Trisomy 13

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LC20.2 Complete trisomy 13

ICD-11 classification

(ICD-10) - Q91 Edwards' syndrome and Patau's syndrome


Introduction

Trisomy 13
Chromosome 13

International Classification of Diseases Trisomy 13 (Patau syndrome) is a rare (1 in 10,000 newborns) developmental genetic abnormality (aneuploidy) with three copies of chromosome 13, instead of the usual two copies, there can also be a chromosomal translocation. Infant may have a single placental artery at birth.

Both trisomy 13 and trisomy 18 are generally considered fatal anomalies, with a majority of infants dying in the first year after birth.[1]

Patau syndrome is named after Klaus Pätau (1908–1975) an American geneticist who in 1960[2] was the first to attribute the syndrome of trisomy to chromosome 13.


Genetic Links: genetic abnormalities | maternal age | Trisomy 21 | Trisomy 18 | Trisomy 13 | Trisomy X | Monosomy | Fragile X | Williams | Alagille | Philadelphia chromosome | mitochondria | hydatidiform mole | epigenetics | Prenatal Diagnosis | Neonatal Diagnosis | meiosis | mitosis | International Classification of Diseases | genetics

Some Recent Findings

  • Enhanced First Trimester Aneuploidy Screening with Placental Growth Factor and Alpha Feto-Protein: Detection of Trisomies 18 and 13[3] "To assess the performance of first trimester combined screening (FTS) when enhanced with placental growth factor and alpha feto-protein in the detection of trisomies 18 and 13. METHODS: A retrospective case-control study. Marker parameters were derived using frozen serum samples. Multivariate Gaussian modelling predicted the detection rate (DR) and false-positive rate (FPR) for trisomies 18 and 13 with FTS and enhanced first trimester screening (eFTS) using the risk of trisomy 21 alone and an additional risk cut-off for trisomy 18, or trisomies 18 or 13. RESULTS: There were 83 trisomy 18, 22 trisomy 13, and 588 controls. The median placental growth factor levels in trisomies 18 and 13 were 0.75 and 0.65 multiple of the median of controls, respectively (both P <0.0001). There were no statistically significant differences in alpha feto-protein levels. Modelling predicts that using a trisomy 21 risk cut-off alone, at FPR of 3%, eFTS increases the DR for trisomies 18 and 13 by 0.6-0.8% compared with FTS. Additionally using a trisomy 18 risk cut-off, at an extra FPR of 0.2%, eFTS increased the DR by 0.6-0.9% over FTS; using a trisomy 18 or 13 risk cut-off did not further increase detection for FTS or eFTS. The increase in DR was greater at higher FPR. CONCLUSION: eFTS increases the detection of trisomies 18 and 13 to a small extent."
  • Management options and parental voice in the treatment of trisomy 13 and 18[4] "Trisomy 13 and 18 are rare genetic conditions associated with high rates of congenital anomalies, universal profound neurocognitive deficits, and early death, commonly in the first month after birth. Historically, efforts were made to keep these newborns comfortable, but parents were generally not offered medical or surgical interventions. This practice has begun to change in some hospitals, but remains controversial, and a clear consensus between and even within institutions does not appear to exist. This essay presents a summary of current data and an ethical analysis of the question of whether medical and surgical interventions should be offered to parents of newborns with trisomy 13 or 18. While compelling arguments can be found on both sides, it is here suggested that informed parents should be given a stronger voice in these decisions than has traditionally been the case. In an effort to improve clarity and consistency within single institutions, a process for developing an institutional guideline for management of patients with these, or similar, conditions is presented."
More recent papers  
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This table shows an automated computer PubMed search using the listed sub-heading term.

  • Therefore the list of references do not reflect any editorial selection of material based on content or relevance.
  • References appear in this list based upon the date of the actual page viewing.

References listed on the rest of the content page and the associated discussion page (listed under the publication year sub-headings) do include some editorial selection based upon both relevance and availability.

