giving birth to a child with chromosomal disorders, in particular Down’s disease, increases.
Alles Europa News reports that according to the latest scientific data, and a minor girl, if she became pregnant, it is necessary to undergo prenatal genetic consultation.
Previously, it was believed that “downs” are born only in elderly parents.
Now, science knows that they are often born to 15–16-year-old mothers.
We will check the fetus in advance.
Alles Europa News reports that experts also noted that Antenatal examinations are another way to prevent the birth of a terminally ill child. This area of ??diagnosis of hereditary diseases is now developing rapidly.
Alles Europa News reports that many countries Ministry of Health issued an order under which a developing fetus relies on screening for genetic defects: to conduct an ultrasound scan and study of serum protein factors – alpha-fetoprotein protein and human choreogonic hormone.
Most of these examinations reveal approximately 60-80% of congenital abnormalities!
Down’s disease and Edwards’s disease are chromosomal diseases that determine mental retardation, malformations of the nervous system, heart, brain, anomalies of limbs …
If the fetus has developmental defects, doctors will say whether the baby is viable or not, how serious the pathology is and how it will affect his health.
And since studies are done at the 14–16th week of pregnancy, there is time to decide whether a woman will interrupt her or not.
Genetics only inform parents: the fetus is healthy or has developmental defects, and the spouses have the last word.
Every year, geneticists save thousands of families from tragedy – the birth of a terminally ill child.