Your SlideShare is downloading. ×
Genetic sonogram
Upcoming SlideShare
Loading in...5
×

Thanks for flagging this SlideShare!

Oops! An error has occurred.

×
Saving this for later? Get the SlideShare app to save on your phone or tablet. Read anywhere, anytime – even offline.
Text the download link to your phone
Standard text messaging rates apply

Genetic sonogram

2,541

Published on

Published in: Health & Medicine
4 Comments
25 Likes
Statistics
Notes
No Downloads
Views
Total Views
2,541
On Slideshare
0
From Embeds
0
Number of Embeds
0
Actions
Shares
0
Downloads
0
Comments
4
Likes
25
Embeds 0
No embeds

Report content
Flagged as inappropriate Flag as inappropriate
Flag as inappropriate

Select your reason for flagging this presentation as inappropriate.

Cancel
No notes for slide

Transcript

  • 1. NON - INVASIVE TOOLPROVIDES A TANGIBLE & REALISTIC MODALITY PATIENTS CAN VISIBLY SEE FOR THEMSELVES COST EFFECTIVE HIGH SENSITIVITY IN DETECTING MARKERS/ANOMALIES MORE SOPHISTICATED & HIGH- RESOLUTION USG
  • 2. OBSERVATION CHROMOSOMAL ABNORMALITYHEAD TRISOMY-18,13•Strawberry skull TRIPLOIDY•Hydrocephalus•Holoprosencephaly•Choroid plexus cystFACE TRISOMY-13,18•Cleft lip/cleft palate Meckel-Gruber syndrome•Low set ears TRIPLOIDYHEART TRISOMY-13,18,21•VSD,ASD•Coarctation of aorta
  • 3. OBSERVATION CHROMOSOMAL ABNORMALITYRENAL TRISOMY-13,18,21• Horseshoe kidney TRIPLOIDY• B/L dilatation of renal pelvis• Cystic dysplasiaHANDS/FEET TRISOMY-18,13,21•Flexed overlapping fingers•Rocker bottom/club foot•Polydactyly•Wide gap b/w 1st &2nd toes(Sandal-gap)•Clinodactyly•Short femur/humerus
  • 4. OBSERVATION CHROMOSOMAL ABNORMALITYG.I SYSTEM TRISOMY-13,18Omphalocele TRISOMY-21Duodenal atresiaEchogenic bowelGENERALGrowth restriction TRISOMY-13,18,21Hydrops TRIPLOIDY;45-XO
  • 5. OBSERVATION CHROMOSOMAL ABNORMALITYPLACENTA Partial mole ANEUPLOIDYUMBILICAL CORD TRISOMY-18
  • 6. NUCHAL TRANSLUCENCY With severe LYPHANGIECTASIA → overall swelling of the fetal soft tissue ↓ Thickening of the nuchal soft tissues ↓ NUCHAL TRANSLUCENCY
  • 7. Refers to the normal subcutaneous fluid filled spacebetween the back of the fetal neck & the overlying skin.The single most powerful markeravailable today for differentiatingDS from euploid pregnancies.
  • 8. POSSIBLE CAUSES OF ↑ FLUID FILLED SPACE(NT) Cardic failure secondary to structural malformation Abnormality in the extracellular matrix Abnormal or delayed development of the lymphatic system
  • 9. CAUSES ANEUPLOIDIES SKELETAL DYSPLASIA Carnelia de Lange Achondrogenesis Noonan syndrome Ectrodactyly-ectodermal Smith-Lemli-Opitz dysplasia Joubert Multiple Pterygium Syndrome Apert Robert Syndrome Fryns CHROMOSOMAL ANOMALIES Trisomy-21 (most common) Trisomy-13,18,22 Triploidy Tetrasomy -12p
  • 10. Imaged in the mid sagittal plane, ideally with the fetal spine down. Image should be adequately magnified so that only the fetal head ,neck & upper thorax fill the viewable areaThe fetal neck should be neutral-avoid measurements in the hyperflexed/hyper extended positions The skin at the fetal back should be clearlydifferentiated from the underlying amniotic membrane
