Down Syndrome Treatment & Management

  • Author: Harold Chen, MD, MS, FAAP, FACMG; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Nov 29, 2011
 

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.

Prompt surgical repair is necessary for gastrointestinal (GI) anomalies, such as tracheoesophageal fistula, pyloric stenosis, duodenal atresia, 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.[48] 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.

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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.

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Consultations

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 as many as 60% of these patients
  • Pediatric pneumonologist - Recurrent respiratory tract infections are common in patients with Down syndrome
  • Ophthalmologist[65]
  • 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
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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 mental retardation 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.

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Genetic Counseling

Trisomy 21

A previous history of trisomy can increase a woman’s risk for a recurrence.[62] If the couple has a child with trisomy 21, the risk of recurrence is about 1%.[63] The risk does not appear to be increased in siblings of affected individuals.

Translocation

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%.[64]

If the child has a translocation, a balanced translocation must be excluded in the parents. A parent with a balanced Robertsonian translocation is phenotypically normal but has an increased risk of having a chromosomally unbalanced offspring. If either parent has a translocation, start additional family studies and counseling.

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%.

Mosaicism

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.

Reproduction

Affected individuals rarely reproduce. About 15-30% of females with trisomy 21 are fertile and have a 50% risk of having an affected child. The literature contains reports of 4 pregnancies fathered by 3 male patients with Down syndrome. Infertility in males has been attributed to defective spermatogenesis, but ignorance of the sexual act may be one of the contributing factors.

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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 improve the individual’s overall function, academic achievement, and vocational abilities
  • Subacute bacterial endocarditis prophylaxis is needed in susceptible children with cardiac disease when they undergo dental work or other invasive procedures
  • 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

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.

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.

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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
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Contributor Information and Disclosures
Author

Harold Chen, MD, MS, FAAP, FACMG  Professor, Departments of Pediatrics, Obstetrics and Gynecology, and Pathology, Director of Genetic Laboratory Services, 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, American Medical Association, and American Society of Human Genetics

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

Additional Contributors

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.

References

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

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

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

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

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

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

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

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

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

  10. 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. Jul 2003;25(1):41-7. [Medline].

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

  12. 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. Nov 2006;76(11):747-56. [Medline].

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

  14. [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].

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

  16. 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. May 2009;156(2):189-93. [Medline]. [Full Text].

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

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

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

  20. 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. May 2009;33(5):506-11. [Medline].

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

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

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

  24. 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. Dec 2007;9(4):217-21. [Medline].

  25. 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].

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

  27. 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.

  28. 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.

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

  30. 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. Aug 1996;35(2 Pt 2):330-3. [Medline].

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

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

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

  34. 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. Jun 2005;37(6):613-9. [Medline].

  35. 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. Sep 25 1995;58(4):310-4. [Medline].

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

  37. 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.

  38. 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. Mar 2001;112(3):824-5. [Medline].

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

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

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

  42. 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.

  43. 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. Jun 15 2006;107(12):4606-13. [Medline].

  44. 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.

  45. 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. Feb 15 2009;149A(4):573-83. [Medline].

  46. 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. Sep 2008;38(8):241-61. [Medline].

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

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

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

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

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

  52. 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.

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

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

  55. 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. Nov 2009;77(2):279-88. [Medline].

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

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

  58. 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. Aug 1 1998;352(9125):343-6. [Medline].

  59. 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. Mar 2005;25(3):221-6. [Medline].

  60. 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. Jan 11 2011;342:c7401. [Medline]. [Full Text].

  61. 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. Nov 2011;13(11):913-920. [Medline].

  62. 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. Sep 2004;75(3):376-85. [Medline].

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

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

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

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

  67. 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. Jun 2008;31(6):618-24. [Medline].

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

  69. 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. Apr 1999;13(4):231-7. [Medline].

 
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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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