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Down Syndrome Treatment & Management

  • Author: Harold Chen, MD, MS, FAAP, FACMG; Chief Editor: Maria Descartes, MD  more...
Updated: May 05, 2016

Approach Considerations

Physicians and parents should be aware of the range of psychomotor potential so that early intervention, schooling, and community placement are provided.

Despite continued work, no notable medical treatments for intellectual disability associated with Down syndrome have been forthcoming. However, the dramatic improvements in medical care described below have greatly improved the quality of life for patient and increased their life expectancy.

Usual immunizations and well childcare should be performed as the American Academy of Pediatrics recommends. Associated conditions should be monitored periodically as the child grows older.

Surgical management of associated conditions should be provided as appropriate. Down syndrome alone does not adversely affect surgical outcomes in the absence of pulmonary hypertension. Because of potential atlanto-occipital instability, care should be taken when sedation and airway management are considered for procedures or for consideration of sports participation.

Further outpatient care may include the following:

  • Audiologic evaluation for hearing loss
  • Apnea monitoring

Regular screening is necessary for institutionalized older adults to diagnose early-onset dementia, epilepsy, hypothyroidism, and early loss of visual acuity and hearing.


Surgical Care

Timely surgical treatment of cardiac anomalies, which are common during the first 6 months of life, may be necessary to prevent serious complications and is crucial for optimal survival.

Prompt surgical repair is necessary for gastrointestinal (GI) anomalies, most commonly duodenal atresia and Hirschsprung disease. Other GI anomalies include tracheoesophageal fistula, pyloric stenosis, annular pancreas, aganglionic megacolon, and imperforate anus.

Surgical intervention may be necessary to reduce atlantoaxial subluxation and to stabilize the upper segment of the cervical spine if neurologic deficits are clinically significant.

Congenital cataracts occur in about 3% of children and must be extracted soon after birth to allow light to reach the retina. Afterward, appropriate correction with glasses or contact lenses helps ensure adequate vision.

Surgical intervention in children with Down syndrome has a high risk of complications, particularly infection and wound healing problems.[51] Careful anesthetic airway management is needed because of the associated risk of cervical spine instability. Preoperative evaluation for anesthesia must include adequate evaluation of the airway and the patient’s neurologic status. Cervical radiography (with flexion and extension views) should be performed when any neurologic deficit suggests spinal-cord compression.

During laryngoscopy and intubation, the patient’s head should be maintained in a neutral position, and hyperextension should be avoided. Anticholinergics can be prescribed to control hypersecretion in the airways. Other airway complications include subglottic stenosis and obstructive apnea, which may result from a relatively large tongue, enlarged adenoids, and midfacial hypoplasia. Adenotonsillectomy may be performed to manage obstructive sleep apnea.


Diet and Activity

No special diet is required, unless celiac disease is present. A balanced diet and regular exercise are needed to maintain appropriate weight. Feeding problems and failure to thrive usually improve after cardiac surgery.

No restriction of activities is necessary. Advise the patient to exercise to maintain an appropriate weight. Patients with symptoms of arrhythmia, episodes of fainting, abnormal findings on electrocardiography (ECG), and palpitations or chest pain should refrain from participating in sports and strenuous exercise. Children with C1-C2 subluxation should be allowed to compete in the Special Olympics unless they have symptoms of cervical-cord compression.



Consultations with the following may be indicated:

  • Clinical geneticist - Referral to a genetics counseling program is highly desirable
  • Developmental pediatrician
  • Cardiologist - Early cardiologic evaluation is crucial for diagnosing and treating congenital heart defects, which occur in up to 50% of these patients
  • Pediatric pneumonologist - Recurrent respiratory tract infections are common in patients with Down syndrome
  • Ophthalmologist [73]
  • Neurologist/neurosurgeon – As many as 10% of patients with Down syndrome have epilepsy; therefore, neurologic evaluation may be needed
  • Orthopedic specialist
  • Child psychiatrist - A child psychiatrist should lead liaison interventions, family therapies, and psychometric evaluations
  • Physical and occupational therapist
  • Speech-language pathologist
  • Audiologist

Genetic Counseling

Trisomy 21

A previous history of trisomy can increase a woman’s risk for a recurrence.[74] If the couple has a child with trisomy 21, the risk of recurrence is about 1%.[75] The risk does not appear to be increased in siblings of affected individuals if it is confirmed to not be a translocation but rather full trisomy 21.


