I Fetal CNS - - (central nervous system, CNS), (alpha-fetoprotein, AFP) (viability) ( 24 ) (,, ), (fetal echocardiography) (termination),,, 1 (Hydrocephalus/Ventriculomegaly) 1) (ventricular system)
2) : 012-25/1,000 3) 50%, (cerebral capillaries) 50% (foramenof Monro) 3, 3 (aqueduct of Sylvius) 4 4 (foramenof Magendie) (spinal subarachnoidspace), (foramenof Luschka) (basal cistern) (superior sagittal sinus) (arachnoidgranulation) (bloodstream) 4) LVW: HW ratio (lateral ventricular to hemispheric width ratio), atrialdiameter 1,2) Atrialdiameter 15 35 7 mm 10 mm (dangling) 5) 85% ( 15%), 30% (intracranial) 65% (extracranial) 3) 10% 4) (spina bifida, 30%) (15%) 30% 1) 6),, (hydranencephaly), alobar,, 70% 59% 5) 7),,,
, (cytomegalovirus), (syphilis), (toxoplasmosis), (rubella) (idiopathicisolated hydrocephalus) 20% (agenesis of corpus callosum), (tracheoesophagealfistula), (imperforatedanus), (ventricular septaldefect, VSD) 37 cm (cephalocentesis) (macrocrania) 2 (Agenesis of corpus callosum) 1) (corpus callosum) 3 3 2), Dandy-Walker syndrome,,,,, 3) 3 atrium (teardrop appearance) 4) 85% 15% (handicap) 10% 6) 7)
3 Dandy-Walker malformation (DWM) 1) Dandy-Walker malformation,, (cerebellar vermis), 4 DWMvariant (cerebellar dysgenesis) (vermianhypoplasia)4 8) 2) : 1/25,000-1/35,000 3) 50% (agenesis of corpus callosum) ] 50%, (,,, ) 60% 9) 4) (cisternamagna) (>10 mm), (agenesis) 4, 5) 50% (handicap) 60% 1) 6) 20,,, 10) 4 (Holoprosencephaly) 1) (forebrain, prosencephalon) (sagittal division) (midlinefacial structure) (differentiation) (proboscis, cyclopia, cebocephaly, median cleft lip/palate)
2) : 4/1,000 3) (cerebral cortex), (thalamus), (hypothalamus) alobar, semilobar, lobar 11) Alobar (lobe), (interhemispheric fissure) (brain cortex) (thalamicfusion), (cerebellum) (midbrain) (single ventricle) 4) Alobar, semilobar (midlineecho) (posterior fossa) (hypotelorism, central cleft, facial asymmetry) Lobar (frontal horn) (cavumseptum pellucidum) 5) Alobar, semilobar (amentia), lobar 1) 6) Alobar, semilobar,,, 6 12) 5 (Neural tube defects, NTD) (neural tube) 18-20 (invagination) (neural groove) 24-27 (rostralopening, anterior neuropore) (caudalneuropore) (anencephaly), (encephalocele), (spinabifida), (90%) (multifactorial) 1/500-600
2-10% 13) CDC(Center for disease control) 1 3 14 mg (folic acid) 14)15) (1) (Anencephaly) 1), (hindbrain), (vascular membrane, rea cerebrovasculosa ) (brain stem) (basal ganglia) 2) : 1/1,000 3) (cranial vault) (froglike appearance) 10-12 13 16) 4) 50% (swallowing) 5% (amniotic band syndrome) 17) 5) (fatal), (2) (Encephalocele) 1) (bony defect) (herniated sac) 2) : 1/2,000 3)
Meckelsyndrome (polycystic kidney, encephalocele, polydactyly), (80%), (7-15%), (20%),, 4) (fluid) (brain-filled sac), (septum) (occipital, 75%), (frontal, 13%), (parietalregion, 12%) (cystic hygroma), (branchial cleft cyst), (teratoma), (hemangioma) (internal septum) (hydrops) 5) 1), 2), 3) 1) 40%, 80% (pure meningocele) 50% 18,19), 40% 18) 6),,, 19) (3) (Spinabifida) 1) (neural canal) (spinabifidacystica) (spinabifidaocculta) (posterior arch) (spinal cord) (meninges), (meningocele), (nerve roots) (meningomyelocele) (dimple)
2) : 1/1,000 3) (inferior cerebellum), 4 (caudaldisplacement) (medulla) (cervical spinal canal) Arnold -Chiarimalformation type, (peripheral nerve) (clubfoot, rockerbottomfoot) 1,4) (10%) (,,,, ) 1,12) 4), (segment) ( ) (transverse scan) (posterior ossification center) V U (soft tissue) ( ), (echogenicstructure) (coronal scan) (vertebral body) (transverse view) 80%, 20 (effacement, <4 mm, banana sign) (lemon sign) 1,4,20) (sacrococcygealteratoma), (hemangioma) 5),,, (high level) 986%, 4) 6),, 14) 16-20
AFPcholinesterase, 4,21,22) 6 (Microcephaly) 1) (mental retardation) 23) 2) : 16/1,000 3), (porencephaly), (agyria),,,,, 4) (head perimeter) 3SD (standard deviation) 24) Chervenak24) 3SD (sensitive) 4SD (specific) (biparietal diameter, BPD) 5) ( 4SD ) 7 (Choroidplexus cyst) 1) : 018-25/100 2) (atrium of lateral ventricle) (level) 3) 16 21 24
