HLHS; Hypoplastic left heart syndrome
LV hypoplasia
RA→pulmonary artery
Epidemiology: United States statisticshttp://emedicine.medscape.com/article/890196-overview#a6
Incidence of hypoplastic left heart syndrome is 0.16-0.36 per 1000 live births.[21] It comprises 1.2-1.5% of all congenital heart defects.[22, 23] Hypoplastic left heart syndrome accounts for 7-9% of all congenital heart disease diagnosed in the first year of life.[12] The rate of occurrence is increased in patients with Turner syndrome, Noonan syndrome, Smith-Lemli-Opitz syndrome, or Holt-Oram syndrome. Certain chromosomal duplications, translocations, and deletions are also associated with hypoplastic left heart syndrome.
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Placenta previa
前置胎盤(placenta previa)是指妊娠28週後，胎盤附著於子宮下段甚至達到胎盤下緣或覆蓋子宮頸內口其位置低於胎兒先露部。
< 病因 >
子宮內膜病變或損傷: 多次刮宮術、分娩、子宮手術史。
胎盤面積過大；
胎盤異常；
受精卵滋養層發育遲緩。
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< 分類 >
根據胎盤邊緣與子宮頸內口的關係分：
< 臨床表現 >
症狀
體徵
< 鑒別診斷 >
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Mirror syndrome
56%會IUFD; intrauterine fetal demise
Mirror syndrome or triple oedema or
Ballantyne syndrome is a rare disorder affecting pregnant women. It
describes the unusual association of fetal and placental hydrops with maternal
preeclampsia.[1]
The name "mirror syndrome" refers to the similarity
between maternal oedema and fetal hydrops.
It was first described in 1892 by John William Ballantyne.
It
can be associated with twin-to-twin transfusion syndrome.
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REDV; Reversed End Diastolic Velocity
臍帶動脈血流阻力(PI)可以用來評估胎盤的功能。如果阻力增加，表示胎盤的功能可能不佳，常見於子癲前症、羊水不足、或子宮內生長受限(IUGR)的胎兒。
舒張型的波型逆轉(表示舒張期時血流逆流)，稱之為REDV
(Reversed End Diastolic Velocity)
測量臍帶動脈血流阻力並不是常規的項目，有必要才做。臍帶動脈血流阻力也不是決定是否必須提前生產的唯一參數。
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TOF; Tetralogy of Fallot
Pink TOF with PDA
15% associated syndromes: Alagille syndrome, trisomy 21, DiGeorge
Alagille syndrome
除了膽管缺少的情形外，在以下五種臨床表徵中有其中三種：
1.
膽汁鬱積
2. 心臟疾病(常見週邊肺動脈狹窄)
3. 骨骼異常(常見蝴蝶狀脊柱)
4. 眼部疾病 (常見posterior embryotoxon)
5.
特殊的外觀長相
JAG1. 88%
NOTCH2.
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Endometrial cancer, Figo stage II
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Primary tumor (T)
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TNM
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FIGO
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Surgical-Pathologic Findings
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Categories
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Stages
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TX
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Primary
tumor cannot be assessed
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T0
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No
evidence of primary tumor
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Tis
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Carcinoma
in situ (preinvasive carcinoma)
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T1
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I
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Cervical
carcinoma confined to the cervix (disregard extension to the corpus)
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T1a
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IA
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Invasive
carcinoma diagnosed only by microscopy; stromal invasion with a maximum depth
of 5.0 mm measured from the base of the epithelium and a horizontal spread of
7.0 mm or less; vascular space involvement, venous or lymphatic, does not
affect classification
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T1a1
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IA1
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Measured stromal invasion ≤ 3.0 mm in depth and ≤ 7.0 mm in horizontal
spread
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T1a2
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IA2
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Measured stromal invasion > 3.0 mm and ≤ 5.0 mm with a
horizontal spread ≤ 7.0 mm
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T1b
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IB
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Clinically
visible lesion confined to the cervix or microscopic lesion greater than
T1a/IA2
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T1b1
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IB1
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Clinically visible lesion ≤ 4.0 cm in greatest dimension
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T1b2
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IB2
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Clinically
visible lesion > 4.0 cm in greatest dimension
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T2
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II
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Cervical
carcinoma invades beyond uterus but not to pelvic wall or to lower third of
