TRISOMY 13: HOW IS IT DIAGNOSED?

Miscarriage and stillbirth are frequently the results of chromosomal abnormalities, which can be hereditary or acquired. Trisomy is a genetic abnormality in which a person has three copies of a certain chromosome rather than the normal two (human beings are supposed to have 46 chromosomes, which come in 23 pairs). Trisomies come in a variety of forms, such as Patau syndrome (trisomy 13), Down syndrome (trisomy 21), and Edwards syndrome (trisomy 18). The most severe trisomy is trisomy 13.

Physical deformities, intellectual difficulties, and organ malfunctions are common in children with trisomy 13. In most cases, the condition’s health issues lead to premature death during the first month or first year of life.

Every 16,000 births, a baby is born with a trisomy.

According to researchers, trisomy 13 is the most common cause of miscarriage or stillbirth in pregnant women.

Why some babies make it to term while others do not is a mystery to this day. The majority of newborns diagnosed with trisomy 13 at birth do not survive past the first week of life. For infants under one, the survival rate is exceedingly low (between 5 and 10 percent).

Finding Out If A Child Has Trisomy 13

An ultrasound and an alpha-fetoprotein test may be able to identify suspected chromosomal abnormalities, but they cannot provide a definitive diagnosis. Amniocentesis and CVS, two genetic tests, are the only ones that can provide a conclusive diagnosis. Even after a miscarriage or stillbirth, couples may discover trisomy 13 as the underlying cause of their loss using genetic karyotyping.

Babies with trisomy 13 frequently have small or underdeveloped eyes, extra fingers or toes, a cleft palate, and low muscle tone.

Some Trisomy 13 Subtypes

Patau syndrome, like other trisomy disorders, has three subtypes:

Full trisomy 13: The most prevalent kind. Those that fit this description have three complete copies of chromosome 13.

Partial Trisomy 13: People with this condition have two copies of chromosome 13 rather than the usual three.

Mosaic trisomy 13: Some cells in the body contained three copies of chromosome 13, while others had two.

Recurrence Probability

Trisomy 13 typically results from a random error in cell division during the development of the egg or sperm, meaning the abnormality is present at fertilization.

It is quite unlikely that the condition will recur in this instance. Chromosome 13 may be involved in a rare balanced translocation in the parent. People with a balanced translocation have an increased probability of having a child with partial trisomy 13 again.

How to Proceed After a Trisomy 13 Diagnosis

It’s common to be asked if you want to prolong your pregnancy or pursue rigorous treatment if your baby is born with health issues after receiving a diagnosis of trisomy 13. Due to the generally dismal prognosis and the desire not to prolong the agony of the loss, some parents terminate newborns identified with trisomy 13 during pregnancy. 

Some women choose to carry the pregnancy to term because they are morally opposed to abortion or just want to spend as much time as possible with their unborn child, no matter how brief that time may be. As with newborns diagnosed after birth, some parents decide for just comfort care while others prefer expensive medical interventions despite the fact that the baby’s odds of surviving childhood are bleak.

According to a study published last year, performing congenital heart surgery on babies with trisomy 13 may improve their odds of survival. Despite this lack of evidence, however, the study researchers continue to suggest that the surgery has a high risk for newborns who already have a very low probability of surviving.

If you learn that your child has trisomy 13, you may feel everything from grief to anger to a general sense of helplessness. It’s quite acceptable to take your time and think things through before making any judgments or plans. There is no “proper” way to feel about these diagnoses, and there is no single “correct” thing to do about it. Individual decisions are made by each person based on their personal preferences.

Any decision you make will not change the fact that you are allowed to grieve the loss of the child you had been expecting. Parents of children with trisomy 13 and other significant chromosomal diseases may benefit from joining support groups.

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