Trisomy 18: Causes, Symptoms, Types, Diagnosis, Treatment and Prevention : Pathology

Trisomy 18, also referred to as Edwards syndrome, is a highly significant genetic disorder that has an impact on how your child's body grows and develops. Trisomy 18 is characterized by various birth abnormalities, low birth weight, and peculiar physical characteristics.

Anyone can be afflicted by Edwards syndrome (trisomy 18). The unexpected and arbitrary appearance of an additional copy of chromosome 18 is one of the disease's hallmarks. With a mother's age upon conception, the likelihood of producing a kid with Edwards syndrome (trisomy 18) rises. It is extremely rare (less than 1%) to become pregnant again and have a second child after giving birth to a child with Edwards syndrome (trisomy 18).

Causes Of Trisomy 18

Trisomy 18 (Edwards syndrome) is a condition in which there are three copies of chromosome 18 instead of the usual two.

There are 46 chromosomes in humans which are divided into 23 pairs. Your DNA, which serves as your body's handbook on how to form and function, is carried by chromosomes in your cells. Your parents each give you one set of chromosomes.

When cells form, they begin as a single fertilized cell in the reproductive organs (sperm in males and eggs in females). When cells divide (meiosis), they make copies of one another to form pairs. The duplicated cell has 23 chromosomes instead of 46, half as much DNA as the original cell, and a unique number for each pair of chromosomes.

When chromosomal pairs are meant to divide to produce eggs and sperm, there is a chance that they won't (perhaps because they are too sticky) and both copies will remain in the egg or sperm instead. These two copies combine with one from the other parent during fertilization to create a total of three copies. It is unpredictable and random, and it is not due to anything the parents did prior to or during pregnancy when there is an improper number of chromosomes.

A trisomy happens when a third copy of a cell joins a pair. Trisomy is short for "three bodies." When someone is diagnosed with Edwards syndrome, their cells contain a third copy of chromosome 18.

Symptoms Of Trisomy 18

The babies with trisomy 18 frequently have a wide range of major health issues and physical flaws, including:

• Cleft palate
• Hard to straighten clenched fists with overlapping fingers
• Lung, kidney, and stomach/intestine defects
• Deformed feet, also referred to as "rocker-bottom feet" due to their resemblance to the bottom of a rocking chair
• Feeding issues
• Heart defects, such as a hole in the upper (atrial septal defect) or lower (ventricular septal defect) chambers of the heart chambers
• Drooping ears
• Severe delays in development
• Chest malformation
• Sluggish growth
• Microcephaly, small head
• Micrognathia, a little jaw
• Poor cry

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Types Of Trisomy 18

There are three main types of trisomy 18:

• The complete 18th trisomy. Each cell of the newborn contains an extra chromosome. This type of trisomy 18 is by far the most common.
• Trisomy 18 in partially. Chromosome 18 is only partially present in the baby. That additional fragment might go to another chromosome in the egg or sperm. This sort of trisomy 18 is quite uncommon.
• Mosaic trisomy 18. The extra chromosome 18 is present partially in the baby's cells. Furthermore, this kind of trisomy 18 is rare.

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Diagnosis Of Edward Syndrome

Despite the fact that an ultrasound during pregnancy is not a reliable method for identifying trisomy 18, a doctor may be wary about it. More precise methods, such as amniocentesis or chorionic villus sampling, analyze the chromosomes of cells collected from the amniotic fluid or placenta.

The doctor may postnatally suspect trisomy 18 based on the baby's face and body. It is feasible to check for chromosomal abnormalities in a blood sample. The chromosomal blood test can also be used to determine the risk that the mother will have another child with trisomy 18.

If you're concerned that an earlier pregnancy put your child at risk for trisomy 18 while they were still in the womb, speak with a genetic counselor.

Your healthcare practitioner will offer various tests to diagnose your unborn child if they exhibit trisomy 18 (Edwards syndrome) signs during pregnancy. Among these tests are:

• Amniocentesis: To rule out any potential health issues in your unborn child, your doctor will remove a little sample of amniotic fluid between weeks 15 and 20 of your pregnancy.
• Chorionic villus sampling (CVS): Your doctor will remove a tiny sample of cells from your placenta between weeks 10 and 13 of pregnancy in order to check for any genetic disorders.
• Screenings: Your healthcare professional will analyse a sample of your blood after 10 weeks of pregnancy to determine whether your kid has trisomy 18, one of the frequent extra chromosome abnormalities.

Your baby's heart will be ultrasonically examined by your healthcare practitioner after birth to diagnose and treat any heart-related issues that may have arisen.

Also Read: Trisomy 13 (Patau Syndrome): Causes, Symptoms, Types, Diagnosis, Treatment And Prevention

Treatment Of Trisomy 18

Frequently, the illness is so severe that newborns who survive are given comfort care. However, depending on the severity of their diagnosis, each kid with Edwards syndrome (trisomy 18) has a different course of treatment. Trisomy 18 or Edwards syndrome is incurable.

Trisomy 18 (Edwards syndrome) therapy may involve:

• Treatment for cardiac issues: Trisomy 18 (Edwards syndrome) patients almost always experience cardiac issues. Some infants with cardiac issues brought on by Edwards syndrome (trisomy 18) may be candidates for surgery.
• Assisted feeding is sometimes necessary for children with Edwards syndrome (trisomy 18), as their delayed physical development makes it difficult for them to eat normally. If your infant experiences early feeding issues after birth, a feeding tube can be required.
• Orthopedic care: Your child's movement may be affected by spine issues such as scoliosis in children with Edwards syndrome (trisomy 18). Orthopedic treatment options include surgery or bracing.

Support is available for you, your family, and your kid with Edwards syndrome (trisomy 18), particularly if you need assistance coping with the death of your child or navigating your child's challenging diagnosis.

Prevention Of Trisomy 18

There is no method to prevent Edwards syndrome (trisomy 18), which is the outcome of a genetic mutation. However, you can dramatically lower the possibility of having a kid with Edwards syndrome (trisomy 18) if you are eligible for preimplantation genetic testing in conjunction with in vitro fertilization. Speak with your healthcare practitioner about genetic testing if you intend to get pregnant and want to know your likelihood of giving birth to a child who has a genetic disorder.

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