초음파실 통계 초음파실 통계 날짜OBGYTargetAmniohystero3D통계 10/29~11/ /5~11/

OB case 박 정례 (F/29)

GA wks GA wks PNC at local OBGY. PNC at local OBGY. QUAD positive QUAD positive amnio-WNL amnio-WNL USG 에서 Ventriculomegaly, both club foot, cystic hygroma 소견있어 내원 USG 에서 Ventriculomegaly, both club foot, cystic hygroma 소견있어 내원

GA: 24w6d. GA: 24w6d. Presentation: Breech ->Cephalic 으로 변함. Presentation: Breech ->Cephalic 으로 변함. placenta: placenta: Location :anterior Location :anterior Grade : I Grade : I Head Head Cereb : 2.52cm 22w6d / CM 0.55cm Nuchal thickness : 1.2cm Cereb : 2.52cm 22w6d / CM 0.55cm Nuchal thickness : 1.2cm Facial edema : 1.0cm Facial edema : 1.0cm AFI:12.39cm AFI:12.39cm Cord : 3Vs Cord : 3Vs Face & Lip : intact Face & Lip : intact Stomach (+)/spine(+) Kidney (+/+)/bladder(+) Stomach (+)/spine(+) Kidney (+/+)/bladder(+) EFW:598gm EFW:598gm others: others: 1.Long bone : 22w2d. 1.Long bone : 22w2d. 2.Both club foot. 2.Both club foot. 3. Both arthrogryposis. ( both hands -> fixed position) 3. Both arthrogryposis. ( both hands -> fixed position) 4. low-set ear(?) 4. low-set ear(?) IMP) 1. Single pregnancy sized 23w3d. (head 23weeks/Long bone : 22weeks) IMP) 1. Single pregnancy sized 23w3d. (head 23weeks/Long bone : 22weeks) 2. Skin edema. 2. Skin edema. 3. Both Club foot. 3. Both Club foot. 4. Both Arthrogyposis. 4. Both Arthrogyposis. 5. Low-set ear(?). 5. Low-set ear(?).

rec> adm and TOP (misoprostol 2T q 6Hr.) rec> adm and TOP (misoprostol 2T q 6Hr.) still birth, M, 720g. still birth, M, 720g. ->hygroma(+) ->hygroma(+) both wrist angulation (+) both wrist angulation (+) both club foot (+) both club foot (+) 태아 기형의 원인 및 다음 임신을 위해 환자 와 보호자에게 부검 권유하였으나 비용문 제로 거부함. 태아 기형의 원인 및 다음 임신을 위해 환자 와 보호자에게 부검 권유하였으나 비용문 제로 거부함.

Infantogram

Sonographic Evaluation of Arthrogrypotic Conditions result in joint contractures, abnormal positioning of hands or feet, and other neuromuscular defects. result in joint contractures, abnormal positioning of hands or feet, and other neuromuscular defects. Abnormalities of the brain, spinal cord, peripheral nerves, muscles, or connective tissue lead to similar joint stiffness and contractures. Abnormalities of the brain, spinal cord, peripheral nerves, muscles, or connective tissue lead to similar joint stiffness and contractures. The arthrogrypotic conditions can be detected sonographically, and sonography can help differentiate between the various conditions. The arthrogrypotic conditions can be detected sonographically, and sonography can help differentiate between the various conditions. Limb abnormalities->limitation of motion,contractures, club feet,overlapping fingers, and underossification of bones Limb abnormalities->limitation of motion,contractures, club feet,overlapping fingers, and underossification of bones

limbs may not grow normally when movement is decreased ; the affected limbs may be smaller and shorter. limbs may not grow normally when movement is decreased ; the affected limbs may be smaller and shorter. Craniofacial anomalies,including hypotelorism, micrognathia, cleft palate,low-set malformed ears, and short neck are also believed to be associated with deficient neuromuscular function. Craniofacial anomalies,including hypotelorism, micrognathia, cleft palate,low-set malformed ears, and short neck are also believed to be associated with deficient neuromuscular function. Other findings ; lack of fetal movement include short umbilical cord and fetal growth retardation. Other findings ; lack of fetal movement include short umbilical cord and fetal growth retardation.

