Facebook 
Masuk dengan Email
- Pendahuluan
- Patofisiologi
- Etiologi
- Epidemiologi
- Diagnosis
- Penatalaksanaan
- Prognosis
- Edukasi dan Promosi Kesehatan
Diagnosis Down Syndrome
Diagnosis Down syndrome dapat dilakukan ketika prenatal, saat lahir, atau selama kehidupan. Skrining prenatal Down syndrome melibatkan faktor usia ibu yang sudah lanjut, non invasive prenatal testing (NIPT), dan pemeriksaan chorionic villus sampling (CVS) atau amniosentesis. Pasien Down syndrome dapat menunjukkan bentuk wajah mongoloid, perawakan pendek, hipotonia otot, ketidakstabilan atlantoaksial, gangguan intelektual, dan hampir separuh pasien mengalami penyakit jantung bawaan.[2,5,6]
Anamnesis
Anamnesis yang ditanyakan pada orang tua/keluarga untuk mengetahui faktor risiko meliputi:
Referensi
1. Akhtar F, Bokhari SRA. Down syndrome . [Updated 2021 Dec 12]. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. https://www.ncbi.nlm.nih.gov/books/NBK526016/
2. Antonarakis SE, Skotko BG, Rafii MS, Strydom A, Pape SE, Bianchi DW, Sherman SL, Reeves RH. Down syndrome . Nat Rev Dis Primers. 2020 Feb 6;6(1):9. doi: 10.1038/s41572-019-0143-7. PMID: 32029743; PMCID: PMC8428796.
3. Mundakel GT. Down syndrome . Medscape. 2022. https://emedicine.medscape.com/article/943216-overview
5. MacLennan S. Down’s syndrome. InnovAiT, 2020. 13(1), 47–52. https://doi.org/10.1177/1755738019886612
6. Rafferty K, Archer KJ, Turner K, Brown R, Jackson-Cook C. Trisomy 21-associated increases in chromosomal instability are unmasked by comparing isogenic trisomic/disomic leukocytes from people with mosaic Down syndrome . PLoS ONE, 2021. 16(7): e0254806. https://doi.org/10.1371/journal.pone.0254806
7. CDC. Facts about Down syndrome . National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention. 2021. https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
8. Pusat Data dan Informasi Kementrian Kesehatan Republik Indonesia. Down syndrome. 2019. https://pusdatin.kemkes.go.id/resources/download/pusdatin/infodatin/infodatin-down-syndrom-2019-1.pdf
9. Wahongan C Dan Gessal J. Medical Rehabilitation In Patient With Down syndrome . Jurnal Medik dan Rehabilitasi Universitas Sam Ratulangi Manado, 2021. Vol 3, No 2. Https://Ejournal.Unsrat.Ac.Id/Index.Php/Jmr/Article/View/34440
10. Irwanto, Wicaksono H., Ariefa A., Samosir SM. A-Z Down syndrome . Airlangga University Press. 2019. https://repository.unair.ac.id/89288/3/A-Z%20Sindrom%20Down_compressed.pdf
16. Mahajan A, Sapehia D, Thakur S, et al. Effect of imbalance in folate and vitamin B12 in maternal/parental diet on global methylation and regulatory miRNAs. Sci Rep, 2019. 9, 17602. https://doi.org/10.1038/s41598-019-54070-9
17. George S, Viswanathan R, Sapkal GN. Molecular aspects of the teratogenesis of rubella virus. Biol Res, 2019. 52, 47. https://doi.org/10.1186/s40659-019-0254-3
30. Bull MJ, Trotter T, Santoro SL, Christensen C, Grout RW; COUNCIL ON GENETICS, Burke LW, Berry SA, Geleske TA, Holm I, Hopkin RJ, Introne WJ, Lyons MJ, Monteil DC, Scheuerle A, Stoler JM, Vergano SA, Chen E, Hamid R, Downs SM, Grout RW, Cunniff C, Parisi MA, Ralston SJ, Scott JA, Shapira SK, Spire P. Health Supervision for Children and Adolescents With Down syndrome . Pediatrics. 2022 May 1;149(5):e2022057010. doi: 10.1542/peds.2022-057010. PMID: 35490285.
