Edward's syndrome

Edward's syndrome

Edward's syndrome is a genetic abnormality caused by the presence of an extra copy of chromosome 18. This abnormality, also called trisomy 18, causes defects in many organs of the baby's body.

Edward's syndrome is a rare condition, which is only about 1 in every 5,000 births. In most cases, babies with Edward's syndrome die while still in the womb. While babies born with Edward's syndrome are usually short-lived because many of their organs are deformed.

Trisomy 18 is the second most common type of chromosomal abnormality after trisomy 21 ( Down's syndrome ).

Causes of Edward's Syndrome

Edward's syndrome is caused by the presence of an extra copy of chromosome 18. Chromosomes are ribbon-like structures in the cell nucleus that carry genetic information.

Normally, every human has 46 chromosomes, 23 chromosomes from the mother and another 23 chromosomes from the father. However, in Edward's syndrome, chromosome 18 has an extra copy, making it three. This condition causes body organs to develop abnormally.

Edward's syndrome or trisomy 18 is divided into three types, namely:

Trisomy 18 mosaic

Mosaic trisomy 18 is the mildest type of Edward's syndrome, because the extra copy of chromosome 18 is only found in some cells of the body.

Most babies with Edward mosaic syndrome can survive up to 1 year, even reaching adulthood. Mosaic trisomy 18 occurs in 1 in 20 babies with Edward's syndrome.

Partial trisomy 18

Partial trisomy 18 occurs when an extra copy of chromosome 18 is incomplete or only partially formed. This incomplete extra chromosome 18 may be attached to another chromosome in the egg cell or sperm cell (translocation).

Partial trisomy 18 is very rare, only 1 in 100 cases of Edward's syndrome.

Trisomy 18 total

Total trisomy 18 is the most common type of Edward's syndrome. In this type, an extra copy of the complete chromosome 18 is present in every cell of the body. Generally, this type causes more severe symptoms.

Risk factors for Edward's Syndrome

Every pregnant mother can give birth to a baby suffering from trisomy 18. However, mothers who get pregnant at an older age are more at risk of giving birth to a baby with this condition, especially those who get pregnant over the age of 35.

Although it generally occurs randomly, partial trisomy 18 can be influenced by hereditary factors. This happens when parents become carriers of trisomy 18. It should be noted that a carrier of trisomy 18 does not experience symptoms, but can pass the genetic abnormality to the child.

Symptoms of Edward's Syndrome

Babies born with Edward's syndrome are usually small and look weak, and have health disorders or physical abnormalities, such as:

  • Cleft lip
  • Abnormalities of the shape of the chest and legs ( clubfoot )
  • Abnormalities in the lungs, kidneys, stomach and intestines
  • Heart abnormalities, such as ventricular septal defect or atrial septal defect
  • The shape of a clenched hand with the fingers overlapping and difficult to straighten
  • Small head shape ( microcephalus )
  • Small jaw shape (micrognathia)
  • A weak cry
  • Low ear position
  • Slow growth

When should you go to the doctor?

Although most cases of Edward's syndrome are not caused by hereditary factors, it is best to do a genetic consultation or examination before planning to have offspring. Genetic consultation and examination can help you find out a number of the following things:

  • Chances are you carry a partial trisomy 18 abnormality
  • The potential of the abnormality decreases to the child
  • The risk that will arise if the abnormality is passed down to the child

In addition, perform routine pregnancy control according to the schedule determined by the doctor. This routine control is performed once a month at the age of 1-6 months of pregnancy, twice in each month at the age of 7-8 months of pregnancy, and once a week after the pregnancy reaches the age of 9 months.

If your baby is born with symptoms of Edward's syndrome, such as a cleft lip or leg deformity, immediately take him to the doctor to get treatment as soon as possible.

Diagnosis of Edward's Syndrome

Edward's syndrome in pregnant women with a gestational age of 10-14 weeks can be detected through chromosomal examination . This examination can also detect the possibility of the fetus suffering from Down syndrome and Patau syndrome .

In addition, doctors can also perform a combination of blood tests and ultrasound , to measure nuchal fluid translucency at the back of the fetus's neck.

If the combination test is not possible or when the patient's gestational age is more than 14 weeks, Edward's syndrome screening will be performed at the time of routine ultrasound at 20 weeks of gestation.

Doctors can detect signs of Edward's syndrome in the fetus when doing an ultrasound of the womb. Some of the signs are:

  • The fetus is not actively moving
  • There is an abnormality in the umbilical cord
  • The size of the placenta is small
  • Too much amniotic fluid around the fetus ( polyhydramnios )

If the screening shows signs of Edward's syndrome in the fetus, then the doctor will recommend the following tests to ensure the presence of an extra copy on chromosome 18 :

  • Chorionic villus sampling
    Chorionic villus sampling (CVS) is a placental cell sample examination performed at 11-14 weeks of pregnancy. CVS is performed by inserting a needle into the pregnant woman's abdomen or by inserting a special instrument through the cervix.
  • Amniocentesis
    Amniocentesis is an examination of a sample of amniotic fluid performed at 15-20 weeks of pregnancy. Amniocentesis is performed by inserting a needle into the pregnant mother's abdomen up to the uterus.

In babies born with trisomy 18, doctors can directly detect Edward's syndrome by looking at the baby's physical appearance. However, to strengthen the diagnosis, the doctor will examine the baby's blood sample.

Treatment of Edward's Syndrome

Edward's syndrome cannot be cured. In fact, 50% of fetuses suffering from this disease die in the womb and only 10% of babies with Edward's syndrome survive to the age of 1 year.

Some babies with Edward's syndrome can live past 1 year, but often suffer from illnesses that require intensive care. Only very few sufferers of Edward's syndrome can survive until the age of 20 to 30.

However, there are some treatments that can be done to relieve symptoms, especially shortness of breath and heart abnormalities . Treatment can also be done to help the child in activities, for example if the ability to move is disturbed.

Some treatments that can be done are:

  • Heart surgery
    Almost all cases of Edward's syndrome cause problems in the heart. To overcome it, the doctor can perform an operation. Even so, not all babies with Edward's syndrome can undergo heart surgery.
  • Feeding through
    Edward's syndrome can cause feeding disorders due to abnormal growth. The doctor can install a feeding tube ( nasogastric tube or orogastric tube ), so that the baby gets good food intake.
  • Bone repair procedures
    Babies born with Edward's syndrome can suffer from bone problems, such as scoliosis . To fix it, the doctor can suggest the use of a brace and surgery.

In addition to several methods above, both children and parents need psychological support. Parents will be explained about the causes and possible conditions that will occur in the child. The psychological support can help reduce the risk of stress or anxiety disorders.

Complications of Edward's Syndrome

Complications that can arise as a result of Edward's syndrome depend on the symptoms experienced. Some of the complications that can occur are:

  • Eating disorders
  • Convulsions
  • Difficulty breathing
  • Deaf
  • Visual impairment
  • Heart failure

Prevention of Edward's Syndrome

As explained above, Edward's syndrome is caused by genetic abnormalities . Therefore, this abnormality cannot be prevented.

However, to reduce the risk of Edward's syndrome in the fetus, it is best to do a genetic consultation or examination before planning a pregnancy, especially if you or your partner have a history of Edward's syndrome or other genetic disorders in the family.

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