The recurrence risk depends on the type of translocation. In most cases, the recurrence risk for de novo translocations is similar to that of the general population but may be slightly higher in some situations; it is estimated to be 2-3%.[76]

In any trisomy 21 patient with a translocation, karyotype testing must be recommended to both parents to look for a translocation. If a translocation is found in one of the parents, the recurrence risk is significantly higher, and further genetic counseling is crucial.

The theoretic recurrence risk for a Robertsonian carrier parent to have a liveborn offspring with Down syndrome is 1 in 3. However, only 10-15% of the progeny of carrier mothers and only 2-3% of the progeny of carrier fathers have Down syndrome. The reason for this difference is not clear. In a carrier parent with a 21q21q translocation or isochromosome, the recurrence risk is 100%.


Most patients with mosaic Down syndrome were once trisomy 21 zygotes. The phenotype varies and possibly reflects the variable proportion of trisomy 21 cells in the embryo during early development. In rare instances, low-level mosaicism in the germinal tissue of a parent is postulated to be the cause of having more than one trisomic child in a family. Many geneticists believe that all full trisomy 21 patients are mosaic at some level.


Affected individuals rarely reproduce. About 15-30% of females with trisomy 21 are fertile and have up to a 50% risk of having child also affected with trisomy 21. Infertility in males has been attributed to defective spermatogenesis, but ignorance of the sexual act may be one of the contributing factors.


Pharmacologic Therapy and Supportive Care

The standard immunizations and well-child care should be provided. In addition, specific manifestations of the syndrome and associated conditions must be addressed, as follows:

  • Give thyroid hormone for hypothyroidism to prevent intellectual deterioration and to improve the individual’s overall function, academic achievement, and vocational abilities
  • Give digitalis and diuretics as necessary for cardiac management
  • Provide prompt treatment of respiratory tract infections and otitis media
  • Consider pneumococcal and influenza vaccination for children with chronic cardiac and respiratory disease
  • Administer anticonvulsants for tonic-clonic seizures or for infantile spasms (treat with steroids)
  • Provide pharmacologic agents, psychotherapy, or behavioral therapy for psychiatric disorders
  • Treat skin disorders with weight reduction, proper hygiene, frequent baths, application of antibiotic ointment, or systemic antibiotic therapy
  • Prevent dental caries and periodontal disease through appropriate dental hygiene, fluoride treatments, good dietary habits, and restorative care

There are specific guidelines on when prophylaxis for subacute bacterial endocarditis is necessary and, unless there is a valve replacement or other clear reason, children with trisomy 21 are not routinely recommended to receive it.

Early intervention programs are promising. Programs for infants aged 0-3 years are designed to monitor and enrich their development by focusing on feeding, as well as gross and fine motor, language, personal, and social development. Early intervention techniques may improve the patient’s social quotient. Overall, positive developmental changes are observed in children with Down syndrome, particularly in terms of their independence, community functioning, and quality of life.

A literature review by Sugimoto et al indicated that neuromuscular training can improve strength in children and young adults with Down syndrome. The study found that such training can have a moderate to large impact on general strength, as well as a small to moderate effect on maximal strength. Only a small impact on functional mobility tasks was reported.[77]

Megadoses of vitamins and minerals supplemented with zinc or selenium have not been found beneficial in a number of well-controlled scientific studies.