Links: References | Discussion Page | Pubmed Most Recent | Journal Searches


Search term: Trisomy 13

L Hou, X X Wang, H L Jiang, T Zhang, L Li, W Y Zhang, X Wang [Application of chromosomal analysis for 29 cases of fetuses with nasal bone absence or hypoplasia]. Zhonghua Yi Xue Za Zhi: 2018, 98(43);3532-3535 PubMed 30481905

Samuel Kim, Jay Collins Colon Cancer in an Adult with Trisomy 13. Am Surg: 2018, 84(9);e391-e392 PubMed 30454509

Ishwar Chander Verma, Ratna Puri, Eswarachary Venkataswamy, Tulika Tayal, Sheela Nampoorthiri, Chitra Andrew, Madhulika Kabra, Rashmi Bagga, Mamatha Gowda, Meenu Batra, Sridevi Hegde, Anita Kaul, Neerja Gupta, Pallavi Mishra, Jayshree Ganapathi Subramanian, Shruti Lingaiah, Riyaz Akhtar, Francis Kidangan, R Chandran, C Kiran, G R Ravi Kumar, V L Ramprasad, Priya Kadam Single Nucleotide Polymorphism-Based Noninvasive Prenatal Testing: Experience in India. J Obstet Gynaecol India: 2018, 68(6);462-470 PubMed 30416273

S Galeva, L Konstantinidou, M M Gil, R Akolekar, K H Nicolaides Routine first-trimester screening for fetal trisomies in twin pregnancies: cell-free DNA test contingent on results from the combined test. Ultrasound Obstet Gynecol: 2018; PubMed 30353581

Pascaline Létard, Fabien Guimiot, Céline Dupont, Jonathan Rosenblatt, Anne-Lise Delezoide, Suonavy Khung-Savatovsky Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses. Am. J. Med. Genet. A: 2018; PubMed 30328679

Older papers  
  • Cytological and epidemiological findings in trisomies 13, 18, and 21: England and Wales 2004-2009[5] "This study describes the cytological and epidemiological findings in 985 trisomy 13 and 2512 trisomy 18 compared with 10,255 trisomy 21 diagnoses between 2004 and 2009 included in the National Down Syndrome Cytogenetic Register of England and Wales. The frequency of occurrence, proportions diagnosed prenatally, sex ratios, mean maternal age, and proportions of mothers with recurrences were analyzed. Ninety-seven, 98%, and 92% were free karyotypes for trisomy 21, 18, and 13, respectively; 3% of 21, 1% of 18, and 8% of trisomy 13 were translocations; and under 1% of trisomies 21 and 18 were double or triple aneuploids. Overall 1% of each trisomy had mosaicism, but 48% of the trisomy 21 double aneuploids, and 10% of trisomy 18 multiple aneuploids had mosaicism. The proportion of livebirths was 40% of trisomy 21, 11% of 18, and 13% of 13, respectively. Free trisomies 21 and 13 had an excess of males, and 18 had an excess of females, as did mosaic free trisomies 21 and 18. Mean maternal ages were 35.9 years in trisomy 21, 36.4 years in 18, and 34.6 years in 13. During the 6 years of data collection 1% of the mothers had recurrences, most recurrent trisomy 21 or 18 were identical translocations, but hetero-trisomic recurrences included 21 and 18, and 21 and 13. There are significant differences between the trisomic karyotypes and attributes, possibly related to their variable origins. Notable are the relative excess of trisomy 13 translocations, mosaicism in cases with multiple aneuploidy, and the types of homo- and hetero-recurrences."
  • Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies[6]

Aneuploidy

  • Euploidy normal, means having the complete chromosome sets (n, 2n, 3n). Aneuploidy is one of the three main classes of numerical chromosomal abnormalities:
  • Aneuploidy are chromosome mutations in which chromosome number is abnormal (increased or reduced), nondisjunction in meiosis or mitosis (anaphase of meiosis I, sister chromatids fail to disjoin at either meiosis II or at mitosis) is the cause of most aneuploids.
  • Polyploidy includes triploidy, usually due to two sperm fertilizing a single egg.
  • Mixoploidy includes mosaicism, where there are two or more genetically different cell lines in an individual.

Prevalence

Syndrome abnormalities USA 1998-2008 graph.jpg

Abnormalities from USA Nationwide Inpatient Sample database (1998 to 2008)[7]

Cardiac Abnormalities

  • Atrial septal defect
  • Patent ductus arteriosus
  • Ventricular septal defect

A recent study of Japanese cardiac surgery in patients with trisomy 18 and trisomy 13 in Japan[8]</ref>

  • clinical data from 134 patients with T18 and 27 patients with T13
  • patients with T13, 5 (19%) of 27 patients were alive during study period.
  • Twenty-three (85%) of 27 patients had CHD and 13 (57%) of 27 patients had PH.
  • Atrial septal defect was the most common form of CHD (22%).
  • Cardiac surgery was done in 6 (26%) of 23 patients.


