Research & Literature

Digitoxin metabolism by rat liver microsomes.

Schmoldt A, Benthe HF, Haberland G

Biochemical pharmacology 1975; (24(17)):1639-41.

Identification of adenylate cyclase-coupled beta-adrenergic receptors with radiolabeled beta-adrenergic antagonists.

Lefkowitz RJ

Biochemical pharmacology 1975; (24(18)):1651-8 doi:10.1016/0006-2952(75)90001-5.

Holoprosencephaly: a survey of the entity, with embryology and fetal imaging.

Winter TC, Kennedy AM, Woodward PJ

Radiographics : a review publication of the Radiological Society of North America, Inc 2015; (35(1)):275-90 doi:10.1148/rg.351140040.

Developmental status of 22 children with trisomy 18 and eight children with trisomy 13: implications and recommendations.

Bruns DA

American journal of medical genetics. Part A 2015; (167A(8)):1807-15 doi:10.1002/ajmg.a.37102.

Medical procedures and outcomes of Japanese patients with trisomy 18 or trisomy 13: analysis of a nationwide administrative database of hospitalized patients.

Ishitsuka K, Matsui H, Michihata N, et al.

American journal of medical genetics. Part A 2015; (167A(8)):1816-21 doi:10.1002/ajmg.a.37104.

A Case Study of Trisomy 13: Balancing Hope and Reality.

Stafford CO

Advances in neonatal care : official journal of the National Association of Neonatal Nurses 2015; (15(4)):285-9 doi:10.1097/ANC.0000000000000208.

Congenital anomalies associated with trisomy 18 or trisomy 13: A registry-based study in 16 European countries, 2000-2011.

Springett A, Wellesley D, Greenlees R, et al.

American journal of medical genetics. Part A 2015; (167A(12)):3062-9 doi:10.1002/ajmg.a.37355.

Medical and Ethical Considerations Related to Viable Fetuses with Trisomy 13 in the 36th Week of Pregnancy--a Review of the Literature.

Pawelec M, Dżugalik M, Pietras J, et al.

Advances in clinical and experimental medicine : official organ Wroclaw Medical University 2015; (24(5)):911-21 doi:10.17219/acem/26324.

Long-term survival of full trisomy 13 in a 14 year old male: a case report.

Imataka G, Hagisawa S, Nitta A, et al.

European review for medical and pharmacological sciences 2016; (20(5)):919-22.

Survival and Surgical Interventions for Children With Trisomy 13 and 18.

Nelson KE, Rosella LC, Mahant S, Guttmann A

JAMA 2016; (316(4)):420-8 doi:10.1001/jama.2016.9819.

Parental hopes, interventions, and survival of neonates with trisomy 13 and trisomy 18.

Janvier A, Farlow B, Barrington KJ

American journal of medical genetics. Part C, Seminars in medical genetics 2016; (172(3)):279-87 doi:10.1002/ajmg.c.31526.

Shared decision making and the pathways approach in the prenatal and postnatal management of the trisomy 13 and trisomy 18 syndromes.

Andrews SE, Downey AG, Showalter DS, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2016; (172(3)):257-63 doi:10.1002/ajmg.c.31524.

Using Patient-Centered Care After a Prenatal Diagnosis of Trisomy 18 or Trisomy 13: A Review.

Haug S, Goldstein M, Cummins D, et al.

JAMA pediatrics 2017; (171(4)):382-387 doi:10.1001/jamapediatrics.2016.4798.

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

Peterson JK, Kochilas LK, Catton KG, et al.

The Annals of thoracic surgery 2017; (103(6)):1941-1949 doi:10.1016/j.athoracsur.2017.02.068.

Next-generation Sequencing and Karyotype Analysis for the Diagnosis of Robertsonian Translocation Type Trisomy 13: A Case Report.

Sha J, Liu F, Zhang B, et al.

Iranian journal of public health 2017; (46(6)):848-851.

Factors Influencing Outcomes After Cardiac Intervention in Infants with Trisomy 13 and 18.

Peterson R, Calamur N, Fiore A, et al.

Pediatric cardiology 2018; (39(1)):140-147 doi:10.1007/s00246-017-1738-y.

Congenital Heart Surgery on In-Hospital Mortality in Trisomy 13 and 18.

Kosiv KA, Gossett JM, Bai S, Collins RT

Pediatrics 2017; (140(5)) doi:10.1542/peds.2017-0772.

