What is trisomy 13?
Trisomy 13, also known as Patau syndrome, is a genetic condition where a baby has an extra copy of chromosome 13. Therefore, they have three copies, terming the condition Trisomy 13. This extra genetic material can cause severe developmental and medical problems.
It is caused by an extra copy of chromosome 13 in the baby’s cells. This usually happens by chance during the formation of eggs or sperm. It is not caused by anything the parents did and usually is not inherited.
It may be suspected on an ultrasound scan showing structural differences, such as brain, heart, or facial abnormalities. Diagnosis is confirmed with genetic testing from a blood test (NIPT), amniocentesis, or chorionic villus sampling (CVS).
Trisomy 13 is a serious condition. Many pregnancies end in miscarriage or stillbirth. If a baby is born alive, they often have serious health problems and may not survive long after birth. For those who survive longer, there will be severe learning and physical disabilities often needing 24-hour care.
If trisomy 13 is confirmed, your healthcare team will discuss options, including continuing or ending the pregnancy. If continuing, care planning will focus on comfort and support for you and your baby.
Trisomy 13 usually occurs by chance, and the chance of it happening again is low. If the condition is due to a chromosome rearrangement, genetic counselling will be offered.