Disclosures. Lecture Objectives. Lecture Outline. Objectives. Congenital Malformations FIRST TRIMESTER FETAL ANATOMIC ASSESSMENT

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1 FIST TIMESTE FETA ANATOMIC ASSESSMENT Disclosures eem S. has no disclosures. eem S., MD, FACOG, FACS, FAIUM Center For Advanced Fetal Care Tripoli - ebanon ecture Objectives ecture Outline By the end of this lecture the viewer should: First trimester fetal anatomic assessment at weeks Understand the reasons behind an week anatomic assessment Understand how to carry out a systematic anatomic assessment at weeks Understand the various type of anomalies amenable to detection at weeks: what should be detected, what may be detected, and what cannot be detected Understand the limitations of fetal assessment at weeks Understand the safety concerns at weeks Understand future direction of fetal evaluation in the first trimester Take away key tips and pearls Background information Why early? How to carry out a systematic anatomic assessment at weeks Detection of anomalies: what should be detected, what may be detected, and what cannot be detected imitations and safety in the first trimester Future direction Tips and pearls Objectives Congenital Malformations Background Pearls & Conclusions Future Direction Why Early? Systemic Evaluation Affect 3-5% of all pregnancies Most common cause of infant mortality Suboptimal detection 16-77% * imitations Anomaly Detection NTD at 12w6d S. A Practical Guide to 3D Ultrasound. CC Press osano et al. J Epidimiol Community Health 2000; 54:660 Ewigman et al. NEJM 1993; 329: ; Chitty et al. Prenat Gaid 1995; 15:1241 1

2 But Majority have no risk factors Objectives Background Pearls & Conclusions Why Early? Future Direction Systemic Evaluation MUST SCEEN THE ENTIE POPUATION imitations Anomaly Detection Why Detect Early? Main Considerations Global Implementation as a esult of Workup Options TOP imitations Safety Explain sudden IUFD Natural progression Psychological Obstetrical care Early eassurance Deaths / 100,000 abortions Abortions in the USA Bartlett et al Gestation (wks) NIPT NT Technical Advances Courtesy of Prof. Nicolaides Barlett et al. Obstet Gynecol 2004; 103:729 Maiz et al. Prenatal Diagnosis 2016; epub ahead of print. Keep In Mind Today we have access to more than 70% of pregnancies who are undergoing NT assessment at weeks Salveson et al. UOG 2011; 37:625 eiff et al. Prenatal Diagnosis 2016; 36:260 2

3 A Shift in the ole of NT with NIPT Full Anatomic Survey BEYOND SCEENING FO ANEUPOIDY It is Now Possible to ule out Structural Anomalies In the most ideal situations, FTS can detect Up to 82% of anomalies and 2/3 of cardiac lesions Oral Communication ISUOG 2007 Objectives Background Pearls & Conclusions Why Early? Future Direction Systemic Evaluation ossi et al. AJOG 2013; 122:1160 imitations Anomaly Detection 3

4 Must Keep in Mind Timing imits are 11w0d-13w6d Ideally weeks Skull ossifies at weeks Fetuses have exompholos at 9-10 weeks that resolves by 12 weeks Systemic Approach Placenta Just as in the second trimester Fetal position and dexterity Placental localization Full anatomic evaluation S. A Practical Guide to 3D Ultrasound CC Press 2015 Systemic Approach Butterfly Sign Sepulveda et al. J Ultrasound Med 2004; 23:761 4

5 Posterior Fossa Systemic Approach Face etronasal Triangle Frontal Process of Maxilla NB NB Primary Palate Adapted from A Practical Guide to 3D Ultrasound S. CC Press 2015 Sepulveda et al. UOG 2010, 35:7 J Ultrasound Med 2010, 29:1555 Mandibular Gap Frontal Process of Maxilla NB NB Primary Palate Mandibular Gap Sepulveda et al. UOG 2012; 39:152 Chaoui et al. UOG 2015; 46:665 5

