Case Review Name : 유 O 미 Age : 32 Parity : G(3) P(2) Att.: 우리 OBGY Fami. Hx : 시부 & 부 -> DM Px.Hx : (-) Why : Triple test(Edward syn) 초음파상 omphalocele, 신장 켜져 있슴.
Sono findings *G.A: 17w1d *Sono findings -15w6d size. -stomach shadow(-) -bowel echo 증가 -both kidney echo 증가 -bladder size 증가 -Rt. Foot :pre-axial polydactyly -Rt. club foot
-Forearm 의 bone 이 하나만 보임 (both) -> radial aplasia -clenched hand(both) - 척추 끝쪽에 0.62X0.4cm sized echogenic region 이 보임 (coccyx 밖으로 bone 이 나타남 )
Progress 1. Amniocentesis : Edward syndrome 2. Termination : Still birth M 40gm ->Low-set ears, Gastroschisis, Rt.Syndactyly, Micrognathia, Club foot(both) Fixed flexion of the hands 3. Placenta Bx : 2A1V. Normal 4. Infantogram
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Edward syndrome (trisomy18) 1. Incidence : 1/3,000-6,000 (IUFD or still birth is common) 2. Laboratory : low hCG,AFP and estriol 3. Male : higher mortality sono 로 의심 될 때 karyotyping Recurrence risk : lower than the 1% for trisomy 21
4. Common findings by Ultrasound 1)Agenesis of the corpus callosum 2)Choroid plexus cysts 3)Posterior fossa abn 4)Micrognathia 5)Hypertelorism 6) Radial ray syndrome 7)Clenched hand 8)Clubbed foot 9)Rocker-bottom foot
10)Renal anomalies 11)Omphalocele 12)Diaphragmatic hernia 13)Cryptorchidism( 잠복고환증 ) 14)Heart defects 15)Single umbilical artery 16)IUGR 17)Polydramnios 18)Increased Nuchal translucency
Trisomy 21
Trisomy 18
Trisomy13