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Patau Syndrome: Causes, Symptoms And Life Expectancy Of Diagnosed Babies - AsiaOne
Parents, have you heard of the condition Patau syndrome? Well, if you haven't, read on and learn how this can affect your baby's life.
Miscarriages and stillbirths are caused by chromosomal abnormalities. Disorders, such as Down syndrome and other developmental delays or health problems, can have serious consequences.
Individuals with Patau syndrome have three copies of each chromosome instead of the typical two.
The problem may have a variety of effects on the baby's development. To find out more about the variables that might impact this condition's life expectancy, keep reading.
What is Patau syndromeThe presence of an extra copy of chromosome 13 in part or all of the body's cells results in Patau syndrome, a serious rare genetic condition.
The genes you inherit from your parents are carried by 23 pairs of chromosomes that are typically found in each cell.
But chromosome 13 is present in three rather than two copies in infants with Patau syndrome.
This gravely impairs the course of normal development and frequently leads to miscarriage, stillbirth, or the infant passing away soon after birth.
Low birth weight and sluggish womb growth are only two of the significant health issues that Patau syndrome babies experience.
Trisomy 13Another name for Patau syndrome is trisomy 13. This condition affects newborns who have three copies of the genetic material on the thirteenth chromosome.
While the thirteenth chromosome contains two copies of genetic material in healthy newborns. The problem may have a variety of effects on the baby's development.
About one in every 5,000 babies is affected by Patau syndrome. The age of the mother increases the likelihood of having a baby with the condition.
What causes trisomy 13Patau syndrome develops accidentally and is not brought on by the parents' actions. The majority of cases of the syndrome are not inherited and do not run in families.
When the sperm and egg join and the baby begin to develop, they happen at random during conception.
When cells divide incorrectly, chromosome 13 is produced in excess or partially, which has a negative impact on the unborn child's ability to develop normally in the womb.
Three variations of trisomy 13There are three variations of this condition, and each of these variations affects the average life expectancy for people with trisomy 13.
Full trisomyA baby with this syndrome has an extra copy of chromosome 13 in every cell of their body.
Partial trisomyPatients with this disorder only have an additional portion of chromosome 13 connected to another chromosome in the cells, not a full extra copy.
MosaicPeople with this condition have a whole additional copy of chromosome 13, yet part of the body's cells do not contain it.
Features of Patau syndromeNumerous health issues can affect babies with Patau syndrome.
Eight out of ten will be born with significant heart problems since their growth in the womb is frequently constrained, resulting in low birth weight.
The brain frequently does not split in half. Holoprosencephaly is the medical term for this.
When this occurs, it may damage the features of the face and result in problems like:
Other facial and cranial anomalies include:
Patau syndrome can potentially result in additional issues like:
Additionally, there could be anomalies with the hands and feet, such as polydactyly, which is the presence of extra fingers or toes, and rocker-bottom feet, which have rounded bottoms.
Can Patau syndrome be detected in pregnancy?Yes, trisomy 13 or Patau syndrome can be detected prenatally, through chorionic villus sampling or amniocentesis.
There is also a common feature among trisomy 13 babies that was observed through ultrasound is the thickened area at the back of the baby's neck, referred to as the nuchal translucency.
NIPT testNoninvasive prenatal tests or NIPT is provided between 10 and 14 weeks of pregnancy. Prenatal tests such as maternal blood screens, foetal ultrasounds, chorionic villus sampling, and amniocentesis are frequently used to identify Patau syndrome.
If Patau syndrome is not identified during pregnancy and the infant is born, the symptoms are immediately visible. Genetic testing is necessary to establish the correct diagnosis because Patau syndrome might be confused with Edwards syndrome.
To check for brain, heart, and renal problems, imaging examinations like computed tomography (CT) or magnetic resonance imaging (MRI) should be performed.
Given the high prevalence of heart problems linked to Patau syndrome, an echocardiogram (ultrasound of the heart) should be performed.
