Diagnosis Anensefali

Oleh :

dr.Nailla Fariq Alfiani

Diagnosis anensefali atau anencephaly dapat ditegakkan saat masa kehamilan dengan pencitraan seperti ultrasonografi. Anamnesis dan pemeriksaan fisik antenatal terutama saat awal kehamilan dapat membantu deteksi dini anensefali untuk menentukan pemeriksaan penunjang yang selanjutnya diperlukan. Bila anensefali baru ditemukan saat bayi lahir, diagnosis dapat dibuat berdasarkan manifestasi klinis.[1-8,29-32]

Anamnesis

Anamnesis yang dilakukan terutama untuk menggali faktor risiko anensefali. Bila ada faktor risiko yang mengarah pada cacat kongenital, dokter dapat melakukan skrining dengan serum alfa feto protein atau mendiagnosis dengan ultrasonografi (USG).[3-8]

Referensi

1. CDC. Facts about Anencephaly. National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention. 2024. https://www.cdc.gov/ncbddd/birthdefects/anencephaly.html
2. Tomita T, Ogiwara H. Anencephaly. UpToDate. 2021. https://www.uptodate.com/contents/anencephaly?search=Anencephaly&source=search_result&selectedTitle=1~38&usage_type=default&display_rank=1
3. Best RG. Anencephaly. Medscape. 2021. https://emedicine.medscape.com/article/1181570-overview#a1
4. Tafuri SM, Lui F. Embryology, Anencephaly. StatPearls Publishing. 2023. https://www.ncbi.nlm.nih.gov/books/NBK545244/
5. Eggink A, Steegers-Theunissen R. Neural Tube Anomalies: An Update on the Pathophysiology and Prevention. In M. Kilby, A. Johnson, & D. Oepkes (Eds.), Fetal Therapy: Scientific Basis and Critical Appraisal of Clinical Benefits (pp. 449-455). Cambridge: Cambridge University Press; 2020. doi:10.1017/9781108564434.044.
6. Abebe M, Afework M, Emamu B, Teshome D. Risk Factors of Anencephaly: A Case-Control Study in Dessie Town, North East Ethiopia. Pediatric Health Med Ther. 2021;12:499-506. doi:10.2147/PHMT.S332561
7. Shilpa K, Ranganath P, Sumathi S. Anencephaly: Incidence, Risk Factors and Biochemical Analysis of Mother. IJCRR. 2018;10:20-25. doi:10.31782/IJCRR.2018.10114.
8. Wilson RD; SOGC GENETICS COMMITTEE; SPECIAL CONTRIBUTOR. Prenatal screening, diagnosis, and pregnancy management of fetal neural tube defects. J Obstet Gynaecol Can. 2014 Oct;36(10):927-939. doi:10.1016/S1701-2163(15)30444-8.
12. Munteanu O, Cîrstoiu MM, Filipoiu FM, et al. The etiopathogenic and morphological spectrum of anencephaly: a comprehensive review of literature. Romanian Journal of Morphology and Embryology. 2020;61(2):335–343. https://doi.org/10.47162/RJME.61.2.03
13. Finnell RH, Caiaffa CD, Kim SE, et al. Gene Environment Interactions in the Etiology of Neural Tube Defects. Front Genet. 2021 May 10;12:659612. doi:10.3389/fgene.2021.659612
14. Zhang Y, Liu J, Zhang L, et al. Passive Smoking During the Periconceptional Period and Risk for Neural Tube Defects in Offspring - Five Counties, Shanxi Province, China, 2010-2016. China CDC Wkly. 2021;3(37):778-782. doi:10.46234/ccdcw2021.193
15. Li ZX, Gao ZL, Wang JN, Guo QH. Maternal Coffee Consumption During Pregnancy and Neural Tube Defects in Offspring: A Meta-Analysis. Fetal Pediatr Pathol. 2016;35(1):1-9. doi: 10.3109/15513815.2015.1122121