Children with Down syndrome and leukemia are more sensitive to some chemotherapeutic agents (eg, methotrexate) than other children. Thus, they require careful monitoring for toxicity.


Special Considerations in Adolescents

As the patient with Down syndrome passes from infancy through childhood to adolescence, the following monitoring measures are indicated:

  • Perform annual audiologic evaluation
  • Perform annual ophthalmologic evaluations for keratoconus or corneal opacities or cataracts

Manifestations of the syndrome and associated conditions must be evaluated and addressed on an ongoing basis, as follows:

  • Treat dermatologic issues, such as folliculitis, xerosis, atopic dermatitis, seborrheic dermatitis, fungal infections of skin and nails, vitiligo, and alopecia
  • Prevent obesity by decreasing the patient’s caloric intake and increasing activity (social and leisure)
  • Screen for celiac disease (symptoms such as constipation, diarrhea, bloating, poor growth, or weight loss), and treat the patient with a gluten-free diet
  • Address any swallowing difficulties that persist through the adolescent years
  • Provide antibiotic prophylaxis during dental and surgical procedures in the presence of mitral valve prolapse
  • Consider bone marrow transplantation if leukemia occurs
  • Treat airway obstruction medically and surgically.
  • Pay special attention to perioperative modalities because of atlantoaxial instability and problems with the respiratory system
  • Screen for hypothyroidism and diabetes mellitus
  • Manage neurologic problems, including mental retardation, hypotonia, seizures, and strokes
  • Continue speech and language therapy, with a focus on expressive language and intelligibility
  • Evaluate and treat behavioral problems, such as disruptive behavior disorders, stereotypic behaviors, phobias, elimination difficulties, autism, eating problems, self-injurious behavior, and Tourette syndrome; evaluate and treat psychiatric disorders, such as depression and self-talk
  • Continue subacute bacterial endocarditis prophylaxis in adolescents with cardiac defects; during adolescence, an additional 2% of patients die of complications of congenital heart disease, infections, leukemia, and accidents
  • Repeat cervical spine radiography as needed for Special Olympics participation.

In particular, it is important to discuss issues related to the transition to adulthood:

  • Emphasize the importance of a well-balanced diet and routine exercise
  • Review plans for school placement and plans after high-school graduation and future vocational plans
  • Discuss plans for alternative long-term living arrangements (eg, community living); parents should update estate planning and custody arrangements
  • Encourage social and recreational programs with friends
  • Address concerns regarding menstrual hygiene, sexual abuse, pregnancy, and premenstrual syndrome
  • Discuss sexuality and socialization, as well as the need for supervision and degree of supervision required; review options for contraception if the teen is sexually active; make recommendations for routine gynecologic care
  • Monitor the family’s need for supportive care or counseling, respite care, and behavior management techniques; facilitate referrals for respite care and treatment of parental problems
  • Facilitate the patient’s transfer to adult health care
Contributor Information and Disclosures

Harold Chen, MD, MS, FAAP, FACMG Professor, Department of Pediatrics, Louisiana State University Medical Center

Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

Lois J Starr, MD, FAAP Assistant Professor of Pediatrics, Clinical Geneticist, Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center

Lois J Starr, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics

Disclosure: Nothing to disclose.

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.


James Bowman, MD Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago

James Bowman, MD is a member of the following medical societies: Alpha Omega Alpha, American Society for Clinical Pathology, American Society of Human Genetics, Central Society for Clinical Research, and College of American Pathologists

Disclosure: Nothing to disclose.

David Flannery, MD, FAAP, FACMG Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia

David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics and American College of Medical Genetics

Disclosure: Nothing to disclose.

Mary L Windle, PharmD, Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

  1. Karmiloff-Smith A, Al-Janabi T, D'Souza H, et al. The importance of understanding individual differences in Down syndrome. F1000Res. 2016. 5:[Medline]. [Full Text].