Cyclopedia Abnormality

Digit Abnormality

Trisomy 13 polydactyly.jpg

Trisomy 13 polydactyly[9]

Neural Tube Abnormality

Additional Images

References

  1. Nelson KE, Hexem KR & Feudtner C. (2012). Inpatient hospital care of children with trisomy 13 and trisomy 18 in the United States. Pediatrics , 129, 869-76. PMID: 22492767 DOI.
  2. PATAU K, SMITH DW, THERMAN E, INHORN SL & WAGNER HP. (1960). Multiple congenital anomaly caused by an extra autosome. Lancet , 1, 790-3. PMID: 14430807
  3. Huang T, Meschino WS, Rashid S, Dennis A, Mak-Tam E & Cuckle H. (2018). Enhanced First Trimester Aneuploidy Screening with Placental Growth Factor and Alpha Feto-Protein: Detection of Trisomies 18 and 13. J Obstet Gynaecol Can , , . PMID: 30025867 DOI.
  4. Pyle AK, Fleischman AR, Hardart G & Mercurio MR. (2018). Management options and parental voice in the treatment of trisomy 13 and 18. J Perinatol , , . PMID: 29977011 DOI.
  5. Alberman E, Mutton D & Morris JK. (2012). Cytological and epidemiological findings in trisomies 13, 18, and 21: England and Wales 2004-2009. Am. J. Med. Genet. A , 158A, 1145-50. PMID: 22495937 DOI.
  6. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL & Ledbetter DH. (2010). Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am. J. Hum. Genet. , 86, 749-64. PMID: 20466091 DOI.
  7. Egbe A, Lee S, Ho D, Uppu S & Srivastava S. (2014). Prevalence of congenital anomalies in newborns with congenital heart disease diagnosis. Ann Pediatr Cardiol , 7, 86-91. PMID: 24987252 DOI.
  8. Maeda J, Yamagishi H, Furutani Y, Kamisago M, Waragai T, Oana S, Kajino H, Matsuura H, Mori K, Matsuoka R & Nakanishi T. (2011). The impact of cardiac surgery in patients with trisomy 18 and trisomy 13 in Japan. Am. J. Med. Genet. A , 155A, 2641-6. PMID: 21990245 DOI.
  9. Chan A, Lakshminrusimha S, Heffner R & Gonzalez-Fernandez F. (2007). Histogenesis of retinal dysplasia in trisomy 13. Diagn Pathol , 2, 48. PMID: 18088410 DOI.

Reviews

Chen CP. (2010). Prenatal diagnosis and genetic counseling for mosaic trisomy 13. Taiwan J Obstet Gynecol , 49, 13-22. PMID: 20466287 DOI.

Solomon BD, Rosenbaum KN, Meck JM & Muenke M. (2010). Holoprosencephaly due to numeric chromosome abnormalities. Am J Med Genet C Semin Med Genet , 154C, 146-8. PMID: 20104610 DOI.

Spencer K. (2007). Aneuploidy screening in the first trimester. Am J Med Genet C Semin Med Genet , 145C, 18-32. PMID: 17290444 DOI.

Bugge M, deLozier-Blanchet C, Bak M, Brandt CA, Hertz JM, Nielsen JB, Duprez L & Petersen MB. (2005). Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases. Am. J. Med. Genet. A , 132A, 310-3. PMID: 15690377 DOI.

Oyler M, Long BW & Cox LA. (2004). Sonographic markers used to detect frequent trisomies. Radiol Technol , 76, 13-8. PMID: 15503716

Shipp TD & Benacerraf BR. (2002). Second trimester ultrasound screening for chromosomal abnormalities. Prenat. Diagn. , 22, 296-307. PMID: 11981910 DOI.

Rodríguez JI, García M, Morales C, Morillo A & Delicado A. (1990). Trisomy 13 syndrome and neural tube defects. Am. J. Med. Genet. , 36, 513-6. PMID: 2202219 DOI.

Huang CY, Chiang JH, Yeh GP, Chou PH, Shiau HJ, Lai YS & Li SY. (1987). Cyclopia with trisomy 13. Aust N Z J Obstet Gynaecol , 27, 251-5. PMID: 3325020

Articles

Lakovschek IC, Streubel B & Ulm B. (2011). Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis. Am. J. Med. Genet. A , 155A, 2626-33. PMID: 21990236 DOI.

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Search Pubmed Nov 2010 "Trisomy 13" - All (3649) Review (283) Free Full Text (452)


Search Pubmed: Trisomy 13 | Patau Syndrome

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Cite this page: Hill, M.A. (2018, December 11) Embryology Trisomy 13. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Trisomy_13

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