eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Patau Syndrome: Follow-up

Author: Robert G Best, PhD, FACMG, Professor and Director, Division of Clinical Genetics and Molecular Medicine, University of South Carolina School of Medicine
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
Contributor Information and Disclosures

Updated: Nov 10, 2009

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.

Inpatient & Outpatient Medications

  • Prior to dental procedures, administer prophylactic antibiotics for children with cardiac anomalies.

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. These recommendations are based on an empiric recurrence of about 1%.

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.
  • Inform parents about the Support Organization for Trisomy 18, 13, and Related Disorders (SOFT). This organization, with state and local chapters throughout the country, is a good resource for information and psychosocial support for parents and families dealing with this difficult disorder.
  • Living With Trisomy 13 is another organization with information for families and physicians.

Miscellaneous

Medicolegal Pitfalls

  • Recurrence risks to extended family members are increased when Patau syndrome occurs because of structural chromosome abnormalities. The physician should exercise due diligence to evaluate the patient for structural chromosome rearrangements and to offer additional testing to at-risk family members. Recurrence risks for future pregnancies must be addressed in all cases, whether aneuploidy or structural rearrangements are involved.
 
Acknowledgments

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



More on Patau Syndrome

Overview: Patau Syndrome
Differential Diagnoses & Workup: Patau Syndrome
Treatment & Medication: Patau Syndrome
Follow-up: Patau Syndrome
Multimedia: Patau Syndrome
References

References

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

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

  3. [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].

  4. 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.

  5. Baty BJ, Blackburn BL, Carey JC. Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk. Am J Med Genet. Jan 15 1994;49(2):175-88. [Medline].

  6. 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. Jul-Aug 2008;51(4):303-14. [Medline].

  7. Goldstein H, Nielsen KG. Rates and survival of individuals with trisomy 13 and 18. Data from a 10-year period in Denmark. Clinical Genetics. Dec 1988;34(6):366-72. [Medline].

  8. 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. Jan 1 2006;140(1):92-3. [Medline].

  9. Jones KL. Trisomy 13 syndrome. In: Smith's Recognizable Patterns of Human Malformation. 5th Edition. Saunders/Elsevier; 1997:18-23.

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

  11. 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. Feb 2006;194(2):397-401. [Medline].

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

Further Reading

Keywords

Patau syndrome, trisomy 13 syndrome, D1 trisomy syndrome, trisomy D syndrome, severe mental deficiency, viable autosomal trisomy, holoprosencephaly, hypotelorism, microphthalmia, anophthalmia, Edwards syndrome, treatment, diagnosis

Contributor Information and Disclosures

Author

Robert G Best, PhD, FACMG, Professor and Director, Division of Clinical Genetics and Molecular Medicine, University of South Carolina School of Medicine
Robert G Best, PhD, FACMG is a member of the following medical societies: American Academy of Nanomedicine, American College of Medical Genetics, and 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, 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, Perinatal Research Society, Society for Gynecologic Investigation, Society for Maternal-Fetal Medicine, and Society for the Study of Reproduction
Disclosure: Nothing to disclose.

Medical Editor

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 American Society of Human Genetics
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Robert Anthony Saul, MD, Clinical Professor, Department of Pediatrics, University of South Carolina; Senior Clinical Geneticist, Greenwood Genetic Center
Robert Anthony Saul, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, and American College of Physician Executives
Disclosure: Nothing to disclose.

CME Editor

Daniel Rauch, MD, FAAP, Director, Pediatric Hospitalist Program, Associate Professor, Department of Pediatrics, New York University School of Medicine
Daniel Rauch, MD, FAAP is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, and Society of Hospital Medicine
Disclosure: Baxter Honoraria Consulting

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
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