  2. Lejeune J. Le mongolisme. Premier example d'aberration autosomique humaine. Ann Genet. 1959. 1:41-9.

  3. Jacobs PA, Baikie AG, Court Brown WM, Strong JA. The somatic chromosomes in mongolism. Lancet. 1959 Apr 4. 1(7075):710. [Medline].

  4. Peterson MB, Mikkelsen M. Nondisjunction in trisomy 21: origin and mechanisms. Cytogenet Cell Genet. 2000. 91:199-203.

  5. Down JL. Observations on an ethnic classification of idiots. 1866. Ment Retard. 1995 Feb. 33(1):54-6. [Medline].

  6. LEJEUNE J, GAUTIER M, TURPIN R. [Study of somatic chromosomes from 9 mongoloid children]. C R Hebd Seances Acad Sci. 1959 Mar 16. 248(11):1721-2. [Medline].

  7. Levenson D. Talking about Down syndrome. Am J Med Genet A. 2009 Feb 15. 149A(4):vii-viii. [Medline].

  8. [Guideline] Hartway S. A parent's guide to the genetics of Down syndrome. Adv Neonatal Care. 2009 Feb. 9(1):27-30. [Medline].

  9. Ranweiler R. Assessment and care of the newborn with Down syndrome. Adv Neonatal Care. 2009 Feb. 9(1):17-24; Quiz 25-6. [Medline].

  10. Reeves RH, Baxter LL, Richtsmeier JT. Too much of a good thing: mechanisms of gene action in Down syndrome. Trends Genet. 2001 Feb. 17(2):83-8. [Medline].

  11. Cheon MS, Shim KS, Kim SH, Hara A, Lubec G. Protein levels of genes encoded on chromosome 21 in fetal Down syndrome brain: Challenging the gene dosage effect hypothesis (Part IV). Amino Acids. 2003 Jul. 25(1):41-7. [Medline].

  12. Romano A, Cornia R, Moraschi M, et al. Age-Related Cortical Thickness Reduction in Non-Demented Down's Syndrome Subjects. J Neuroimaging. 2015 May 21. [Medline].

  13. [Guideline] American College of Obstetricians and Gynecologists. Screening for fetal chromosomal abnormalities. National Guideline Clearinghouse. Jan 2007:[Full Text].

  14. Canfield MA, Honein MA, Yuskiv N, Xing J, Mai CT, Collins JS. National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999-2001. Birth Defects Res A Clin Mol Teratol. 2006 Nov. 76(11):747-56. [Medline].

  15. Coppus AM, Evenhuis HM, Verberne GJ, et al. Survival in elderly persons with Down syndrome. J Am Geriatr Soc. 2008 Dec. 56(12):2311-6. [Medline].

  16. [Guideline] Bull MJ. Health supervision for children with Down syndrome. Pediatrics. 2011 Aug. 128(2):393-406. [Medline]. [Full Text].

  17. [Guideline] Cohen WI, ed. Health care guidelines for individuals with Down syndrome (Down syndrome preventative medical check list). Down Syndrome Q. 1996. 1(2):1-10. [Full Text].

  18. Nieuwenhuis-Mark RE. Diagnosing Alzheimer’s dementia in Down syndrome: Problems and possible solutions. Res Dev Disabil. 2009. 30(5):827-838.

  19. Kusters MA, Verstegen RH, Gemen EF, de Vries E. Intrinsic defect of the immune system in children with Down syndrome: a review. Clin Exp Immunol. 2009 May. 156(2):189-93. [Medline]. [Full Text].

  20. Vis JC, Duffels MG, Winter MM, Weijerman ME, Cobben JM, Huisman SA. Down syndrome: a cardiovascular perspective. J Intellect Disabil Res. 2009 May. 53(5):419-25. [Medline].

  21. Lanfranchi S, Carretti B, Spanò G, Cornoldi C. A specific deficit in visuospatial simultaneous working memory in Down syndrome. J Intellect Disabil Res. 2009 May. 53(5):474-83. [Medline].

