Research & Literature

Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies.

Zhang H, Gao Y, Jiang F, et al.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2015; (45(5)):530-8 doi:10.1002/uog.14792.

Apneas observed in trisomy 18 neonates should be differentiated from epileptic apneas.

Fukasawa T, Kubota T, Tanaka M, et al.

American journal of medical genetics. Part A 2015; (167A(3)):602-6 doi:10.1002/ajmg.a.36929.

Severe acute abdomen caused by symptomatic Meckel's diverticulum in three children with trisomy 18.

Hayashi A, Kumada T, Furukawa O, et al.

American journal of medical genetics. Part A 2015; (167A(10)):2447-50 doi:10.1002/ajmg.a.37098.

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.

Fetal outcome of trisomy 18 diagnosed after 22 weeks of gestation: Experience of 123 cases at a single perinatal center.

Nagase H, Ishikawa H, Toyoshima K, et al.

Congenital anomalies 2016; (56(1)):35-40 doi:10.1111/cga.12118.

[Prevalence of congenital abnormalities identified in fetuses with 13, 18 and 21 chromosomal trisomy].

Emer CS, Duque JA, Müller AL, et al.

Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia 2015; (37(7)):333-8.

Committee Opinion No. 640: Cell-Free DNA Screening For Fetal Aneuploidy.

Obstetrics and gynecology 2015; (126(3)):e31-e37 doi:10.1097/AOG.0000000000001051.

Differences in mortality and morbidity according to gestational ages and birth weights in infants with trisomy 18.

Imai K, Uchiyama A, Okamura T, et al.

American journal of medical genetics. Part A 2015; (167A(11)):2610-7 doi:10.1002/ajmg.a.37246.

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.

[Trisomy 18 syndrome: A case report].

Saldarriaga W, Rengifo-Miranda H, Ramírez-Cheyne J

Revista chilena de pediatria 2016; (87(2)):129-36.

Phenotypic extremes in liveborn monozygotic twins with mosaic Edwards syndrome.

Bussmann N, Cunningham K, Green A, Ryan CA

BMJ case reports 2015; (2015()).

Trisomy 18: A single-center evaluation of management trends and experience with aggressive obstetric or neonatal intervention.

Subramaniam A, Jacobs AP, Tang Y, et al.

American journal of medical genetics. Part A 2016; (170A(4)):838-46 doi:10.1002/ajmg.a.37529.

Investigation of the diagnostic value of chromosome analysis and bacterial artificial chromosome-based array comparative genomic hybridization in prenatal diagnosis.

Savli H, Keskin SE, Cine N

Turkish journal of medical sciences 2015; (45(6)):1263-7.

Management Considerations for Ongoing Pregnancies Complicated by Trisomy 13 and 18.

Dotters-Katz SK, Kuller JA, Grace MR, et al.

Obstetrical & gynecological survey 2016; (71(5)):295-300 doi:10.1097/OGX.0000000000000304.

The accuracy of cell-free fetal DNA-based non-invasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta-analysis.

Mackie FL, Hemming K, Allen S, et al.

BJOG : an international journal of obstetrics and gynaecology 2017; (124(1)):32-46 doi:10.1111/1471-0528.14050.

Trisomy 18: A survey of opinions, attitudes, and practices of neonatologists.

Jacobs AP, Subramaniam A, Tang Y, et al.

American journal of medical genetics. Part A 2016; (170(10)):2638-43 doi:10.1002/ajmg.a.37807.

Cardiac Surgical Repair Should Be Offered to Infants with Trisomy 18, Interrupted Aortic Arch and Ventricular Septal Defect.

Kavarana MN

The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2016; (44(2)):283-5 doi:10.1177/1073110516654121.

Management of Pregnancy and Survival of Infants with Trisomy 13 or Trisomy 18.

Dotters-Katz SK, Carlson LM, Johnson J, et al.

American journal of perinatology 2016; (33(12)):1121-7 doi:10.1055/s-0036-1585580.

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.

Medical interventions and survival by gender of children with trisomy 18.

Donovan JH, Krigbaum G, Bruns DA

American journal of medical genetics. Part C, Seminars in medical genetics 2016; (172(3)):272-8 doi:10.1002/ajmg.c.31522.

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.

A Case of Anterior Segment Dysgenesis with Iridolenticular Adhesions in Trisomy 18.

