Trisomy 13 Syndrome

A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 13. Clinical manifestations include CONGENITAL HEART DEFECTS (e.g., PATENT DUCTUS ARTERIOSUS), facial malformations (e.g., CLEFT LIP; CLEFT PALATE; COLOBOMA; MICROPHTHALMIA); HYPOTONIA, digit malformations (e.g., POLYDACTYLY or SYNDACTYLY), and SEIZURES and severe INTELLECTUAL DISABILITY associated with NERVOUS SYSTEM MALFORMATIONS.

Also Known As:

Networked: 318 relevant articles (10 outcomes, 21 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Trisomy 18 Syndrome
2.	Down Syndrome (Down's Syndrome)
3.	Aneuploidy (Aneuploid)
4.	Chromosome Aberrations (Chromosome Abnormalities)
5.	Acute Myeloid Leukemia (Acute Myelogenous Leukemia)

Experts

1.	Nicolaides, K H: 9 articles (01/2021 - 08/2000)
2.	Nicolaides, Kypros H: 7 articles (01/2014 - 10/2002)
3.	Chen, Chih-Ping: 5 articles (01/2022 - 03/2010)
4.	Wang, Wayseen: 4 articles (01/2022 - 03/2011)
5.	Gil, M M: 4 articles (01/2021 - 01/2015)
6.	Li, Hong: 3 articles (08/2022 - 07/2018)
7.	Wang, Ting: 3 articles (08/2022 - 07/2018)
8.	Chen, Shin-Wen: 3 articles (01/2022 - 12/2017)
9.	Chern, Schu-Rern: 3 articles (01/2022 - 12/2017)
10.	Akolekar, R: 3 articles (01/2021 - 06/2016)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Trisomy 13 Syndrome:

