Down syndrome children photos
Intrauterine diagnosis of Down syndrome
In the modern world, the presence of Down syndrome in a child is determined with a large percentage of the probability already in utero. And parents have a choice – to bear this pregnancy or to interrupt it in the early stages.
Newborns with Down Syndrome – Signs of Illness
Waiting for the baby is always shrouded in mystery, euphoria and excitement.
Children with Down Syndrome: Causes and Signs, Possible Level of Education
Future parents, who are looking forward to the first meeting with their child, firmly believe that this will be one of the happiest moments in their lives. But the birth of a baby with genetic diseases can for a long time take the soil out from under the parental legs.
One of the most serious congenital abnormalities is the so-called Down syndrome. It should be specialists who examine the newborn, suspect him of this disease, as the heart of the parents does not find peace.
Despite the fact that only for one type of child, the presence of Down syndrome is not diagnosed, the outward signs of this pathology are so characteristic that even an experienced nurse can easily see them in a newly born baby.
How does Down syndrome develop?
Down syndrome is a congenital genetic disease that combines mental retardation and characteristic external signs. Such babies are often called “sunny kids” for their incredible kindness and unwavering smile.
In a healthy baby, each cell contains 46 chromosomes: 23 from the father and 23 from the mother. They determine all inherited traits, starting with the color of skin, eyes, hair and ending with a tendency to various diseases. A newborn with Down syndrome has a mutation in 21 pairs of chromosomes, where a third structure appears, as a result of which the number of chromosomes is not 46, but 47. This additional chromosome determines the development of pathology.
According to experts, the severity of the manifestations and signs of Down syndrome in newborns is not the same and depends on some factors.
Why does Down syndrome develop in a newborn baby?
The reasons for the development of Down syndrome in today’s time is not fully established. Anomaly occurs everywhere, in all corners of the planet, among mothers of any race, age and social stratum. At the same time, the reliably established factor, which significantly increases the likelihood of Down syndrome in a newborn, is the age of the mother:
- in young girls aged 20-25, the probability of having a baby with this pathology is 1 by 1562;
- in women aged 35–39 years, this risk rises to 1 case per 214 infants;
- at the age of 45, Down syndrome in a child occurs in every twentieth mother.
It should be noted that the frequency of occurrence of this anomaly in girls and boys is the same.
Symptoms of Down Syndrome in Newborns
Many of the manifestations of Down syndrome in newborns are noticeable from birth, they include:
- flatter face compared to faces of other children;
- formation of skin folds in the neck;
- the formation of the so-called “Mongol fold” at the inner corner of the eyes;
- oblique incision and raised corners of the eyes;
- small earlobes, deformation of the auricles, narrow auditory canals;
- brachycephaly – “short” head;
Symptoms of Down Syndrome in Children | Mom, Dad and Baby!
I would like to start this article by replacing the definition of this gene pathology, please note that the word disease is inappropriate in this case, the phrase “sunny child.” After all, this is how young mothers call their special children. Not only a specialist, but also an ordinary person can notice any abnormalities in a child. This is due to the fact that many signs of Down syndrome are noticeable immediately after birth, as a rule, these are characteristic features of the baby’s face, but other than that there are other signs of the “sunny child” syndrome.
Characteristic signs of the presence of Down syndrome
Related to the face of the child.
Related to other parts of the body.
Silent cropped skull and small head.
Twisted, slightly concave little fingers of hands.
Skin folds located on the inner corners of the eyes.
A wide fit between the big toe and the next toe.
Oblique eye section.
All these signs do not require special procedures for their detection, in contrast to a more detailed examination of the patient, which usually reveals whitish specks of small size, located on the iris of the eye, strabismus, and chest deformity. But these symptoms of Down syndrome in children are far from recent. In the process of his growing up, all children with this syndrome will be similar to each other, regardless of the appearance of their parents.
In any case, the final analysis can be performed only after a special examination and delivery of the corresponding analysis, after studying which a violation of the chromosome composition can be detected.
The “sunshine child” syndrome is usually the cause, or simply associated with some processes, such as:
Surely many pregnant women are especially worried about the probability of the birth of such a child, whether it is more accurate to find out or assume the presence, in which the child she wears, of this syndrome. Modern technologies have made a huge step forward in this matter, and now the presence of Down syndrome in a child can be determined even during the pregnancy of a woman. For more timely detection, all women in an interesting position are offered to undergo perinatal screening, this procedure should be carried out 3 times during the entire pregnancy.
