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The cause of atresia ani, the condition of the baby born without anus

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Atresia ani is a type of birth defect in which babies are born without an anus. The main cause of atresia ani in newborns comes from the period of fetal development, namely at 5-7 weeks of gestation. So, what causes atresia ani in newborns?

Causes of atresia ani in newborns

The anus is an important part of the digestive system because this is where the body removes food waste in the form of feces.

The development of the large intestine and urinary tract begins in the first three months of pregnancy. There are several steps that must be passed to separate the rectum and anus from the urinary tract.

However, sometimes these stages do not take place perfectly. The rectum and anus eventually fail to develop and do not form normally until the baby is born.

It is not yet known what causes atresia ani in newborns. The condition of babies born without anus can even occur randomly.

In some cases, atresia ani can be passed from parents through certain genes in the following three possibilities:

1. The dominant gene

Fetal genetic traits are obtained from the genes of the father and mother. One of the genes that the father or mother has can carry disease.

If the disease comes from a dominant gene, that gene will dominate (control) other genes that are healthier.

The risk of disease originating from a parent's dominant gene can be as high as 50 percent. This means that every time you carry a fetus, there is a 50 percent chance that your baby will be born with the disease.

2. Recessive genes

Researchers believe that the cause of atresia ani in newborns could also be related to recessive genes, aka weaker ones. Like dominant genes, recessive genes are also found in the genes of the father and the genes of the mother.

If the fetus inherits recessive gene disease from only one parent, the disease will not appear. A new disease will appear when both parents pass on a recessive gene disease to the fetus.

3. X chromosome

Males have an XY chromosome, while females have an XX chromosome. The X chromosome in both males and females can sometimes be carriers of disease. However, the conditions can be different in each sex.

Since males only have 1 X chromosome, any disease carried by this chromosome will appear in their body. Conversely, disease does not necessarily appear in the female body because it can be covered by normal X chromosomes.

Signs of atresia ani in newborns

Although the cause of atresia ani in newborns is unknown, you can recognize the signs to avoid complications. Signs of atresia ani can usually be seen soon after the baby is born, including:

  • The absence of an anal opening
  • The anal opening is in the wrong position or is too small
  • The baby's stomach looks swollen
  • Babies do not pass stool for 24-48 hours from birth
  • Stool passes from the urethra, vagina, or the lower part of the penis
  • There is a type of connecting opening called a fistula between the rectum and urethra (urethra), bladder, or vagina
  • A cloaca is formed, which is when the rectum, urethra, and vagina fuse together to form the same opening

Treatment of atresia ani depends on the symptoms, severity, age, and general health condition of the child. Most of them are treated with surgery.

Surgery does have the risk of causing side effects such as bleeding and infection. However, you can prevent this by applying postoperative care as recommended by your doctor.


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The cause of atresia ani, the condition of the baby born without anus
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