biologi 4 - malrmsi-kng repro.2
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Biologi 4 - Malrmsi-kng Repro.2TRANSCRIPT
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MALFORMASI KONGENITAL
Prof. Dr. ENDANG PURWANINGSIH,MS, PA
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• Dlm prkmbgn embrio tdk sll sempurna • Ada kalanya trjd ktk sempurnaan cacat/ salah jadi ▼
• Kelainan s.r.s merubah bntk pmunculan-nya shg mhslkan individu/makhluk yg menakutkan spt monster
• C.I yg mpljari sgl sesuatu yg brkaitn dg monster tsb TERATOLOGI
( teratos = monster; logos = ilmu) • Kelainan tsb sdh trlht sejak lahir kelainan bawaan
(malformasi kongenetal/MK)
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• TERATOLOGI C.I Embriologi yg mmplajari prkmbngan yg abnormal & berakhir pd kelainan (MK)
▼
• Sekitar 15 % kematian neonatus disbabkan oleh MK
• ETIOLOGI (PENYEBAB) MK:
A. FAKTOR GENETIK
B. FAKTOR NON GENETIK TERATOGEN
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A. FAKTOR GENETIK
1. KELAINAN JUMLAH KROMOSOM
2. KELAINAN STRUKTUR KROMOSOM
3. KELAINAN MOSAIK
4. MUTASI GEN
A.1. KELAINAN JUMLAH KROMOSOM:
* Hipodiploid: Monosomi (2n-1) 97% letal
3 % Sind. Turner
* Hiperdiploid:
Trisomi Autosom Trisomi 21 (Sind Down)
Trisomi 13 (Sindrom Patau)
Trisomi 18 (Sindrom Edward)
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• Trisomi Kromosom Seks
47,XXX (Sind Triple X)
47,XXY (Sind Klinefilter)
47,XYY (Sind Y ganda)
• Tetrasomi & Pentasomi:
48,XXXX, 48,XXXY
49,XXXXX; 49,XXXXY makin banyak krms
X gangguan mkn berat (fisik dan mental)
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* Poliploidi : kromosom kelipatan haploid
mis : 3n=69; 4n=92 : abrts spntn
A.2 KELAINAN STRUKTUR KROMOSOM
* Translokasi conth: 46,XX atau XY, t 15/21
3-4% Sind Down translokasi
retardasi mental
* Delesi cnth: 46,XX atau XY, 5p- Cri du chat
syndrome suara khas,
microcephali, retardasi mental berat & kelainan
jantung bawaan
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* Duplikasi tdk mprlhtkn kelaianan yg nyata krn
tdk ada krms yg hilang
* Krmsm-iso bnyk trdpt pd krms X
A.3. KROMOSOM MOSAIK
malformasi lbh ringan dbdg monosomi
/trsisomi
Contoh: Sind Turner 45/X)/46,XX gangguan
lbh ringan dp 45,XO
A.4. MUTASI GEN: 10-15% dr penyebab MK
* Mengikuti Hk. Mendel dpt diramalkan pd
keturunannya
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Contoh: Mutasi gen dominan Akondroplasia Polidaktili Mutasi gen resesif * Microcephali * Hiperplasia Adrenal Kongenital
B. FAKTOR NON GENETIK * Disebutt: teratogen * Dibagi dlm bbrp kelompok I. OBAT/ZAT KIMIA
II. INFEKSI
III. RADIASI
IV. HIPOKSIA
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B.I. OBAT/ZAT KIMIA
* Alkaloid mis: Nikotin kematian fetus
Ibu perokok berat bayi lahir prematur &
berat bdn krg dr normal
* Obat antiepilepsidismorfisme wajah; cleft
palate; retardasi mental
* Obat anti-tumor malforamsi tlg dan SSP
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* Kortikosteroid cleft palate, defect jantung
* Antibiotika Tetrasiklin pd kehamilan trms 2 dan
3 defek pd gigi (hipoplasia email; warna gigi
kuning-coklat) dan distorsi pd prtmbuhan tulang
Streptomisin Pd ibu dg TBC bayi tuli
* Zat androgen mis: Progestin Maskulinisasi fetus
♀
* Air Raksa Organik:
teluk Minamata (Jepang) Ibu hamil yg mengkon
sumsi ikan bayi cerebral palsy
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* thalidomid obat tidur & anti muntah-batuk
pd ibu hamil amelia; simpodia/sireno-
melia; sindaktili
* Aminopterin obat abortivum
anencephaly; hydrocephalus
B.II. INFEKSI
* Virus Rubella (Tampek Jerman)
10-15 % bayi yg lahir dr ibu dg infeksi Rubella
pd trmst I katarak, malformasi jantung &
microcephalus
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*
Virus Cytomegalo pd trmst I microcephalus,
hydrocephalus & microopthalmia
* Toxoplasma gondii retardasi mental, tuli, fibrosis