Of course, having learned about this pathology of the child at an early period, a woman can decide to end her pregnancy, thereby depriving the child of the joy of life. It was no coincidence that I translated the topic of the article precisely to this issue, because Down’s Syndrome is not able to deprive a child of life, but a woman, thinking about it, yes. Moreover, at present this pathology has ceased to be a rare case, and you can meet on the street quite successful adult with this syndrome. Believe me, he also went to school, fell in love and even tried to smoke. Of course, to raise such a child is very difficult, but isn’t maternal love able to work wonders?
In the end, making a final diagnosis based on signs of Down syndrome may be erroneous, of course, doctors warn you about this, but if you do kill your healthy or unhealthy child, who knows if you can have the right for life, not to mention the subsequent birth of another child …
You can find about other diseases of the nervous system here:
Newborn babies with down syndrome | VitaPortal – Health and Medicine
Tatyana Myakshina January 24, 2013
There is a theory that newborns with signs of Down syndrome have a characteristic difference by which it is possible to determine the disease and even the degree of its development – the shape of the skull. American doctor John Down studied this issue and identified 5 subgroups of people who may have signs of this disease.
Symptoms of Down Syndrome in Newborns
Newborn babies with Down syndrome, as a rule, are born without any characteristic signs of illness. Detecting signs of the disease is not always possible, but this can be done with the help of some characteristic features of the syndrome in a child.
- Raised corners of the eyes – the effect of oblique incision.
- Flat, slightly flattened in one direction, head shape.
- Reduced oral cavity, and therefore the child’s tongue may involuntarily protrude. In most cases, this habit can be eliminated.
- The broad palm may have a transverse crease and short fingers with a little finger folded inward.
- “Looseness” of muscles and joints, general lethargy.
- Small stature and low weight – below average.
After identifying similar symptoms to a newborn baby with suspected Down syndrome, a chromosomal test is performed to confirm or deny the diagnosis. This type of deviation is directly related to changes at the genetic level. Other diseases have nothing to do with it.
Problem moments in newborns with Down syndrome
Many parents are perplexed by the fact that a child’s Down syndrome is manifested not only in appearance, but also by the presence of many comorbidities. Unfortunately, these children are at risk for numerous diseases. Consequently, problems such as:
- visual and hearing vulnerability – abrupt, spontaneous changes;
- problems with the digestive system, malfunctions of the gastrointestinal tract;
- poor development of motility, bone tissue, muscles and joints;
- high levels of infectious diseases of various origins;
- problems with pulmonary insufficiency;
- blood diseases, including leukemia.
There are more cases when parents leave such children in maternity hospitals, fearing responsibility. Do not do such rash actions, because Down’s disease is quite adaptive to social life.
Symptoms of Down syndrome in the fetus and in the newborn child.
Down syndrome is one of the most common congenital genetic abnormalities in children. This pathology occurs even during the formation of the female and male sex cells, or at the time of fertilization. Kids with Down syndrome have 47 chromosomes, not 46, like in healthy people.
The causes of this genetic disorder have not yet been fully studied, but it has been proven that the risk increases with increasing age of the woman. In this regard, the age of a pregnant woman (over 35) is considered dangerous. The probability of having a child with Down syndrome also increases in families that already have a baby with this disability.
Medicine does not consider Down syndrome a disease. This is a series of symptoms that occur in the human body with an increase in the number of chromosomes. The syndrome can be diagnosed during pregnancy or in a newborn baby. Modern technologies make it possible to identify signs of pathology from the 12th week of pregnancy, but the final diagnosis can be established only after birth.
Identification of signs of Down syndrome during pregnancy.
Starting from the 12th week of pregnancy during the ultrasound, it is already possible to identify some signs of the syndrome. But accurate diagnosis is possible only with the use of invasive methods that are associated with the risk of miscarriage or premature birth. Such studies are carried out only according to indications and with the consent of the pregnant woman.
At week 14, with serious suspicion, chorionic biopsy or placentocentosis is performed. These procedures, although they involve high risks for the fetus, are quite reliable diagnostic methods. Since the 20th week, amniocentosis and cordocentosis are carried out, which are also unsafe, so many women refuse these procedures because of the risk of losing a child.
Possibilities of ultrasound in determining Down syndrome.
To suspect an anomaly in a child during the first ultrasound, it should be pronounced. For example, the nasal bone of the fetus is absent or has small dimensions. Also measure the thickness of the collar space, which should not exceed
In later periods, the specialist conducts a survey consisting of a set of specific markers:
– an increase in the neck area;
Down Syndrome: Signs, Causes, Risk Assessment | ABC of health
Is it possible to pass Down syndrome by inheritance?