Prenatal diagnosis of low-level mosaicism for trisomy 13 at amniocentesis associated with a favorable outcome.

Chen CP, Chern SR, Wu PS, et al.

Taiwanese journal of obstetrics & gynecology 2017; (56(6)):840-842 doi:10.1016/j.tjog.2017.10.025.

Safety and efficacy of noncardiac surgical procedures in the management of patients with trisomy 13: A single institution-based detailed clinical observation.

Shibuya S, Miyake Y, Takamizawa S, et al.

American journal of medical genetics. Part A 2018; (176(5)):1137-1144 doi:10.1002/ajmg.a.38678.

Clinical courses of children with trisomy 13 receiving intensive neonatal and pediatric treatment.

Nishi E, Takasugi M, Kawamura R, et al.

American journal of medical genetics. Part A 2018; (176(9)):1941-1949 doi:10.1002/ajmg.a.40350.

An 8-week-old infant with trisomy 13: dilemmas for medical decision making.

Staso P, Paitl S, Patel DR

AME case reports 2018; (2()):3 doi:10.21037/acr.2018.01.03.

Mortality and Resource Use Following Cardiac Interventions in Children with Trisomy 13 and Trisomy 18 and Congenital Heart Disease.

Domingo L, Carey JC, Eckhauser A, et al.

Pediatric cardiology 2019; (40(2)):349-356 doi:10.1007/s00246-018-2001-x.

Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses.

Létard P, Guimiot F, Dupont C, et al.

American journal of medical genetics. Part A 2018; (176(11)):2325-2330 doi:10.1002/ajmg.a.40505.

Partial Trisomy of Chromosome 13 with a Novel Translocation (8 ; 13) and Unique Clinical Presentation in a Palestinian Infant.

Abuhamda A, Elsous A, Sharif FA

Case reports in medicine 2019; (2019()):4561761 doi:10.1155/2019/4561761.

Cardiac Surgery in Patients With Trisomy 13 and 18: An Analysis of The Society of Thoracic Surgeons Congenital Heart Surgery Database.

Cooper DS, Riggs KW, Zafar F, et al.

Journal of the American Heart Association 2019; (8(13)):e012349 doi:10.1161/JAHA.119.012349.

Building trust and improving communication with parents of children with Trisomy 13 and 18: A mixed-methods study.

Janvier A, Farlow B, Barrington KJ, et al.

Palliative medicine 2020; (34(3)):262-271 doi:10.1177/0269216319860662.

Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis.

Goel N, Morris JK, Tucker D, et al.

American journal of medical genetics. Part A 2019; (179(12)):2382-2392 doi:10.1002/ajmg.a.61365.

Mixed method study of quality of life for children with trisomy 18 and 13 after cardiac surgery.

Weaver MS, Birge N, Hsu H, et al.

Cardiology in the young 2020; (30(2)):231-237 doi:10.1017/S1047951120000013.

A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism.

Monin P, Reynaud N, Hanna N, et al.

Cytogenetic and genome research 2020; (160(2)):72-79 doi:10.1159/000506319.

[The value of combined use of chromosomal karyotyping and chromosome microarray analysis for prenatal diagnosis].

Rao H, Liu Y, Lu Q, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020; (37(4)):392-396 doi:10.3760/cma.j.issn.1003-9406.2020.04.007.

Sleep disordered breathing in children with trisomy 13 and trisomy 18.

Kettler EB, Bhattacharjee R, Lesser D, Nation J

American journal of otolaryngology 2020; (41(6)):102555 doi:10.1016/j.amjoto.2020.102555.

Opioid-free anesthesia for a child with trisomy 13 with obstructive sleep apnea: a case report.

Yamamoto M, Miyazaki I, Kishikawa H, Sakamoto A

JA clinical reports 2020; (6(1)):45 doi:10.1186/s40981-020-00354-3.

Impact of trisomy 13 and 18 on airway anomalies and pulmonary complications after cardiac surgery.

Swanson SK, Schumacher KR, Ohye RG, Zampi JD

The Journal of thoracic and cardiovascular surgery 2021; (162(1)):241-249 doi:10.1016/j.jtcvs.2020.08.082.

Low-level mosaic trisomy 13 at amniocentesis associated with a favorable outcome in a pregnancy.

Chen CP, Chern SR, Wu FT, et al.

Taiwanese journal of obstetrics & gynecology 2020; (59(6)):935-937 doi:10.1016/j.tjog.2020.09.022.