6 The Mid-Sagittal View Chaoui et al. UOG 2015; 46:665 Systemic Approach MG Characteristic Normal Controls (n=86) Isolated (n=37) Facial Clefts Other Defects (n=49) No Gap 80 (93%) 13 (35.1%) 2 (4.1%) Partial Gap 6 (7%) 24 (64.9%) 34 (69.4%) Complete Gap (26.5%) Gap < 1.5 mm 6 (100%) 11/24 (45.8%) 13/47 (27.7%) Chaoui et al. UOG 2015; 46:665 Abdomen Systemic Approach 6

7 Pelvis Evanascent Pelvic ucency in Anal Atresia Genitalia Bladder + 3VC Image adapted from Bault et al. UOG 2010; 36:11 Systemic Approach Intracerebral Tanslucency Chaoui et al. UOG 2009; 34: and UOG 2010; 35:133 atio of BPD to TAD in NTD Spine BPD/TAD ~ 1 Simon et al. UOG 2015; 45:267 7

8 Extremities The First Trimester Sweep TV at 11w3d Using IC 6-12 Systemic Approach Congenital Heart Disease Most common major abnormality Incidence: 8.8/1000 live births 30% with associated defects Contributes to >50% of congenital anomaly-related deaths in childhood Pentalogy of Cantrell Hoffman et al. Am J Cardio 1978; 42:641 Abuhamad & Chaoui. Practical Guide to Fetal Echocardiography: Normal and Abnormal Hearts. 2 nd Edition How Good Are We? How Good Are We? Non-selected population in Norway fetuses Prospective 1 year study Northern California Fetuses and infants with CHD < 6 months 98/309 diagnosed (36%) Detection ate at 57% Tegnander et al. UOG 2006; 27:252 Friedberg et al. J. Pediatr. 2009; 155:26 8

9 Can We Improve Our Detection? The First Trimester Heart Prenatal recognition of CHD rose from 17% in 1994 to 30% in 1995 and 36% in Conclusions A simple training program for obstetric ultrasonographers increased their ability to detect serious congenital heart disease at a routine week anomaly scan. Hunter et al. Heart 2000; 84:294 Keeping in Mind In Order to Obtain These Views CV OFT 12 ice Grain Coin: 1 Euro Bicaval View AoA & DAo Allan, Cook & Huggon. Fetal Echocardiography: A Practical Guide Must Acquire Skill in the Second Trimester Systematic Approach Weeks 21W5D S. A Practical Guide to 3D Ultrasound. CC Press W5D 9

10 Nuchal Translucency Cardiac Abnormalities 5/1000 (0.5%) Diabetic Mom 10-15/1000 (1-1.5%) Previous Affected Child 20/1000 (2%) NT > 3.5 mm 50-70/1000 (5-7%) Pooled Sensitivity NT >95 th Centile is 46% Pooled Sensitivity NT >99 th Centile is 21% Practical Guide to Fetal Echocardiography: Normal and Abnormal Hearts: Abuhamad and Chaoui 2009 Sotiriadis et al. UOG 2013; 42:383 Cardiac Axis o Sinkovskaya et al. UOG 2010; 36:676 Sinkovskaya et al. UOG 2014; 44:10 Sinkovskaya et al Obstet Gynecol 2015; 125:453 What Can We See? Type of CHD NT > 95 th Centile CAx Abnormal Conotruncal 30.6% 81.6% Univentricular Hearts 37.9% 96.6% Combined CHD 57.9% 94.7% Total 51.7% 74.1% Sinkovskaya et al Obstet Gynecol 2015; 125:453 10

11 Cardiac Imaging at Weeks Haak et al UOG 2002; 20:9 Transvaginal 92% Huggon et al UOG 2002; 20:22 Transabdominally 84% Key Points Heart Develops GA 5-8 Weeks Chest AP diameter is about 2.5 cm at weeks Can Assess Position Connections Symmetry of 4 Chambers 2 AV valves/septum (Doppler) Septoaortic Continuity 2 Semilunar Valves (Doppler) Normal Cross Over of Arteries Anatomic andmarks Anatomic andmarks ight ventricle is the most anterior, below the sternum eft atrium is closest to the spine most central structure in the chest Aorta is just anterior to the left of the spine Tricuspid valve is more apical than mitral valve Flap of the foramen ovale in the left atrium Moderator band is in the right ventricle Apex formed by the left ventricle eft atrium and aorta occupy the center of the chest Aorta points to the right shoulder as it exits then heads posteriorly towards the spine Pulmonary artery (PA) points to the left shoulder as it exits Outflow tracts cross over, with the PA being more anterior than the left ventricular outflow tract Post bifurcation of the PA, the aorta and PA are almost parallel Systemic Evaluation Transverse Views Systemic Evaluation Sagittal Views 11