  • 11. Measurement calipers should be optimized toensure clarity of the image and of the borders of thenuchal space in particular (TVS)The width of the lucencyalone, excluding the width of the surface or occiput
  • 12. PITFALLS PRESENCE OF  An Encephalocele  Nuchal cord  An Amniotic band  A loose amnion that can be mistaken for the nuchal skin edge
  • 13. How to rectify?MAGNIFY THE IMAGEWAIT FOR SPONTANEOUS FETAL ACTIVITY→ as the fetus bounces from the amnion ,theedges can be distinguished more reliablyCOLOR DOPPLER → presence of a umbilicalcord in the vicinity of the fetal neck.
  • 14. Cut off value of 3mm as a threshold for an abnormal nuchal translucency Normal NT thickens with increasing GA Currently, the more accepted method is to base the cut off on a progressive rise >95th percentile as a threshold.MOM Vs SD: MOM-reduction in false +ve rates
  • 15. •Equal success (Braithwaite & Economides)METHOD Gestational Age Success rate TAS 10-13 WEEKS 98% to 100% TAS AT 14 WEEKS 90% TVS is needed
  • 16. 10-14weeks of GADetection rate False+ve rate Study group 77% 5% Fetal medicine foundation, London 63% 5% The SURUSS trial,UK 69% 5% The BUN trial, US 70%-64% 5% The FASTER trial, US
  • 17. Nicholaides: First trimester NT =/> 3mm Detection rate→86% of Trisomic fetus False +ve rate→4.5% Pandya (1995):NT (mm) 3 4 5 >6RISK ↑ 3 18 28 36•TRISOMIES 13,18,21•FETAL LOSS RATE =15% with NT of 5mm•↑ NT → ↑ RISK OF CONGENITAL HEART DEFECT•With Normal Karyotype & with abnormal karyotype
  • 18. Progression from an abnormal NT to anormal one→ not necessarily indicative of anomal KaryotypeSo the fetus with nuchal abnormalities →candidates for amniocentesis ,regardless ofwhether the abnormality resolvesAmong the women with advanced maternalage b/w 11-14wks GA→NT can be used todetermine which patients would benefit froman early First trimester Amniocentesis/CVS,Vs delay of the invasive testing until 16 weeksfor the safest possible procedure.
  • 19. MAJOR CARDIAC ANOMALIESDIAPHRAGMATIC HERNIAANT. ABD.WALL DEFECTFETAL AKINESIA/DYSKINESIA SYNDROMEOTHERS- Cornelia de lange,Noonan,Smith-lemli-Opitz,Joubert,Apert&FrynsSKELETALANOMALIES→Achondrogenesis,Ectrodactyly-ectodermaldysplasia,Multiple Pterygium syndrome,Robert syndrome
  • 20. Localised nuchal fluid→CYSTIC HYGROMA(CH) FETAL HYDROPS DIFFUSE EDEMA SEPTATED CH: ANEUPLOIDY EUPLOID 50% 50% 50%-MAJOR structural malformation CARDIAC x12 SKELETAL DYSPLASIA
  • 21. Presence of Septations within a nuchal swelling is ominousNon - Septate CH Septate CH98%- transient 44%-transient6%→ Abnormal 72%→ AbnormalKaryotype Karyotype Bronshtein et al.
  • 22. NO NEED TO DELAY DECISION MAKING→ while awaiting serum marker results/using computerized risk calculation algorithms IMMEDIATE OPTIONS FOR CVS IF NO FETAL ANEUPLOIDY→ A DETAILED FETAL ANATOMIC EVALUATION+ FETAL ECHOCARDIOGRAPHY AT 18-20 WEEKS
  • 23. FASTER TRIAL- >3mm NT → CVS SHOULD BE OFFEREDIMMEDIATELY,because of a minimum risk of aneuploidy of 1 in 6. NO ROLE FOR DELAYING DECISION MAKING while awaiting serum markerresults,because such additional information does not meaningfully alter the original aneuploidy risk
  • 24. GROWTH PATTERNS- CRLNASAL BONEDUCTUS VENOSUS SONOGRAPHYTRICUSPID REGURGITATIONANTERIOR ABDOMINAL WALL DEFECTSENCEPHALOCELESLIMB DEFORMITIESHEART DEFECTS