Clinical Course for Patients With Trisomy 13 and 18 Pursuing Life-Prolonging Therapies Versus Comfort-Directed Care.

Milligan MCP, Jackson LE, Maurer SH

The American journal of hospice & palliative care 2021; (38(10)):1225-1229 doi:10.1177/1049909120985210.

Interdisciplinary care of children with trisomy 13 and 18.

Weaver MS, Anderson V, Beck J, et al.

American journal of medical genetics. Part A 2021; (185(3)):966-977 doi:10.1002/ajmg.a.62051.

Surveillance guidelines for children with trisomy 13.

Kepple JW, Fishler KP, Peeples ES

American journal of medical genetics. Part A 2021; (185(5)):1631-1637 doi:10.1002/ajmg.a.62133.

Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event.

Morán-Barroso VF, Cervantes A, Rivera-Vega MDR, et al.

Molecular genetics & genomic medicine 2021; (9(9)):e1762 doi:10.1002/mgg3.1762.

Cardiac Interventions for Patients With Trisomy 13 and Trisomy 18: Experience, Ethical Issues, Communication, and the Case for Individualized Family-Centered Care.

Cleary JP, Janvier A, Farlow B, et al.

World journal for pediatric & congenital heart surgery 2022; (13(1)):72-76 doi:10.1177/21501351211044132.

Sonography of fetal holoprosencephaly: a guide to recognize the lesser varieties.

Montaguti E, Cariello L, Brunelli E, et al.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2022; (35(25)):9717-9723 doi:10.1080/14767058.2022.2050900.

Prognostic factors, psychomotor development and life of trisomy 13 patients.

Yamagishi H, Osaka H, Monden Y, Kono Y

Pediatrics international : official journal of the Japan Pediatric Society 2022; (64(1)):e15369 doi:10.1111/ped.15369.

Prenatal Sonographic Features of Rare Chromosome 13 Aberrations.

Moczulska H, Pietrusinski M, Serafin M, et al.

The application of clinical genetics 2022; (15()):145-151 doi:10.2147/TACG.S370163.

Ten-year survival of children with trisomy 13 or trisomy 18: a multi-registry European cohort study.

Glinianaia SV, Rankin J, Tan J, et al.

Archives of disease in childhood 2023; (108(6)):461-467 doi:10.1136/archdischild-2022-325068.

Holoprosencephaly in Patau Syndrome.

Schlosser AS, Costa GJC, Silva HSD, et al.

Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo 2023; (41()):e2022027 doi:10.1590/1984-0462/2023/41/2022027.

Otolaryngologic Manifestations of Trisomy 13 and Trisomy 18 in Pediatric Patients.

Benson J, Stewart C, Kenna MA, Shearer AE

The Laryngoscope 2023; (133(6)):1501-1506 doi:10.1002/lary.30350.

[Accidental discovery of copy number variation on chromosome 1 in a fetus with high risk of trisomy 13 suggested by NIPT].

Chang J, Song Y, Qi Q, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023; (40(8)):922-927 doi:10.3760/cma.j.cn511374-20220818-00560.

The common trisomy syndromes, their cardiac implications, and ethical considerations in care.

Kosiv KA, Mercurio MR, Carey JC

Current opinion in pediatrics 2023; (35(5)):531-537 doi:10.1097/MOP.0000000000001278.

Structured Framework for Multidisciplinary Parent Counseling and Medical Interventions for Fetuses and Infants with Trisomy 13 or Trisomy 18.

Kim AJH, Marshall M, Gievers L, et al.

American journal of perinatology 2024; (41(S 01)):e2666-e2673 doi:10.1055/s-0043-1772748.

Impact of tracheostomies on the long-term survival of patients with trisomy 13 syndrome.

Tamaki S, Iwatani S, Hagimoto S, et al.

American journal of medical genetics. Part A 2023; (191(11)):2736-2742 doi:10.1002/ajmg.a.63393.

The Co-Existence of Patent Omphalomesenteric Duct and Omphalocele in Patau's Syndrome in Saudi Arabia: A Case Report.

Beyari B, Alhassan Y, Gabra A, et al.

Cureus 2023; (15(12)):e50793 doi:10.7759/cureus.50793.

The American Association for Thoracic Surgery (AATS) 2023 Expert Consensus Document: Recommendation for the care of children with trisomy 13 or trisomy 18 and a congenital heart defect.

St Louis JD, Bhat A, Carey JC, et al.

