(Trisomy 13)

Prevalence: between 1/8,000 and 1/15,000 births. Trisomy of chromosome 13: in 75 % of cases, trisomy is said to be "free."

In the other cases,

-        supernumerary chromosome is attached to another acrocentric chromosome  (13, 14, 15, 21, 22)

-        trisomy is caused by a reciprocal translocation between chromosome 13 and a non-acrocentric chromosome

-        or trisomy 13 presents as a mosaic with a highly variable phenotype.

The most common form of trisomy 13 combines:

-        holoprosencephaly, hypotonia

-        facial dysmorphism: hypotelorism (sometimes cyclopia), areas of aplasia cutis in the occipital region

-        ocular anomalies: microphthalmia or anophthalmia, coloboma

-        deafness,

-        convulsions,

-        cleft lip and/or palate,

-        polydactyly,

-        congenital heart disease in 80 % of cases: VSD, double-outlet right ventricle, cardiomyopathy, dextroposition

-        urogenital malformations: single kidney, hydronephrosis, polycystic kidney

-        spinal abnormalities: spina bifida occulta, tethered spinal cord, dural ectasia, pectus carnatum, scoliosis

Life expectancy is classically estimated to be less than 10 % at 1 year of age, which has often justified therapeutic abstention. Recent data in which children with trisomy 13 are compared with children with the same comorbidities show similar overall postoperative morbidity (but higher neurological morbidity) but higher postoperative mortality (RR: 4,43).

Anesthetic implications:

difficult intubation; increased sensitivity to the depressant effects of the opioids (1st choice: remifentanil ?); be cautious if a neuraxial block is planned

References : 

• Martlew RA, Sharples A.
  Anaesthesia in a child with Patau’s syndrome.
  Anaesthesia 1995 ; 50 : 980-2
• Pollard RC, Beasley JM.
  Anaesthesia for patients with trisomy 13 (Patau's syndrome).
  Paediatr Anaesth 1996; 6:151-3.
• Cohen IT.
  Caudal block complication in a patient with trisomy 13.
  Pediatr Anesth 2006; 16: 213-5. 
• Amin M, Quraishi F, Aziz R, Patel A.
  Anaesthetic considerations in a 15 month old with Patau’s syndrome: a case report and review oft he literature.
  Anaesthesia Cases 2017; 5: 18-22
• Yamamoto M, Miyazaki I, Kishikawa H, Sakamoto A.
  Opioid-free anesthesia for a child with trisomy 13 with obstructive sleep apnea : a case report.
  JA Clinical Reports 2020 ; 6 :45
• Matthews LJ, Mpody C, Nafiu OO,  Tobias JD.
  Morbidity and mortality following noncardiac surgical procedures among children with autosomal trisomy.
  Pediatr Anesth 2022 ; 32 : 681-6. 
• Cook BH , Choi PM, Lucas DJ.
  Surgical outcomes in children with Trisomy 13: An ACS NSQIP –Pediatric review.
  J Pediatr Surg 2023 ; 58 : 384–8

Updated: March 2023