Talk:Trisomy 13 - Revision history

Z8600021 at 11:42, 9 December 2019

2019-12-09T11:42:33Z

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	==2018==		==2018==
			{{#pmid:31464342}}

			Evidence for the Oocyte Mosaicism Selection model on the origin of Patau syndrome (trisomy 13).

			Abstract
			INTRODUCTION:
			In 2008, Hultén et al hypothesized that maternal ovarian trisomy 21 mosaicism might be the primary causative factor for fetal Down syndrome. We hypothesize that this theory can be extended to trisomy 13.
			MATERIAL AND METHODS:
			We collected fetal ovarian tissue from seven female fetuses between 16 and 23 gestational weeks, following the termination of the pregnancy for non-genetic reasons. All procedures were performed with informed consent and ethical approval from the local ethics committee. We used touch preparation techniques from fetal ovarian tissues and an anti-stromal antigen 3 antibody against the meiosis-specific stromal antigen 3 protein to differentiate between germ cells, ovarian stromal cells and the cells entering their first meiotic prophase. We used fluorescence in situ hybridization analysis to determine chromosome 13 numbers in each cell.
			RESULTS:
			We were able to detect a proportion of trisomy 13 cells in all cases. The average incidence of trisomy 13 cells was 2.04% in stromal antigen 3-positive and 0.91% in the stromal antigen 3-negative cells. The number of the trisomic cells increased significantly with gestational age (for stromal antigen 3-positive cells r = 0.93, P = 0.0038, for stromal antigen 3-negative cells r = 0.85, P = 0.0071).
			CONCLUSIONS:
			This study indicates that besides trisomy 21, the Oocyte Mosaicism Selection model could be extended to trisomy 13 as well. The crucial factor for trisomy 13 seems to be the pre-meiotic/mitotic trisomy 13 mosaicism, leading to a so-called secondary meiotic nondisjunction of those oocytes having three copies of chromosome 13.
			© 2019 Nordic Federation of Societies of Obstetrics and Gynecology.
			KEYWORDS:
			Oocyte Mosaicism theory; STAG3; aneuploidy; meiosis; oocyte; trisomy
			PMID: 31464342 DOI: 10.1111/aogs.13694

	===Management options and parental voice in the treatment of trisomy 13 and 18===		===Management options and parental voice in the treatment of trisomy 13 and 18===

Z8600021 at 03:00, 19 March 2019

2019-03-19T03:00:41Z

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			==2019==

	==2018==		==2018==

Z8600021 at 01:49, 23 July 2018

2018-07-23T01:49:32Z

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	PMID: 29977011		PMID: 29977011

			===Enhanced First Trimester Aneuploidy Screening with Placental Growth Factor and Alpha Feto-Protein: Detection of Trisomies 18 and 13===

			J Obstet Gynaecol Can. 2018 Jul 16. pii: S1701-2163(18)30005-7. doi: 10.1016/j.jogc.2018.01.007. [Epub ahead of print]


			Huang T1, Meschino WS2, Rashid S3, Dennis A3, Mak-Tam E3, Cuckle H4.
			Author information
			Abstract
			OBJECTIVES:
			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.
			Copyright © 2018 Society of Obstetricians and Gynaecologists of Canada. Published by Elsevier Inc. All rights reserved.
			KEYWORDS:
			First trimester; alpha feto-protein; placental growth factor; screening; trisomy 13; trisomy 18
			PMID: 30025867 DOI: 10.1016/j.jogc.2018.01.007

	==2017==		==2017==

Z8600021 at 01:48, 23 July 2018

2018-07-23T01:48:59Z

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			==2018==

			===Management options and parental voice in the treatment of trisomy 13 and 18===

			J Perinatol. 2018 Jul 6. doi: 10.1038/s41372-018-0151-6. [Epub ahead of print]

			Pyle AK1, Fleischman AR2, Hardart G3, Mercurio MR4.


			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.

			PMID: 29977011

	==2017==		==2017==

Z8600021 at 07:46, 7 Mayıs 2017

2017-05-07T07:46:18Z

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 Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.
 PMID 28456396 DOI: 10.1016/j.athoracsur.2017.02.068
 ==2012==

Z8600021 at 07:44, 7 Mayıs 2017

2017-05-07T07:44:25Z

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			==2017==

			===Long-Term Outcomes of Children With Trisomy 13 and 18 After Congenital Heart Disease Interventions===

			Ann Thorac Surg. 2017 Apr 26. pii: S0003-4975(17)30375-2. doi: 10.1016/j.athoracsur.2017.02.068. [Epub ahead of print]

			Peterson JK1, Kochilas LK2, Catton KG1, Moller JH3, Setty SP4.