16. Gabbay-Benziv R, Reece EA, Wang F, Yang P. Birth defects in pregestational diabetes: Defect range, glycemic threshold and pathogenesis. World J Diabetes. 2015 Apr 15;6(3):481-8. doi: 10.4239/wjd.v6.i3.481
17. Corona-Rivera JR, Olvera-Molina S, Pérez-Molina JJ, et al. Prevalence of open neural tube defects and risk factors related to isolated anencephaly and spina bifida in live births from the "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara (Jalisco, Mexico). Congenit Anom (Kyoto). 2021 Mar;61(2):46-54. doi: 10.1111/cga.12399
18. Yin H, Peng R, Chen Z, et al. WDR34 mutation from anencephaly patients impaired both SHH and PCP signaling pathways. J Hum Genet. 2020 Nov;65(11):985-993. doi: 10.1038/s10038-020-0793-z
19. Asadi S. The Role of Genetic Mutations in Gene MTHFR in Anencephaly Syndrome. Stem Cell Research Journal. 2019;3:1-5. doi: 10.23880/JES-16000117
20. Singh N, Kumble Bhat V, Tiwari A, et al. A homozygous mutation in TRIM36 causes autosomal recessive anencephaly in an Indian family. Hum Mol Genet. 2017 Mar 15;26(6):1104-1114. doi: 10.1093/hmg/ddx020
29. Kementerian Kesehatan RI. Pentingnya Pemeriksaan Kehamilan (ANC) di Fasilitas Kesehatan. 2018. https://promkes.kemkes.go.id/pentingnya-pemeriksaan-kehamilan-anc-di-fasilitas-kesehatan
30. Surya IGPS, Karkata MK, Suwardewa TGA, et al. Panduan Pelayanan Ante Natal Terfokus. Himpunan Kedokteran Fetomaternal Denpasar. 2015. http://erepo.unud.ac.id/id/eprint/10468/1/216244de6ad6eee57409d8ae10b52285.pdf
31. Widyawati W, Sulistyoningtyas S. Karakteristik Ibu Hamil Kekurangan Energi Kronik (Kek) Di Puskesmas Pajangan Bantul. Jurnal Universitas Muhammadiyah Tangerang. 2020;5:(2). http://jurnal.umt.ac.id/index.php/jkft/article/view/3925
32. Bettercare. Skills: Examination of the abdomen in pregnancy. 2022. https://bettercare.co.za/learn/maternal-care/text/01b.html#examination-of-the-uterus-and-the-fetus
33. Omoto T, Takahashi T, Fujimori K, Kin S. Prenatal diagnosis of fetal microhydranencephaly: a case report and literature review. BMC Pregnancy Childbirth. 2020;20(1):688. doi:10.1186/s12884-020-03400-1
34. Barth MB, Silveira DB, Pelizzari E, et al. Severe microhydranencephaly: differential diagnosis with anencephaly. Fetal Medicine. 2014. https://fetalmedicine.org/abstracts/2014/abstracts/182.pdf
35. Zugazaga Cortazar A, Martín Martinez C, Duran Feliubadalo C, et al. Magnetic resonance imaging in the prenatal diagnosis of neural tube defects. Insights Imaging. 2013 Apr;4(2):225-37. doi: 10.1007/s13244-013-0223-2
36. Society for Maternal-Fetal Medicine. Exencephaly-anencephaly Sequence. AJOG. 2020;223(6):B5–B8. https://doi.org/10.1016/j.ajog.2020.08.176
37. Healthwise. Alpha-Fetoprotein (AFP) Test. 2021. https://www.cham.org/HealthwiseArticle.aspx?id=hw1663
38. Wilson D. Prenatal Screening, Diagnosis, and Pregnancy Management of Fetal Neural Tube Defects. J Obstet Gynaecol Can. 2014;36(10):927–939. https://www.jogc.com/article/S1701-2163(15)30444-8/pdf

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