1.	dichlorobis(azomycin)platinum IIIBA 07/01/2013 - "Clinical trials have demonstrated the efficacy of NIPT for Down and Edwards syndromes, and possibly Patau syndrome, in high-risk women. " 01/01/2019 - "Since 2017, the non-invasive prenatal test (NIPT) has been offered to all pregnant woman in the Netherlands in the context of the TRIDENT-2 study, which has been implemented as a trial within the Dutch national screening programme for Down's, Edwards' and Patau's syndrome. " 08/10/2023 - "NIPT test suggested that the fetus has a high risk for trisomy 13. " 08/10/2023 - "To validate a fetus with high risk for trisomy 13 suggested by non-invasive prenatal testing (NIPT). " 08/10/2023 - "[Accidental discovery of copy number variation on chromosome 1 in a fetus with high risk of trisomy 13 suggested by NIPT]."
2.	Lenalidomide (CC 5013)FDA Link 01/29/2009 - "We report induction of sustained morphologic and cytogenetic complete remission in 2 older AML patients treated with high-dose, single-agent lenalidomide; each patient had trisomy 13 as the sole cytogenetic abnormality. " 01/29/2009 - "Single-agent lenalidomide induces complete remission of acute myeloid leukemia in patients with isolated trisomy 13." 01/29/2009 - "Trisomy 13: prevalence and clinicopathologic correlates of another potentially lenalidomide-sensitive cytogenetic abnormality."
3.	TrypsinogenIBA 08/01/1991 - "False positive results with immunoreactive trypsinogen screening for cystic fibrosis owing to trisomy 13."
4.	Cell-Free Nucleic AcidsIBA 01/01/2023 - "In the setting of a normal first-trimester ultrasound, an amniocentesis may be a better option than chorionic villous sampling for invasive diagnostic testing after a cell-free DNA high risk for trisomy 13, given the high rates of confined placental mosaicism. " 01/01/2021 - "CfDNA specimens positive for trisomy 13, 18, and 21 with diagnostic outcomes were analysed over a 22-month period in one clinical laboratory. " 01/01/2019 - "For trisomy 13, there were only three affected cases and two (66.7%) of these were detected by the cfDNA test at a FPR of 0.19% (5/2569). " 01/01/2016 - "False Negative Cell-Free DNA Screening Result in a Newborn with Trisomy 13." 01/01/2013 - "Chromosome-selective sequencing of cfDNA can detect the majority of cases of trisomy 13 at an FPR of less than 0.1%."
5.	DNA (Deoxyribonucleic Acid)IBA 11/01/2022 - "Postmortem cytogenetic analysis of the fetal tissue revealed no growth of the cells due to culture failure, but QF-PCR analysis on the DNA extracted from placenta, umbilical cord and parental bloods confirmed trisomy 13 and maternal origin of the extra chromosome 13. " 04/01/2022 - "Methodology This study included 31 women with singleton pregnancies conceived via IVF who underwent cell-free fetal DNA (cffDNA) screening for trisomy 13, 18, and 21; sex determination; and FF. " 01/01/2019 - "After the ultrasound and genetic counseling, she opted to have cell-free fetal DNA screening that was positive for Trisomy 13. " 05/01/2014 - "The cell-free fetal DNA testing result was positive for trisomy 13. " 05/01/2014 - "We investigated the disagreement between the positive cell-free fetal DNA test for trisomy 13 and the standard cytogenetic diagnosis of one case. "
6.	Pregnancy-Associated Plasma Protein-A (PAPP-A)IBA 01/01/2010 - "Logistic regression analysis demonstrated that the addition of serum PP13 did not improve the prediction of trisomy 13 and 18 provided by a combination of maternal age, nuchal translucency, and serum free beta-hCG and PAPP-A. " 05/01/2005 - "Although PAPP-A levels are reduced in trisomy 13 pregnancies in the second trimester, this isolated lower marker value is unlikely to be of value in screening for trisomy 13 in the second trimester. " 05/01/2005 - "Using the Kryptor immunoassay system, we measured free beta-hCG and PAPP-A in 32 singleton pregnancies affected by trisomy 13 between 14 and 20 weeks of gestation. " 05/01/2005 - "To examine the levels of free beta-human chorionic gonadotrophin (free beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A) in second-trimester maternal serum from pregnancies affected by trisomy 13 and compare these with the known reduced levels of these markers in first-trimester cases in an attempt to better understand the pathophysiology of changes in marker levels in chromosomally abnormal pregnancies between the first and second trimester. " 05/01/2005 - "Second-trimester levels of pregnancy-associated plasma protein-A and free beta-hCG in pregnancies with trisomy 13."
7.	Dihydrotachysterol (AT 10)IBA 09/17/1999 - "Increased nuchal translucency in trisomy 13 fetuses at 10-14 weeks of gestation." 09/17/1999 - "This study has demonstrated that at 10-14 weeks of gestation, about 80% of fetuses with trisomy 13 can be identified in a screening program for trisomy 21, based on a combination of maternal age and fetal NT." 01/01/1995 - "At 10 to 13 weeks' gestation fetuses with trisomy 18 are growth retarded, whereas in trisomy 21, trisomy 13, and sex chromosome aneuploidy growth is normal." 02/01/1995 - "Maternal serum total hCG and free beta-hCG were measured in samples from 83 singleton pregnancies with fetal chromosomal abnormalities (trisomy 21 (n = 41), trisomy 18 (n = 19), trisomy 13 (n = 8) sex chromosome aneuploidies (n = 11), triploidy (n = 4) and 394 chromosomally normal controls at 10 to 13 weeks gestation. " 08/30/1995 - "Maternal serum SP1 concentration was measured at 10-13 weeks' gestation in samples from 87 pregnancies with fetal chromosomal abnormalities (trisomy 21 n = 45; trisomy 18 n = 19; trisomy 13 n = 8; Turner syndrome n = 7; 47,XXX or 47,XXY n = 4; triploidy n = 4), and in samples from 348 matched controls. "
8.	N-(4-isothiocyanatophenethyl)spiperoneIBA 01/01/2022 - "Non-invasive prenatal screening (NIPS) was performed in the first trimester which reported an increased risk for trisomy 13. " 04/01/2021 - "The NIPS identified 1 case of Trisomy 13 (4.2%). " 01/01/2020 - "We analyzed retrospectively results from 58 105 singleton pregnancies that underwent NIPS on a customized WGS platform during an 8-month period and assessed clinical test performance for trisomy 21, trisomy 18 and trisomy 13. " 01/01/2021 - "Results: NIPS suggested that among a total of 10,023 cases, 37 (0.37%) were at high risk of aneuploidy, including 4 T21, 6 trisomy 13 (T13), and 27 sex chromosome abnormalities (SCA). " 01/01/2017 - "The sensitivity, specificity, positive and negative predictive value of NIPS were 100.00%, 99.96%, 91.67%, 100.00% for trisomy 21, 100.00%, 99.93%, 68.18%, 100.00% for trisomy 18, and 100.00%, 99.97%, 25.00%, 100.00% for trisomy 13. "
9.	alpha-Fetoproteins (alpha-Fetoprotein)IBA 03/01/1998 - "The level of maternal alpha-fetoprotein, 2.67 MoM, was opposite with the common phenomenon in complete trisomy 13." 08/01/1987 - "From 10 observations of trisomy 13, 3 presented an elevated amniotic fluid alpha-fetoprotein level considered as unusual in 2 cases, superior to cut-off level in the other case. " 08/01/1987 - "[Unusual increase in amniotic fluid alpha fetoprotein and trisomy 13]." 11/01/1985 - "In the trisomy 21 cases there was a significant difference for alpha-fetoprotein levels between cases and controls (p less than 0.001), whereas there was no difference for the combined trisomy 13 and 18 cases compared to controls (p greater than 0.40). " 11/01/1985 - "We compared the amniotic fluid alpha-fetoprotein levels from 25 cases of autosomal trisomy (18 of trisomy 21, four of trisomy 13, three of trisomy 18) diagnosed by midtrimester fetal cytogenetic studies with those from matched, cytogenetically normal pregnancies. "
10.	ChromatinIBA 11/07/2023 - "Here, we applied the high-throughput chromosome conformation capture technique (Hi-C) to study chromatin 3D structure in human chorion cells carrying either additional chromosome 13 (Patau syndrome) or chromosome 16 and in cultured fibroblasts with extra chromosome 18 (Edwards syndrome). "