Trisomy 13 life expectancyEven though the illness is extremely uncommon, some babies are nonetheless born with it. Heart problems are among the severe mental and physical impairments that can result from the illness.
Many infants with Patau syndrome have stillbirths or pass away during the first few days of life. If there are no acute health issues that could endanger the baby's life, it is difficult to estimate its lifespan.
The primary method of treating Patau syndrome is by addressing the distinct physical problems that every child is born with.
Many newborns struggle to survive their first few days or weeks because of serious brain disorders or intricate cardiac issues.
Repairing cardiac problems or cleft lip and cleft palate may need surgery. Individuals with Patau syndrome can achieve their full developmental potential with the aid of physical, occupational, and speech therapy.
Can Patau syndrome be prevented?Patau Syndrome is a condition that can be genetic or occurs randomly during conception.
According to Children's Hospital of Philadelphia, there is no scientific evidence that points to anything that a parent could have done to cause trisomy 13.
Unfortunately, they also can not do anything to prevent it from happening to their child.
Coping with trisomy 13If your baby has already received a Patau syndrome diagnosis, your healthcare provider will go over your options with you. While some parents choose to abort the pregnancy, others choose aggressive intervention.
Others will carry on with the pregnancy and continue to take care of the child.
Even though the child's chances of survival are so slim, some parents nevertheless opt to try intensive care to extend the child's life.
Because these decisions are so deeply personal, you, your partner, and your healthcare practitioner must make them.
ALSO READ: Important things you should know about child body dysmorphic disorder
This article was first published in theAsianparent.
Trisomy 13: Diagnosis, Causes, Prognosis, And More - Healthline
A baby's genetic makeup is determined when the sperm meets the egg during fertilization. Typically, a full set of DNA is formed, which contains 23 pairs of chromosomes. Sometimes, extra chromosomes are shared, resulting in what is called a trisomy.
Patau syndrome is also known as trisomy 13. It means that a person has an extra copy of chromosome number 13.
Keep reading to learn more about what causes this syndrome, what the symptoms are, and what you can expect after diagnosis.
Trisomy 13 is a rare genetic disorder that affects around 1 in every 7,409 births in the United States. It is present when there are three copies of chromosome 13 instead of the usual two in each cell in the body.
A child who does survive may have a low birth weight and other serious medical issues.
Variations
If there is a complete extra copy of chromosome number 13 in each cell, the condition is called trisomy 13.
Sometimes this extra genetic information gets split between chromosome 13 and another chromosome — a translocation. This happens about 10 percent of the time.
In about 5 percent of individuals with trisomy 13, the extra copy of chromosome 13 only affects some cells and not all. When this happens, it's called trisomy 13 mosaicism or partial trisomy 13. For individuals with mosaic trisomy 13, the signs and symptoms are generally less severe, and children may live longer.
Support for families experiencing trisomy 13Here are support groups for parents and families impacted by trisomy 13:
In most cases, trisomy 13 happens spontaneously soon after the sperm and egg meet. The issue may arise as the reproductive material of either parent divides, or it may happen as cells divide after fertilization itself. In either of these cases, the extra chromosome happens at random.
That said, in rare cases, some people may pass a trisomy onto their child if they themselves have what is called a "balanced" translocation. This means that the parent carrier has a set of chromosomes that aren't the norm but that they are balanced, so they don't cause medical issues. However, when the parent with the balanced translocation has a child, the genetic information may be passed on and cause a trisomy 13 in the child.
Treatment for Patau syndrome is often targeted at whatever symptoms a child is experiencing. Instead of curative treatments, medical help tends to be focused on making the child comfortable, since many babies do not live long after birth.
Your doctor may assemble a healthcare team to provide care for various health conditions while working together. Treatments may eventually involve surgery — for heart issues, cleft palate or lip, or other conditions — physical therapy, and other medical or social services.
Children who live longer may also benefit from early intervention and special education programs as they grow.
