ultrasound diagnosis of fatal anomalies

Recommendations

Info

POLYDACTYLYHeller RH, Winn KJ, Heller RM. The prenatal diagnosis ofosteogenesis imperfecta congenita. Am J ObstetGynecol 1975; 121: 572–3.Munoz C, Filly RA, Golbus MS. Osteogenesis imperfectatype II: prenatal sonographic diagnosis. Radiology1990; 174: 181–5.Ogita S, Kamei T, Matsumoto M, Shimamoto T, ShimuraK. Prenatal diagnosis of osteogenesis imperfecta congenitaby means of fetography. Eur J Pediatr 1976;123: 179–86.Pepin M, Atkinson M, Starman BJ, Byers PH. Strategiesand outcomes of prenatal diagnosis for osteogenesisimperfecta: a review of biochemical and molecularstudies completed in 129 pregnancies. Prenat Diagn1997; 17: 559–70.Sanders RC, Greyson FR, Hogge WA, Blakemore KJ,McGowan KD, Isbister S. Osteogenesis imperfectaand camptomelic dysplasia: difficulties in prenataldiagnosis. J Ultrasound Med 1994; 13: 691–700.Sharma A, George L, Erskin K. Osteogenesis imperfectain pregnancy: two case reports and review of literature[review]. Obstet Gynecol Surv 2001; 56: 563–6.Tongsong T, Wanapirak C, Siriangkul S. Prenatal diagnosisof osteogenesis imperfecta type II. Int J GynaecolObstet 1998; 61: 33–8.Viora E, Sciarrone A, Bastonero S, et al. Increased nuchaltranslucency in the first trimester as a sign of osteogenesisimperfecta. Am J Med Genet 2002; 109: 336–7.Virdi AS, Loughlin JA, Irven CM, Goodship J, Sykes BC.Mutation screening by a combination of biotin-SSCPand direct sequencing. Hum Genet 1994; 93: 287–90.PolydactylyDefinition: This is defined as extra fingers ortoes. It may be postaxial (findings on the ulna orfibula side), or preaxial (findings on the side ofradius or tibia).Incidence: Postaxial: one in 3000; in those withAfrican ancestry, one in 300. Preaxial: one in7000.Sex ratio: M:F=1.5:1.Clinical history/genetics: Postaxial forms aremostly autosomal-dominant; preaxial forms areusually unilateral and sporadic.Teratogens: Alcohol, valproic acid, diabetes mellitus.Associated malformations: Over 100 syndromeshave been described featuring polydactyly.Associated syndromes: Trisomy 13, Smith–Lemli–Opitz syndrome, hydrolethalus, Joubertsyndrome, Meckel–Gruber syndrome, orofaciodigitalsyndrome type II, Mohr syndrome,Ellis–van Creveld syndrome, hypochondroplasia,short rib–polydactyly syndrome, Carpentersyndrome, VACTERL association.Ultrasound findings: The hands and/or feetshow an extra finger or toe, which may consist ofbony parts and appear normal, or may be bent. Ifthe bony part is absent, it is difficult to diagnosethis anomaly in a prenatal scan.Fig. 8.21 Polydactyly. Isolated familial postaxialhexadactyly involving all limbs at 25 + 2 weeks. Thisfigure shows a hand. No other anomalies were found.2163
SKELETAL ANOMALIESFig. 8.22 Polydactyly. Same fetus as before.Hexadactyly of the foot is seen here.Fig. 8.23 Polydactyly. Hexadactyly in a case of otocephalyat 21+3weeks.12345Fig. 8.24 Polydactyly. Postaxial hexadactyly seen intrisomy 13 after termination of pregnancy.164
