08 Crino FirstTrimesterUltrasound - IAME · Diaphragmatic Hernia 78,639 singleton, live fetuses 19 cases Gynecology and Obstetrics 1 / 4,000 NT>95thNT>95th 7 of 19 7 of 19 5 of 6

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FIRST TRIMESTER ULTRASOUND

Jude P. Crino, M.D.

Gynecology and Obstetrics

THE FIRST TRIMESTER OB SONOGRAM

• First trimester landmarks and biometry

• Assessment of viability


• Assessment of viability

• Assessment of chorionicity

• Screening for aneuploidy

• Anatomical survey

FIRST TRIMESTER LANDMARKS

• GESTATIONAL SAC– First appearance intradecidual (4 5


First appearance intradecidual (4.5 wks)

– Double decidual sac sign

– MSD increases approx 1.1 mm/d 1st 8 wks (lower limit 0.7 mm/d)

Intradecidual


Double decidualsac sign

Radiology 1997;204:655


GESTATIONAL SAC

Gynecology and ObstetricsDoubilet & Benson 2003

BIOMETRYMean sac diameter (MSD)

• Mean of A-P, transverse, and longitudinal internal chorionic sac diameters

W ll f t i l d d


• Wall of sac not included

• Accuracy– very precise at MSD ≤ 14 mm, accuracy

decreases thereafter

– not used for gestational age assessment once embryo is visualized

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BIOMETRYMean sac diameter (MSD)



• YOLK SAC


– First identifiable structure within gestational sac

– Confirms IUP

– Normal size < 6 mm diameter


• EMBRYONIC POLE– Visible by end of 5th menstrual week,

di i i b 6 3 k


cardiac activity by 6.3 wks

– First appears adjacent to yolk sac

– Growth rate approx 1 mm/d

– Crown-rump length is most accurate 1st

trimester dating method


YOLK SAC AND EMBRYONIC POLE

Gynecology and Obstetrics Doubilet & Benson 2003

FETAL BIOMETRYCrown-rump length

• Maximal embryonic / fetal length measured excluding inferior limbs


• No correction for body’s flexion

• Accuracy– 3-5 days early 1st trimester (7-9 wks)

– accuracy decreases late 1st trimester (8% of predicted age)

CROWN-RUMP LENGTH7 weeks

Gynecology and ObstetricsDoubilet & Benson 2003

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CROWN-RUMP LENGTH9 weeks

Gynecology and Obstetrics Doubilet & Benson 2003

GESTATIONAL AGE ASSESSMENTFirst trimester• Visual estimates

– gest sac, no yolk sac or embryo at 5 weeks

– gest sac, yolk sac, no embryo at 5.5 weeks

gest sac yolk sac < 5 mm embryo adjacent to


– gest sac, yolk sac, < 5 mm embryo adjacent to yolk sac at 6 menstrual weeks

• Biometry

– CRL most accurate (up to 60 mm)

– addition of other measurements (BPD, HC, AC, FL) does not improve accuracy ≤ 13 weeks


• EMBRYONIC STRUCTURES– Limb buds – 8 wks


– Mandible & maxilla – 10 wks

– Rhombencephalon – 8-10 wks

– Midgut herniation – 9-11 wks

– Falx & choroid plexus – 9-10 wks

CHORIONICITYCHORIONICITY

FIRST TRIMESTER CHORIONICITY

6-9 weeksmonochorionic dichorionic


FIRST TRIMESTER CHORIONICITY

Dividing membrane – appearance of basemonochorionic – “T” dichorionic – “twin peak” or “lambda”

10-14 weeks


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ANEUPLOIDY SCREENING AT 11-14 WEEKS


The skin is deficient in elasticity giving the appearance of being too large for the body..……. The face is flat and the nose is small.

Observations on an ethnic classification of idiots

Langdon Down 1866


Langdon Down 1828-1896

Courtesy Kypros Nicolaides, M.D.