  • 25. Schemmer et al;CRL→ NOT significantly reducedwith Trisomy-21,Turner Syndrome or Sex chromosome Trisomies  → SIGNIFICANTLY reducedgrowth rates with Trisomies 13 & 18 and Triploidy
  • 26. ABSENCE OF NASAL BONE & DS Cicero et al; (N= 701 fetuses with ↑NT) ABSENCE OF NB PRESENCE OF NB 73% 0.5% (43 OF 59) (3 OF 602) NOT RELATED TO ↑ NT COULD BE COMBINED INTO A SINGLE USG SCREENING MODALITIESPREDICTED SENSITIVITY OF 85% FOR 1% FALSE +VE RATE.
  • 27.  MID SAGITTAL PLANE  FETAL PROFILE FACING UPWARD ADEQUATE MAGNIFICATION  VISUALIZATION OF TWO PARALLEL LINES AT THELEVEL OF THE FETAL NOSE→ 1. Superficial: fetal skin 2. Deeper: nasal bone  NASAL BONE- MOREECHOLUCENT AT THE DISTAL END.
  • 28. INCIDENCE OF ABSENT NASAL BONE GENERAL HIGH RISK POPULATION POPULATION 17%-29% 48%LIMITED ROLE AS A SCREENING TOOL FOR GENERAL POPULATION
  • 29. FORWARD TRIPHASIC PULSATILE FLOW→ NORMALREVERSED FLOW AT THE TIME OF ATRIAL CONTRACTION →ANEUPLOIDY/FETALCARDIAC MALFORMATIONWITH NT → ↑ THE DETECTION RATE/↓ THE FALSE +VE RATE
  • 30. PITFALLSThe ductus venosus vessel- as small as2mm at 10-14weeksVery difficult to get proper image SECONDARY SCREENING TEST IN THE HANDS OF EXPERIENCED SONOLOGIST
  • 31. CHEST WALL-ANTERIORTHE FETAL HEART SHOULDBE ISONATED PARALLEL TOTHE VENTRICULAR SEPTUMHIGH RISK PREGNANCIES AT 11-13 WEEKS Significant TR INCIDENCENORMAL FETUS 4% DS Fetus 68% TRISOMY- 18 33% SECOND LINE TEST
  • 32. AT 10-14 WEEKS Normal parameters GA(weeks) FHR (beats/min) 10 171 14 156Higher than normal rate- TRISOMY-21Lower than normal rates- TRIPLOIDY & TRISOMY-18
  • 33. SENSITIVITY ABNORHAL FHR- 26% NT- 72% MATERNAL AGE- 48%MATERNAL AGE+ NT + FHR- 83% of detection rate at 5% false +ve rate
  • 34. Authors Parameter Sensitivity False +ve rateOrlandi et al. NT alone 57% 5.8% NT + 87% 5.8% biochemistry & maternal ageNoble et al; NT + 80-85% Biochemistry & maternal age BEST DETECTION RATE IN 1ST TRIMESTER-Urine free β- hCG , beta core & Oestriol + NT
  • 35. 10-14 WEEKS NT SONOGRAPHY CYSTIC HYGROMA NO CYSTIC HYGROMA CVS SINGLETONE MULTIFETALEUPLOID ANEUPLOID GESTATION GESTATION18-20 WKS COUNCELANATOMYSCAN &FETAL ECHO
  • 36. NT + NO CYSTIC HYGROMA SINGLETONE GESTATION MULTIFETAL GESTATIONNT + SERUM MARKERS NT INTERPRETED WITHPAPP-A & β- hCG MATERNAL AGE ONLY RISK ↑ RISK ↑ RISK NOT↑ CVS EUPLOID CVS EUPLOIDANEUPLOID ANEUPLOID 18-20 WKSCOUNCEL ANATOMY SCAN & COUNCEL FETAL ECHO
  • 37. MOST COMMON SONOGRAPHIC MARKERSNUCHAL FOLD THICKENINGECHOGENIC INTRACARDIAC FOCUSSHORTENED LONG BONESHYPERECHOIC BOWELRENAL PYELECTASISCHOROID PLEXUS CYSTCLINODACTYLYHYPOPLASTIC OR ABSENT NASAL BONE
  • 38. EXCESS SOFT TISSUE IN THE POSTERIOR NECK AREAMeasurement TS OF FETAL HEAD ANGLED POSTERIORLY TO INCLUDE THECEREBELLUM & THE OCCIPITAL N T BONE OUTSIDE OF THE OCCIPITAL BONE OUTER SKIN EDGE
  • 39. THE NUCHAL SKIN FOLD MEASUREMENT THRESHOLD AUTHORS Gestational Threshold AgeGray & Crane 14-17 wks 5mm 18-20 wks 6mm Wilson < 17wks 5mm
  • 40. SENSITIVITYAUTHORS CUT OFF VALUE SENSITIVITY FALSE +VE Crane & >/= 5 mm 75% Gray Borrell & >/= 6 mm 33% 0.1%Colleagues Borrell & >/= 5mm 77.8% 2%Colleagues
  • 41. May persists throughout the 2nd trimesterOr regression may occur
