eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Patau Syndrome: Differential Diagnoses & Workup

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

Differential Diagnoses

Smith-Lemli-Opitz Syndrome

Other Problems to Be Considered

Edwards syndrome
Partial duplication of 13q

Workup

Laboratory Studies

  • Immediately obtain conventional cytogenetics for any child or neonate with suspected Patau syndrome, unless cytogenetic diagnosis has been made prenatally. Patau syndrome may occur as a freestanding trisomy of chromosome 13 or, more rarely, as a Robertsonian translocation with an extra copy of chromosome 13 attached to another acrocentric chromosome (eg, 13-15, 21, 22) or as a structural chromosome abnormality wherein only a part of chromosome 13 is duplicated. Perform parental blood chromosome studies in the event that a Robertsonian translocation or other structural chromosome abnormality is found because recurrence risks may be markedly different for freestanding trisomy versus structural rearrangements.
  • Antecedents to the prenatal diagnosis of Patau syndrome include abnormal first or second trimester aneuploidy screening and abnormal prenatal ultrasonography findings, including birth defects or growth restriction. One or more of these often precedes cytogenetic analysis using chorionic villous sampling (10-13 weeks' gestation) or amniocentesis (15 weeks' gestation or later) in an effort to obtain a small piece of placental tissue or amniocytes from within amniotic fluid, respectively.
    • In addition to conventional cytogenetics, fluorescent in-situ hybridization (FISH) on interphase cells could be used to obtain a more rapid diagnosis. Cytogenetic analysis is a necessary step in the prenatal diagnosis of Patau syndrome.
    • Caveats concerning the limitations of aneuploidy screening in cases of Patau syndrome are warranted. Second trimester screening, which uses maternal serum alpha fetoprotein (MSAFP), human chorionic gonadotropin (hCG), unconjugated estriol, and inhibin, is often insensitive. A significant number of cases can be detected through the use of first trimester screening (ie, ultrasonography measurement of the nuchal translucency, pregnancy associated plasma protein A [PAPPA], and some form of hCG [usually the free circulating form]).
    • Birth defects identified in fetuses with trisomy 13 include but are not limited to abnormalities of the CNS, cardiac defects, facial defects, growth restriction, holoprosencephaly, and renal abnormalities.
  • Mosaicism for trisomy 13 is associated with a milder degree of severity, with the mildest expression typically in the lowest levels of mosaicism. Higher levels of mosaicism are more closely associated with full constitutional trisomy. Because of the possibility of different levels of mosaicism in different tissues, no level of mosaicism can be presumed benign.

Imaging Studies

  • Initiate appropriate imaging studies when holoprosencephaly or cardiac or renal anomalies are clinically suspected.
  • Because of the high frequency of structural defects, perform cardiac evaluations on patients with Patau syndrome who survive the neonatal period.

More on Patau Syndrome

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

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Further Reading

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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

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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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