Page 4 and 5:
Ultrasound Diagnosis ofFetal Anomal
Page 6 and 7:
PrefaceSince 1979, ultrasound scree
Page 8 and 9:
CONTENTSAchondroplasia ............
Page 10 and 11:
Introduction
Page 12 and 13:
FIRST SCREENINGFor reasons of safet
Page 14 and 15:
FIRST SCREENINGFig. 1.6 First scree
Page 16 and 17:
FIRST SCREENINGFig. 1.12 First scre
Page 18 and 19:
SECOND SCREENINGview alone can easi
Page 20 and 21:
SECOND SCREENINGFig. 1.18 Second sc
Page 22 and 23:
Page 24 and 25:
Page 26 and 27:
Page 28 and 29:
Page 30:
THIRD SCREENINGTable 1.1(Continue)S
Page 33 and 34:
2 The Central Nervous Systemand the
Page 35 and 36:
THE CENTRAL NERVOUS SYSTEM AND THE
Page 37 and 38:
Page 39 and 40:
Page 41 and 42:
Page 43 and 44:
Page 45 and 46:
Page 47 and 48:
Page 49 and 50:
Page 51 and 52:
Page 53 and 54:
Page 55 and 56:
Page 57 and 58:
Page 59 and 60:
Page 61 and 62:
Page 63 and 64:
Page 65 and 66:
Page 67 and 68:
Page 69 and 70:
FACE AND NECKFig. 3.2 Cleft lip and
Page 71 and 72:
FACE AND NECKFig. 3.7 Cleft lip and
Page 73 and 74:
FACE AND NECKFig. 3.9 Hygroma colli
Page 75 and 76:
FACE AND NECKtions, literature, pho
Page 77 and 78:
FACE AND NECKFig. 3.17 Fetal goiter
Page 79 and 80:
THORAXFig. 4.1 Congenital cystic ad
Page 81 and 82:
THORAXEsophageal Atresia12345Defini
Page 83 and 84:
THORAXFig. 4.7 Primary fetal hydrot
Page 85 and 86:
THORAXReferencesBecker R, Arabin B,
Page 87 and 88:
THORAXFig. 4.15 Left-sided diaphrag
Page 89 and 90:
5 The Heart12345General Considerati
Page 91 and 92:
THE HEART12345tricle, and pulmonary
Page 93 and 94:
THE HEARTFig. 5.4 Complete atrioven
Page 95 and 96:
THE HEARTFig. 5.9 Atrioventricular
Page 97 and 98:
THE HEARTFig. 5.10 Atypical four-ch
Page 99 and 100:
THE HEARTFig. 5.11 Ebstein anomaly,
Page 101 and 102:
THE HEARTFig. 5.14 Ectopia cordis.
Page 103 and 104:
THE HEARTFig. 5.16 Tetralogy of Fal
Page 105 and 106:
THE HEART12345Associated syndromes:
Page 107 and 108:
THE HEARTFig. 5.25 Hypoplastic left
Page 109 and 110:
THE HEARToccur concomitantly. In ad
Page 111 and 112:
THE HEARTFig. 5.28 Transposition of
Page 113 and 114:
THE HEARTFig. 5.30 Ventricular sept
Page 115 and 116:
6 AbdomenAnal Atresia12345Definitio
Page 117 and 118:
ABDOMENimportant to differentiate b
Page 119 and 120:
ABDOMENNyberg DA, Resta RG, Luthy D
Page 121 and 122: ABDOMENFig. 6.4 Gastroschisis. Loop
Page 123 and 124: ABDOMEN12345tween the two condition
Page 125 and 126: ABDOMEN12345Meconium PeritonitisFig
Page 127 and 128: ABDOMENOmphaloceleDefinition: Ompha
Page 129 and 130: ABDOMENthe small-bowel loops into t
Page 131 and 132: ABDOMEN12345smaller omphaloceles, v
Page 133 and 134: UROGENITAL TRACT12345Normal male ge
Page 135 and 136: UROGENITAL TRACTFig. 7.2 Hydrocele.
Page 137 and 138: UROGENITAL TRACTFig. 7.8 Micropenis
Page 139 and 140: UROGENITAL TRACTMalini S, Valdes C,
Page 141 and 142: UROGENITAL TRACTUltrasound findings
Page 143 and 144: UROGENITAL TRACTFig. 7.16 Multicyst
Page 145 and 146: UROGENITAL TRACTFig. 7.18 Normal ki