SECOND TRIMESTER NUCHAL FOLD

FIRST TRIMESTER NUCHAL TRANSLUCENCY


NUCHAL TRANSLUCENCY

• First trimester correlate of nuchal fold


• Specific measurement technique

• Standardized training

• Quality assurance

•• Gestation 11Gestation 11--14 14 wkswks•• CrownCrown--rump length 45rump length 45--84 mm84 mm•• MidMid--sagittal viewsagittal view

Training and quality assurance in the 11Training and quality assurance in the 11--14 weeks scan14 weeks scan

Measurement of nuchal translucencyMeasurement of nuchal translucency


•• Image size: head and thoraxImage size: head and thorax•• Neutral positionNeutral position•• Away from amnionAway from amnion•• Maximum Maximum lucencylucency•• Callipers onCallipers on--toto--onon

CONVERSION OF NT TO DOWN SYNDROME RISK

• NT measurement is compared to expected normal median value for crown-rump length or gest age

• The deviation in fetal NT from the expected value is converted into a likelihood ratio


is converted into a likelihood ratio• delta value method – based upon difference in

mm from normal regressed median for CRL• MoM-Gaussian method – uses multiples of the

expected median (MoM) for gest age• Risk for trisomy 21 = a priori maternal age and

gestation-related risk X likelihood ratio

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CRL: 54 mmCRL: 54 mm

Calliper placementCalliper placement

Risk (%)

100

10

1: 1001: 100

Gynecology and ObstetricsAge (years)

30 35 40 45

1

0.1

20 25

0.01

1: 6001: 600

1: 3,7001: 3,7001.51.5 2.92.9

Which is the correct measurement?Which is the correct measurement?

100100,,000 pregnancies000 pregnancies

M th d f iM th d f i D t t dD t t dDRDR

Trisomy 21Trisomy 21N=200N=200

Screening for trisomy 21Screening for trisomy 21

Effectiveness of different methods of screeningEffectiveness of different methods of screening


Method of screeningMethod of screening DetectedDetectedDRDR

Screen Screen positive 5%positive 5%N=5,000N=5,000

Maternal age Maternal age 606030%30%

Nuchal translucency (NT) at 12 wksNuchal translucency (NT) at 12 wks 15015075%75%

Quadruple screen at 16 wksQuadruple screen at 16 wks 80%80% 160160

Fetal NT & ßFetal NT & ß--hCGhCG & PAPP& PAPP-- A at 12 wksA at 12 wks 17017085%85%


The 11The 11--14 weeks scan14 weeks scan

Screening for chromosomal defects other than trisomy 21Screening for chromosomal defects other than trisomy 21

Fetal Fetal heart rateheart rate

CrownCrown--rump rump lengthlength

Increased Increased NTNT Ultrasound markersUltrasound markersFree ßFree ß--hCGhCG PAPPPAPP--AA

Trisomy 18Trisomy 18 75%75% OmphaloceleOmphaloceleSingle umb. arterySingle umb. artery


Turner'sTurner's 87%87%

Trisomy 13Trisomy 13 72%72% MegacystisMegacystisHoloprosencephalyHoloprosencephaly

TriploidyTriploidy 59%59% Small / molar placentaSmall / molar placenta / / / /


Additional sonographic markers at 11-13+6 wks

Absent NBAbsent NBNormalTrisomy Trisomy

21216060--70%70% 2%Abnormal ductusAbnormal ductus 7070--80%80% 5%

Tricuspid regurgitationTricuspid regurgitation 70%70% 7%

Screening for trisomy 21Screening for trisomy 21


FRONTOMAXILLARY FACIAL ANGLE

Gynecology and Obstetrics AJOG 2007;196:271.e1


Increased NT Increased NT –– Normal karyotypeNormal karyotype

Gynecology and Obstetrics Courtesy Kypros Nicolaides, M.D.

