Patau's syndrome What we need to know

Patau syndrome is a genetic/chromosomal disorder caused by having an extra copy of chromosome 13 in some or all of the body's cells. It is also called trisomy 13.

Each cell normally contains 23 pairs of chromosomes, but a child with Patau syndrome has 13 copies of chromosome 3 instead of 2. This seriously disrupts normal development and in certain cases leads to spontaneous abortion, stillbirth or death of the child soon after birth.

Among other serious medical problems, babies with Patau syndrome have low birth weight, and 10 out of 8 babies are born with severe heart defects. Patau syndrome affects about 5000 in every 1 newborns. As a woman's age increases, the risk of having a child with Patau syndrome also increases.

Symptoms

Children with Patau syndrome can have a wide range of health problems related to the following characteristics:

• prenatal hypertrophy;
• congenital anomalies of the brain;
• small size of the newborn's head (microcephaly);
• short neck, with folded skin;
• facial anomalies;
• Deformation of ear canals and deafness;
• Corneal distortion and cataracts;
• congenital heart disease;
• nail dystrophy;
• disorders of the musculoskeletal system;
• mental retardation;
• lack of appetite and refusal to breastfeed;
• Raised, red spots (capillary hemangioma)

other symptoms

• Embryonic hernia as a defect of fetal development;
• pathological cysts in the kidneys;
• Gastrointestinal and urinary system malformations;
• small genital organ in boys;
• Enlarged clitoris in girls.

Causes of Patau syndrome

Patau syndrome develops spontaneously and may not be related to the health of the parents. Most cases of the syndrome are not hereditary. They occur accidentally during conception (when an egg is fertilized by a sperm).

Diagnosis

There are two main types of tests available to prevent fetal syndromes during pregnancy (prenatal period): screening tests and diagnostic tests. Screening and diagnostic tests determine whether a fetus has a low or high chance of developing various syndromes.

If screening tests show that you have a high risk of having a baby with Patau syndrome, it is recommended that you also have a diagnostic test to determine if the fetus has the genetic disorder.

• 1. Screening Tests – A prenatal screening test can determine if your baby is more or less likely to have birth defects, many of which are genetic disorders. These tests include blood tests, specific ultrasounds, and prenatal cell-free DNA screening.
• 2. Diagnostic tests – after the screening test, the final answer is given by the diagnostic test, which checks the genetic material of the fetus and therefore can also find out whether the fetus has a genetic disorder. Invasive and non-invasive prenatal diagnostic tests ((NIPT) Verasiti, Veragen) is the only, safe and effective way to confirm the diagnostics.
• Be aware that some diagnostic tests, such as chorionic villus sampling and amniocentesis, carry a small risk of miscarriage.

 Learn more about prenatal diagnostics → (https://synevo.ge/prenatal-screening/)

solution

There is no specific treatment for Patau syndrome. Because of the serious health problems of a newborn with the syndrome, doctors usually focus on minimizing discomfort and feeding the baby.

Additional treatments are also available, including specialized dietary nutrition, seizure prevention, prophylactic antibiotics for urinary tract infections, and the use of hearing aids.

Sources:

• https://www.ncbi.nlm.nih.gov/books/NBK538347/#article-26721.s8
• https://www.nhs.uk/conditions/pataus-syndrome/

"Synevo" laboratory offers the following tests for prenatal screening of Patau syndrome:

Alexander Tsintsabadze