Medical teams that may provide care for a child with trisomy 13The healthcare team for a child with Patau syndrome may include many healthcare professionals, such as:
Since most cases of Patau syndrome happen at random, it's possible to have a child with this condition even if you have no known risk factors.
The primary risk factor mentioned in the medical literature is paternal age. So, as a parent's age goes up, so does the potential for trisomy 13.
Again, the other risk factor is if either parent has a "balanced" translocation. This can be uncovered through genetic testing.
Your doctor may also suggest genetic testing if you already have a child with trisomy 13 (or another genetic condition) to determine if there's an inherited factor at play that may impact future pregnancies.
Trisomy 13 is a very serious but very rare condition. About half of all pregnancies involving trisomy 13 will result in pregnancy loss before the 12th week. According to a 2017 study, 84 percent of pregnancies involving trisomy 13 that reach 39 weeks result in a live birth.
However, more than 90 percent of infants with trisomy 13 will not survive their first year. Most babies with this rare condition live only 7 to 10 days.
Around 5 percent of children with trisomy 13 will live beyond the first year, though they will likely have growth and developmental delays.
Some children with trisomy 13 may live longer, but this is extremely rare. Their outlook depends on a number of things, including the type of trisomy they have and associated conditions that have.
What Is Trisomy 8 Mosaicism Syndrome? - Healthline
What is trisomy 8 mosaicism?
Trisomy 8 mosaicism syndrome (T8mS) is a condition that affects human chromosomes. Specifically, people with T8mS have three complete copies (instead of the typical two) of chromosome 8 in their cells. The extra chromosome 8 appears in some of the cells, but not all. The symptoms of this syndrome vary considerably, ranging from undetectable to, in some cases, severe. The condition is sometimes called Warkany syndrome 2.
T8mS is a rare disorder, affecting males more often than females at a ratio of 4-to-1. T8mS is believed to occur in one out of every 25,000-50,000 pregnancies. The chances of having more than one T8mS pregnancy are extremely low.
T8mS is caused by a problem between the sperm and egg in which some cells don't divide properly. Cells don't divide at the same time, and chromosomes aren't distributed properly as a result. This process is called "non-disjunction." Depending on when the non-disjunction occurs during the baby's development, the organs and tissues affected by extra chromosomes can vary. The condition is most commonly a chance occurrence, but it is sometimes hereditary.
Symptoms of T8mS vary greatly. Some children born with T8mS have severe, highly visible physical symptoms while others display no visible symptoms. Possible symptoms include:
T8mS does not always affect intellectual development. Intellectual development will depend, in many ways, on the health of the child during key development stages. Other symptoms of T8mS may cause an infant to have speech or learning delays. But those delays are a result of the child's physical limitations, not their mental capabilities. Often, children with T8mS "catch up" to their peers in speech and learning. There are cases where individuals with T8mS do not seem to have an intellectual impairment at all.
This condition often goes undiagnosed, because there may be no detectable symptoms. In cases where T8mS is suspected in an infant or adult, the doctor may take a blood or skin sample and perform a cell analysis. This test does not determine the severity of symptoms. Instead, it just indicates whether T8mS is present.
In most cases, a doctor diagnoses T8mS during pregnancy or early childhood. There are now blood tests that women can take during pregnancy to determine whether the baby they are carrying is likely to have T8mS. If the doctor notices that the baby is measuring small, has only one artery in the umbilical cord, or shows other signs indicating a trisomy, they will prescribe more testing for the baby.
Other kinds of trisomy include Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13). All of these syndromes are the result of extra chromosomes in a person's DNA, but the symptoms of each are vastly different.
People with T8mS are more likely to develop Wilms' tumors, a kidney cancer found in children. There is also increased potential to develop myelodysplasias, which are bone marrow conditions. Myeloid leukemia, a form of cancer that affects myeloid tissue, is also a possible complication.
More research is needed to identify the complications that may arise from T8mS. The outcome is hopeful for many children that are born with this syndrome. However, there's no definitive method of treatment and no way to correct the chromosomal abnormality itself.
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