12 Systemic Evaluation Transverse Views Establishing Situs 3VV VOT-PA VOT-Ao Apex 4CV Abd Circ Diagram Courtesy of. Daou, MD 4 Chamber View 4 Chamber View A V A V TV at 11w2d Using IC 6-12 Cardiac Axis o Tricuspid egurgitation Sinkovskaya et al. UOG 2010; 36:676 Sinkovskaya et al. UOG 2014; 44:10 12

13 Pulmonary Veins Systemic Evaluation Transverse Views 3VV VOT-PA VOT-Ao Apex 4CV Abd Circ TA at 13w1d Using inear 9MHz Probe Diagram Courtesy of. Daou, MD Outflow Tracts Outflow Tracts Outflow Tracts Cross Over VOT VOT TA at 13w5d Using MC/OB 13

14 Systemic Evaluation Transverse Views 3 Vessel View 3VV VOT-PA PA DA Ao SVC VOT-Ao DAo Apex 4CV Abd Circ Diagram Courtesy of. Daou, MD 3 Vessel View 3 Vessel View PA DA DAo Ao SVC PA DA DAo Ao SVC TV at 13w1d Using IC 6-12 TV at 9w5d Using IC6-12 Systemic Evaluation Transverse Views Systemic Evaluation Sagittal Views TA at 13w2d Using M6C/OB 14

15 ight Atrial Inflow ight Atrial Inflow IVC A DAo SVC TA at 12w6d Using M6C/OB ight Atrial Inflow Aortic Arch & Descending Aorta IVC A SVC TV at 13w1d Using IC 6-12 Aortic Arch & Descending Aorta Aortic Arch & Descending Aorta TA at 13w2d Using M6C/OB TV at 13w1d Using IC

16 Ductal Arch Ductal Arch AoA DA STIC at Weeks STIC Volume with HF Flow TA at 13w0d Using M6C/OB esults % Complete Exam Percentage of findings Number of cases Case Number et al. JUM 2011; 30:695 4CV Doppler of 4CV PV CO 3VV BPA VOT 3VV V Inflow 16

17 Conclusion Objectives Background Fetal cardiac evaluation is feasible in the first trimester At least 52 exams and an average time of 10 minutes needed Time allocation and gained sonographer experience are the most significant factors AV Canal Pearls & Conclusions Future Direction Why Early? Systemic Evaluation HH imitations Anomaly Detection Various Developmental imitations with Structural Defects Always detectable Somewhat detectable Never detectable Various Developmental imitations with Structural Defects Always detectable Somewhat detectable Never detectable Always Detectable Acrania Cystic hygroma Exompholos/Gastroschicis Ectopia Cordis Megacystis Sirenomelia/imb Anbormalities Always Detectable Acrania Cystic hygroma Exompholos/Gastroschicis Ectopia Cordis Megacystis Sirenomelia/imb Anbormalities 17

18 Acrania Always Detectable Acrania Cystic hygroma Exompholos/Gastroschicis Ectopia Cordis Megacystis Sirenomelia/imb Anbormalities Cystic Hygroma Always Detectable Acrania Cystic hygroma Exompholos/Gastroschicis Ectopia Cordis Megacystis Sirenomelia/imb Anbormalities s, Daou. J Ultrasound in Medicine 2010 ; 29:817 Exompholos Always Detectable Acrania Cystic hygroma Exompholos/Gastroschicis Ectopia Cordis Megacystis Sirenomelia/imb Anbormalities 18

19 Ectopia Cordis at 11W6D Pentalogy of Cantrell Always Detectable Acrania Cystic hygroma Exompholos/Gastroschicis Ectopia Cordis Megacystis Sirenomelia/imb Anbormalities, Aoun. UOG 2010; 36:301 Megacystis Always Detectable Acrania Cystic hygroma Exompholos/Gastroschicis Ectopia Cordis Megacystis Sirenomelia/imb Anbormalities s, Daou.J Ultrasound in Medicine 2010 ; 29:817 imb Amputation Various Developmental imitations with Structural Defects Always detectable Somewhat detectable Never detectable s, Daou. J Ultrasound in Medicine 2010 ; 29:817 19