			Abstract

			BACKGROUND:
			The purpose of this study is to report short- and long-term outcomes after congenital heart defect (CHD) interventions in patients with trisomy 13 or 18.
			METHODS:
			A retrospective review of the Pediatric Cardiac Care Consortium (PCCC) identified children with trisomy 13 or 18 with interventions for CHD between 1982 and 2008. Long-term survival and cause of death were obtained through linkage with the National Death Index.
			RESULTS:
			A total of 50 patients with trisomy 13 and 121 patients with trisomy 18 were enrolled in PCCC between 1982 and 2008; among them 29 patients with trisomy 13 and 69 patients with trisomy 18 underwent intervention for CHD. In-hospital mortality rates for patients with trisomy 13 or trisomy 18 were 27.6% and 13%, respectively. Causes of in-hospital death were primarily cardiac (64.7%) or multiple organ system failure (17.6%). National Death Index linkage confirmed 23 deaths after discharge. Median survival (conditioned to hospital discharge) was 14.8 years (95% confidence interval [CI]: 12.3 to 25.6 years) for patients with trisomy 13 and 16.2 years (95% CI: 12 to 20.4 years) for patients with trisomy 18. Causes of late death included cardiac (43.5%), respiratory (26.1%), and pulmonary hypertension (13%).
			CONCLUSIONS:
			In-hospital mortality rate for all surgical risk categories was higher in patients with trisomy 13 or 18 than that reported for the general population. However, patients with trisomy 13 or 18, who were selected as acceptable candidates for cardiac intervention and who survived CHD intervention, demonstrated longer survival than previously reported. These findings can be used to counsel families and make program-level decisions on offering intervention to carefully selected patients.
			Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.
			PMID 28456396 DOI: 10.1016/j.athoracsur.2017.02.068

	==2012==		==2012==

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2012-05-06T11:27:09Z

2011

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	PMID 21990236		PMID 21990236

			===The impact of cardiac surgery in patients with trisomy 18 and trisomy 13 in Japan===
			Am J Med Genet A. 2011 Nov;155A(11):2641-6. doi: 10.1002/ajmg.a.34285. Epub 2011 Oct 11.

			Maeda J, Yamagishi H, Furutani Y, Kamisago M, Waragai T, Oana S, Kajino H, Matsuura H, Mori K, Matsuoka R, Nakanishi T.
			Source
			Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

			Abstract

			Congenital heart defects (CHD) are very common in patients with trisomy 18 (T18) and trisomy 13 (T13). The surgical indication of CHD remains controversial since the natural history of these trisomies is documented to be poor. To investigate the outcome of CHD in patients with T18 and T13, we collected and evaluated clinical data from 134 patients with T18 and 27 patients with T13 through nationwide network of Japanese Society of Pediatric Cardiology and Cardiac Surgery. In patients with T18, 23 (17%) of 134 were alive at this survey. One hundred twenty-six (94%) of 134 patients had CHDs. The most common CHD was ventricular septal defect (VSD, 59%). Sixty-five (52%) of 126 patients with CHD developed pulmonary hypertension (PH). Thirty-two (25%) of 126 patients with CHD underwent cardiac surgery and 18 patients (56%) have survived beyond postoperative period. While palliative surgery was performed in most patients, six cases (19%) underwent intracardiac repair for VSD. Operated patients survived longer than those who did not have surgery (P < 0.01). In 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. In this study, approximately a quarter of patients underwent surgery for CHD in both trisomies. Cardiac surgery may improve survival in selected patients with T18.
			Copyright © 2011 Wiley Periodicals, Inc.

			PMID 21990245

	==2007==		==2007==

Z8600021: /* 2007 */

2012-05-06T11:26:00Z

2007

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	PMID 22492767		PMID 22492767

			==2011==

			===Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis===
			Am J Med Genet A. 2011 Nov;155A(11):2626-33. doi: 10.1002/ajmg.a.34284. Epub 2011 Oct 11.

			Lakovschek IC, Streubel B, Ulm B.
			Source
			Department of Obstetrics and Gynecology, Medical University of Vienna, Vienna, Austria. ioana-claudia.lakovschek@meduniwien.ac.at

			Abstract

			Trisomy 13, trisomy 18, and triploidy belong to the chromosomal abnormalities which are compatible with life, but which are also associated with a high rate of spontaneous abortion, intrauterine death, and a short life span. This study was conducted to analyze natural outcome after prenatal diagnosis of these disorders. Between January 1, 1999 and December 31, 2009, we investigated all amniocenteses and chorionic villus biopsies carried out at our department. All cases with fetal diagnosis of triploidy, trisomy 13, and 18 were analyzed, with a focus on cases with natural outcome. Overall, 83 (78%) cases of pregnancy termination and 24 (22%) patients with natural outcome (NO) were identified. The NO group included 15 cases of trisomy 18, six cases of triploidy, and three cases of trisomy 13. No case of triploidy was born alive. The live birth rate was 13% for trisomy 18 and 33% for trisomy 13. The three live-born infants with trisomy 13 and 18 died early after a maximum of 87 hr postpartum. Our data are consistent with the literature concerning outcome of triploidy, with none or only a few live births. Analyzes of trisomy 13 and 18 indicate a very short postnatal life span. Different study designs and diverse treatment strategies greatly affect the fetal and neonatal outcome of fetuses with triploidy, trisomy 13, and 18. More studies analyzing natural outcome after prenatal diagnosis of these chromosomal abnormalities are needed. Non-termination of these pregnancies remains an option, and specialists advising parents need accurate data for counseling.
			Copyright © 2011 Wiley Periodicals, Inc.