Therapies and Procedures

1.	Drug Therapy (Chemotherapy) 01/01/2022 - "Here we describe a case of a 40-year-old female with a 24-year history of CD diagnosed with AML harbouring the inv(16)(p13.1q22)/CBFB-MYH11 rearrangement in conjunction with sideline clones containing trisomy 13, tetrasomy 13, and a JT of chromosome 13q12 jumping to 7q32 and 18p11.2. The patient attained molecular remission one month post diagnosis after induction 7 + 3 chemotherapy. " 08/01/2017 - "Recent reports of successful outcomes following surgical treatment and adapted chemotherapy indicate that treatment of cancer is possible in Patau syndrome." 11/01/1991 - "A case of trisomy 13 is presented: a 73-year-old man with acute nonlymphocytic leukemia (ANLL), FAB borderline M1/M2, and peripheral leukocyte and platelet counts that were difficult to control with chemotherapy. " 01/01/1983 - "Previous deliveries of infants with malformation-syndrome or chromosomal trisomies like Edwards-or Patau-syndrome and radiation or chemotherapy of one of the parents were summarized under other indications (7.3 per cent). " 10/01/2022 - "Schulz, MD, Edmonton, AB Marie-Andrée Harvey, MD, Kingston, ON Cancer Chemotherapy and Pregnancy [J Obstet Gynaecol Can 35 (2013) 263-278] AUTHORS Gideon Koren, MD, Toronto, ON Nathalie Carey, BSc, Toronto, ON Robert Gagnon, MD, Montréal, QC Cynthia Maxwell, MD, Toronto, ON Irena Nulman, MD, Toronto, ON Vyta Senikas, MD, Ottawa, ON Current Status in Non-Invasive Prenatal Detection of Down Syndrome, Trisomy 18, and Trisomy 13 Using Cell-Free DNA in Maternal Plasma [J Obstet Gynaecol Can 35 (2013) 177-181] AUTHORS Sylvie Langlois, MD, Vancouver, BC Jo-Ann Brock, MD, Halifax, NS Mifepristone [J Obstet Gynaecol Can 25 (2003) 235] The Presence of a Third Party During Breast and Pelvic Examinations [J Obstet Gynaecol Can 25 (2003) 237] Midwifery [J Obstet Gynaecol Can 25 (2003) 239] Emergency Contraception [J Obstet Gynaecol Can 25 (2003) 673-678] Tension-Free Vaginal Tape (TVT) Procedure [J Obstet Gynaecol Can 25 (2003) 692-694] Uterine Fibroid Embolization (UFE) [J Obstet Gynaecol Can 26 (2004) 899-911] AUTHORS Guylaine G. "
2.	Extracorporeal Membrane Oxygenation 09/01/2017 - "Excluding trisomy 13 or 18, all groups of genetic conditions received and benefited from extracorporeal membrane oxygenation, although extracorporeal membrane oxygenation mortality was greater for those with 22q11 deletion and other genetic conditions." 09/01/2017 - "In trisomy 13 or 18 patients, extracorporeal membrane oxygenation use was similar to those without genetic condition, but all five treated with extracorporeal membrane oxygenation died. " 01/01/2021 - "Indications for extracorporeal life support (ECLS) have evolved and expanded, yet its use in trisomy 13 (T13) and trisomy 18 (T18) patients remains controversial. " 01/01/2021 - "Outcomes After Extracorporeal Life Support Cannulation in Pediatric Patients With Trisomy 13 and Trisomy 18."
3.	Induction Chemotherapy 10/15/1990 - "All eight patients with trisomy 13 were treated with intensive induction chemotherapy; only three entered a short-lived complete remission. "
4.	Operative Surgical Procedures 01/01/2018 - "Safety and efficacy of noncardiac surgical procedures in the management of patients with trisomy 13: A single institution-based detailed clinical observation."
5.	Tracheostomy 11/01/2023 - "This study highlights a significantly higher long-term survival of patients with trisomy 13 syndrome who underwent tracheostomies during their NICU stays." 11/01/2023 - "In this retrospective cohort study, we investigated the impact of tracheostomies on the long-term survival of children with trisomy 13 syndrome at a Japanese tertiary pediatric center. " 11/01/2023 - "Impact of tracheostomies on the long-term survival of patients with trisomy 13 syndrome."