Patau’s Syndrome or Trisomy 13 has a Thai name: Patau’s Syndrome. It is an abnormality in the division of chromosomes during fetal development. There is an extra pair of chromosome 13, causing the baby to have abnormalities in the face, body, and various organs such as cleft lip and cleft palate, small head, or deafness, etc.
Although this syndrome is rare, But it is a serious symptom. Most babies with this syndrome die in utero or shortly after birth. There is also no definite cure. Therefore, only symptomatic treatment can be done. However, this syndrome can be detected during pregnancy. Therefore, it may help families be more prepared to raise infants with this syndrome.
Symptoms of Patau’s Syndrome
The extra number of chromosomes may cause parts of the baby’s body to develop imperfectly. causing many abnormalities The severity of symptoms may vary according to the type of symptom such as
- Small head, cerebral palsy, slow development
- Small eyes, may have only one eye or not both.
- The iris has a hole. The eyes are close together or may be combined into one eye.
- The nasal cavity is deformed.
- Deformed ears, low-set ears, can result in hearing problems or deafness.
- Cleft lip and cleft palate
- Small chin due to jaw failure (Micrognathia)
- Extra fingers (Polydactyly)
- There is only one handwriting line. Usually horizontal (Single Palmar Crease)
- Have a red birthmark
- Part of the body has no skin (Cutis Aplasia)
- Male infants have penises that are smaller than normal or have undescended testicles.
- A female baby has a larger than normal clitoris.
- deformed limb bones Muscle weakness from low muscle tension
- Hernia in the umbilical or groin area
- The abdominal wall does not close from Incomplete development while in the womb (Omphalocele)
- There is a cyst in the kidney.
- The fetus grows slowly and weighs little.
- The brain is incompletely divided into hemispheres. (Holoprosencephaly)
- Severe intellectual disability
- Severe heart disease
- Death: Most babies die in the womb. Causes miscarriage, stillbirth, and some babies may die one month or one year after birth.
Causes of Patau’s Syndrome
Normally, fetal chromosomes are divided into pairs, but in patients with Patau’s Syndrome, there is an abnormal division of chromosomes during fertilization of the egg and sperm. This causes one extra pair of chromosome 13, resulting in an abnormality. In some cases, it may be caused by switching between the 13th pair of chromosomes and a different pair (Chromosomal Translocation).
This syndrome may be divided according to the nature of the chromosome division of each cell, including:
- Full Trisomy 13: Every cell has an extra chromosome.
- Mosaic Trisomy, extra chromosomes in only some cells
- Partial Trisomy: Only some of the extra chromosomes in the cell.
Babies with mosaic and patial Patua syndrome may have a higher chance of survival and fewer abnormalities with Full Trisomy 13.
Diagnosing Patau’s Syndrome
The doctor may check for abnormalities in the baby while in the womb using the following methods:
- amniocentesis (Amniocentesis) during weeks 10 – 14 of pregnancy. To collect fluid in the amniotic sac to check for abnormalities.
- Placenta biopsy (Chorionic Villus Sampling: CVS) involves collecting a sample of the fetal placenta to look for chromosomal abnormalities. It is often used to detect pregnancy in which the baby is thought to be at risk of genetic disease.
- Displaying images of the inside of the baby’s body through various methods such as ultrasound using high frequency sound waves (Ultrasound), computerized tomography (CTs), electromagnetic waves and radio frequency waves (MRIs), etc. These techniques can monitor development. of imperfect internal organs like the heart switches sides Atrial septal defect, ventricular septal defect, Ventricular Septal Defect, Patent Ductus Arteriosus, brain not divided into hemispheres. or the abdominal wall is not developed (Abdominal Wall Defect)
Treating Patau’s Syndrome
The doctor will treat according to the symptoms and abnormalities found. Because Patua syndrome does not have a direct cure. In the event that the baby survives Doctors may recommend that parents and families learn how to care for infants with this syndrome.
Complications from Patau’s Syndrome
Organ impairment can result in complications such as difficulty breathing, problems with chewing and swallowing food, deafness, blindness, developmental delays , seizures, heart failure, and death, among others.
Preventing Patau’s Syndrome
Currently, there is no way to prevent this syndrome. But in couples who have had children with Patua syndrome You should consult your doctor and get tested to assess your risks before your next pregnancy.
