ultrasound diagnosis of fatal anomalies

Recommendations

Info

10 Soft Markers of ChromosomalAberrationsAbnormal Shape of the HeadDefinition: Brachycephaly: the head ratio (biparietaldiameter/frontal occipital diameter,BPD/FOD) is above the 95th percentile; for example,head ratio 0.88, depending on themethod of measurement.Incidence: As defined above, this applies toabout 5% of all fetuses.Ultrasound findings: The horizontal cross-sectionshows a round shape, with the BPD beingrelatively large compared to the FOD.Fig. 10.1 Strawberry sign, in a case of trisomy18at19+1weeks.Fig. 10.2 Brachycephaly. Rounded head at14 + 1 weeks in trisomy 13.3219
SOFT MARKERS OF CHROMOSOMAL ABERRATIONSCaution: Following some initial euphoria regardingthe use of this ratio to detect Down syndrome,large studies have since shown that thereis a normal biological variation in head size andthat potential measurement inaccuracies maylead to incorrect conclusions. The ratio hastherefore lost its importance as a soft marker fordetecting chromosomal disorders. Whenbrachycephaly is found, the examiner should bealerted to other possible malformations. Thehead ratio should not be commented on in relationto chromosomal disorders, as this maycause unnecessary anxiety for the parents.ReferencesBecker R, Brinnef C, Arabin B. Der Kopfindex—ein vernachlässigterParameter der fetalen Standardbiometrie.Ultraschall Med 1992; 13: 2–6.Borrell A, Costa D, Martinez JM, et al. Brachycephaly isineffective for detection of Down syndrome in earlymidtrimester fetuses. Early Hum Dev 1997; 4: 57–61.Buttery B. Occipitofrontal-biparietal diameter ratio: anultrasonic parameter for the antenatal evaluation ofDown’s syndrome. Med J Aust 1979; 2: 662–4.Stempfle N, Huten Y, Fredouille C, Brisse H, Nessmann C.Skeletal abnormalities in fetuses with Down’s syndrome:a radiographic post-mortem study. PediatrRadiol 1999; 29: 682–8.Dandy–Walker Variant (Open Cerebellar Vermis)Definition: A connection between the fourthventricle and the cisterna magna is a normalfinding up to 18 weeks of gestation; thereafter,this diagnosis is applicable. It is advisable to determinethe chromosome set, as an associationwith a chromosomal disorder is frequent.Detailed ultrasound screening should also becarried out to detect other malformations. Theboundary to Dandy–Walker syndrome is hazy.Caution: At 13 weeks of gestation, Dandy–Walker variant is almost always detectable, andis considered to be a normal finding up to18 weeks.Prognosis: This may be a harmless finding with agood prognosis, or may be associated with othersyndromes with a poor prognosis.12345Associated syndromes: Smith–Lemli–Opitz syndrome,Joubert syndrome, Meckel–Gruber syndrome,Neu–Laxova syndrome, Walker–Warburgsyndrome, Ellis–van Creveld syndrome,Majewski syndrome, TAR syndrome, tetrasomy12 p, triploidy, trisomy 9, trisomy 18, arthrogryposis,CHARGE association, Fryns syndrome,MURCS association.Ultrasound findings: A small, slit-like connectionis detected between the fourth ventricle and thecisterna magna, without widening of the latter.This finding distinguishes the Dandy–Walkervariant from the Dandy–Walker syndrome.False-positive as well as false-negative findingscan be produced by inaccurate ultrasound scanningin the wrong plane.ReferencesBlaicher W, Ulm B, Ulm MR, Hengstschlager M,Deutinger J, Bernaschek G. Dandy–Walker malformationas sonographic marker for fetal triploidy. UltraschallMed 2002; 23: 129–33.Bromley B, Nadel AS, Pauker S, Estroff JA, Benacerraf BR.Closure of the cerebellar vermis: evaluation withsecond trimester US. Radiology 1994; 193: 761–3.Ecker JL, Shipp TD, Bromley B, Benacerraf B. The sonographicdiagnosis of Dandy–Walker and Dandy–Walker variant: associated findings and outcomes.Prenat Diagn 2000; 20: 328–32.Laing FC, Frates MC, Brown DL, Benson CB, Di Salvo DN,Doubilet PM. Sonography of the fetal posterior fossa:false appearance of mega-cisterna magna andDandy–Walker variant. Radiology 1994; 192: 247–51.220
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 and 172:
SKELETAL ANOMALIESFig. 8.19 Osteoge
Page 173 and 174:
SKELETAL ANOMALIESFig. 8.22 Polydac
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 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?