  22. Levorato MC, Roch M, Beltrame R. Text comprehension in Down syndrome: the role of lower and higher level abilities. Clin Linguist Phon. 2009 Apr. 23(4):285-300. [Medline].

  23. Salomon LJ, Bernard M, Amarsy R, Bernard JP, Ville Y. The impact of crown-rump length measurement error on combined Down syndrome screening: a simulation study. Ultrasound Obstet Gynecol. 2009 May. 33(5):506-11. [Medline].

  24. Scherbenske JM, Benson PM, Rotchford JP, James WD. Cutaneous and ocular manifestations of Down syndrome. J Am Acad Dermatol. 1990 May. 22(5 Pt 2):933-8. [Medline].

  25. Wilms A, Dummer R. [Elastosis perforans serpiginosa in Down syndrome]. Hautarzt. 1997 Dec. 48(12):923-5. [Medline].

  26. Daneshpazhooh M, Nazemi TM, Bigdeloo L, Yoosefi M. Mucocutaneous findings in 100 children with Down syndrome. Pediatr Dermatol. 2007 May-Jun. 24(3):317-20. [Medline].

  27. Masjkey D, Bhattacharya S, Dhungel S, Jha CB, Shrestha S, Ghimire SR, et al. Utility of phenotypic dermal indices in the detection of Down syndrome patients. Nepal Med Coll J. 2007 Dec. 9(4):217-21. [Medline].

  28. Popova G, Paterson WF, Brown A, Donaldson MD. Hashimoto's thyroiditis in Down's syndrome: clinical presentation and evolution. Horm Res. 2008. 70(5):278-84. [Medline].

  29. Shalitin S, Phillip M. Autoimmune thyroiditis in infants with Down’s syndrome. J Pediatr Endocrinol. 2002. 15:649-652.

  30. Idris I, O’Malley BP. Thyrotoxicosis in Down’s and Turner’s syndromes: the likelihood of Hashimoto’s thyroiditis as the underlying aetiology. Int J Clin Pract. 2000. 54:272-273.

  31. Rudberg C, Johansson H, Akerstrom G, Tuvema T, Karlsson FA. Graves’ disease in children and adolescents. Late results of surgical treatment. Eur J Endocrinol. 1996. 134:710-7.

  32. Zwaan MC, Reinhardt D, Hitzler J, Vyas P. Acute leukemias in childrenwith Down syndrome. Pediatr Clin N Am. 2008. 55:53-70.

  33. Lerner LH, Wiss K, Gellis S, Barnhill R. An unusual pustular eruption in an infant with Down syndrome and a congenital leukemoid reaction. J Am Acad Dermatol. 1996 Aug. 35(2 Pt 2):330-3. [Medline].

  34. Krivit W, Good RA. The simultaneous occurrence of leukemia and mongolism; report offour cases. AMA J Dis Child. 1956. 91:218-222.

  35. Hasle H, Clemmensen IH, Mikkelsen M. Risks of leukaemia and solid tumours in individuals with Down's syndrome. Lancet. 2000 Jan 15. 355(9199):165-9. [Medline].

  36. Hitzler JK, Zipursky A. Origins of leukaemia in children with Down syndrome. Nat Rev Cancer. 2005 Jan. 5(1):11-20. [Medline].

  37. Li Z, Godinho FJ, Klusmann JH, Garriga-Canut M, Yu C, Orkin SH. Developmental stage-selective effect of somatically mutated leukemogenic transcription factor GATA1. Nat Genet. 2005 Jun. 37(6):613-9. [Medline].

  38. Bhatt S, Schreck R, Graham JM, Korenberg JR, Hurvitz CG, Fischel-Ghodsian N. Transient leukemia with trisomy 21: description of a case and review of the literature. Am J Med Genet. 1995 Sep 25. 58(4):310-4. [Medline].