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Increased NT at 11Increased NT at 11--14 wks (n=4,767)14 wks (n=4,767)

Alive and well

Major fetal abnormalities

Fetal death

ChromosomalDefects

Nuchal translucency


15%46.2%19.0%64.5%>6.5 mm

30%24.2%10.1%50.5%5.5-6.4 mm

50%18.5%3.4%33.3%4.5-5.4 mm

70%10.0%2.7%21.1%3.5-4.4 mm

93%2.5%1.3%3.7%95th-99th centiles

97%1.6%1.3%0.2%<95th centile

Snijders et al 1998; Souka et al 1998; 2001; Michailidis & Economides 2001

Achondrogenesis Achondrogenesis AchondroplasiaAchondroplasiaAsphyxiating thoracic dystrophyAsphyxiating thoracic dystrophyBlomstrand osteochondrodysplasiaBlomstrand osteochondrodysplasiaCampomelic dysplasiaCampomelic dysplasiaHypophosphatasiaHypophosphatasiaJarchoJarcho--Levin syndromeLevin syndromeNN S dS d

CraniosynostosisCraniosynostosisIniencephalyIniencephalyAgnathia/micrognathiaAgnathia/micrognathiaCardiac defectsCardiac defectsDiaphragmatic herniaDiaphragmatic herniaOmphaloceleOmphaloceleMegacystisMegacystisR l iR l i

BeckwithBeckwith--Wiedemann syndrome Wiedemann syndrome GM1GM1--gangliosidosisgangliosidosisMucopolysaccharidosis type VIIMucopolysaccharidosis type VIISmithSmith--LemliLemli--Opitz syndromeOpitz syndromeVitamin D resistant ricketsVitamin D resistant ricketsZellweger syndromeZellweger syndrome


Increased nuchal translucency with normal karyotypeIncreased nuchal translucency with normal karyotype


NanceNance--Sweeney syndromeSweeney syndromeOsteogenesis imperfectaOsteogenesis imperfectaRoberts syndromeRoberts syndromeShortShort--ribrib--polydactyly syndromepolydactyly syndromeSirenomeliaSirenomeliaThanatophoric dysplasiaThanatophoric dysplasia

Renal agenesisRenal agenesisPolycystic kidneysPolycystic kidneysMulticystic kidneysMulticystic kidneysNephrotic syndromeNephrotic syndromeBody stalk anomalyBody stalk anomalyCongenital lymphedemaCongenital lymphedema

Akinesia deformation sequenceMyotonic dystrophySpinal muscular atrophy

Blackfan Diamond anaemiaBlackfan Diamond anaemiaDyserythropoietic anaemiaDyserythropoietic anaemiaThallasemiaThallasemia--Parvovirus B19 infectionParvovirus B19 infection

BrachmannBrachmann--de Lange syndromede Lange syndromeCharge associationCharge associationdi George syndromedi George syndromeEEC syndromeEEC syndromeFryn syndromeFryn syndromeNoonan syndromeNoonan syndromePerlman syndromePerlman syndromeStickler syndromeStickler syndromeTreacherTreacher--Collins syndromeCollins syndromeTrigonocephaly C syndrome Trigonocephaly C syndrome VACTERL associationVACTERL association

Souka et al. Ultrasound Obstet Gynecol 2001;18:9-17

ANATOMICAL SURVEY AT 11-14 WEEKS


Determine gestation 30-40%

Detect multiples 2%

Diagnose miscarriage 3%

Diagnose major defects 0.5%

The 11The 11--1313+6+6 week anomaly scanweek anomaly scan


g j

Screen for trisomies 0.3%

• What are the embryological limitations?

• What abnormalities can be detected?



• What are the sonographic limitations?

• Develop a protocol for an early anatomic survey

CNS views



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Acrania / anencephaly


47 cases, prevalence 1 / 1,200 First 31 8 missed


Last 16 0 missed

In the first trimester the brain may appear normal!

Onset of ossification of the skull 11 wks

Johnson et al 1996

Acrania / anencephaly


26 cases, prevalence 1 / 3,500

Holoprosencephaly



Prevalence T1312 wks 1 : 3,500 65%20 wks 1 : ~ 7,000 40%Birth 1 : ~10,000 ?

