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Patau Syndrome

  • Author: Robert G Best, PhD, FACMG; Chief Editor: Luis O Rohena, MD  more...
 
Updated: Dec 24, 2015
 

Background

Patau syndrome is the least common and most severe of the viable autosomal trisomies. Median survival is fewer than 3 days. First identified as a cytogenetic syndrome in 1960, Patau syndrome is caused by an extra copy of chromosome 13, a medium-length acrocentric chromosome.

Many of the clinical features widely vary; however, severe mental deficiency is a consistent feature in children born with Patau syndrome. Holoprosencephaly, polydactyly, flexion of the fingers, rocker-bottom feet, facial clefting, neural tube defects, and heart defects are also frequent clinical features. Patau syndrome is generally recognized at birth by the presence of structural birth defects and poor neurologic performance.

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Pathophysiology

Patau syndrome is caused by the presence of an extra copy of chromosome 13, generally present at conception and transmitted to every cell in the body. Although the exact mechanisms by which chromosomal trisomies disrupt development are unknown, considerable attention has been paid to trisomy 21 as a model system for the autosomal trisomies.[1]

Normal development requires 2 (and only 2) copies of most of the human autosomal genome; the presence of a third copy of an autosome is generally lethal to the developing embryo. Therefore, trisomy 13 is distinctive in that it is one of only 3 autosomal trisomies for which development can proceed to live birth. In fact, trisomy 13 is the largest autosomal imbalance that can be sustained by the embryo and yet allow survival to term. Complex physiologic structures, such as those found in the CNS and heart, appear to be particularly sensitive to chromosomal imbalance, either through the actions of individual genes or by the destabilization of developmental processes involving many genes in concert.

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Epidemiology

Frequency

United States

Incidence of Patau syndrome is approximately 1 case per 8,000-12,000 live births. Significant racial or geographic differences in frequency are not evident, although a well-known association is recognized between Patau syndrome and increased maternal age, an association common to all autosomal trisomies in fetuses that survive to term.

International

A study by Springett et al of 25 population-based registries in 16 European countries found the incidence of trisomy 13 to be 1.9 per 10,000 total births.[2]

Mortality/Morbidity

Median survival age for children with Patau syndrome is 2.5 days, with only one in 20 children surviving longer than 6 months. However, some children survive into their teens and seem to fare better than might be expected based on reports from those who die in the perinatal period. A multi-state, population-based study by Meyer et al reported the 5-year survival rate for trisomy 13 to be 9.7%, with the lowest mortality rates found among females and the offspring of non-Hispanic black mothers.[3] Reports of adults with Patau syndrome are rare.

Holoprosencephaly, a frequent brain malformation associated with Patau syndrome, is associated with severe neurological impairment; development of the structural features of the midface is disrupted when holoprosencephaly is present. Serious cardiac anomalies are often present.

In the aforementioned study by Springett and colleagues, of 240 live-born infants with trisomy 13, the prevalence of anomalies was as follows[2] :

  • Cardiac anomalies: 57%
  • Nervous system anomalies: 39%
  • Eye anomalies: 30%
  • Polydactyly: 44%
  • Orofacial cleft: 45%

The most common causes of death in Patau syndrome are cardiopulmonary arrest (69%),[4] congenital heart disease (13%), and pneumonia (4%). Survivors with Patau syndrome exhibit severe mental retardation and developmental delays and are at increased risk for malignancy. Infants who survive the neonatal period have an average length of stay in a neonatal ICU of 10.8 days.

Sex

The sex ratio at birth is slightly skewed toward females, presumably because of decreased survival among males, with continued skewing of the ratio further toward females as these children age.

Age

Patau syndrome is expressed prenatally and is fully evident at birth. A significant number of cases that are trisomic for chromosome 13 end in spontaneous abortion, fetal demise, or stillbirth.[5] The mortality rate is very high among neonates. Children who survive the neonatal period continue to express developmental delays and exhibit a declining developmental quotient over time. This decline does not result from loss of developmental milestones but instead reflects a worsening developmental lag compared with other children. A report on a group of 21 individuals with Patau syndrome (3 mosaic and 18 nonmosaic) who survived past age 5 years showed the oldest to be aged 21 years.