  39. Roderick JA, Bradshaw WT. Transient myeloproliferative disorder in a newborn with Down syndrome. Adv neonat Care. 2008. 8:208-218.

  40. Gamis A, Hilden J. Transient myleoproliferative disorder with too few data and many unanswered questions: does it contain an important piece of the puzzle to understanding hemataopoiesis and acute myelogenous leukemia?. J Pediatr Hematol Oncol. 2002. 24:2-5.

  41. Ma SK, Wan TS, Chan GC, Ha SY, Fung LF, Chan LC. Relationship between transient abnormal myelopoiesis and acute megakaryoblastic leukaemia in Down's syndrome. Br J Haematol. 2001 Mar. 112(3):824-5. [Medline].

  42. Magalhaes IQ, Splendore A, Emerenciano M, et al. Transient neonatal myeloproliferative disorder without Down syndrome and detection of GATA1 mutation. J Pediatr Hematol Oncol. 2005 Jan. 27(1):50-2. [Medline].

  43. Ahmed M, Sternberg A, Hall G, et al. Natural history of GATA-1 mutations in Down syndrome. Blood. 2004. 103:2480-2489.

  44. Taub J. Down syndrome and megakaryocytic leukemia/transient myeloproliferative disorder: when does it begin?. Blood. 2003. 101:4228-4300.

  45. Al Kasim F, Doyle JJ, Massey GV, et al. Incidence and treatment of potentially lethal diseasesin transient leukemia of Down syndrome: Pediatric Oncology Group Study. J Pediatr Hematol Oncol. 2002. 24:9-13.

  46. Massey GV, Zipursky A, Chang MN, Doyle JJ, Nasim S, Taub JW. A prospective study of the natural history of transient leukemia (TL) in neonates with Down syndrome (DS): Children's Oncology Group (COG) study POG-9481. Blood. 2006 Jun 15. 107(12):4606-13. [Medline].

  47. Ringman JM, Rao N, Lu PH, Cederbaum S. Mosaicism for trisomy 21 in a patient with young-onset dementia. A case report and brief literature review. Arch Neurol. 2008. 65:412-415.

  48. Papavassiliou P, York TP, Gursoy N, Hill G, Nicely LV, Sundaram U. The phenotype of persons having mosaicism for trisomy 21/Down syndrome reflects the percentage of trisomic cells present in different tissues. Am J Med Genet A. 2009 Feb 15. 149A(4):573-83. [Medline].

  49. Baum RA, Nash PL, Foster JE, Spader M, Ratliff-Schaub K, Coury DL. Primary care of children and adolescents with down syndrome: an update. Curr Probl Pediatr Adolesc Health Care. 2008 Sep. 38(8):241-61. [Medline].

  50. Rabin KR, Whitlock JA. Malignancy in children with trisomy 21. Oncologist. 2009 Feb. 14(2):164-73. [Medline]. [Full Text].

  51. Mik G, Gholve PA, Scher DM, Widmann RF, Green DW. Down syndrome: orthopedic issues. Curr Opin Pediatr. 2008 Feb. 20(1):30-6. [Medline].

  52. Rogers PT, Roizen NJ, Capone GT. Down syndrome. Capute AJ, Accardo PJ. Developmental disabilities in infancy and childhood. 2nd. 1996. 221-224.

  53. Pueschel SM, Scola FH. Atlantoaxial instability in individuals with Down Syndrome: epidemiologic, radiographic, and clinical studies. Pediatrics. 1987. 80:555-560.

  54. Myers BA, Pueschel SM. Psychiatric disorders in persons with Down syndrome. J Nerv Ment Dis. 1991 Oct. 179(10):609-13. [Medline].

  55. Miles JH. Autism spectrum disorders--a genetics review. Genet Med. 2011 Apr. 13(4):278-94. [Medline].

  56. Kent L, Evans J, Paul M, Sharp M. Comorbidity of autistic spectrum disorders in children with Down syndrome. Dev Med Child Neurol. 1999 Mar. 41(3):153-8. [Medline].