Atwal PS

Journal of pediatric genetics 2015; (4(4)):207-8 doi:10.1055/s-0035-1565266.

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.

Transitions in Care for Infants with Trisomy 13 or 18.

Patterson J, Taylor G, Smith M, et al.

American journal of perinatology 2017; (34(9)):887-894 doi:10.1055/s-0037-1600912.

[Mosaic trisomy 18. Series of cases].

Cammarata-Scalisi F, Lacruz-Rengel MA, Araque D, et al.

Archivos argentinos de pediatria 2017; (115(3)):e183-e186 doi:10.5546/aap.2017.e183.

Detection of an Underlying 22q11.2 Duplication in a Female Neonate With Trisomy 18.

Turbiville DE, Wu H, Dong J

Laboratory medicine 2017; (48(4)):372-375 doi:10.1093/labmed/lmx039.

Sensitivity of prenatal ultrasound for detection of trisomy 18.

Becker DA, Tang Y, Jacobs AP, 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 2019; (32(22)):3716-3722 doi:10.1080/14767058.2018.1471460.

Trisomy 18 and Congenital Heart Disease: Single-Center Review of Outcomes and Parental Perspectives.

Davisson NA, Clark JB, Chin TK, Tunks RD

World journal for pediatric & congenital heart surgery 2018; (9(5)):550-556 doi:10.1177/2150135118782145.

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.

Strawberry skull in Edwards syndrome.

Mudaliyar US, Mudaliyar SU

BJR case reports 2017; (3(4)):20170045 doi:10.1259/bjrcr.20170045.

Experiences of children with trisomy 18 referred to pediatric palliative care services on two continents.

Mullin J, Wolfe J, Bluebond-Langner M, Craig F

American journal of medical genetics. Part A 2019; (179(6)):903-907 doi:10.1002/ajmg.a.61149.

Factors related to survival discharge in trisomy 18: A retrospective multicenter study.

Kato E, Kitase Y, Tachibana T, et al.

American journal of medical genetics. Part A 2019; (179(7)):1253-1259 doi:10.1002/ajmg.a.61146.

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.

Management of apnea in infants with trisomy 18.

Taira R, Inoue H, Sawano T, et al.

Developmental medicine and child neurology 2020; (62(7)):874-878 doi:10.1111/dmcn.14403.

Impacts of surgical interventions on the long-term outcomes in individuals with trisomy 18.

Iida C, Muneuchi J, Yamamoto J, et al.

Journal of pediatric surgery 2020; (55(11)):2466-2470 doi:10.1016/j.jpedsurg.2019.12.009.

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.

Detection of paternal origin of fetal trisomy 18 in a pregnancy conceived by assisted reproductive technology and in vitro fertilization.

Chen CP, Chern SR, Wang LK, et al.

Taiwanese journal of obstetrics & gynecology 2020; (59(4)):607-609 doi:10.1016/j.tjog.2020.05.024.

Unusual Longevity of Edwards Syndrome: A Case Report.

Alshami A, Douedi S, Guida M, et al.

Genes 2020; (11(12)) doi:10.3390/genes11121466.

Anesthesia for children with complete trisomy 18 (Edwards syndrome): A cohort review of 84 anesthesia encounters in nine patients.

Birmingham EE, Stucke AG, Diaz CD

Paediatric anaesthesia 2021; (31(4)):419-428 doi:10.1111/pan.14131.

[Trisomy 18 or postnatal Edward´s syndrome: descriptive study conducted at the University Hospital Center of Casablanca and literature review].

Outtaleb FZ, Errahli R, Imelloul N, et al.

The Pan African medical journal 2020; (37()):309 doi:10.11604/pamj.2020.37.309.26205.

Hirschsprung disease with Edward syndrome: A rare association: A case report.

Shrestha BM, Shrestha D, Shrestha S, et al.

International journal of surgery case reports 2021; (84()):106084 doi:10.1016/j.ijscr.2021.106084.

Characterization of a 16-Year-Old Long-Time Survivor of Edwards Syndrome.

Khan F, Jafri I

Cureus 2021; (13(5)):e15205 doi:10.7759/cureus.15205.

Double outlet right ventricle in the setting of hypoplastic left ventricle, mitral atresia, interruption of aortic arch, and uncommon intra-atrial anomalies in Trisomy 18.

