What Is Trisomy 13?


Trisomy 13 is a serious genetic disorder that results from the formation of an additional copy of the 13th chromosome in some or all of the body's cell.s Under normal conditions, the baby is born to have 23 pairs of chromosomes as carriers of genes from the elderly. But in the case of trisomy 13, the thirteenth pair of chromosomes has an extra copy so that the sum is three, not two. Infants suffering from trisomy 13 will experience a slow-growing growth since they are in the womb. Trisomy 13 will cause the baby to be born with a lower weight than normal weight and with other serious health problems.

Trisomy 13 is a rare condition with a case ratio of 1 to 16,000 per baby. However, this condition is somewhat deadly because nearly 90 percent of trisomy infants die before the age of one year. Only less than 10 percent of trisomy 13 infants can live longer.

Symptoms Trisomy 13
Trisomy 13 can cause a number of serious disorders in infants. Developmental disorders since in the womb cause some babies with trisomy 13 to have serious heart disease and holoprosencephaly (HPE), a condition in which the brain is not divided into two parts. In addition, some of the clinical signs that can result from trisomy 13 are:
  • The size of one or both eyes becomes smaller ( microphthalmia ).
  • Harelip.
  • Extra finger or toe ( polydactyly ).
  • The baby has no eyeballs, either one or both (a nopthalmia ) .
  • Scalp not coated skin (a plasia cutis ) . The intestines are out of the abdomen ( omphalocele ) .
  • Decreased normal distance between the eyes or other organs (h ypotelorism ) .
  • Developmental abnormalities in the nasal passages.
  • Deformity of deformities and deafness.
  • Microcephaly .
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The Cause of Trisomy 13
In most cases, trisomy 13 is not caused by genetics. Precisely this condition occurs randomly when the process of fertilization of the egg (ovum) by sperm until the fetus begins to develop. New abnormalities arise when the process of dividing the cells that cause the 13th chromosome pair has an extra copy, from which 2 chromosomes should be 3 chromosomes. The presence of these 3 chromosomes will disrupt the normal development of the fetus, resulting in the abnormalities mentioned. Suspected of continued maternal age during pregnancy, increasing the risk of trisomy 13. Generally trisomy 13 will cause the fetus to die in the womb ( miscarriage ) or the baby dies at birth.

Trisomy 13 is divided into 3 types, namely:

  • Simple Trisomy 13 . In this type, the presence of extra chromosomes on the 13th pair of chromosomes is found throughout the cell.
  • Mosaic trisomy 13 . In this type, the presence of extra chromosomes is found in some cells.
  • Partial trisomy 13 . In this type, only part of the extra chromosome is found in some cells.

Differences in the types of trisomy 13 will affect the symptoms that occur. Simple trisomy 13 has the toughest symptoms of two other types, which result in infant's age not lasting long.

Diagnosis Trisomy 13
Infants suspected of having trisomy 13 or Patau syndrome can be identified by examining cytogenetic analysis in infant blood. On the examination will be found extra copies of the 13th chromosome. Cytogenetic analysis may also be performed before the baby is born. Cytogenetic analysis is performed through samples taken from amniotic fluid with amniocentesis technique at 15 weeks 'gestation, or taking samples from the cord tissue (placenta) in 10-13 weeks' gestation. This examination is the best examination to diagnose trisomy 13 with 100% accuracy. But the action of amniocentesis is a risky action (invasive), with one risk is miscarriage.

Currently developing examinations with newer and non-invasive techniques for pregnant women, for screening of trisomy 13 disease in the womb with an accuracy of 94%. This examination was performed by using cell-free deoxyribonucleic acid (DNA) from the mother's blood sample. This technique is called n on-invasive prenatal testing (NIPT), which can be done since 10 weeks of pregnancy.

Another technique that can be used as a filter check is a combined test . This examination is performed at 10-14 weeks gestation by combining blood tests with ultrasound. Blood tests conducted focus on two proteins, namely human chorionic gonadotropin (hCG) and pregnancy associated plasma protein A (PAPP-A). The ultrasound in a combined test is called a nuchal translucency (NT) scan. This check serves to measure the folds behind the baby's shoulder. The results of the examination were then analyzed simultaneously by taking into account a number of factors, such as age, weight, and medical history. The results of this examination are divided into high probability and low probability. If the results obtained are high probability, it is recommended to perform a cytogenetic analysis.

Treatment Trisomy 13
Trisomy 13 is a very serious genetic disease. Until now there has not been found a method of treatment that can cure trisomy 13. However, treatment that focuses to overcome the symptoms experienced by the baby can still be done. For example, by reducing the pain and discomfort that the baby is experiencing or making sure the baby is getting a good feeding intake.

Trisomy 13 is not always fatal, but rarely patients who survive to adolescence, most die in the first year of life. Therefore, the doctor will be careful in deciding the appropriate method of treatment for the safety of the baby. Treatment for trisomy 13 cases may be therapeutic or surgical.

Parents of children with trisomy 13 are encouraged to perform genetic counseling and chromosome analysis. This genetic counseling aims to prepare and plan for future pregnancies.

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