Encephalocele

• Seen after 10 weeks• Bony defect


Encephalocele

•75% occipital


75% occipital•25% frontal or

parietal

Low risk group:Low risk group:1 in 20 0001 in 20 000

Encephalocoele

Meckel Gruber Syndrome

•• AR lethal disorder• polydactyly• echogenic kidneys


1 in 20,0001 in 20,000

High risk group:Recurrence 2/6 None missed

Polydactyly

Polycystic kidneys

Sepulveda et al 1996

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FaceFace

••ProfileProfile


••Nasal boneNasal bone

••OrbitsOrbits

FaceFace

••MaxillaMaxilla

••MandibleMandible


Bilateral cleft lip

12 w


SpineSpine

••Vertebrae: neck to pelvisVertebrae: neck to pelvis

••Skin intactSkin intact


29 cases in 61,972 singleton pregnancies

Prevalence of 1 / 2,000

None diagnosed in first trimester

Spina bifida


Increased NT in 1 of 29 cases

High risk group:Lemon sign: 3 of 3

Sebire et al 1997


Cranial signs not fully evaluated in 1Cranial signs not fully evaluated in 1stst trimestertrimester

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S1

13 w


Cannot rule out spina bifida in

lumbosacral region before 18 w

S1

S3

Lumbosacral meningocele

13 w


Sagittal Axial

13 w


Lemon sign

14 w

Chiari II malformationBanana sign & meningomyelocele


Posterior fossaPosterior fossa

12 w


Cerebellar vermis may not close over 4Cerebellar vermis may not close over 4thth

ventricle until 18 wventricle until 18 w

axial coronal

Intracranial translucency Intracranial translucency

Normal


Ultrasound Obstet Gynecol 2009;34:249

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Intracranial translucency Intracranial translucency

Spina bifida


Ultrasound Obstet Gynecol 2009;34:249

8 wks Onset of herniation

10 wks Herniation in all cases

11 wks Resolution

Physiological OmphalocelePhysiological Omphalocele

Omphalocele

The 11The 11--1313+6+6 weeks scanweeks scan

Prevalence:Prevalence: 1 / 4,000 births1 / 4,000 births

Cause:Cause: SporadicSporadic

Other defects:Other defects: Trisomies 18 &13Trisomies 18 &13

Midline defect with bowel herniation Midline defect with bowel herniation into the base of the cordinto the base of the cord


Other defects:Other defects: Trisomies 18 &13 Trisomies 18 &13 Beckwith syndromeBeckwith syndrome

Treatment: Surgical Prognosis: 80% survival

Normal cord insertion

12 w


10 w

Physiologic midgut herniation


OmphaloceleOmphalocele

Diagnosed when:

CRL > 45 mm


CRL > 45 mm

Mass > 7mm

Contains Liver/stomach

Gastroschisis

Birth prevalence 1 : 5,000


Sporadic Not associated with aneuploidy Very few diagnosed in 1st trimester

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Gastroschisis

13 w


13 w

Gastroschisis


Body Stalk Anomaly

Birth prevalence 1 : 14,000Birth prevalence 1 : 14,000Sporadic, lethalSporadic, lethal

•• Major abdominal wall defectMajor abdominal wall defect


• Early amnion rupture• Many present with increased NT

Major abdominal wall defectMajor abdominal wall defect•• Short cordShort cord•• KyphoscoliosisKyphoscoliosis

Daskalakis et al 1997

Body stalk defect /

Amniotic band syndrome



Diaphragmatic Hernia

Birth prevalence 1 : 4,000

Development completed by 9 weeksIntrathoracic herniation of abdominal


Intrathoracic herniation of abdominal viscera may occur when gut returns to abdomen at 10-12 weeks

May be delayed until 2nd or 3rd trimester

Bowel in chest, mediastinal shift, pleural effusion, polyhydramniosBowel in chest, mediastinal shift, pleural effusion, polyhydramnios

Isolated hernia 50%



Survival of isolated 50%

Isolated hernia 50%

Chromosomal defects 20%

Other abnormalities 30%

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78,639 singleton, live fetuses