			PMID 21990236

	==2007==		==2007==

Z8600021 at 11:19, 6 Mayıs 2012

2012-05-06T11:19:04Z

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	PMID 22492767		PMID 22492767

			==2007==


			===Histogenesis of retinal dysplasia in trisomy 13===
			Diagn Pathol. 2007 Dec 18;2:48.

			Chan A, Lakshminrusimha S, Heffner R, Gonzalez-Fernandez F.
			Source
			Department of Pathology, State University of New York, Buffalo, New York, USA. adachan@buffalo.edu

			Abstract

			BACKGROUND:
			Although often associated with holoprosencephaly, little detail of the histopathology of cyclopia is available. Here, we describe the ocular findings in a case of trisomy 13 to better understand the histogenesis of the rosettes, or tubules, characteristic of the retinal dysplasia associated with this condition.
			METHODS:
			A full pediatric autopsy was performed of a near term infant who died shortly after birth from multiple congenital anomalies including fused facial-midline structures. A detailed histopathological study of the ocular structures was performed. The expression of interphotoreceptor retinoid-binding protein (IRBP), cellular retinal-binding protein (CRALBP), rod opsin, and Sonic Hedgehog (Shh) were studied by immunohistochemistry.
			RESULTS:
			Holoprosencephaly, and a spectrum of anatomical findings characteristic of Patau's syndrome, were found. Cytogenetic studies demonstrated trisomy 13 [47, XY, +13]. The eyes were fused but contained two developed separate lenses. In contrast, the cornea, and angle structures were hypoplastic, and the anterior chamber had failed to form. The retina showed areas of normally laminated neural retina, whereas in other areas it was replaced by numerous neuronal rosettes. Histological and immunohistochemical studies revealed that the rosettes were composed of differentiated retinal neurons and Müller cell glia. In normally laminated retina, Shh expression was restricted to retinal-ganglion cells, and to a population of neurons in the inner zone of the outer nuclear layer. In contrast, Shh could not be detected in the dysplastic rosettes.
			CONCLUSION:
			The histopathology of cyclopia appears to be more complex than what may have been previously appreciated. In fact, the terms "cyclopia" and "synophthalmia" are misnomers as the underlying mechanism is a failure of the eyes to form separately during development. The rosettes found in the dysplastic retina are fundamentally different than those of retinoblastoma, being composed of a variety of differentiated cell types. The dysplastic rosettes are essentially laminated retina failing to establish a polarized orientation, resulting in the formation of tubules. Finally, our findings suggest that defective ganglion cell Shh expression may contribute to the ocular pathology of cyclopean.

			PMID 18088410

Z8600021 at 11:13, 6 Mayıs 2012

2012-05-06T11:13:59Z

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	PMID 22495937		PMID 22495937


			===Inpatient hospital care of children with trisomy 13 and trisomy 18 in the United States===
			Pediatrics. 2012 May;129(5):869-76. Epub 2012 Apr 9.

			Nelson KE, Hexem KR, Feudtner C.
			Source
			PolicyLab and Center for Clinical Effectiveness, Children's Hospital of Philadelphia, 3535 Market St, Room 1523, Philadelphia, PA 19104 feudtner@email.chop.edu.

			Abstract

			BACKGROUND AND OBJECTIVE:
			Trisomy 13 and trisomy 18 are generally considered fatal anomalies, with a majority of infants dying in the first year after birth. The inpatient hospital care that these patients receive has not been adequately described. This study characterized inpatient hospitalizations of children with trisomy 13 and trisomy 18 in the United States, including number and types of procedures performed.
			METHODS:
			Retrospective repeated cross-sectional assessment of hospitalization data from the nationally representative US Kids' Inpatient Database, for the years 1997, 2000, 2003, 2006, and 2009. Included hospitalizations were of patients aged 0 to 20 years with a diagnosis of trisomy 13 or trisomy 18.
			RESULTS:
			The number of hospitalizations for each trisomy type ranged from 846 to 907 per year for trisomy 13 (P = .77 for temporal trend) and 1036 to 1616 per year for trisomy 18 (P < .001 for temporal trend). Over one-third (36%) of the hospitalizations were of patients older than 1 year of age. Patients underwent a total of 2765 major therapeutic procedures, including creation of esophageal sphincter (6% of hospitalizations; mean age 23 months), repair of atrial and ventricular septal defects (4%; mean age 9 months), and procedures on tendons (4%; mean age 8 years).
			CONCLUSIONS:
			Children with trisomy 13 and trisomy 18 receive significant inpatient hospital care. Despite the conventional understanding of these syndromes as lethal, a substantial number of children are living longer than 1 year and undergoing medical and surgical procedures as part of their treatment.

			PMID 22492767