paru & hepar
abortus
B.III. RADIASI :
* Radiasi ion teratogen potensial radiasi dosis
tinggi pd ibu hamil kelainan SSP dan tulang
* Radiasi bom atom MK
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B.IV. HIPOKSIA : * Ibu penderita kardiovaskuler dan ibu yg tinggal di dataran tinggi bayi dg brt bdn < N
MEKANISME Terjadinya MK
▲
1. Kegagalan perkembangan: * agenesis sbgian/seluruh jari tangan * agenesis ginjal * kegagalan sitogenik pd Albino 2. Perkembangan terhenti Cleft palate, atre- sia duodenum, badan kerdil (Dwarfism)
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3. Kegagalan membagi sindaktili, simpodia
4. Migrasi yg keliru Undescendens testis
Unascendens kidney
5. Perkmbgn berlebih Polidaktili; Gigantisme;
Penis ganda, Ikhtyosis
6. Trjd penggabungan/fusi & splitting
Ginjal tapal kuda
Ureter Ganda
7. Atavisme timbulnya “organ leluhur”
contoh: otot elevator pd klavikula
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PERKEMBNGN RANGKAP/DUPLIKASI
• Sel/organ memp kmpuan utk tumbuh scr utuh timbul duplikasi
• Contoh:
• KEMBAR MONOZIGOT/IDENTIK/MATERNAL
↓
Tanda khas satu plasenta dg 2 talipusat
satu khorion dg 2 amnion
dinilai normal
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• PERLEKATAN 2 JANIN / KEMBAR SIAM
Perlekatan di bag luar tubuh Perlekatan di bag dalam tubuh ↓ Di + phagus bisa brsifat Simetris dan A-Simetris Yg simetris : - Cephalophagus/Craniophagus - Sternophagus - Thoracophagus - Ileo-thoracophagus
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• Yg A-Simetris: trdpt parasit (tdk lengkap) & Autosit
- Epignatus
- Epigastrius
- Thoracoparasiticus
- Teratoma
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Kembar monozigot /normal
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Kembar Siam
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Achondroplasia dan Dismorfisme Wajah
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Sindrom Turner
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SINDROM DOWN / TRISOMI 21
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SINDROM PATAU / TRISOMI 13
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SINDROM EDWARD’S / TRISOMI 18
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Malformation Of The Human Cranium
Cranioschisis or acrania
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MICROCEPHALUS
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Malformation Of The Human Cranium
Macro or Hydrocephalus
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Anomalies Of The Human Eye And Nose
Anophtalmia
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Anomalies Of The Human Ear
Malformed auricle
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KEMBAR SIAM
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Miraculous twins
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Kembar monozigot / NORMAL
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ABORTUS
Terminasi dini kehamilan sebelum janin men-capai berat 500 gram atau kurang dari 20 mgg yang berakhir dengan kematian embrio atau fetus.
Kehamilan yang berakhir karena suatu kecelakaan atau penyebab alami dikategorikan sebagai “abortus spontan”, sedangkan kehamilan yang berakhir karena disengaja dikategorikan sebagai “abortus buatan / diinduksi”
Angka kejadian 10 – 15 %
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ETIOLOGI :
1. Kelainan pertumbuhan hasil konsepsi
- Kelainan kromosom, perubahan pada jumlah atau bentuk penyebab cukup besar : 40 – 60 %, karena kelainan jumlah kromosom
Ex : bayi dengan 45 X, 5% bisa hidup
hingga dewasa, 95 % mati dini
(abortus)
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2. Kelainan pada plasenta
3. Penyakit ibu infeksi, kelainan endokrin ,
kekurangan nutrisi
4. Kelainan traktus genitalis
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