Farruggio S, Caruso E

Echocardiography (Mount Kisco, N.Y.) 2021; (38(8)):1359-1364 doi:10.1111/echo.15142.

Trisomy 18 Trends over the Last 20 Years.

Fick TA, Sexson Tejtel SK

The Journal of pediatrics 2021; (239()):206-211.e1 doi:10.1016/j.jpeds.2021.07.062.

Direct hyperbilirubinemia and cholestasis in trisomy 13 and 18.

Kepple JW, Peeples ES

American journal of medical genetics. Part A 2022; (188(2)):548-555 doi:10.1002/ajmg.a.62552.

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.

Prenatal phenotypic spectrum of full trisomy 18 in an Indian cohort.

Sandal S, Mahay SB, Dimri Gupta N, et al.

American journal of medical genetics. Part A 2022; (188(6)):1904-1908 doi:10.1002/ajmg.a.62692.

Perinatal Outcomes of Fetuses and Infants Diagnosed with Trisomy 13 or Trisomy 18.

Cortezzo DE, Tolusso LK, Swarr DT

The Journal of pediatrics 2022; (247()):116-123.e5 doi:10.1016/j.jpeds.2022.04.010.

Trisomy 18-when the diagnosis is compatible with life.

Silva C, Ferreira MC, Saraiva J, Cancelinha C

European journal of pediatrics 2022; (181(7)):2809-2819 doi:10.1007/s00431-022-04477-w.

Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 18 at amniocentesis in a pregnancy with a favorable fetal outcome and maternal uniparental disomy 18.

Chen CP, Su JW, Chern SR, et al.

Taiwanese journal of obstetrics & gynecology 2022; (61(4)):684-689 doi:10.1016/j.tjog.2022.05.005.

Seizures in trisomy 18: Prevalence, description, and treatment.

Jaspersen SL, Bruns DA, Candee MS, et al.

American journal of medical genetics. Part A 2023; (191(4)):1026-1037 doi:10.1002/ajmg.a.63113.

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.

Phenotypic Spectrum of Trisomy 18 Mosaicism: a New Patient and Literature Review.

Sun W, Wang L, Liu T, et al.

Clinical laboratory 2023; (69(3)) doi:10.7754/Clin.Lab.2022.220610.

Prenatal echocardiography in Trisomy 18 - the key to diagnosis and further management in the second half of pregnancy.

Nowakowska A, Sylwestrzak O, Strzelecka I, et al.

Ginekologia polska 2023; (94(5)):366-373 doi:10.5603/GP.a2023.0035.

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.

Non-invasive prenatal testing for the diagnosis of congenital abnormalities: Insights from a large multicenter study in southern China.

Cai M, Lin N, Chen X, et al.

Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica 2023; (56()):e12506 doi:10.1590/1414-431X2023e12506.

Prenatal diagnosis of mosaic trisomy 18 and maternal uniparental disomy 18 by amniocentesis in a pregnancy associated with cytogenetic discrepancy in various tissues and a favorable fetal outcome.

Chen CP, Wu FT, Pan YT, et al.

Taiwanese journal of obstetrics & gynecology 2023; (62(4)):606-610 doi:10.1016/j.tjog.2023.05.012.

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.

Wilms Tumor in Child With Trisomy 18 and Horseshoe Kidney.

Chen E, Hackney L, VanHeyst K, Miyasaka EA

Journal of pediatric hematology/oncology 2023; (45(8)):e1018-e1022 doi:10.1097/MPH.0000000000002756.

Causes of death in individuals with trisomy 18 after the first year of life.

Mehl JM, Gelfond J, Carey JC, Cody JD

American journal of medical genetics. Part A 2024; (194(2)):279-287 doi:10.1002/ajmg.a.63436.

Airway findings in trisomy 13 and trisomy 18: A 10-year retrospective review.

Dress C, Silva CT, von Allmen DC, Zak S

Pediatric pulmonology 2024; (59(2)):342-347 doi:10.1002/ppul.26750.

Optimal Surgical Method and Timing for Low-birth-weight Esophageal Atresia Babies: Multi-institutional Observational Study.

Shimizu T, Takamizawa S, Yanai T, et al.

Journal of pediatric surgery 2024; (59(2)):182-186 doi:10.1016/j.jpedsurg.2023.10.013.

Significant improvement in survival outcomes of trisomy 18 with neonatal intensive care compared to non-intensive care: a single-center study.

