1. History ♀ ♂ First identified as a cytogenetic syndrome in 1960.
47,XX,+13 ♂
47,XY,+13 13

2. Cause 1. An extra copy of chromosome 13. 2. Mosaic 46,XY/47,XY,+13.
3. Robertsonian translocation with one of
the acrocentric chromosome (13, 14,15,
21, 22).
4. Structural chromosome abnormality i.e.,
duplication of a part of chromosome 13.

3. Mechanism Nondisjunction during maternal meiosis I.
Strong association exists between
Patau syndrome and increased
maternal age.

4. Incidence Significant numbers of +13 end in spontaneous abortion,
Patau syndrome is the least common and the
most severe of the viable autosomal trisomies.
1 case per 8,000-12,000 live births.
No racial or geographic differences.
Median survival is fewer than 3 days.
Significant numbers of +13 end
in spontaneous abortion,
fetal demise, or stillbirth.

5. Mortality and Morbidity
Median survival age is 2.5 days.
Only 1 child in 20 surviving longer than 6
months.
Reports of adults with Patau syndrome are
rare.

6. Clinical feature Highly variable.
Mosaicism for trisomy 13 is associated with a milder degree
of severity.

7. Patau Syndrome (47, +13)

8. Clinical presentation
Hernias.
Cleft lip.
Cleft palate.
Omphalocele.
Microcephaly.
Microphthalmia.
Rocker-bottom feet.
Polydactyly (postaxial).
Scalp defects (cutis aplasia).

9. A 7-year-old child with full trisomy 13.
survival beyond the first year is very rare.
He is deaf and blind.

10. Rocker-bottom appearance feet

11. Cleft lip or cleft palate
Bilateral cleft lip

12. Cyclopia (single eye) with a proboscis
Trisomy 13
Cyclopia (single eye) with a proboscis
(the projecting tissue just above the eye)

13. Polydactyly

14. Causes of death are Cardiopulmonary arrest in 69%.
Congenital heart disease in 13%.
Pneumonia in 4%.

15. Diagnosis Clinical presentation. conventional cytogenetics.
Fluorescent in situ hybridization (FISH).

18. Genetic counseling Increased risk
Pregnant patients aged 35 years or older
Patients whose ultrasonographic findings are consistent with of aneuploidy.
Elect fetal karyotyping
Chorionic villus sampling.
Amniocentesis.
Termination of pregnancy
Option for the patient with a fetus exhibiting
trisomy 13 before 24 weeks’ gestation.

19. Genetic counseling Recurrence risks depend on the
1. Chromosome abnormality.
2. Mother's age.
Free standing trisomy 13
The recurrence risk is 0.5% above the mother's
age related risk.
Recurrence risks for structural rearrangements
(Robertsonian) vary considerably, risks can be as
high as 100% in casesinvolving both copies of
chromosome 13.
Termination of pregnancy is an option for the patient with a fetus exhibiting trisomy 13 before 24 weeks’ gestation.

20. Prevention Prenatal diagnostic for Parent with structural changes.
subsequent pregnancy.
Pregnant women with age risk.
Women who have had a parent is
known to carry structural chromosome abnormalities involving chromosome 13.

21. Cardiovascular system
Cardiac defects occur in 80% of cases
Dextrocardia.
Atrial septal defect.
Patent ductus arteriosus.
Ventricular septal defect.

22. Presentation
Newborns with Patau syndrome typically present in the neonatal period with low Apgar scores, and they may have the following conditions:
Cleft lip
Cleft palate
Polydactyly (postaxial)
Microcephaly
Rocker-bottom feet
Microphthalmia
Scalp defects (cutis aplasia)
Omphalocele
Hernias
Stillbirth and in utero fetal demise are common pregnancy outcomes.

23. Thank you

24. Physical examination Cardiac defects occur in 80% of cases.
Patent ductus arteriosus
Ventricular septal defect
Atrial septal defect
Dextrocardia
Brain does not divide completely intohalvesHypotelorism
Microphthalmia
Anophthalmia
Absent or malformed nose or proboscis
Severe clefting of the lip and/or palate
Polycystic kidneys or other renal malformations

25. FOLLOW-UP Further Outpatient Care:
Provide surviving children with Patau syndrome the same care other children receive, including visual assessments, hearing evaluations by age 6-8 months, and immunizations. Treat health problems according to severity and always in the best interests of the child.
Specific growth charts are available for monitoring growth of children with Patau syndrome.
Continue monitoring for apneic episodes.
Babies with Patau syndrome are notably irritable.
Older children are at risk of developing scoliosis.
In/Out Patient Meds:
Prior to dental procedures, administer prophylactic antibiotics for children with cardiac anomalies.

26. Deterrence/Prevention:
In each subsequent pregnancy, offer a prenatal diagnostic study to women who have had a pregnancy with an autosomal aneuploidy, including trisomy 13, 18, or 21. Such studies are also indicated when either parent is known to carry structural chromosome abnormalities involving chromosome 13.

27. Prognosis:
Prognosis is generally quite poor for the neonate identified with Patau syndrome. Median survival is only 2.5 days, 82% die within 1 month, and 95% die within 6 months.
Patient Education:
Although those who survive Patau syndrome have low educational potential, increased stimulation and interaction are appropriate to maximize developmental potential.

28. Medical/Legal Pitfalls:
Termination of pregnancy is an option for the patient with a fetus exhibiting trisomy 13 before 24 weeks’ gestation.

29. Recurrence risks in patients with
structural chromosome rearrangements.
Recurrence risks for future pregnancies must be addressed in all cases. whether aneuploidy or structural rearrangements are involved.
Special Concerns:
Inform parents about the Support Organization for Trisomy 18, 13, and Related Disorders

30. Patau syndrome is the least
common and the most severe
of the viable autosomal trisomies.

31. Risk Pregnant patients aged 35 years or
older and patients whose ultrasonographic
findings are consistent with increased risk of aneuploidy often elect fetal karyotyping through chorionic villus sampling or amniocentesis. Termination of pregnancy is an option for the patient with a fetus exhibiting trisomy 13 before 24 weeks’ gestation.