Edward's syndrome is genetic disorderg is caused by the presence of an extra copy of chromosome 18. Therefore, this disorder that causes disturbances in many parts and organs of the body is also called trisom 18.
Edward's syndrome is a rare condition that affects only 1 in every 5,000 births. In fact, most babies who suffer from this disorder die in the womb. 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 a genetic disorder that occurs when there is one extra copy of chromosome 18. Chromosomes are ribbon-like structures in the nucleus of cells that carry genetic information.
Normally, every human being has 46 chromosomes, of which 23 chromosomes come from egg cells and another 23 chromosomes come from sperm cells. However, in the case of Edward's syndrome, chromosome 18 has one extra copy, resulting in a total of 3 copies. This condition causes the development of organs to be abnormal.
Edward's syndrome or trisomy 18 is divided into 3 types, namely:
Trisomy 18 mosaic
Mosaic trisomy 18 is the mildest type of Edward's syndrome, because the extra copy of chromosome 18 is found in only a few cells of the body. Most babies with Edwardian mosaic syndrome survive up to a year, even into adulthood. Mosaic trisomy 18 occurs in 1 in 20 infants with Edward's syndrome.
Trisomy 18 partial
Partial trisomy 18 occurs when the extra copy of chromosome 18 is incomplete or only partially formed. This incomplete extra 18 chromosome may be attached to another chromosome in the egg or sperm cell (translocation). Partial trisomy 18 is very rare, only 1 in 100 cases of Edward's syndrome.
Trisomy 18 in total
Total trisomy 18 is the most common type of Edward's syndrome, in which a complete extra copy of chromosome 18 is present in every cell of the body.
Edward's Syndrome risk factors
Every pregnant woman can give birth to a baby who suffers from trisomy 18. However, mothers who are pregnant at an old age are more at risk of giving birth to babies with this condition, especially mothers who are pregnant at the age of more than 35 years.
Although it generally occurs randomly, one type of trisomy 18, namely partial trisomy 18, can be influenced by heredity. This occurs when parents are carriers (carrier) trisomy 18 disorder. A carrier has a gene abnormality in trisomy 18 that does not cause symptoms, but can pass on the genetic abnormality in children.
Symptoms of Edward's Syndrome
Babies born with Edward's syndrome are usually small and look weak, and have health problems or physical abnormalities, such as:
- Harelip
- Chest and leg deformities
- Abnormalities in the lungs, kidneys, stomach and intestines
- Heart defects, such as a ventricular septal defect or atrial septal defect
- Form a clenched fist with fingers overlapping and difficult to straighten
- Small head (microcephaly)
- Small jaws (micrognathia)
- Weak crying sound
- Low ear position
- Slow growth
When to go to the doctor
Although most cases of Edward's syndrome are not caused by heredity, it's best to have a genetic consultation or examination before planning to have children. A genetic consultation and examination can help you find out the following:
- Are you a carrier for partial trisomy 18?
- How big is your risk of passing the disorder on to your child?
- What are the risks that will arise if the disorder is decreased in children?
In addition, do routine pregnancy control according to the specified schedule. This routine control is carried out once a month at 1-6 months of pregnancy, twice a month at 7-8 months of pregnancy, and once a week after 9 months of pregnancy.
Edward's Syndrome Diagnosis
Edward's syndrome in pregnant women with a gestational age of 10-14 weeks can be detected through screening tests (screening test) is called a combination test. In addition to detecting Edward's syndrome, the combination test can also detect the possibility of a fetus having Down's syndrome and Patau's syndrome.
In a combination test, the doctor will run blood tests and ultrasound to measure the fluid nuchal translucency on the back of the neck of the fetus.
If a combination test is not possible or the gestational age is more than 14 weeks, Edward's syndrome screening will be performed during a routine ultrasound at 20 weeks gestation.
If the screening shows signs of Edward's syndrome in the fetus, the doctor will recommend the following tests to confirm the presence of an extra copy on chromosome 18:
- Chorionic villus sampling, namely the examination of placental cell samples carried out at 11-14 weeks of gestation. CVS is done by inserting a needle into the pregnant woman's abdomen, or by inserting a special tool through the cervix.
- Amniocentesis, namely the examination of amniotic fluid samples carried out at 15–20 weeks of gestation. Amniocentesis This is done by inserting a needle into the abdomen of a pregnant woman to the uterus.
In babies born with trisomy 18, doctors can immediately detect it by looking at the baby's physical appearance. To confirm the diagnosis, the doctor will take a sample of the baby's blood to check for possible abnormalities on chromosome 18.
Edward's Syndrome Treatment
Treatment of Edward's syndrome aims to relieve symptoms, especially shortness of breath and heart problems. Treatment also aims to help patients in their activities, for example in children whose movement abilities are impaired with age.
Please note, Edward's syndrome can not be treated. In fact, half of the fetuses who suffer from this disease die in the womb and only 10% can survive to 1 year.
Some babies with Edward's syndrome can live beyond 1 year, but often have illnesses that require intensive care. Very few survive into their 20s and 30s.
Complications of Edward's Syndrome
Complications that may arise from Edward's syndrome depend on the symptoms experienced. Some of the complications that can occur are:
- Eating disorders
- Seizures
- Difficult to breathe
- Deaf
- Visual disturbance
- Heart failure
Edward's Syndrome Prevention
As explained above, Edward's syndrome is caused by a genetic disorder. Therefore, this disorder cannot be prevented. However, to reduce the risk of Edward's syndrome to the fetus, you should do a consultation or genetic examination before planning a pregnancy.
A doctor's check before planning a pregnancy is necessary if you or your partner have a family history of Edward's syndrome or other genetic disorders.