Koshida S, Takahashi K

PeerJ 2023; (11()):e16537 doi:10.7717/peerj.16537.

Cause, severity, and efficacy of treatment for hearing loss in children with Trisomy 18: A single institution-based retrospective study.

Sato R, Yoshimura H, Kosho T, Takumi Y

American journal of medical genetics. Part A 2024; (194(4)):e63492 doi:10.1002/ajmg.a.63492.

Treatment courses and outcomes of oesophageal atresia in patients with trisomy 18: a case series of 271 patients from a nationwide database in Japan.

Kutsukake M, Konishi T, Fujiogi M, et al.

Archives of disease in childhood. Fetal and neonatal edition 2024; (109(3)):336-341 doi:10.1136/archdischild-2023-326354.

Effect of cardiac surgery on survival in patients with trisomy 18: A single-center experience.

Çelik M, Gökdemir M, Cındık N, Çağrı Günaydın A

Turk gogus kalp damar cerrahisi dergisi 2023; (31(4)):440-445 doi:10.5606/tgkdc.dergisi.2023.24741.

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.

Parent Narratives Provide Perspectives on the Experience of Care in Trisomy 18.

Bierer R, Mladucky J, Anderson R, Carey JC

American journal of medical genetics. Part C, Seminars in medical genetics 2024; (196(2-3)):e32114 doi:10.1002/ajmg.c.32114.

Operative and nonoperative outcomes in patients with trisomy 13 and 18 with congenital heart disease.

Greene CL, Schulz A, Chávez M, et al.

JTCVS open 2024; (20()):123-131 doi:10.1016/j.xjon.2024.06.007.

Trisomy 18 and the possibility of choice: The importance of Perinatal Hospice's support.

Visconti D, Esposito V, Brugnoli F, et al.

European journal of pediatrics 2025; (184(2)):141 doi:10.1007/s00431-025-05970-8.

Closure of ventricular septal defect in children with trisomy 18: perioperative events and long-term survival.

Nemoto S, Kishi K, Konishi H, et al.

Interdisciplinary cardiovascular and thoracic surgery 2025; (40(2)) doi:10.1093/icvts/ivaf010.

A Teen With Trisomy 18: Challenges and Triumphs of a Long Life With Edwards Syndrome.

Tate WB, Ward K, Snider ZG

Cureus 2025; (17(1)):e77417 doi:10.7759/cureus.77417.

Chorionic Villus Sampling for Rapid Confirmation of High-Risk NIPT Results for Trisomy 21, 18, and 13.

Srebniak MI, Weerts M, Joosten M, et al.

Prenatal diagnosis 2025; (45(8)):988-993 doi:10.1002/pd.6837.

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.

Current Nationwide Landscape of Cardiac Surgery for Children With Trisomy 18 in Japan.

Nemoto S, Tachimori H, Kosho T, et al.

American journal of medical genetics. Part A 2026; (200(1)):77-83 doi:10.1002/ajmg.a.64232.

Surviving trisomy 18: A case report of a 5-year-old girl.

Banat MA, Mujahed R, Yaseen SS, et al.

Medicine 2025; (104(35)):e44225 doi:10.1097/MD.0000000000044225.

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.

Trisomy 18 and Trisomy 13: A Retrospective Cohort Study at a Tertiary Hospital.

Uygur Külcü N, Erol N, Oguz S, et al.

Children (Basel, Switzerland) 2026; (13(2)) doi:10.3390/children13020271.

Complex mosaic form of trisomy chromosome 18 and monosomy chromosome X in a girl with esophageal atresia and mild developmental delay: Diagnostic and therapeutic challenge and a review of literature.

Chrzanowska J, Oparska A, Wróblewska A, et al.

Advances in clinical and experimental medicine : official organ Wroclaw Medical University 2026; (35(7)):1307-1312 doi:10.17219/acem/221563.

Scoliosis in Patients with Trisomy 18 Surviving More Than One Year.

Machida M, Taira K, Rocos B, et al.

Spine surgery and related research 2026; (10(4)):607-612 doi:10.22603/ssrr.2025-0375.

Intensive versus comfort-focused care in neonates with trisomy 18: A systematic review and meta-analysis.

Fonseca Queiroz L, Lemos MJ, Curi-Pesantes B, et al.

Journal of neonatal-perinatal medicine 2026; 19345798261490120 doi:10.1177/19345798261490120.