  57. Rice C. Centers for Disease Control and Prevention. Prevalence of autism spectrum disorders—autism and developmental disabilities monitoring network, 14 sites, United States,2002. MMWR CDC Surveill Summ. 2007. 56:12-28.

  58. Foley KR, Bourke J, Einfeld SL, Tonge BJ, Jacoby P, Leonard H. Patterns of depressive symptoms and social relating behaviors differ over time from other behavioral domains for young people with Down syndrome. Medicine (Baltimore). 2015 May. 94 (19):1-7. [Medline].

  59. Driscoll DA, Morgan MA, Schulkin J. Screening for Down syndrome: changing practice of obstetricians. Am J Obstet Gynecol. 2009 Apr. 200(4):459.e1-9. [Medline].

  60. Summerfield P. Prenatal screening for Down's syndrome: balanced debate needed. Lancet. 2009 Feb 28. 373(9665):722. [Medline].

  61. Fransen MP, Hajo Wildschut, Vogel I, Mackenbach J, Steegers E, Essink-Bot ML. Information about prenatal screening for Down syndrome: ethnic differences in knowledge. Patient Educ Couns. 2009 Nov. 77(2):279-88. [Medline].

  62. Dreux S, Olivier C, Dupont JM, Leporrier N, Oury JF. Maternal serum screening in cases of mosaic and translocation Down syndrome. Prenat Diagn. 2008 Aug. 28(8):699-703. [Medline].

  63. Cuckle H. Biochemical screening for Down syndrome. Eur J Obstet Gynecol Reprod Biol. 2000 Sep. 92(1):97-101. [Medline].

  64. Snijders RJ, Noble P, Sebire N, Souka A, Nicolaides KH. UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10-14 weeks of gestation. Fetal Medicine Foundation First Trimester Screening Group. Lancet. 1998 Aug 1. 352(9125):343-6. [Medline].

  65. Nicolaides KH, Spencer K, Avgidou K, Faiola S, Falcon O. Multicenter study of first-trimester screening for trisomy 21 in 75 821 pregnancies: results and estimation of the potential impact of individual risk-orientated two-stage first-trimester screening. Ultrasound Obstet Gynecol. 2005 Mar. 25(3):221-6. [Medline].

  66. Chiu RW, Akolekar R, Zheng YW, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ. 2011 Jan 11. 342:c7401. [Medline]. [Full Text].

  67. Norton ME, Brar H, Weiss J, Karimi A, Laurent LC, Caughey AB, et al. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012 Jun 1. [Medline].

  68. Barclay L. Maternal blood test may detect trisomy in first trimester‏. Medscape Medical News. June 7, 2013. Available at Accessed: July 8, 2013.

  69. Gil MM, Quezada MS, Bregant B, Ferraro M, Nicolaides KH. Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies. Ultrasound Obstet Gynecol. 2013 Jul. 42(1):34-40. [Medline].

  70. Nicolaides KH, Wright D, Poon LC, Syngelaki A, Gil MM. First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing. Ultrasound Obstet Gynecol. 2013 Jul. 42(1):41-50. [Medline].

  71. Palomaki GE, Kloza EM, Lambert-Messerlian GM, et al. DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study. Genet Med. 2011 Nov. 13(11):913-920. [Medline].

  72. Rupela V, Velleman SL, Andrianopoulos MV. Motor speech skills in children with Down syndrome: A descriptive study. Int J Speech Lang Pathol. 2016 Jan 11. 1-10. [Medline].

  73. Liyanage S, Barnes J. The eye and Down's syndrome. Br J Hosp Med (Lond). 2008 Nov. 69(11):632-4. [Medline].

  74. Warburton D, Dallaire L, Thangavelu M, Ross L, Levin B, Kline J. Trisomy recurrence: a reconsideration based on North American data. Am J Hum Genet. 2004 Sep. 75(3):376-85. [Medline].