vagina
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T2a
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IIA
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Tumor
without parametrial invasion
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T2a1
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IIA1
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Clinically visible lesion ≤ 4.0 cm in greatest dimension
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T2a2
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IIA2
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Clinically
visible lesion > 4.0 cm in greatest dimension
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T2b
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IIB
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Tumor with
parametrial invasion
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T3
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III
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Tumor
extends to pelvic wall and/or involves lower third of vagina and/or causes
hydronephrosis or nonfunctional kidney
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T3a
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IIIA
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Tumor
involves lower third of vagina, no extension to pelvic wall
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T3b
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IIIB
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Tumor
extends to pelvic wall and/or causes hydronephrosis or nonfunctional kidney
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T4
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IV
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Tumor
invades mucosa of bladder or rectum and/or extends beyond true pelvis
(bullous edema is not sufficient to classify a tumor as T4)
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T4a
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IVA
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Tumor
invades mucosa of bladder or rectum (bullous edema is not sufficient to
classify a tumor as T4)
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T4b
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IVB
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Tumor
extends beyond true pelvis
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Regional lymph nodes (N)
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NX
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Regional
lymph nodes cannot be assessed
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N0
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No
regional lymph node metastasis
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N1
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Regional
lymph node metastasis
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Distant metastasis (M)
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M0
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No distant
metastasis
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M1
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Distant
metastasis (including peritoneal spread; involvement of supraclavicular,
mediastinal, or para-aortic lymph nodes; and lung, liver, or bone)
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ATHBSO optimal debulking surgery
Total abdominal hysterectomy-bilateral salpingo-oophorectomy
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PGD; Preimplantation genetic diagnosis
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Spinaocerebellar ataxia SCA
「企鵝家族」
體染色體顯性CAG
ATXN1 Gene
SCA3佔在臺灣人中所有顯性脊髓小腦萎縮症的45%。
Spasticity
Opththalmoplegia
Dystonia
Chorea
Sensory neuropathy
Fasciculation
- SCA1：第6對染色體6p23，正常人CAG重複6-36，患者39-83
- SCA2：第12對染色體（12q24.1）；正常人CAG重複16-30，患者34-49
- SCA3（MJD）：第14對染色體14q21；正常人CAG重複13-44，患者63-85
- SCA6：第19對染色體 19p13.1-13.2，正常人CAG重複4-16，患者21-27
- SCA7：第3對染色體 3p21.1-p12，正常人CAG重複7-35，患者37-130
- DRPLA：第12對染色體（12p13），正常人CAG重複6-35，患者49-88
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Dandy-Walker syndrome, DWS
Dandy-Walker
malformation (DWM) is
the most common posterior fossa malformation, characterised by the triad of:
- hypoplasia of the vermis and cephalad rotation of the vermian remnant
- cystic dilatation of the fourth ventricle extending posteriorly
- enlarged posterior fossa with torcular-lambdoid inversion (torcular lying above the level of the lambdoid due to abnormally high tentorium)
- 小腦蚓部全部或部分缺如。
- 四腦室形成巨大水囊。
- 可能有水腦症（hydrocephalus）。
- 後顱窩大，小腦膜tentorial cerebelli、側竇、及竇𠠬（torcular herophili）上抬。
Dandy-Walker氏囊雖屬小腦畸形，但確實發生的原因不明，個別病例則有染色體的異常。Dandy-Walker氏囊可由產前超音波檢查及核磁共振檢查診斷，統計上約1-4%的胎兒水腦症病例屬於Dandy-Walker氏囊。
出生後的手術治療方法包括腦室至腹腔引流管植入手術（ventriculoperitoneal
shunt）、水囊腹腔引流（cystoperitoneal
shunt）、或內視鏡手術等。無其他中樞神經系統畸形或染色體異常的Dandy-Walker氏囊病例，預後比較良好。
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Inv(9)(p12q13) most common
第九對染色體倒置對胎兒腦部沒有影響
inv(9)(p11q13)據一般文獻記載為一正常之變異，佔人口比例之1-3%,此結果對胎兒沒有影響.