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Contributor Information and Disclosures
Author

Robert G Best, PhD, FACMG Professor of Biomedical Sciences and Associate Dean for Faculty Affairs, University of South Carolina School of Medicine, Greenville

Robert G Best, PhD, FACMG is a member of the following medical societies: American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Coauthor(s)

Anthony Romaine Gregg, MD Associate Professor, Director, Division of Maternal and Fetal Medicine, Medical Director, Division of Genetics, Medical Director, Genetics Counseling Program, Department of Obstetrics and Gynecology, University of South Carolina School of Medicine

Anthony Romaine Gregg, MD is a member of the following medical societies: American Association for the Advancement of Science, American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, American Institute of Ultrasound in Medicine, American Medical Association, American Society of Human Genetics, Central Association of Obstetricians and Gynecologists, Society for Reproductive Investigation, Society for Maternal-Fetal Medicine, Society for the Study of Reproduction, Perinatal Research Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Eric T Rush, MD, FAAP, FACMG Clinical Geneticist, Munroe-Meyer Institute for Genetics and Rehabilitation; Assistant Professor of Pediatrics and Internal Medicine, University of Nebraska Medical Center

Eric T Rush, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American College of Physicians, Nebraska Medical Association

Disclosure: Serve(d) as a speaker or a member of a speakers bureau for: Alexion Pharmaceuticals<br/>Honoraria for: Alexion Pharmaceuticals and Biomarin Pharmaceuticals.

Chief Editor

Luis O Rohena, MD Chief, Medical Genetics, San Antonio Military Medical Center; Assistant Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Assistant Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Additional Contributors

Elaine H Zackai, MD Professor of Pediatrics, Professor of Obstetrics and Gynecology, Professor of Pediatrics in Human Genetics, University of Pennsylvania School of Medicine; Director, Clinical Genetics Center, University of Pennsylvania; Senior Physician and Director of Clinical Genetics, The Children's Hospital of Philadelphia

Elaine H Zackai, MD is a member of the following medical societies: American Cleft Palate-Craniofacial Association, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Acknowledgements

Special thanks to Dr. James Stallworth for his contributions to the early manuscript.

References
  1. Plaiasu V, Ochiana D, Motei G, Anca I, Georgescu A. Clinical relevance of cytogenetics to pediatric practice. Postnatal findings of Patau syndrome - Review of 5 cases. Maedica (Buchar). 2010 Jul. 5(3):178-85. [Medline]. [Full Text].

  2. Springett A, Wellesley D, Greenlees R, et al. Congenital anomalies associated with trisomy 18 or trisomy 13: A registry-based study in 16 European countries, 2000-2011. Am J Med Genet A. 2015 Sep 8. [Medline].

  3. Meyer RE, Liu G, Gilboa SM, et al. Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study. Am J Med Genet A. 2015 Dec 10. [Medline].

  4. Baty BJ, Jorde LB, Blackburn BL, Carey JC. Natural history of trisomy 18 and trisomy 13: II. Psychomotor development. Am J Med Genet. 1994 Jan 15. 49(2):189-94. [Medline].

  5. Morris JK, Savva GM. The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18. Am J Med Genet A. 2008 Apr 1. 146(7):827-32. [Medline].

  6. Bianchi DW, Parker RL, Wentworth J, Madankumar R, Saffer C, Das AF. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014 Feb 27. 370(9):799-808. [Medline].

  7. [Guideline] American College of Obstetricians and Gynecologists (ACOG). Screening for fetal chromosomal abnormalities. Washington (DC): American College of Obstetricians and Gynecologists (ACOG); 2007 Jan. 11 p. (ACOG practice bulletin; no. 77). [Full Text].

  8. Jaru-Ampornpan P, Kuchtey J, Dev VG, Kuchtey R. Primary congenital glaucoma associated with patau syndrome with long survival. J Pediatr Ophthalmol Strabismus. 2010 Jun 23. 47 Online:e1-4. [Medline].

  9. Shah R, Tran HC, Randolph L, Mascarenhas L, Venkatramani R. Hepatoblastoma in a 15-month-old female with trisomy 13. Am J Med Genet A. 2014 Feb. 164A(2):472-5. [Medline].

  10. Barnes AM. Care of the Infant and Child With Trisomy 18 or 13: Medical Problems, Reported treatments and Milestones. 2nd ed. University of Nebraska Medical Center; 2000.

  11. Fogu G, Maserati E, Cambosu F, Moro MA, Poddie F, Soro G, et al. Patau syndrome with long survival in a case of unusual mosaic trisomy 13. Eur J Med Genet. 2008 Jul-Aug. 51(4):303-14. [Medline].

  12. Iliopoulos D, Sekerli E, Vassiliou G, et al. Patau syndrome with a long survival (146 months): a clinical report and review of literature. Am J Med Genet A. 2006 Jan 1. 140(1):92-3. [Medline].

  13. Morris JK, Savva GM. The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18. Am J Med Genet A. 2008 Apr 1. 146(7):827-32. [Medline].

  14. Papageorghiou AT, Avgidou K, Spencer K, Nix B, Nicolaides KH. Sonographic screening for trisomy 13 at 11 to 13(+6) weeks of gestation. Am J Obstet Gynecol. 2006 Feb. 194(2):397-401. [Medline].

  15. Pont SJ, Robbins JM, Bird TM, et al. Congenital malformations among liveborn infants with trisomies 18 and 13. Am J Med Genet A. 2006 Aug 15. 140(16):1749-56. [Medline].

 
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