The Journal of thoracic and cardiovascular surgery 2024; (167(5)):1519-1532 doi:10.1016/j.jtcvs.2023.11.054.

Contemporary Trends in Cardiac Surgical Care for Trisomy 13 and 18 Patients Admitted to Hospitals in the United States.

Greenberg JW, Kulshrestha K, Ramineni A, et al.

The Journal of pediatrics 2024; (268()):113955 doi:10.1016/j.jpeds.2024.113955.

"She was finally mine": the moral experience of families in the context of trisomy 13 and 18- a scoping review with thematic analysis.

Ritchie Z, Teachman G, Shaul RZ, Smith MJ

BMC medical ethics 2024; (25(1)):24 doi:10.1186/s12910-023-00994-x.

Phenotypic and cytogenetic variability of patau syndrome in Morocco.

Hammou HA, Sennaoui M, Bouzid F, et al.

African health sciences 2023; (23(4)):575-581 doi:10.4314/ahs.v23i4.60.

Prenatal Diagnosis of Cleft Lip and Palate: A Retrospective Study.

Brăila AD, Damian CM, Albu CC, et al.

Journal of clinical medicine 2024; (13(16)) doi:10.3390/jcm13164804.

Holoprosencephaly spectrum: an up-to-date overview of classification, genetics and neuroimaging.

Gomez GD, Corrêa DG, Trapp B, et al.

Japanese journal of radiology 2025; (43(1)):13-31 doi:10.1007/s11604-024-01655-8.

Early assessment of clinical complexity and home care in patients affected by trisomy 13 and 18.

Zanin A, Patti M, Rosato I, et al.

European journal of pediatrics 2025; (184(3)):194 doi:10.1007/s00431-025-06020-z.

Lobar holoprosencephaly with associated meningocele: A rare case report of a 25-year-old patient with multiple seizures.

Barman P, Mishra GV, Murugan G, et al.

Radiology case reports 2025; (20(4)):2004-2008 doi:10.1016/j.radcr.2025.01.029.

Changes in Hospital Care of Newborn Infants with Trisomy 13.

Ignatz-Hoover AO, Farghaly MAA, Crist A, et al.

Maternal and child health journal 2025; (29(5)):622-627 doi:10.1007/s10995-025-04072-z.

Gastrostomy Tube Placement in Patients With Trisomy 13 and 18: Surgical Decision Making and Outcomes.

Mannava SV, Muraru R, Mesfin FM, et al.

Journal of pediatric surgery 2025; (60(5)):162249 doi:10.1016/j.jpedsurg.2025.162249.

Ethical challenges and justice concerns for infants and children with life-limiting conditions and significant disability, including trisomy 13 and 18.

Pyle AK, Mercurio MR

Seminars in perinatology 2025; (49(6)):152101 doi:10.1016/j.semperi.2025.152101.

Outcomes of heart surgery in neonates with trisomy 13 and 18: a systematic review with metanalysis.

de Sá Bittencourt Câmara Bastos C, Vale da Cruz L, Hirano Arruda Moraes L, et al.

European journal of pediatrics 2025; (184(7)):430 doi:10.1007/s00431-025-06274-7.

Guidance for Caring for Infants and Children With Trisomy 13 and Trisomy 18: Clinical Report.

Pyle AK, George TN, Cummings JJ, et al.

Pediatrics 2025; (156(2)) doi:10.1542/peds.2025-072719.

A Longitudinal Case Study of Renal Cyst Progression and Regression in Trisomy 13.

Yamabe F, Shindo T, Haneda K, et al.

Clinical case reports 2025; (13(9)):e70851 doi:10.1002/ccr3.70851.

Long-Term Survival Among Children With Trisomy 13 and Trisomy 18 by Cytogenetic Status.

Ludorf KL, Benjamin RH, Shumate CJ, et al.

JAMA network open 2025; (8(9)):e2529885 doi:10.1001/jamanetworkopen.2025.29885.

Beyond the Diagnosis: A Journey of an 8-Year-Old Girl with Patau Syndrome: Case Report.

Aleksander N, Bukała A, Borowska W, et al.

Children (Basel, Switzerland) 2025; (12(12)) doi:10.3390/children12121632.

Severe Progression of Scoliosis Beyond Skeletal Maturity in Partial Trisomy 13: A Case Report Expanding the Phenotypic Spectrum.

Fabregas A, Lugo E, Nice E, et al.

Cureus 2026; (18(4)):e106286 doi:10.7759/cureus.106286.