  75. Nussbaum RL, McInnes RR, Willard HF. Thompson and Thompson genetics in medicine. 6th Revised Reprint Edition. Philadelphia: W.B. Saunders; 2004.

  76. Tolmie J. Down syndrome and other autosomal trisomies. Rimoin DL, Connor JM, Pyeritz RE, Korf BR. Emery and Rimoin’s Principles and Practice of Medical Genetics. 4th edition. 2002. 1129-1183.

  77. Sugimoto D, Bowen SL, Meehan WP 3rd, Stracciolini A. Effects of Neuromuscular Training on Children and Young Adults with Down Syndrome: Systematic Review and Meta-Analysis. Res Dev Disabil. 2016 Apr 25. 55:197-206. [Medline].

  78. Barclay L. Maternal blood test may detect trisomy in first trimester‏. Medscape Medical News, June 7, 2013. Available at Accessed: July 8, 2013.

  79. Barclay L. Maternal blood test may detect trisomy in first trimester‏. Medscape Medical News. Available at Accessed: July 8, 2013.

  80. Chen H, Woolley PV Jr. A developmental assessment chart for non-institutionalized Down syndrome children. Growth. 1978 Jun. 42(2):157-65. [Medline].

  81. Gil MM, Quezada MS, Bregant B, Ferraro M, Nicolaides KH. Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies. Ultrasound Obstet Gynecol. 2013 Jul. 42(1):34-40. [Medline].

  82. Gil MM, Quezada MS, Bregant B, Ferraro M, Nicolaides KH. Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies. Ultrasound Obstet Gynecol. 2013 Jul. 42(1):34-40. [Medline].

  83. Kagan KO, Wright D, Baker A, Sahota D, Nicolaides KH. Screening for trisomy 21 by maternal age, fetal nuchal translucency thickness, free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol. 2008 Jun. 31(6):618-24. [Medline].

  84. Nicolaides KH. Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol. 2004 Jul. 191(1):45-67. [Medline].

  85. Spencer K, Souter V, Tul N, Snijders R, Nicolaides KH. A screening program for trisomy 21 at 10-14 weeks using fetal nuchal translucency, maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol. 1999 Apr. 13(4):231-7. [Medline].

Infant with Down syndrome. Note up-slanting palpebral fissures, bilateral epicanthal folds, flat nasal bridge, open mouth with tendency for tongue protrusion, and small ear with overfolded helix.
Child with Down syndrome. Note up-slanting palpebral fissures, bilateral epicanthal folds, small nose with flat nasal bridge, open mouth with tendency for tongue protrusion, and small ears with overfolded helix.
G-banded karyotype showing trisomy 21 (47,XY,+21).
G-banded karyotype showing trisomy 21 of isochromosome arm 21q type [46,XY,i(21)(q10)].
Hand of infant with Down syndrome. Note transverse palmar crease and clinodactyly of fifth finger.
Ear of infant with Down syndrome. Note characteristic small ear with overfolded helix.
Characteristic flat facies with hypertelorism, depressed nasal bridge, and protrusion of tongue, as well as single palmar simian crease in 2-year-old girl with Down syndrome. Image courtesy of L. Dourmishev, MD, PhD, DSc.
Small auricle and anomalies of folds in patient with Down syndrome. Image courtesy of L. Dourmishev, MD, PhD, DSc.
Palmar simian crease in patient with Down syndrome. Image courtesy of L. Dourmishev, MD, PhD, DSc.
Patient with Down syndrome with protuberant abdomen and umbilical hernia. Image courtesy of L. Dourmishev, MD, PhD, DSc.
Wide gap between first and second toes and onychomycosis in patient with Down syndrome. Image courtesy of L. Dourmishev, MD, PhD, DSc.
Hypodontia in patient with Down syndrome. Image courtesy of L. Dourmishev, MD, PhD, DSc.
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