25-28) trisomy 18, trisomy 21 1-15% 4) 10 mm 29) Trisomy 18, trisomy 21 (clench) 28) trisomy 18,,,, 30,31) 1, transventricular, transthalamic, transcerebellar, longitudinal (sagittal/coronal), transverse,, 3, (geneticist), (team approach) References 1) PaidasMJ, Cohen A Disorders of central nervous system SeminPerinatol1994; 18: 266 2) CardozaJD, GoldsteinRB, Filly RA Exclusion of fetal ventriculomegalywith a single measurement: The width of the lateral ventricular atrium Radiology 1988; 169: 711 3) ChervenakFA, BerkowitzRL, RomeroR, etal The diagnosocephalus Am J ObstetGynecol1983; 147: 703 4)VintzileosAM, Campbell WA, NochimsonDJ, WeinbaumPJ Antenatalevaluation and management of ultrasonically detected fetal anomalies ObstetGynecol1987; 69: 640 5) GubtaJK, Bryce FC, LilfordRJ, etal Management of apparently isolated fetal ventriculomegaly Obstet GynecolSurvey 1994; 49: 716 6)GubtaJK, LilfordRJ Assessment and management of fetal agenesisof corpus callosum PrenatDiagn1995; 15:
301 7) ParrishML, RoessmannU, LevinsohnMW Agenesisof corpus callosum: A study of the frequency of associated malformations Ann Neurol1979; 6: 349 8) Nyberg DA, PretoriusDH Cerebral malformation St Louis, Mo, MosbyYearbook, 1990 9) ChangMC, Russell SA, CallenPW, etal Sonographicdetection of inferior vermianagenesisin Dandy-Walker malformation: Prognostic implication Radiology 1994; 193: 765 10) Murray JC, Johnson JA, Bird TD Dandy -Walker malformation: Etiologicheterogeneity and empiric recurrence risks ClinGenet1985; 28: 272 11) DeMyerW Holoprosencephaly Handbook of clinical neurology, Vol 30 Edited by PJVinken, GWBruyn New York, Elsevier Biomedical, 1977, pp431-78 12) ChervenakFA, Isaacson G, HobbinsJC, et al Diagnosis and management of fetal holoprosencephaly Obstet Gynecol1985; 66: 322 13)Main DM, MennutiMT Neural tube defect: Issues in prenatal diagnosis and counseling ObstetGynecol1986; 67: 1 14) Center for Disease Control Use of folic acid for prevention of spinabifidaand other neural tube defects MMWR1991; 40: 513 15)Center for Disease Control Recommendations for the use of folic acid to reduce the number of cases of spina bifidaand other neural tube defects MMWR1992; 41: 1 16)WarsofSL, Griffin D The diagnosis of fetal anomalies Ultrasound in PerinatalCare Edited by MJBennett New York, John Wiley and Sons, 1970, pp75-102 17) HigginbottomMC, Jones KL, Hall BD, etal The amniotic band disruption complex Timing of amniotic rupture and variable spectra of consequent defects J Pediatr1979; 95: 544 18) LorberJ The prognosis of occipital encephalocele DevMedChild Neurol1971; 13: 279 19) ChervenakFA, Isaacson G, etal Diagnosis and management of fetal cephalocele ObstetGynecol1984; 64: 86 20) SabbaghaRE Diagnostic ultrasound applied to Obstetrics and Gynecology 3rded Philadelphia, JB Lippincott Company, 1994; 425 21)VintzileosAM, IngardiaCJ, NochimsonDJ Congenital hydrocephalus: A review and protocol for perinatal management ObstetGynecol1983; 62: 539 22)ChervenakFA, Duncan C, MentLR, etal Perinatalmanagement of meningomyelocele ObstetGynecol1984; 63: 376 23)Avery GB, MenesesL, etal The clinical significance of easurement microcephaly Am J DisChild 1972; 123: 214 24)ChervenakFA, JeantyPJ, CantraineF, etal Diagnosis of fetal microcephaly Am J Obstet Gynecol1984; 149: 512
25)BenacerrafBR, Harlow B, FrigolettoFO Are choroidplexus cysts an indication for second-trimester amniocentesis? Am J ObstetGynecol1990; 162: 1001 26) ChinnDH, Miller EI, Worthy LM, Towers CV Sonographicallydetected fetal choroidplexus cysts: Frequency and association with aneuploidy J Ultrasound Med1991; 10: 255 27) PerpignanoMC, Cohen HL, Klein VR, etal Fetal choroidplexus cysts: Beware the smaller cyst Radiology 1992; 182: 715 28)PlattLD, Carlson DE, MedearisAL, etal Fetal choroidplexus cysts in the second trimester: A cause for concern Am J ObstetGynecol1991; 164: 1652 29) OstleresSJ, Irving HC, LilfordRJ Fetal choroidplexus cysts: a report of 100 cases Radiology 1990; 175: 753 30) Gray DL, WinbowRC, SuessenTL, Crane JP Is genetic amniocentesis warranted when isolated choroidplexus cysts are found? PrenatDiagn1996; 16: 983 31) Sohn C, GastAS, KrapflE Isolated choroidplexus cysts: not an indication for genetic diagnosis? Fetal Diagn Ther1997; 12: 255