Management of Patau Syndrome

Management
of

Patau Syndrome

What can be done? Screening and
diagnosis

Treatment

Counselling and
family support

Screening &
Diagnosis

For screening

(2)Ultrasound

Diagnosis

(A) Clinical evaluation: detection of characteristic physical findings,

(B) Chromosomal analysis
(1) Conventional cytogenetics: Karyotyping

(2) Molecular cytogenetics: FiSH

(3) Samples-
: chorionic villus
: amniotic fluid analysis

What Are The Treatment Options For Babies With Trisomy 13?

• There is no known prenatal treatment that will improve the outcome for a baby
with Trisomy 13.

• Even though there is no cure for Trisomy 13, there are medical treatments that may
be provided after birth that may improve the quality and duration of life for these
babies.

• The treatment of Trisomy 13 Syndrome is directed toward the specific symptoms
that are apparent in each individual.

• Such treatment may require the coordinated efforts of a multidisciplinary team of
medical professionals.

Symptomatic Treatment

The most important is to minimize discomfort and ensuring the baby is able to
feed.

hSuigrghermieosratraeligteynrearatelly. withheld for the first few months of life because of the

Parents and medical personnel must carefully weigh decisions about
extraordinary life-prolonging measures against the severity of the neurological
and physical defects that are present and the likelihood of post-surgical recovery
or prolonged survival.

Many infants have difficulty surviving the first few days or weeks due to severe
neurological problems or complex heart defects.

Surgery may be necessary to repair heart defects or cleft lip and cleft palate.

Counselling and support

• Genetic counseling will also be of benefit for families of children with Trisomy
13 Syndrome.

• aBfofethctpeadrebnytPsawtailul 'nseseydndtorohmaevecathueseirdchbryoamcohsroommeos saonmalyazledtraifnthseloircbaatiboynis.

• A balanced translocation may be found in one oafhtihgehpearrerinstks. oThf irsehcausrrence.
significance for future pregnancies because of
Other family members may also be affected.

• Genetic testing is carried out to help parents plan for future pregnancies,
rather than as part of the decision-making process for the current pregnancy.

• The test results will allow a amffoercetiancgcfuuratutereaspseressgmneanntctioebs.e made of the
likelihood of the syndrome

Prognosis(1)

1. Life expectancy is very limited Median survival is 2.5 days.
2. About 50% live longer than one week.
3. 5-10% of infants live longer than one year.
4. Profound learning disability and developmental delay occur in survivors. Seizures and feeding

difficulties are common.
5. However, trisomy 13 mosaicism causes a variable phenotype ranging from complete trisomy 13

with neonatal death, to just a few dysmorphic features and prolonged survival(2).

(1) Tsukada, K., Imataka, G., Suzumura, H., & Arisaka, O. (2012). Better prognosis in newborns with trisomy 13 who received intensive treatments: a retrospective study of 16 patients.
Cell Biochemistry and Biophysics, 63(3), 191-198.

(2) Chen, C. P. (2010). Prenatal diagnosis and genetic counseling for mosaic trisomy 13. Taiwanese Journal of Obstetrics and Gynecology, 49(1), 13-22.