are we behind? - obstetrics and gynecology are we behind? when i slowly realized that nipt is...

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Early anomaly scansEarly anomaly scans

Ilan Timor‐TritschIlan Timor‐Tritsch

Why are we behind?

When I slowly realized that NIPT is reality:

• I started to have sleepless nights

• I feared that my an almost career long “investment” in first and early second trimester anatomy scan will go down the drain

• But then I learned more about the presumed “threat” and drew some comfort of the virtues an advantages of TVS

• I am convinced that TVS is here to stay and will undoubtedly find its well earned place in 1st trimester diagnosis alongside the NIPT

Background

• In the last decade, prenatal screening and testing have shifted from the 2nd to the 1st trimester.

• US evaluation of the fetus—a large component of fetal testing—is also applied earlier in gestation to provide information to clinicians and patients about the integrity of the pregnancy.

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Background

• The shifting of the classic, 2nd ∆ “gold standard” anatomy scan to the 1st ∆ was made possible by the introduction of high‐frequency, high resolution transvaginal transducers and by greater understanding of the early signs of fetal pathology.

• (It is effective transabdominally too!!)

TVS

TVS

TASTAS

Scanning at 13‐16 wks

• Hi frequency transducer• High resolution• Entire fetus fits into FR

• Adequate early scan• Requires a second scan

Focal range (FR)

• Lower frequency transducer• Lower resolution• Potentially less adequate early scan

• May complement TVS scan• Requires second scan

TVS

TVS

TASTAS TASTAS

2nd scan @ 20 – 23 w 1stscan @ 11‐14 (16) w

Advantages:• High resolution images• Can combine with NT scan• Potentially detects up to 80% of detectable/early anomalies• Early assessment of MFP

Alone or in combination Advantages:• Organs adequate for resolution• Potentially detects up to 95% of detectable anomalies• Better for brain, skeletal, heart, diaphragmatic etc.• Assess cervix

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Background

• We may witness another extremely possible change in the 1st ∆ prenatal diagnostic paradigm due to the introduction of the Noninvasive Prenatal Testing (NIPT) that may, over time, decrease the number of patients referred for NT screening.

• This may result in missing the opportunity to actually look at the early fetus

Background

• NOW is therefore the best time to reevaluate the value of 1st ∆ anatomy scan and, if found useful, encourage offering it to pregnant patients.

• Performing the early fetal anatomy scan would complement the new NIPT, since they are not mutually exclusive in detecting pathology.

What are the added values of TVS in the first trimester?

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Added value of the 1st ∆ US exam?

• First‐trimester ultrasound (FTUS) achieves several important goals: IT CAN

• …detect many pregnancy complications, such as placental abnormalities

• …highlight some chromosomal anomalies

• ….include a detailed fetal anatomy scan, if desired.

But wait…….. there is more!!!

An important application: emergency imaging

• 1st ∆ US can help determine the source of any 1st ∆ vaginal bleeding—specifically, it can differentiate between threatened abortion, early fetal demise, andectopic pregnancy.

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Fetal viability can be established

• High‐frequency transvaginalprobes allow earlier and more accurate diagnosis of embryonic and fetal viability, even in the 1st ∆ through the assessment of cardiac activity.

Precise dating can be established• In addition, early pregnancies can be dated accurately by sequential sonographic visualization of the gestational sac, yolk sac, embryonic pole, cardiac activity, and amniotic sac.

• Measurement of the fetal crown‐rump length (CRL) also provides landmark information that aids in dating the pregnancy and managing different aspects of the gestation.

•If the patient is obese this may be her ONLY“shot” at a good structural evaluation

Positive fact about the early anomaly scan

WEIGHT

OVERW

The obese patientThe obese patient

The obese patient

verweight patverweight pat

obeseobeseThe obese patientThe obese patient

The obese patient


The obese

THE OBESE PATIENTThe obese patientThe obese patient

patient

THE OVERWEGHT

PATIENT

THE OVERWEGHT

PATIENT

The overweight patientThe overweight patient

The overweight patient

The overweight patientThe overweight patientThe overweight patientThe overweight patient




OVERWEIGHTOVERWEIGHT

OVERWEIGHT

OVERWEIGHT OVERWEIGHTOVERWEIGHT

O V E R W E I G H TO V E R W E I G H T

OVERWEIGHT

OVERWEIGHT

OVERWEIGHT

OVERWEIGHTOVERWEIGHTWeight

WeightWeight

Weight

WEIGHT

Weight

Weight

Remember: 30‐40% women in the USA are obese

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• The addition of a 14‐16 week transabdominalanatomy scan significantly increased the rate of complete anatomy scans from 42% to 51% (P < .01). It also significantly improved visualization of the head, thorax, and abdomen and significantly increased the mean number of items seen (P < .05).

J Ultrasound Med 2014; 33:1579–1583

Important feature: Definition of MFP

• The 1st ∆ is also the best time to identify, date, and evaluate multifetalgestation in regard to chorionicity and amniocity. These variables, which are important in determining optimal management and potential outcomes, are more difficult to determine later in pregnancy.

Advanced applications include an assessment of fetal anatomy

• At the time of NT assessment, 1st∆ US can be broadened to evaluate the age‐related anatomy of fetal organs and organ systems.

• At 12 weeks, approximately 40% to 50% of common, US discernible anomalies are already present.

•Timor‐TritschI,FuchsK,MonteagudoA,D’altonME.Performingafetalanatomyscanatthetimeoffirst‐trimesterscreening.ObstetGyncol.2009;113(2Pt1):402–407.

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Don’t forget the cervix and the adnexae

• It is important to evaluate the cervix in the 1st∆ , keeping the risk of preterm delivery in mind, as well as the maternal uterus and adnexae(looking for pathology) and the placenta (looking for abnormalities).

Best time for aneuploidy screening

• 1st ∆ US and biochemical testing can be used for aneuploidy screening between 11 and 13‐6/7 weeks.

• Sonographic measurement of the nuchal translucency (NT)—is used to determine the likelihood that the fetus is aneuploid Trisomy 21.


• NT measurement alone has sensitivity of 64% to 70% for the detection of Trisomy 21, as well as a false‐positive rate of 5%.

• When NT assessment is combined with the measurement of maternal serum pregnancy‐associated plasma protein A and free serum hCG, sensitivity increases to 82% to 87%.

• When maternal age is factored into the equation, sensitivity may exceed 90%.

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• Assessment of the:

• nasal bones ,

• ductus venous flow,

• tricuspid regurgitation,

• and hepatic artery flow

in combination with NT measurement can also improve sensitivity in the detection of Trisomy 21

•NicolaidesKH.Screeningforfetalaneuploidiesat11to13weeks.PrenatDiagn.2011;31(1):7–15.

•Nicolaides KH.Screeningforfetalaneuploidies at11to13weeks.Prenat Diagn.2011;31(1):7–15.



• NT measurement alone has sensitivity of 64% to 70% for the detection of Trisomy 21, as well as a false‐positive rate of 5%.

• When NT assessment is combined with the measurement of maternal serum pregnancy‐associated plasma protein A and free serum hCG, sensitivity increases to 82% to 87%.

• When maternal age is factored into the equation, sensitivity may exceed 90%.

Lately, there is a new threat to the Ob/Gyncommunity:

Cesarean Scar PregnancyIt can be detected early in the 1st ∆!!! Look where the placenta is inserted!!!:

Lately, there is a new threat to the Ob/Gyncommunity:

Cesarean Scar PregnancyIt can be detected early in the 1st ∆!!! Look where the placenta is inserted!!!:

• Timor‐Tritsch I, Monteagudo A. Unforeseen consequences of the increasing rate of cesarean deliveries: early placenta accreta and cesarean scar pregnancy. A review. Am J Obstet Gynecol. 2012;207(1):14–29.

• Timor‐Tritsch I, Monteagudo A, Santos R, Tsymbal T, Pineda G, Arslan AA. The diagnosis, treatment, and follow‐up of cesarean scar pregnancy. Am J ObstetGynecol. 2012;207(1):44.e1–e13.

• Stirnemann J, Chalouhi G, Forner S, et al. First‐trimester uterine scar assessment by transvaginal ultrasound. Am J Obstet Gyncol. 2011;205(6):551.e1–e6.

• Stirnemann J, Mousty E, Chalouhi G, Salomon LJ, Berard JP, Ville Y. Screening for placenta accreta at 11‐14 weeks of gestation. Am J Obstet Gynecol. 2011;205(6):547.e1–e6.

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• Cell free DNA testing can be offered to patients but should not be part of routine prenatal laboratory assessment.

• It should be an informed choice after pretest counseling

• Should not be offered to low risk patients or multiple gestations

ACOG Committee Opinion #545 Noninvasive Prenatal Testing for Fetal

Aneuploidy

ACOG Committee Opinion #545 Noninvasive Prenatal Testing for

Fetal Aneuploidy

• In a rather short time NIPT will enter the “routine use” status as this happened with:

–Doppler evaluations

–TVS

–NT

–3D US

ACOG Committee Opinion #545 Noninvasive Prenatal Testing for

Fetal Aneuploidy

• When NIPT will be routine or almost routine, we may have a smaller number of patients to perform anatomy evaluations on

• This will lead to some, obvious, early detectable structural anomalies undetectable by NIPT to be missed

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The American Institute of Ultrasound in Medicine (AIUM) recommendation

• “Embryonic/fetal anatomy appropriate for the 1st r should be assessed” during the 1st ∆”

• Although AIUM provides no details about the list of structures to be evaluated, it does provide a guideline for the 2nd ∆ anatomy scan that can be adapted easily for use in the first trimester.

•AmericanInstituteofUltrasoundinMedicine.AIUMPracticeGuidelineforthePerformanceofObstetricUltrasoundExaminations.http://www.aium.org/resources/guidelines/obstetric.pdf.EffectiveOctober1,2007..

The International Society of Ultrasound in Obstetrics and Gynecology (ISUOG)

Published guidelines for 1st∆ US—including its use as an anatomy scan. The ability to assess anatomical structures in the depends on the quality of the equipment as well as the training of the sonographer or sonologist.

UOG 2013;41:102‐113

Second‐trimester follow‐up is recommended

• Because some congenital anomalies cannot be identified in the 1st∆ (or may progress into the 2nd∆), a follow‐up US in the 2nd∆ should always be recommended.

• AIUM guidelines for a 2nd ∆ anatomy work‐up mandate the visualization and documentation of a number of structures and organs

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What to look for during 1st ∆ imaging

Before we describe which anatomical structures and fetal anomalies can be assessed during the first trimester, we’d like to recommend 2 articles providing a comprehensive list of anomalies that have been identified in the 1s∆t by Fong et al & by Syngelaki et al.

•SyngelakiA,ChelemenT,DagklisT,AllanL,NicolaidesKH.Challengesinthediagnosisoffetalnon‐chromosomalabnormalitiesat11‐13weeks.Prenat Diagn.2011;31(1):90–102..•FongKW,Toi A,SalemS,etal.DetectionoffetalstructuralabnormalitieswithUSduringearlypregnancy.Radiographics.2004;24(1):157–174.

Anomaly Detection in theFirst Trimester

• When is it a realistic time to perform the anatomy scan?

• What structures should be included in the scan?

• Which anomalies can be detected in the 1st trimester?

• It really means anomaly detection between 11 to 136/7 weeks

• It really means anomaly detection between 11 to 136/7 weeks

Anomaly Detection in theFirst Trimester

• However, many times anomalies can be diagnosed even before 11 weeks

• However, many times anomalies can be diagnosed even before 11 weeks

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Majority of > 20 published studies = 2 staged protocols with an 11‐14 wk scan followed by an 18‐22 wk scan

First‐trimester detection rates range 16‐84%

Majority reported detection rates > 50%

After the 2nd trimester ultrasound, two‐stage protocols reported detection rates of 48‐95%

Highest detection rates were achieved in studies screening high‐risk women

113:402.

1∆ Anatomic Survey: Detection Rates

Timor‐Tritsch, Obstet Gynecol 2009Timor‐Tritsch IE1, Fuchs KM, Monteagudo A, D'alton MEPerforming a fetal anatomy scan at the time of first‐trimester screening. ObstetGynecol. 2009 Feb;113(2 Pt 1):402‐7

g yMost fetal organs are formed and

can be imaged by 14 weeks

Weeks NAnt & Post contours

Long bones Fingers

Face Palate

Foot Toes

4 Chamber view

9 17 +F&H ±T&R ‐ ± ‐ ‐ ‐

10 16 +F&H ±T&R ‐ ± ± ‐ ‐

11 17 + + ± ± ± ‐

12 15 + + + + ± ±

13 14 + + + + + ±

14 18 + + + + + +

± : Threshold level (first seen) +: Discriminatory level (always seen)

Timor‐Tritsch IE, Monteagudo A, Peisner DB. High‐frequency transvaginal sonographic examination

for the potential malformation assessment of the 9‐week to 14‐week fetus. JCU 1992;20:231‐8.

The study supports the possibility of searching for specific malformations at or after 9‐14 weeks, or performing a more comprehensive malformation

evaluation after 13 weeks.

The optimal gestational age to examine fetal anatomy and measure nuchaltranslucency in the first trimester

Whitlow BJ, Economides DL. UOG 1998;11:258‐61.

Objective: to determine the optimal gestational age for examining fetal anatomy and nuchal translucency in the first trimester.

Study Design: Prospective cross –sectional study; N=1288

Results: Visualization of fetal anatomy improved with increasing gestational age

10 weeks = 6% 11 weeks = 75% 12 weeks = 96%13 weeks = 98% 14 weeks = 98%

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Success rates for visualization of structures (TVS & TAS) (N=1288)

Modified After: Whitlow BJ, Economides DL. The optimal gestational age to examine fetal anatomy and measure nuchal translucency in the first trimester. UO G 1998;11:258‐61.

Conclusions: the optimal gestational age to examine fetal anatomy and measure nuchal

translucency in the first trimester is 13 weeks.

Visualization of fetal organs 11‐14 wks (n=1144)

Souka AP, Pilalis A, Kavalakis Y, Kosmas Y, Antsaklis P, Antsaklis A. Assessment of fetal anatomy at the 11‐14‐week ultrasound examination. UOG 2004;24:730‐4.

Structural evaluation of the fetus at 11‐14 weeks performed by sonographers in the

USA: A feasibility study (N=223)

Timor‐Tritsch IE, Bashiri A, Monteagudo A, Arslan AA. Qualified and trained sonographers in the US can perform early fetal anatomy scans between 11 and 14 weeks. AJOG 2004;191:1247‐52.

Can USA sonographers perform a structural evaluation of the fetus at 11‐14 weeks; with comparable detection rates as those performed in Europe by physicians ???

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Visualization rates of structures by wks

Timor‐Tritsch IE, Bashiri, A., Monteagudo, A. et al,. AJ OG 2004; 191(4): 1247‐52.





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Conclusion:Anatomic surveys between 11 and 14 weeks can be performed by

sonographers with good detection rates of most structures.

What to look for during 1st∆ US

• Before we describe which anatomical structures and fetal anomalies can be assessed during the 1st∆, I’d like to highlight two articles that provide a comprehensive list of anomalies that have been identified in the 1st∆ by Fong et al and by Syngelaki etal.

•SyngelakiA,ChelemenT,DagklisT,AllanL,NicolaidesKH.Challengesinthediagnosisoffetanon‐chromosomalabnormalitiesat11‐13weeks.Prenat Diagn.2011;31(1):90–102..•FongKW,Toi A,SalemS,etal.DetectionoffetalstructuralabnormalitieswithUSduringearlypregnancy.Radiographics.2004;24(1):157–174.

Which anatomic structures should be included in the scan?

Which anatomic structures should be included in the scan?

• AIUM and ACOG have published a list of fetal structures which constitute the essential elements of the anatomical survey.

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What is the role of the gestational age in constructing the list of structures to be scanned at 11‐136/7 weeks?

What is the role of the gestational age in constructing the list of structures to be scanned at 11‐136/7 weeks?

• Due to the developmental timeline of the fetal structure, not all routinely imaged during the 2nd trimester anatomy scan are fully formed at 11‐136/7 weeks

• Therefore the question is: which anatomical structures could and should be assessed at 11‐136/7 weeks??

UOG 2013;41:102‐113

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Fetal ImagingFetal Imaging Workshop 2013

• Executive summary of a Joint Eunice Kennedy Shriver National Institute of

Child Health and Human Development, SMFM, AIUM, ACOG,

ACR, SPR, and SRU

Uma M. Reddy, MD, MPH, Alfred Z. Abuhamad, MD, Deborah Levine, MD, George R. Saade, MD for the Fetal Imaging Workshop Invited Participants*

Due to its attributed clinical importance it was published in

the three most important Ob/GynJournals

Am J Obstet Gynecol. 2014 May;210(5):387‐97. Obstet Gynecol. 2014 May;123(5):1070‐82. J Ultrasound Med. 2014 May;33(5):745‐57. .

The single paragraph dealing with 1st

trimester anatomy scan:• “Offering NT screening for aneuploidy assessment at 11 to 13 6/7 weeks’ gestation is part of standard of practice in the U.S.”

“If a late 1st trimester US is performed for dating or NT assessment, evaluation for early detection of severe fetal anomalies such as anencephaly and limb‐body wall complex is reasonable. In some

experienced centers, detection of other major fetal anomalies in the first trimester is possible.”15‐19

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Fetal imaging: Executive summary of a Joint Eunice Kennedy Shriver National Institute of Child Health

and Human Development, Society for Maternal‐Fetal Medicine, American Institute of Ultrasound in

Medicine, American College of Obstetricians and Gynecologists, American College of Radiology, Society for Pediatric Radiology, and Society of

Radiologists in Ultrasound Fetal Imaging Workshop.Reddy UM, Abuhamad AZ, Levine D, Saade GR; Fetal

Imaging Workshop Invited Participants.

Am J Obstet Gynecol. 2014 May;210(5):387‐97. Review.Obstet Gynecol. 2014 May;123(5):1070‐82. J Ultrasound Med. 2014 May;33(5):745‐57. .

• Alphabetical Order: Jacques Abramowicz, MD, Rush University Medical Center; Alfred Abuhamad, MD, Eastern Virginia Medical School; Ray Bahado‐Singh, MD, Wayne State University; Beryl Benacerraf, MD, Harvard Medical School; Carol Benson, MD, Harvard Medical School; Dorothy Bulas, MD, Children's National Medical Center; Beverly G. Coleman, MD, University of Pennsylvania; Joshua Copel, MD, Yale University School of Medicine; Mary D'Alton, MD, Columbia University; Jodi Dashe, MD; University of Texas Southwestern Medical Center; Peter Doubilet, MD PhD; Harvard Medical School; Jeffrey L. Ecker, MD, Harvard Medical School; Mary C. Frates, MD, Harvard Medical School; James D. Goldberg, MD, California Pacific Medical Center; Lyndon Hill, MD, University of Pittsburgh; John Hobbins, MD, University of Colorado; Sarah Katel, MD, Kaiser Permanente; Jeffrey A. Kuller, MD, Duke University Medical Center; Deborah Levine, MD, Beth Israel Deaconess Medical Center; George A. Macones, MD, MSCE, Washington University School of Medicine; M. Kathryn Menard, MD, MPH, University of North Carolina School of Medicine; Kenneth J. Moise, Jr., MD, University of Texas Medical School at Houston; Mary Norton, MD, Stanford University School of Medicine; Dan O’Keeffe, MD, Society for Maternal‐Fetal Medicine; Lawrence Platt, MD, University of California, Los Angeles; UmaM. Reddy, MD, MPH, Eunice Kennedy Shriver National Institute of Child Health and Human Development; George Saade, MD, University of Texas Medical Branch at Galveston; Lynn Simpson, MD, MSc, Columbia University Medical Center; Catherine Y. Spong, MD, Eunice Kennedy Shriver National Institute of Child Health and Human Development; Ilan E. Timor Tritsch, MD, New York University Medical Center; Isabelle Wilkins, MD, University of Illinois at Chicago; Honor Wolfe, MD, Case Western Reserve University

First trimester normal and abnormal anatomy. Can we finally match the rest of the

world?

First trimester normal and abnormal anatomy. Can we finally match the rest of the

world?

So, the questions still stands:

We could! We Would! But, sadly enough, we are forced to adopt the

“brass standard”!

We could! We Would! But, sadly enough, we are forced to adopt the

“brass standard”!

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Yes, it is….but now I need to provide you

with more evidence !!!

Is the 1st Trimester Screen appointment a realistic time to start performing an anatomical

survey?

The first trimester anatomy should be followed by a complete anatomy scan at 18‐22 weeks to look for anatomic structures or anomalies that cannot be diagnosed at 11‐136/7 weeks.

i.e. agenesis of the corpus callosum

Examples from our practiceAnatomical structures

suggested to be included in the anatomic scan by ISUOG at

11 to 136/7 weeks and beyond …..

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Head

• Shape

• Cranial Bones

• Midline Falx

• Choroid Plexus

12 2/7 weeks

12 2/7 weeks

Face

• Profile

• Nasal bone

• Maxilla

• Mandible

Face

Retronasal Triangle View

• Two frontal processes of the maxilla

• Palate

12 0/7 weeks

NEW INFO: Waldo Sepulveda: the use of the retronasaltriangle view to detect the nasal bone in the 1st trimester(UOG 2014)

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• Upper lipFace

12 0/7 weeks

Face

12 2/7 weeks

• Orbits

• Lenses

12 5/7 weeks

Face

12 2/7 weeks

• Orbits

• Lenses

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Neck

12 2/7 weeks

12 5/7 weeks12 2/7 weeks

Spine

Spine

13 3/7 weeks

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GA 11 weeks

Courtesy: Ritsuko Pooh, Japan

Posterior fossa pathology ??

Chest

• Lung fields

• Anterior & posterior fetal body contour

12 2/7 weeks

13 3/7 weeks

• 4 chamber views

Heart

Apical & septal 4Ch views, Doppler flow

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• RVOT• LVOT

13 3/7 weeks

Heart

• Aortic arch• Ductal arch

13 3/7 weeks

Heart

Abdomen

13 3/7 weeks

• Stomach• Bladder

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13 3/7 weeks

Abdomen • Kidneys•Bladder• Renal Arteries

13 3/7 weeks

Abdomen

• Cord Insertion• Umbilical arteries

Extremities• Upper

12 5/7 weeks

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12 5/7 weeks

• Lower

Extremities

Dichorionic

12 weeks

Monochorionic

T

w

i

n

s

Anomalies

All the anomalies present and detected at these gestational ages were published in the literature

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Exencephaly/Anencephaly Sequence

12 w 1d

15 w

??

These are most probably the “skeleton of bloodvessels” left behind after the neural tissue “rubbed off”

Exencephaly/Anencephaly sequence? another proof of the natural hx ?

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Holoprosencephaly

11 4/7 weeks 12 1/7 weeks 13 2/7 weeks

9 6/7 weeks

The earliest and easiest detectable brain anomaly

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Holoprosencephaly

12 3/7 weeks

Median

Horizontal

Coronal

Inversion

Fused anterior horns of the lateral ventricles

9 weeks 2 days holoprosencephaly

Median

Horizontal

Coronal

Superior view of the “cast” of the ventricles

Fused anterior horns

Posterior

…and this…….

9w 2d Semilobar holoprosencephaly

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9w 2d holoprosencephaly

8w NL

al

SagittalCoronal



Fused ThalamiChoroid plexuses

10w 1d holoprosencephaly

Inversion of ventricles: lateral view10w 1d holoprosencephaly10w 1d holoprosencephaly

Inversion renderingInversion rendering

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Holoprosencephaly 11 wks

Inversion rendering

Holoprosencephaly 13 wks

Coronal

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Sagittal

Axial


Imprint of Falx

Imprint of Falx

Occipital horn

Lateral view

Superior view

Anterior view

Occipital horns

13 weeks holoprosencephaly

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3D Inversion rendering of the fused ventricles

Anterior view

Superior view

Lateral view view

Superior view

Comparative images of the anatomy of the anterior horns

Normal brains

Brains with holoprosencephaly

Anterior

Superior view

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Thick Nuchal Translucency

11 5/7 weeks

Thick NT’s

NT= 3.4 mm; EGA 12 2/7 wks

NT= 3.5 mm; EGA 12 2/7 wks

Normal Chromosomes

Down syndrome

12 3/7 weeks

Cystic Hygroma

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Cystic Hygroma112/7 weeks

Trisomy 18Trisomy 18

Cystic Hygroma 112/7 weeksCystic Hygroma 112/7 weeks

Normal Chromosomes

Posterior Cephalocele

12 4/7 weeks

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13 3/7 weeks

Posterior Cephalocele

Exencephaly 112/7 wks

3D Twins discordant for Exencephaly125/7 wks

3D Twins discordant for Exencephaly125/7 wks

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Presented at 11w 6d for NT screen CRL= 9w No FH beats

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Anterior Cephalocele

13 1/7 weeks

Meckel Syndrome

Brain lesion: ? future cephalocele?

11 3/7 weeks

Micrognathia

13 6/7 weeks

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Micrognathia

13 6/7 weeks

Cleft Lip and Palate

12 1/7 weeks

Cleft Lip and Palate

12 1/7 weeks

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Histology Courtesy :Dr A. Friedman Mt Sinai NY

15 weeks 4 days

12 weeks 5 days

NL lenses

Congenital cataracts

Monteagudo A, Timor‐Tritsch IE, Friedman AH, Santos R. Autosomal dominant cataracts of the fetus: early detection by transvaginal ultrasound. UOG 1996;8:104‐8.

Spina Bifida

12 3/7 weeks

Spina Bifida

12 3/7 weeks

TH

BS

ITCP

FCM

OB

TH

BS

CP

OB

Non‐visualization of the Intracranial Translucency Normal

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The impacted cerebellum obliterating the foramen magnum: “banana sign”

Specimen: Courtesy Dr Bronshtein, IsraelSpecimen: Courtesy Dr Bronshtein, Israel

SPINA BIFIDA14 Weeks 3 days

SPINA BIFIDA14 Weeks 3 days

, Spina bifida at 9 weeks

Courtesy: Ritsuko Pooh, Japan

Pentalogy of Cantrell 13 weeks

Pentalogy of Cantrell 13 weeks

• Large midline defect•Cleft sternum• Ectopia cordis• Pericardial defect• Diaphragmatic defect• Omphalocele

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OEIS syndrome

14 weeks 3 days

• Omphalocele• Exstrophy of bladder• Imperforate anus• Spinal defect

•

12 0/7 weeks

OEIS Complex

Omphalocele

Spinal defect

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Sacrococcygeal Teratoma

ROMAN AS, MONTEAGUDO A et al. . First‐trimester diagnosis of sacrococcygeal teratoma: the role of 3D ultrasound. UOG 2004; 23: 612–614 12 6/7 weeks

Large Bladder

10 5/7 weeks

12 1/7 weeks

Large Bladder

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Lower urinary tract obstruction

B

B

Large Bladder

3D Inversion rendering of the bladder

Large Bladder

Large Bladder

12 4/7 weeks

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Single Umbilical Artery

11 6/7 weeks

Exstrophy of the Bladder2V Cord

11 5/7 weeks

Exstrophy of the BladderUmbilical Cord Cyst, 2VC

11 5/7 weeks

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11 5/7 weeks

Bladder Exstrophy, Umbilical Cord Cyst and 2VC

Hematoma

Placenta

Cord Insertion

Hematoma

Cord Insertion

Placenta

Monteagudo A, Sfakianaki AK, Timor‐Tritsch IE. Velamentous insertion of the cord in the first trimester.

UOG 2000;16:498‐9.

Velamentous Cord Insertion

11 6/7 weeks

11 4/7 weeks

Omphalocele

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Omphalocele

11 6/7 weeks

Omphalocele

12 1/7 weeks

Gastroschisis

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Bowel loops on the right side of the cord

11 1/7 weeks

Limb‐Body‐Wall Complex

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Polydactyly

14 0/7 weeks

Proximal Femoral Focal Deficiency (PFFD)

Proximal Femoral Focal Deficiency (PFFD)

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Extremities‐ Right Hand

12 1/7 weeks

Extremities‐ Right Hand

12 1/7 weeks

Hand Deformity Trisomy 18

11 0/7 weeks

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Right Partial Limb Reduction

12 4/7 weeks

3D Rt. Partial Amelia 12w 4d

Absent Hand

Left Right (normal) 15 1/7 weeks

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SUA

Monteagudo A, Mayberry P, Rebarber A, Paidas M, Timor‐Tritsch IE. Sirenomelia sequence: first‐trimester diagnosis with both two‐ and three‐dimensional sonography. JUM 2002;21:915‐20.

11 3/7 weeks

Sirenomelia

Sirenomelia

Monteagudo et al JUM 2002;21(8): 915‐20

Sirenomelia

12 0/7 weeks

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Anomalies Seen in Twin Pregnancies

Di‐Di Concordance is Uncommon (~10%)Twins Discordant for Exencephaly

Twin A

Twin B

A: NL (NT of 0.7mm)B: Acephalic, had cystic hygroma, no heart,SUA

Twin Reversed Arterial Perfusion Sequence (TRAP) “Acardiac Twin”

• A‐to‐A anastomosis• Reversed arterial flow was confirmed 11 4/7 weeks

Bornstein E, Monteagudo A, Dong R, Schwartz N, Timor‐Tritsch IE. Detection of twin reversed arterial perfusion sequence at the time of first‐trimester screening: the added value of 3‐

dimensional volume and color Doppler sonography. JUM 2008;27:1105‐9.

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3D Acardiac Twin

11 4/7 weeks

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Conjoined Twins

10 5/7 weeks

Bornstein E, Santos R, Timor‐Tritsch IE, Monteagudo A. "Brothers in arms": 3‐dimensional sonographic findings in a first‐trimester thoraco‐omphalopagus conjoined twin pair. JUM 2009;28:97‐9.

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Conjoined twins 10 weeks

Courtesy: Yvan Viale MD Lausanne

Courtesy: Yvan Viale MD Lausanne

C

A & BA & B

Timor‐Tritsch IE, Monteagudo A, Horan C, Stangel JJ. Dichorionic triplet pregnancy with the monoamniotictwin pair concordant for omphalocele and bladder exstrophy. UOG 2000;16:669‐71.

Triplet Pregnancy A&B: MoMo Concordant for Bladder Exstrophy &

Omphalocele

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T16 at 10 weeks: ectopia cordis

Courtesy: Patricia Mayberry RDMS

Courtesy: Patricia Mayberry RDMS

Summary: I tried to alert you that we should NOT be missing out on 1st trimester US

• It is made possible by high‐frequency transvaginal transducers and better understanding of early signs of fetal pathology.

• It can be performed by TVS and by TAS

• At 12 weeks, about 40% to 50% of common US discernable anomalies are already present

• 2nd ∆ follow‐up US is imperative

• Now that less 1st ∆ screening with NT will be scheduled, it is time for re‐introduction of 1st ∆ anatomy scan Timor‐Tritsch I, Gupta S: Evolving applications of first‐

trimester ultrasound. OBG Management 2012 (Dec).

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Conclusions• When is it a realistic time to perform the 1st

trimester anatomy scan?

• At 11 to 13 6/7 weeks

• What structures should be included?

• The ISUOG suggested structures

• Which anomalies can be detected?

• Major anomalies such as anencephaly, HPE, some limb defects and many more…..

• When is it a realistic time to perform the 1st

trimester anatomy scan?

• At 11 to 13 6/7 weeks

• What structures should be included?

• The ISUOG suggested structures

• Which anomalies can be detected?

• Major anomalies such as anencephaly, HPE, some limb defects and many more…..

Conclusions• Do not let this relatively simple and useful diagnostic and in specific cases a screening modality be pushed to the sidelines because of the introduction of NIPT

• They are not mutually exclusive

• They are complementary!

• Do not let this relatively simple and useful diagnostic and in specific cases a screening modality be pushed to the sidelines because of the introduction of NIPT

• They are not mutually exclusive

• They are complementary!

11 2/7 weeks

Thank You

are we behind? - obstetrics and gynecology are we behind? when i slowly realized that nipt is...

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