  • 42. ONCE AN ABNORMAL NUCHAL SKINMEASUREMENT IS OBTAINED,THEREFORE ,ANAMNIOCENTESIS IS INDICATED, REGARDLESS OF WHETHER THE NUCHAL SKIN THICKNESS RESOLVES
  • 43. TRISOMY-21 oSHORT STATURED oSHORT FEMURS oSHORT HUMERIRATIOS OF THE MEASURED - TO - EXPECTED FL OF </= 0.91, BPD. EXPECTED FL = - 9.3105 + 0.9028 x BPD
  • 44. SENSITIVITYSTUDY SENSITIVITY FALSE +VE RATELOCKWOOD 50% 7%CALLEN 68%GRIST 50% 6.5%
  • 45. Study Parameter Sensitivity False +ve Anomalies rateBrumfield BPD: FL 40% 2.2% TRISOMY- et al; >/= 1.8 18 & 21Ginsberg -do- 53% 7% - do- et al;Ginsberg + NT 81% 7% - do- et al; NOT A HELPFUL TOOL FOR SCREENING OF DSUSEFUL IN COMBINATIONS WITH OTHER SONOGRAPHIC MARKER Eg: HUMERUS LENGTH & PYELECTASIS
  • 46. THE MEASURED- TO – EXPECTED HUMERUS LENGTH = - 7.9404 + 0.8492 x BPD < 0.90 as a cut - off STUDY METHODS SENSITIVITY FALSE +VE Callen HL 50% 6.25%Rodis et al; HL 54% FL 18% Biagiotti FL + HL ↑ ↓↓ Periti Cariati
  • 47. Nyberg et al; Short FL + HL 11 fold ↑ risk of DSJohnsons et al; FL+ HL 53% - sensitivity Foot Length 7% - false +ve rate
  • 48. An antero-posterior diameter of the renal pelvis >/=4 mm
  • 49. STUDY METHOD SENSITIVITY FALSE +VE Callen PYELECTAS 25% IS Crane & -do- 18.7% GrayCorteville , -do- 17% 2% Dicks & CraneISOLATED PYELECTASIS- ↑riskNOT SUFFICIENT TO INDICATE AMNIOCENTESISUSED IN COMBINATION WITH OTHER
  • 50. THE BOWEL IS AS ECHOGENIC AS BONE 0.6% OF ALL 2ND - TRIMESTER FETUSESBE AWARE:High frequency transducermay tend to accentuate theechogenicity of the fetalbowel in NORMAL fetus
  • 51. ↑ RISK OF IUGR PREMATURITY FETAL DEMISE POOR PERINAL OUTCOME APH CYSTIC FIBROSIS - Parental allele testing for CF carrier status is recommended  IN-UTERO CMV INFECTION
  • 52. MINERALIZATION IN THE PAPILLARY MUSCLE UNILATERAL BILATERAL
  • 53. 90% in the left ventricles When the Right ventricle or both ventriclesare involved ↑ risk of Chromosomal anomaliesFETAL STATUS EIF in Left EIF in Right / B/L Ventricle Normal 88% 12%Down Syndrome 78% 22%
  • 54. STUDY NORMAL TRISOMY- 21 TRISOMY- 13Brown,Roberts 2% 16% 39% & Miller Callen 4.7% 18%Association of EIF & Chromosomal anomalies is low in low risk patient NO AMNIOCENTESIS Not associated with cardiac anomalies in low risk patient
  • 55.  NORMAL FETUSES - 0.3% TO 3.6% 1/3RD OF FETUSES WITH TRISOMY - 18 •16-21 WEEKS → TRANSIENT•BY 23RD WEEKS → USUALLY REGRESS •25-26 WEEKS → UNCOMMON
  • 56. U/L SINGLE SMALLB/L MULTIPLE LARGE SIZE = 0.5 cm – 2cm Very large CPC → Fill almost the entire lateral ventricle & expands its walls → FALSE VENTRICULOMEGALY
  • 57. + OTHER ISOLATED CPC SONOGRAPHIC FINDINGS CONSERVATIVEINVASIVE TESTING With detailed fetal sonographic anatomic survey by experts
  • 58. EXAMINING THE UA TRANSVERSE VIEW OF A FREE RUNNING ALONGSIDE & LOOP OF CORD AROUND THE BLADDERTransverse view of the pelvis
  • 59. 17% - CYTOGENETIC ABNORMALITY TRISOMY- 18 ( Most Common ) TRISOMY- 13 TURNERS SYNDROME (45X) TRIPLOIDY Commonly seen in normal fetuses It is non-specific The most common organ systeminvolved – HEART , GI SYSTEM & CNS
  • 60. A targeted & detailed fetal ISOLATED SUA –anatomic survey should be No ↑ incidence for adone with detailed chromosomeevaluation of the heart abnormality