Page 147 and 148: UROGENITAL TRACTMorse RP, Rawnsley
Page 149 and 150: UROGENITAL TRACTFig. 7.25 Ovarian c
Page 151 and 152: UROGENITAL TRACT12345Differential d
Page 153 and 154: UROGENITAL TRACTUrethral Valve Sequ
Page 155 and 156: UROGENITAL TRACTFig. 7.34 Urethral
Page 157 and 158: SKELETAL ANOMALIESPrognosis: Intrau
Page 159 and 160: SKELETAL ANOMALIESTeratogens: None
Page 161 and 162: SKELETAL ANOMALIESFig. 8.4 Arthrogr
Page 163 and 164: SKELETAL ANOMALIESFig. 8.10 Arthrog
Page 165 and 166: SKELETAL ANOMALIESFig. 8.11 Focal f
Page 167 and 168: SKELETAL ANOMALIESUltrasound findin
Page 169 and 170: SKELETAL ANOMALIES12345Type II: is
Page 171: SKELETAL ANOMALIESFig. 8.19 Osteoge
Page 175 and 176: SKELETAL ANOMALIESClinical manageme
Page 177 and 178: SKELETAL ANOMALIESShort Rib-Polydac
Page 179 and 180: SKELETAL ANOMALIESFig. 8.33 Short r
Page 181 and 182: SKELETAL ANOMALIESFig. 8.37 Thanato
Page 183 and 184: SKELETAL ANOMALIESFig. 8.43 Thanato
Page 186 and 187: ChromosomalDisorders and theirSoft
Page 188 and 189: PALLISTER-KILLIAN SYNDROMEJacobsen
Page 190 and 191: TRIPLOIDYFig. 9.1 Triploidy at 16 +
Page 192 and 193: TRIPLOIDYFig. 9.7 Triploidy. Margin
Page 194 and 195: TRISOMY 8Holzgreve W, Miny P, Holzg
Page 196 and 197: TRISOMY 13ReferencesHengstschlager
Page 198 and 199: TRISOMY 13Fig. 9.16 Trisomy 13. Bil
Page 200 and 201: TRISOMY 13Fig. 9.21 Trisomy 13. Dou
Page 202 and 203: TRISOMY 18Scope: NationalNumber of
Page 204 and 205: TRISOMY 18Fig. 9.30 Trisomy 18. Fet
Page 210 and 211: TRISOMY 18Fig. 9.46 Trisomy 18. Sam
Page 212 and 213: TRISOMY 18Fig. 9.52 Trisomy 18. Sam
Page 214 and 215: TRISOMY 21Fig. 9.56 Trisomy 21. Nuc
Page 216 and 217: TRISOMY 21Fig. 9.61Trisomy 21. AV c
Page 218 and 219: TRISOMY 21Fig. 9.67 Trisomy 21. Cro
Page 220 and 221: TURNER SYNDROMETurner SyndromeDefin
Page 222 and 223:
TURNER SYNDROMEFig. 9.74 Turner syn
Page 224 and 225:
WOLF-HIRSCHHORN SYNDROMEScope: Nati
Page 226 and 227:
WOLF-HIRSCHHORN SYNDROMEFig. 9.82 W
Page 228 and 229:
10 Soft Markers of ChromosomalAberr
Page 230 and 231:
ECHOGENIC BOWELEchogenic BowelDefin
Page 232 and 233:
ECHOGENIC KIDNEYSEchogenic KidneysD
Page 234 and 235:
MILD VENTRICULOMEGALYAssociated syn
Page 236 and 237:
SHORT FEMURNicolaides KH, Snijders
Page 238 and 239:
CHOROID PLEXUS CYSTSClinical manage
Page 240 and 241:
SINGLE UMBILICAL ARTERYHoward RJ, T
Page 242 and 243:
WHITE SPOTFig. 10.15 White spot. Th
Page 244 and 245:
Selected Syndromesand Associations
Page 246 and 247:
APERT SYNDROMEKaryotyping (differen
Page 248 and 249:
BECKWITH-WIEDEMANN SYNDROMEBeckwith
Page 250 and 251:
CHARGE ASSOCIATIONFig. 11.7 Body st
Page 252 and 253:
Cornelia de Lange Syndrome (Brachma
Page 254 and 255:
FREEMAN-SHELDON SYNDROMEOrigin/gene
Page 256 and 257:
FRYNS SYNDROMEFig. 11.9 Fryns syndr
Page 258 and 259:
HYDROLETHALUSDillon E, Renwick M, W
Page 260 and 261:
KLIPPEL-TRÉNAUNAY-WEBER SYNDROMEBa
Page 262 and 263:
LARSEN SYNDROMEMeholic AJ, Freimani
Page 264 and 265:
MECKEL-GRUBER SYNDROMEMeckel-Gruber
Page 266 and 267:
MECKEL-GRUBER SYNDROMEFig. 11.23 Me
Page 268 and 269:
MOHR SYNDROMEPrognosis: This is gen
Page 270 and 271:
MULTIPLE PTERYGIUM SYNDROMEFig. 11.
Page 272 and 273:
MURCS ASSOCIATIONalso be associated
Page 274 and 275:
NOONAN SYNDROMENeu-Laxova SyndromeD
Page 276 and 277:
PENA-SHOKEIR SYNDROMEPena-Shokeir S
Page 278 and 279:
PENA-SHOKEIR SYNDROMEFig. 11.39 Pen
Page 280 and 281:
PIERRE ROBIN SEQUENCEFig. 11.42 Pie
Page 282 and 283:
SMITH-LEMLI-OPITZ SYNDROMEShprintze
Page 284 and 285:
SMITH-LEMLI-OPITZ SYNDROMEFig. 11.4
Page 286 and 287:
THROMBOCYTOPENIA-ABSENT RADIUS (TAR
Page 288 and 289:
VACTERL ASSOCIATIONsis. Cardiac rha
Page 290 and 291:
VACTERL ASSOCIATIONFig. 11.54 VACTE
Page 292 and 293:
CYSTIC FIBROSISSelf-Help Organizati
Page 294 and 295:
Other Causes ofFetal Disease andAno
Page 296 and 297:
RHESUS INCOMPATIBILITYReferencesAlt
Page 298 and 299:
13 InfectionsCongenital SyphilisDef
Page 300 and 301:
PARVOVIRUS B19Parvovirus B19Definit
Page 302 and 303:
CYTOMEGALOVIRUS INFECTIONPratlong F
Page 304 and 305:
CYTOMEGALOVIRUS INFECTIONFig. 13.4
Page 306 and 307:
14 Placenta, Cord, and AmnioticFlui
Page 308 and 309:
CYSTS OF THE UMBILICAL CORDCysts of
Page 310 and 311:
OLIGOHYDRAMNIOSOligohydramniosDefin
Page 312 and 313:
have fatal consequences, leading to
Page 314 and 315:
DETERMINATION OF ZYGOSITYFig. 15.4
Page 316 and 317:
CONJOINED TWINSFig. 15.6 Conjoined
Page 318 and 319:
TWIN REVERSED ARTERIAL PERFUSIONmay
Page 320 and 321:
TWIN-TO-TWIN TRANSFUSION SYNDROMESc
Page 322 and 323:
TWIN-TO-TWIN TRANSFUSION SYNDROMEna
Page 324 and 325:
16 Growth DisturbanceMacrosomiaDefi
Page 326 and 327:
GROWTH DISTURBANCEsurvivors have a
Page 328 and 329:
18 DrugsAnticonvulsive DrugsSubstan
Page 330 and 331:
COCAINE AND HEROINSelf-Help Organiz
Page 332 and 333:
19 AppendixFurther ReadingBenacerra
Page 334 and 335:
III. SCREENINGTable 19.1(Continue)F
Page 336 and 337:
III. SCREENINGTable 19.1(Continue)S
Page 338 and 339:
APPENDIXCardiacfindingsThoracoabdom
Page 340 and 341:
Page 342 and 343:
Page 344 and 345:
Page 346 and 347:
Page 348 and 349:
Page 350 and 351:
Page 352 and 353:
Page 354 and 355:
Page 356 and 357:
Page 358 and 359:
APPENDIXExtremities,skeletal findin
Page 360 and 361:
APPENDIXmmmm351203095 %11010095 %25
Page 362 and 363:
APPENDIXmm60mm14555045403595 %5 %12
Page 364 and 365:
APPENDIXmm90mm7080706095 %5 %605095
Page 366 and 367:
APPENDIXmm25mm252095 %2095 %155 %15
Page 368 and 369:
APPENDIXcm40PI5,0354,5304,03,5253,0
Page 370 and 371:
APPENDIXPI3,53,02.52,01,51,00,50,02
Page 372 and 373:
INDEXesophageal atresia 72extrasyst
Page 374 and 375:
INDEXGgallbladder 8, 139gastrointes
Page 376 and 377:
INDEXtrisomy 13 188trisomy 18 194va
Page 378 and 379:
INDEXSmith-Lemli-Optitz syndrome 27
Page 380:
INDEXwhite spot 232-3Wildervancksyn
show all

ultrasound diagnosis of fatal anomalies

You also want an ePaper? Increase the reach of your titles

Delete template?

Save as template?