Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Patau Syndrome Treatment & Management

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

Medical Care

All patients diagnosed prenatally with a fetus affected by Patau syndrome should be offered a consultation with a care provider skilled in delivering serious information who is knowledgeable about recurrence risk, screening, and diagnostic testing options for future pregnancies.[7] Although a geneticist or genetics counselor is an ideal source and may be best suited for exploring family history, an experienced maternal fetal medicine physician or properly trained obstetrician may provide requisite information especially in regions of the United States, where the amount geneticists and genetic counselors is inadequate. Specific information related to the management of an ongoing pregnancy should be discussed during this consultation.

Once a diagnosis of Patau syndrome is made, pregnancy management varies according to the gestational age at diagnosis.

At previable gestational ages, the option of pregnancy termination should be among those discussed. The gestational age limits for this procedure are state-specific and subject to the training and skill of the physician available to perform the pregnancy termination.

When patients choose not to proceed with pregnancy termination or when the pregnancy has progressed to a viable gestational age such that pregnancy termination is no longer an option (except in rare locations throughout the United States), attention should be focused on whether the labor should be induced or spontaneous. If the labor is to be induced, determine the appropriate gestational age. Due to the physical stresses of pregnancy compounded by the emotional stress of carrying a fetus with a lethal condition, or because of the identification of medical conditions (eg, preeclampsia) that may complicate any pregnancy, labor induction may be considered.

Tocolysis (medical management to reduce uterine contractions) in an effort to prevent preterm birth is not a reasonable option due to the lethal nature of this condition. Cesarean delivery for fetal indications is not recommended due to the lethal nature of this condition.

Focused discussions directed at neonatal resuscitation efforts should be held in advance of labor. These discussions should include a discussion of neonatal procedures for resuscitation, the cost of these measures, and alternatives to aggressive resuscitation. Including a neonatologist in these discussions is often advisable. Clear documentation of these discussions is warranted. When delivery is planned in a hospital setting, labor and delivery nurses, obstetric care providers, and pediatric and neonatal attendants should be informed of the patient’s wishes for her child.

Pregnancy management of a child with a lethal condition can be complicated by a lack of available resources. In addition to having a wealth of experience in dealing with grieving patients, some delivering hospitals are vastly more experienced in the management of pregnancies complicated by known lethal fetal birth defects. For this reason, the authors recommend that, when possible, babies with Patau syndrome should be delivered at such centers.

Next

Surgical Care

Surgical interventions are generally withheld for the first few months of life because of the high mortality rates of babies with Patau syndrome. Carefully weigh decisions about extraordinary life-prolonging measures against the severity of the neurological and physical defects that are present and the likelihood of postsurgical recovery or prolonged survival.

Previous
Next

Consultations

Referral to a geneticist or genetic counselor is important for appropriate counseling regarding recurrence risks, etiology, prognosis, and the availability of local area resources for support.

Recurrence risks differ based on the details of the chromosome abnormality and the mother's age. In general, for freestanding trisomy 13, the recurrence risk for trisomy 13 or another clinically viable trisomy (ie, trisomy 21, trisomy 18) is approximately 0.5% above the mother's age-related risk for autosomal trisomies. Recurrence risks for Robertsonian and other structural rearrangements widely vary; these risks can be as high as 100% in rare cases in which a parental translocation occurs involving both copies of chromosome 13. Consult a genetic counselor or medical geneticist regarding recurrence risks for structural rearrangements that involve chromosome 13.

Previous
Next

Diet

In a group of 12 survivors with Patau syndrome, 4 were documented as requiring gavage feeding as newborns, and 7 were bottle-fed. Two children ate and drank with help prior to age 54 months, and feeding by spoon, finger, and cup was reported.

Previous
 
 
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].

 
Previous
Next
 
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.