Arthrogryposis is defined as congenital, usually Arthrogryposis is defined as congenital, usually non-progressive limitation of joint movement at multiple joints. ->often occurs without findings that suggest a specific syndrome.(Non-specific arthrogryposis) three groups: ->often occurs without findings that suggest a specific syndrome.(Non-specific arthrogryposis) three groups: 1) those with primarily limb involvement, 1) those with primarily limb involvement, 2) those with limb involvement plus scoliosis, cleft palate, or other anomalies, 2) those with limb involvement plus scoliosis, cleft palate, or other anomalies, 3) those with limitation of joint movement due to severe central nervous system disturbance. -> incidence : 1 to 3 in every 10,000 births. 3) those with limitation of joint movement due to severe central nervous system disturbance. -> incidence : 1 to 3 in every 10,000 births.

Arthrogryposis, amyoplasia type is a condition with marked hypoplasia of limb muscles. Arthrogryposis, amyoplasia type is a condition with marked hypoplasia of limb muscles. -The limb positioning is characteristic, with internally rotated shoulders,fixed extended elbows, fixed flexed wrists,cupped shaped hands, and short clubbed feet. -The limb positioning is characteristic, with internally rotated shoulders,fixed extended elbows, fixed flexed wrists,cupped shaped hands, and short clubbed feet. -Two thirds of affected individuals have involvement of all four limbs. -Two thirds of affected individuals have involvement of all four limbs. -Associated anomalies include scoliosis, bowel atresia, and abdominal wall defects. -Associated anomalies include scoliosis, bowel atresia, and abdominal wall defects. -The condition is sporadic; no recurrence in families of affected individuals has been reported. -The condition is sporadic; no recurrence in families of affected individuals has been reported. -incidence ;1 in every 10,000 births. -incidence ;1 in every 10,000 births.

Arthrogryposis, distal types are a group of conditions that primarily affect the limbs. Arthrogryposis, distal types are a group of conditions that primarily affect the limbs. -type I ; extremities are affected. -type I ; extremities are affected. -> the hands form tightly clenched fists with the thumb adducted, and the fingers overlapping one another. -> the hands form tightly clenched fists with the thumb adducted, and the fingers overlapping one another. ->The feet ; club foot is common. ->The feet ; club foot is common. -In other cases(Type I I, A, B, C, D, or E ) :the hand and foot findings and contractures are associated with other anomalies, such as cleft lip, cleft palate, short neck, short stature, or scoliosis. -In other cases(Type I I, A, B, C, D, or E ) :the hand and foot findings and contractures are associated with other anomalies, such as cleft lip, cleft palate, short neck, short stature, or scoliosis.

Pena Shokeir syndrome Pena Shokeir syndrome Trisomy 18 Trisomy 18 Lethal multiple pterygium syndrome Lethal multiple pterygium syndrome Other syndromes with multiple joint contractures. Other syndromes with multiple joint contractures.

The Sonographic Examination club feet. club feet. abnormal positioning or movement of the hands and limbs. abnormal positioning or movement of the hands and limbs. the position and immobility of the limbs can only be observed at real- time examination. the position and immobility of the limbs can only be observed at real- time examination. size and shape of the chest->if pulmonary hypoplasia is present, the prognosis is poor. size and shape of the chest->if pulmonary hypoplasia is present, the prognosis is poor. If an omphalocele, radial agenesis, cystic hygroma,cardiac defect, or rocker-bottom feet -> trisomy 18 is more likely. If an omphalocele, radial agenesis, cystic hygroma,cardiac defect, or rocker-bottom feet -> trisomy 18 is more likely. spina bifida. spina bifida. If polyhydramnios is present with limb contractures,limitation of swallowing may be present. If polyhydramnios is present with limb contractures,limitation of swallowing may be present. the fetal brain is helpful to evaluate central nervous system causes of arthrogryposis. the fetal brain is helpful to evaluate central nervous system causes of arthrogryposis.