PATAU’S SYNDROME

TYPES

Trisomy 13 is classified into three types:

• Full Trisomy 13. Each cell contains a third duplicate of chromosome 13. It is the most common Trisomy 13, accounting for around 95% of all occurrences.

• Mosaic Trisomy 13. The presence in specific cells of three copies of chromosome 13. This kind of Trisomy 13 accounts for around 5% of all instances.
• Partial Trisomy 13. Third chromosome 13 is present in the cells, although only partially. Approximately 1% of Trisomy 13 instances are of this kind.

Getting pregnant with Trisomy 13 is generally a surprise to the parents. Nonetheless, there are some potential dangers. For instance, older moms are more likely to give birth to a child with Trisomy 13.

SYMPTOMS

Facial characteristics can be affected as a result of this and result in abnormalities, such as:

• a lip and cleft palate 
• an eye or eyes that are excessively tiny (microphthalmia)
• an eye or either both eyes are missing (anophthalmia)
• decreased eye-to-eye distance (hypotelorism)
• developing issues in the nasal passage

Other facial and head anomalies include:

• tiny in comparison to a typical head (microcephaly)
• scalp skin is absent (cutis aplasia)
• abnormalities of the ear canals and hearing loss
• birthmarks that are red and elevated (capillary haemangiomas)

DIAGNOSIS

Within your first fetal ultrasounds, your physician may see physical indicators of trisomy 13. Pregnancy-associated plasma protein-A (PAPP-A) or noninvasive prenatal testing (NIPT) may detect it.

These screening tests alone will not show you whether your child has trisomy 13. Your doctor will be aware that your child is more likely to have trisomy 13 and that extra testing is required.

TREATMENT

There is no known treatment for Patau’s syndrome. Doctors often concentrate on keeping the newborn comfortable and feeding to help relieve the serious health difficulties associated with being born to a Down syndrome mother.

Only a small percentage of Patau’s syndrome newborns survive the first few days of life without medical support. If your infant is diagnosed with Patau’s syndrome, you will be given counseling and assistance.