31. Balasundaram P, Avulakunta ID. Edwards Syndrome. [Updated 2022 Mar 23]. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. https://www.ncbi.nlm.nih.gov/books/NBK570597/
32. Lal Kumar M. Trisomi 18. Medscape. 2020. https://emedicine.medscape.com/article/943463-workup#c5
33. Elumalai V, Pasrija D. Zellweger Syndrome. [Updated 2022 May 8]. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. https://www.ncbi.nlm.nih.gov/books/NBK560676/
34. Bowden SA, Goldis M. Congenital Hypothyroidism. [Updated 2022 Apr 6]. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. https://www.ncbi.nlm.nih.gov/books/NBK558913/
35. Shafi BBB. Prenatal Imaging Findings in Down syndrome . Medscape. 2019. https://emedicine.medscape.com/article/402863-overview#a3
36. Elbery SA, Shded AA, Selim KM, Sadek AM, and Ahmed AE. Role of Second-Trimester Soft Markers for Screening of Down syndrome . Benha Journal of Applied Sciences (BJAS), 2020. Vol.5 Issue2 Part 1 61-66. ISSN 2356–976x. 2020. https://bjas.journals.ekb.eg/article_135444_ee0e14f374923ba481c26e3067ad8d93.pdf
37. Arjunan SP, Thomas MC. A Review of Ultrasound Imaging Techniques for the Detection of Down syndrome . IRBM, 2020. Volume 41, Issue 2, Pages 115-123, ISSN 1959-0318. https://doi.org/10.1016/j.irbm.2019.10.004.
38. Buczyńska A, Sidorkiewicz I, Trochimiuk A, Ławicki S, Krętowski AJ, Zbucka-Krętowska M. Novel Approaches to an Integrated Route for Trisomy 21 Evaluation. Biomolecules. 2021 Sep 8;11(9):1328. doi: 10.3390/biom11091328. PMID: 34572541; PMCID: PMC8465311.
39. Pornwattanakrilert W, Sekararithi R, Wanapirak C, Sirichotiyakul S, Tongprasert F, Srisupundit K, Luewan S, Tongsong T. First-trimester serum biomarker screening for fetal Down syndrome as a predictor of preterm delivery: a population-based study. J Matern Fetal Neonatal Med. 2020 May;33(10):1717-1724. doi: 10.1080/14767058.2018.1529162. Epub 2018 Oct 29. PMID: 30371129.
40. Rabiee M, Jouhari Z, Pirasteh A. Knowledge of Prenatal Screening, Down syndrome , Amniocentesis, and Related Factors among Iranian Pregnant Women: A Cross-Sectional Study. Int J Community Based Nurs Midwifery. 2019 Apr;7(2):150-160. doi: 10.30476/IJCBNM.2019.44886. PMID: 31041325; PMCID: PMC6456766.
41. Ballantyne A, Rashid L, Pattenden R. Stability of maternal serum free β-hCG following whole blood sample transit: First trimester Down's syndrome screening in Scotland. Ann Clin Biochem. 2022 Jan;59(1):87-91. doi: 10.1177/00045632211045250. Epub 2021 Oct 18. PMID: 34657475.
42. Alfirevic Z, Navaratnam K, Mujezinovic F. Amniocentesis and chorionic villus sampling for prenatal diagnosis. Cochrane Database Syst Rev. 2017 Sep 4;9(9):CD003252. doi: 10.1002/14651858.CD003252.pub2. PMID: 28869276; PMCID: PMC6483702.
43. Peddi NC, Avanthika C, Vuppalapati S, et al. A Review of Cordocentesis: Percutaneous Umbilical Cord Blood Sampling. Cureus, 2021. 13(7), e16423. https://doi.org/10.7759/cureus.16423
44. Ozkan E, Lacerda MP. Genetics, Cytogenetic Testing And Conventional Karyotype. [Updated 2021 Aug 11]. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. https://www.ncbi.nlm.nih.gov/books/NBK563293/
45. Mesoraca A, Margiotti K, Dello Russo C, Cesta A, Cima A, Longo SA, Barone MA, Viola A, Sparacino D, Giorlandino C. Cell-free DNA screening for aneuploidies in 7113 pregnancies: single Italian centre study. Genet Res (Camb). 2020 Jun 16;102:e5. doi: 10.1017/S001667232000004X. PMID: 32539871; PMCID: PMC7303798.
46. and its correlation with prenatal indications. BMC pregnancy and childbirth, 2021. 21(1), 585. https://doi.org/10.1186/s12884-021-04044-5
47. Bhola SL, Nieuwint AWM, Stuurman KE. A prenatal case of partial trisomy 21 (q22.2q22.3), resulting from a paternal insertion translocation ins(16;21) and uncovered by QF-PCR, and characterized by array CGH and FISH. Clin Case Rep. 2018 May 29;6(7):1313-1316. doi: 10.1002/ccr3.1563. PMID: 29988599; PMCID: PMC6028365.
(Konten ini khusus untuk dokter. Registrasi untuk baca selengkapnya)