  • 61. ILIAC WING ANGLE ILIAC LENGTHFRONTOTHALAMIC DISTANCE (BRACHYCEPHALY) SHORTENED FRONTAL LOBE ABNORMAL FHR ABNORMALLY SHORTENED EAR LENGTH FLAT FACIES CLINODACTYLY(with hypoplasia of the middle phalanx of the fifth digit) SANDAL GAP GREAT TOE SIMIAN CREASE OF THE PALM EAR LENGTH & WIDTH
  • 62. LOW RISK NO further Testing Normal USG No markers present HIGH RISK DS risk adjustment LOW RISK NO further Testing1-ISOLATED MARKER(Except-Nuchal fold/Absent Nasal Bone Genetic Amniocentesis HIGH RISK>/=2 MARKERS/Thick LOW RISK Genetic AmniocentesisNuchal Fold/ AbsentNasal Bone/StructuralAnomaly HIGH RISK Genetic Amniocentesis
  • 63. STRUCTURAL ABNORMALITIES ANEUPLOIDY MARKERSoCardiac defects ClinodactylyoCystic hygroma EIFoVentriculomegaly/hydrocephalus Hyperechoic boweloEsophageal atresia Nuchal fold thickening/Tracheo-esophagial fistula PyelectasisoDuodenal atresia Sandal gapoOmphalocele Short long bones Wide iliac angleOTHER FINDINGS SUABrachycephaly Short ear lengthFlat facial profile Absent / hypoplasticProtruding tongue nasal boneHydropsHydrothoraxPericardial effusionUnfused amnion & chorion after 14 weeks
  • 64. STRUCTURAL ABNORMALITY Cardiac defect Cystic hygroma Diaphragmatic hernia Omphalocele Esophageal atresia+/- TOF CNS-agenesis of corpuscallosum,ventriculomegaly,hydrocephalus,large cisterna magna,Dandy-Walker Malformation,cerebellar dysgenesis,neural tube defect CRANIOFACIAL- Strawberry-shaped skull,prominent occiput,dolichocephaly,ocular anomalies,micrognathia,cleft lip/palata,small,low set ears GENITO-URINARY- Hydronephrosis,horseshoe kidney,BOO,duplication abnormality,genital abnormality
  • 65. EXTREMITY- Limb reduction abnormality,Radial aplasia,Clenched hands/Overlapping digits,Club feet,Rocker-bottom feet,Lower extremity/feet abnormality,Contracture/arthrogryposis/flexion deformity,movement disordersANEUPLOIDY MARKERS- OTHER FINDINGS-  Choroid plexus cyst IUGR,Amniotic fluidStrawberry-shaped skull abnormality,Umbilical Nuchal thickening cord cyst,Non immune hydrops Single Umbilical artery Shortened limbs
  • 66. STRUCTURAL ABNORMALITIES- Cardiac defects,Cystic hygroma,Nuchal thickening,Omphalocele CNS- Holoprosencephaly,Agenesis of corpus callosum, Ventriculomegaly,Enlarged cisterna magna,Abnormal posterior fossa,Neural tube defects CRANIO-FACIAL- Microcephaly,Micrognathia,Cleft lip/palate,Facial defects,Ocular anomalies ,Sloping forehead,Small ears EXTREMITIES- Postaxial polydactyly,Overlappingdigits,Camptodactyly,Radial aplasia,Rocker-bottom feet,Club feet UROGENITAL- Hydronephrosis,Cortical cysts,Horseshoe kidney,Echogenic kidney,Polycystic kidneys
  • 67. ANEUPLOIDY MARKERSEchogenic Intracardiac Focus Pyelectasis Single Umbilical Artery OTHER FINDINGS Microcephaly IUGR Polyhydramnios
  • 68. PASTOver the past decade & a half, AMNIOCENTESIS was reserved for woman of advanced maternal age PRESENT In the new millenium- major changes in the indications for INVASIVE GENETIC TESTING- such that advance maternal age alone will no longer be an indication FUTURE Whether a patient is at risk for fetal Aneuploidy will be based on the combination MATERNAL AGE,MULTIPLE BIOCHEMICALSERUM MARKERS & perhaps a dozen SONOGRAPHIC MARKERS + a complete USG evaluation of the fetus.

×