Trisomy of chromosome 21 (and this is approximately 90% of cases) is not inherited and is not inherited; the same applies to the mosaic form of pathology. The translocation form of the disease can be hereditary, if one of the parents had a balanced chromosomal rearrangement (this means that part of the chromosome changes places with part of some other chromosome, without leading to pathological processes). When such a chromosome is transmitted to a subsequent generation, an excess of chromosome 21 genes occurs, leading to the disease.
It should be noted that children born to mothers suffering from Down syndrome in 30-50% of cases are born with the same syndrome.
How to learn about Down Syndrome during pregnancy?
Since the causes of Down syndrome in the fetus are genetically determined, this pathology of the child can be recognized even in the womb. If Down syndrome is suspected, signs of pregnancy are determined in the first trimester.
Diagnosis of Down syndrome in the first trimester is a combined screening analysis that determines the risk of the development of this pathology in the fetus. The study is conducted strictly in the period from 11 to 13 weeks and 6 days of pregnancy.
- Determination of the level of? -Subunit of chorionic gonadotropin (pregnancy hormone hCG) in the venous blood of the mother. With this chromosomal pathology of the fetus, an elevated level of the CG subunit of more than 2 MoM will be determined;
- Determination of the level of PAPP-A – a protein-A of the blood plasma of a pregnant woman associated with pregnancy. The high risk of the syndrome is associated with an indicator of PAPP-A of less than 0.5 MoM;
- Determination of the thickness of the collar space using fetal ultrasound. In Down syndrome, this indicator exceeds 3 mm.
When combined with the three indicators described, the probability of Dine’s syndrome in the fetus is 86%,
In this study, chorionic villi are collected through the cervix, which are sent for genetic research, the results of which can be used to confirm or deny this diagnosis with absolute certainty. The study does not belong to the group of mandatory, the decision to conduct it is taken by parents. Since it carries with it a certain risk for the further course of pregnancy, many reject such a diagnosis.
Diagnosing Down Syndrome in the Second Trimester is also a combined screening that takes place between 16 and 18 weeks.
- Determining the level of hCG in the blood of a pregnant woman – in Down syndrome, the indicator is higher than 2 MoM
- Determining the level of a-fetoprotein in the blood of a pregnant woman (AFP) – in Down syndrome, the index is less than 0.5 MoM;
- The definition of free estriol in the blood – an indicator of less than 0.5 MoM is characteristic of Down syndrome;
- The definition of inhibin A in a woman’s blood is more than 2 MoM characteristic of Down syndrome;
- Ultrasound of the fetus. If there is Down’s syndrome, the signs of ultrasound will be as follows:
- smaller fetuses relative to the norm for a period of 16-18 weeks;
- shortening or absence of the nasal bone in the fetus;
- size reduction of the upper jaw;
- shortening of the humeral and femoral bones of the fetus;
- increase in bladder size;
- one artery in the umbilical cord instead of two;
- lack of water or lack of amniotic fluid;
- heart palpitations in the fetus.
With a combination of all signs, the woman is offered an invasive diagnosis for genetic research:
- transabdominal aspiration of placental villi;
- transabdominal cordocentesis with puncture of umbilical cord vessels.
The selected material is studied in the genetic laboratory and allows you to accurately determine the presence or absence of this pathology in the fetus.
In 2012, British scientists developed a new high-precision test for the presence of Down Syndrome in a fetus, the result of which is estimated at 99%. It consists of a study of the blood of pregnant women and is suitable for absolutely all women. However, while it is not introduced into world practice.
How is the question of termination of pregnancy in determining the high risk of Down syndrome in the fetus?
When children are born with Down syndrome, the causes of the genetic failure that occurred are truly impossible to establish. Many parents perceive this as a test, and consider themselves endowed with a special function of the upbringing and development of such a child. But before every pregnant woman with a high risk of this pathology there is a question about deciding the fate of her pregnancy. The doctor does not have the right to insist on interruption, but he is obliged to clarify this issue and warn about all the possible consequences. Even when pathologies that are incompatible with life are discovered, no one has the right to incline a woman to the decision to have an abortion (see the consequences), and even more so to force it to do so.
Thus, the fate of pregnancy with the pathology of the fetus is decided only by parents. Parents have the right to repeat the diagnosis in another laboratory and clinic, to consult several geneticists and other specialists.
Symptoms of Down Syndrome in a Newborn
Symptoms of Down syndrome in newborns are determined immediately after birth: