ppt sindrom down
DESCRIPTION
deteksi dini sindrom down, pptTRANSCRIPT
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Anamnesis
IdentitasBerapa usia saat mengandung?Apakah ada kelainan atau infeksi yang dialami saat hamil?Riwayat makan/diet?
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Apakah sebelumnya pernah melakukan diagnosis prenatal?Apakah consanguinity?Adakah riwayat keluarga yang mengidap sindrom down
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Pemeriksaan Fisik
Keadaan umumTTVPemeriksaan obsetrik
Inspeksi, palpasi, auskultasi, pemeriksaan edema
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Pemeriksaan Penunjang
Uji penapisan trisemester 1Uji penapisan trisemester 2Penapisan SonografiCVSAmniosentesisCordocentesis
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Penapisan trisemester 1
11-14 mingguhCG > 2,0 MoMProtein plasma terkait kkehamilan (PAPP-A) < 0,4 MoM
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Penapisan trisenester 2
15-20 mingguAlfafetoprotein(AFP) : 0,7 MoMHcg : 2,0 MoMEstriol tak terkonjugasi (uE3) : 8,0 MoMDeteksi trisomi 21
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Amniocentesis
Trisemester ke-1 & ke-211-14/15-20 mingguUSG sebagai penuntun20ml cairan amnionFetal loss rate 0,5% (1 dari 200)
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Diagnosis Kerja
Sindrom Down (Mongolisma)• Gangguan genetik trisomi
21/translokasi 21 ke 13-15. Kelainan kromosom paling sering terjadi.
• Dapat dideteksi sebelum atau sesudah lahirnya pasien.
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Diagnosis Banding
Hipotiroid
Trisomi 18(Edward)
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Etiologi
Trisomi kromosom 21 95%Translokasi kromosom 21 & 14/15
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Faktor resiko
Ibu > 35 tahunIbu carier Sindrom Down (translokasi)Kelainan endokrin pada ibu (tiroid/ovarium)
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Epidemiologi
Ditemukan diseluruh dunia dan semua suku bangsa1 dari 600 kelahiran hidup1 dari 1350 < 24th : 1 dari 65 41-45th
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Patofisiologi
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Gejala KlinisTubuh pendek, lengan atau kaki kadang-kadang bengkokKepala lebar, wajah membulat, mulut selalu terbuka, ujung lidah besarHidung lebar dan datar, kedua lubang hidung terpisah lebar
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jarak antara kedua mata lebar, kelopak mata memiliki lipatan epikantusKulit halus dan longgarDi leher terdapat lipatan berlebihIris mata : brushfield
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Telinga : gangguan konduktif / sensorineuralTangan dan kaki lebar dan tumpulHipotonia, simian creaseIQ 25-75Apnea obstruktif saat tidur
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Komplikasi
Defek kongenital jantung atau organ lainInfeksi, seperti pneumoniaLeukemiaAlzheimerDepresi medula spinalisInfertilitas
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Penatalaksanaan
Profilaksis endokarditisDigitalis dan diuretikVaksinisasi influenza dan pneumokokus hormon tiroidAntikonvulsan
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Non Medikamentosa
Penyuluhan kepada orang tuaDiet dan olah raga seimbangLakukan evaluasiProgram pendidikan khusus (SLB)Terapi bicara, bahasa dan fokus
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Pencegahan
Melahirkan anak <35 thJika memiliki riwayat sindrom down, segera konsultasi genetik
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Prognosis
4% hidup sampai 60 thPenyakit jantung bawaan 80% meninggal