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Patau’s syndrome is the rarest and most severe form of trisomy found in live-born babies. The essence of this syndrome is the presence of an extra (third) copy of chromosome 13 in the cells of the body.
Proper development of the human body requires the presence of 2 (and only 2) copies of human autosomal chromosomes. The presence of a third copy of a chromosome is usually lethal to the developing embryo. Therefore, trisomy 13 belongs to a narrow group of trisomy, consisting of only three diseases, in which it is possible to develop the embryo and then the fetus until its birth.
Patau’s syndrome occurs in 1 in 8-000 births. Although the direct cause of the disease has not yet been identified, the risk of developing the disease increases with the age of the mother. Patau’s syndrome is expressed already in the fetal period. Its full symptoms are visible right after the baby is born. In most cases, fetuses with trisomy 12 either die in the uterus or are stillborn. The death rate in the neonatal period is also very high. Progressive developmental impairment is seen in babies who survive for more than 000 month. The average life expectancy of children with this genetic defect is just over 13 years. Some children reach adolescence. Case reports of people with Patau’s syndrome reaching adulthood are rare.
Girls are slightly more common among children with Patau’s syndrome. This is probably because male fetuses die more frequently in the womb.
Patau’s syndrome can develop as a result of the spontaneous duplication of chromosome 13 or, less commonly, the so-called Robertsonian translocation with the presence of an extra 13th chromosome attached to another chromosome, or when only part of the 13th chromosome has doubled. If a Robertsonian translocation has occurred, one of the parents is likely a carrier (although healthy). The presence of translocation can be determined by performing parents’ karyotype (blood test) test. Sometimes there is a mosaic phenomenon. It is based on the presence of an extra 13th chromosome only in some cells of the body. The severity of the disease then depends on the proportion between “healthy” and abnormal cells.
All doubts should be consulted quickly with a specialist. In the current situation, it is worth using a safe consultation in the form of online consultation with a gynecologist.
Patau’s syndrome is usually finally diagnosed shortly after the baby is born on the basis of the presence of birth defects and a neurological examination. It seems that the systems most sensitive to the presence of abnormalities in the genetic material are the central nervous system and the circulatory system.
Babies with Patau’s syndrome at birth usually receive a low Apgar score. Birth defects visible immediately after birth are usually a cleft lip and / or palate, complete absence or deformation of the nose, microcephaly (microcephaly), microophthalmia (small eyes), anophthalmia (no eyeballs), hypotelorism (reduced distance between the eyeballs), dried foot (lifting or inversion of the longitudinal arches of the foot, setting the tarsus in plantar flexion, with the forefoot raised upwards), polydactyly (extra fingers and / or feet), umbilical hernia and neural tube defects. In the majority (80%) of cases, the presence of heart defects is observed, i.e. patent ductus arteriosus, ventricular and / or interatrial septal defects, and dextrocardia (the location of the heart on the right side of the chest). Holoprosencephaly is also common, i.e. a situation in which the brain has not been fully divided into the left and right hemispheres. It is the cause of severe neurological disorders.
Due to the high risk of death immediately after birth, any possible decisions regarding the operation (e.g. palate reconstruction) are postponed until later in the child’s life.
The most common causes of death in children with Patau’s syndrome include: circulatory and respiratory failure, congenital heart defects, and pneumonia. Severe mental retardation and developmental delay are observed in people with this syndrome of congenital malformations. These children are at increased risk of cancer.
In some cases, abnormalities suggesting Patau’s syndrome can already be found in routine examinations performed in the first trimester of pregnancy (ultrasound with neck translucency assessment, PAPPA test). The way in which pregnancy is to be continued depends on its stage at the time of diagnosis.
You should discuss with your gynecologist the possibilities of managing and / or terminating the pregnancy. The doctor may then recommend delivery in a specialized reference center (due to the possible need for resuscitation of the newborn).
For this reason, during pregnancy, it is worth considering purchasing a medical subscription for pregnant women, which will allow you to perform all the necessary tests and provide professional care at every stage of pregnancy.
If Patau’s syndrome is suspected only after the baby is born, cytogenetic testing is required to make a final diagnosis. Due to the frequent occurrence of heart defects, it is also necessary to have the baby’s heart ECHO performed. Imaging tests such as computed tomography (CT) or magnetic resonance imaging (MRI) are also often performed in search of abnormalities in the brain or kidneys.
During the entire diagnostic process, help from the genetic clinic is extremely important, where parents have the opportunity to obtain information on, among others, the mechanism of the defect occurrence (spontaneous trisomy or the carrier of an additional fragment of chromosomes in one of the parents), prognosis, risk of defect occurrence in subsequent children, etc.
In such a situation, it is worth considering the purchase of the Healthy Child – Home Blood Collection package. It is a package of 9 blood tests that will allow you to quickly and safely determine the cause of your baby’s ailments without leaving home.
The risk of Patau’s syndrome in the next child strictly depends on the underlying cause of the disease in the first offspring as well as on the age of the mother. With spontaneous trisomy, the risk of trisomy 13 (and trisomy 21 and 18 – Down syndrome and Edwards syndrome, respectively) increases by 0,5% compared to an already existing risk due to the mother’s age.
In the case of the so-called Robertsonian translocation, the risk may range from a few to even 100%. They are determined individually on the basis of the result of genetic tests.
Read also: Some diseases caused by chromosomal abberations
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