19 cases19 cases


1 / 4,0001 / 4,000

NT>95thNT>95th 7 of 197 of 19

5 of 6 NND5 of 6 NND

Sebire et al 1997

Left


Right

Normal bladder


Megacystis

> 7mm


10 wks: visible in 50%

11 wks: visible in 98%

12 wks: visible in all77--15 mm15 mmn = 82n = 82

> 15 mm> 15 mmn = 26n = 26

resolution90 %obstructiveuropathy

10 %

100 %

abnormal karyotype

25 %10 %

Liao et al 2003

Normal bladder


Kidneys

Visible in all by 12 weeks May appear echogenic Look for rim of fat


Kidneys


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Renal Agenesis

Birth prevalence 1 : 4000


Absence of kidneys Absence of bladder 1st trimester - normal fluid

Multicystic dysplastic kidney

14 wk



No bladder seenIrregular mass lower anterior abdominal wall

Cloacal exstrophy


FETAL SKELETON


Femur

10 wk: Ossification centers of long bones seen 11 wk: Long bones measured with accuracy

Limb movements readily seen

Upper Limb

ExtremitiesExtremities


••4 limbs4 limbs

••MovementsMovements

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Lethal skeletal dysplasia


Hitch-hiker thumbShort femur

Diastrophic dysplasia

Club foot & polydactylyClub foot & polydactyly


Molar Placenta (1 in 2,500)



•• Complete mole / normal twin Complete mole / normal twin

•• Partial molePartial mole

•• Mesenchymal dysplasiaMesenchymal dysplasia

Molar Placenta


ExtremitiesExtremitiesBladderBladderKidneysKidneysStomachStomachAbdomenAbdomenHeartHeartSpineSpineFaceFaceHead/ Head/ B iB i

nnCRL CRL

Successful examination of fetal anatomy at 11-13+6 weeks

Transabdominal and / or transvaginal scan


100%100%99%99%88%88%99%99%100%100%50%50%99%99%99%99%100%100%1,1441,144TotalTotal

100%100%100%100%96%96%100%100%100%100%67%67%100%100%100%100%100%100%1571577575--8484

100%100%100%100%94%94%100%100%100%100%58%58%100%100%99%99%100%100%4134136565--7474

100%100%99%99%85%85%99%99%100%100%46%46%99%99%99%99%100%100%4004005555--6464

100%100%98%98%71%71%95%95%100%100%25%25%99%99%98%98%100%100%1741744545--5454

BrainBrain(mm)(mm)

Souka et al 2004

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25 (37.8%)25 (37.8%)52 (78.8%)52 (78.8%)66662,8532,853Carvalho et al, 2002Carvalho et al, 2002

7 (53.8%)7 (53.8%)10 (76.9%)10 (76.9%)13131,6321,632Economides et al, 1998Economides et al, 1998

11 (27.5%)11 (27.5%)30 (75.0%)30 (75.0%)40403,9913,991Hernandi and Torocsik, 1997Hernandi and Torocsik, 1997

1111--1313+6+6 weeks weeks TotalTotal

Prenatal diagnosisPrenatal diagnosisAnomaliesAnomaliesNNAuthorAuthor

Screening for structural defects



43 (36.1%)43 (36.1%)92 (77.3%)92 (77.3%)1191198,4768,476TotalTotal

Head

Spine

Thorax

Abdomen

Extremities

Acrania, encephalocele, holoprosencephaly, ventriculomegaly

Spina bifida, kyphoscoliosis

Lungs: CDH, CCAM, sequestration; heart defects

Omphalocele, gastroschisis, GI obstruction, renal defects

Skeletal dysplasias, amputations, arthrogryposis

What anomalies do we miss?


11-14 WEEK SONOGRAM SUGGESTED GUIDELINES

• Crown-rump length

• Heart rate

N h l t l

• Abdominal CI

• Stomach

Bl dd


• Nuchal translucency

• BPD level

• Profile

• TRV chest at heart

• TRV abdomen

• Bladder

• Sag/ coronal spine

• Four extremities

• Hands

• Feet

Documents

08 Crino FirstTrimesterUltrasound - IAME · Diaphragmatic Hernia 78,639 singleton, live fetuses 19 cases Gynecology and Obstetrics 1 / 4,000 NT>95thNT>95th 7 of 19 7 of 19 5 of 6