20 Somewhat Detectable Holoprosencephaly Cephalocele Choroid plexus cysts Facial clefts NTD Univentricle/HHS/HHS Congenital diaphragmatic hernia Skeletal dysplasias enal agenesis/hydronephrosis Single umbilical artery Anal atresia Somewhat Detectable Holoprosencephaly Cephalocele Choroid plexus cysts Facial clefts NTD Univentricle/HHS/HHS Congenital diaphragmatic hernia Skeletal dysplasias enal agenesis/hydronephrosis Single umbilical artery Anal atresia Holoprosencephaly Probocis at 12W6d Cephalocele Somewhat Detectable Holoprosencephaly Cephalocele Choroid plexus cysts Facial clefts NTD Univentricle/HHS/HHS Congenital diaphragmatic hernia Skeletal dysplasias enal agenesis/hydronephrosis Single umbilical artery Anal atresia s, Daou. J Ultrasound in Medicine 2010 ; 29:817 20

21 Somewhat Detectable Holoprosencephaly Cephalocele Choroid plexus cysts Facial clefts NTD Univentricle/HHS/HHS Congenital diaphragmatic hernia Skeletal dysplasias enal agenesis/hydronephrosis Single umbilical artery Anal atresia Facial Clefts et al. Abstract presented at the AIUM Annual Convention NY NTD at 12W6D Somewhat Detectable Holoprosencephaly Cephalocele Choroid plexus cysts Facial clefts NTD Univentricle/HHS/HHS Congenital diaphragmatic hernia Skeletal dysplasias enal agenesis/hydronephrosis Single umbilical artery Anal atresia NTD at 12W6d NTD at 12W6D * * * * S. A Practical Guide to 3D Ultrasound. CC Press

22 Somewhat Detectable Holoprosencephaly Cephalocele Choroid plexus cysts Facial clefts NTD Univentricle/HHS/HHS Congenital diaphragmatic hernia Skeletal dysplasias enal agenesis/hydronephrosis Single umbilical artery Anal atresia Hypoplastic ight Heart 12 WEEKS 6 DAYS s, Daou. J Ultrasound in Medicine 2010 ; 29: 1445 Univentricle Dextrocardia at 13W3D AV Canal Tetralogy of Fallot at 12W6D 22

23 Somewhat Detectable Holoprosencephaly Cephalocele Choroid plexus cysts Facial clefts NTD Univentricle/HHS/HHS Congenital diaphragmatic hernia Skeletal dysplasias enal agenesis/hydronephrosis Single umbilical artery Anal atresia eft CDH at 12w5d et al. UOG 2011; 38:190 Somewhat Detectable Holoprosencephaly Cephalocele Choroid plexus cysts Facial clefts NTD Univentricle/HHS/HHS Congenital diaphragmatic hernia Skeletal dysplasias enal agenesis/hydronephrosis Single umbilical artery Anal atresia hizomelia at 12W6D et al. UOG 2010; 36 (supplement 1) Talipes at 12W6D Somewhat Detectable Holoprosencephaly Cephalocele Choroid plexus cysts Facial clefts NTD Univentricle/HHS/HHS Congenital diaphragmatic hernia Skeletal dysplasias enal agenesis/hydronephrosis Single umbilical artery Anal atresia 23

24 enal Pelvises Somewhat Detectable Holoprosencephaly Cephalocele Choroid plexus cysts Facial clefts NTD Univentricle/HHS/HHS Congenital diaphragmatic hernia Skeletal dysplasias enal agenesis/hydronephrosis Single umbilical artery Anal atresia Single Umbilical Artery Somewhat Detectable Holoprosencephaly Cephalocele Choroid plexus cysts Facial clefts NTD Univentricle/HHS/HHS Congenital diaphragmatic hernia Skeletal dysplasias enal agenesis/hydronephrosis Single umbilical artery Anal atresia Anal Atresia Various Developmental imitations with Structural Defects Always detectable Somewhat detectable Never detectable Image adapted from Bault et al. UOG 2010; 36:11 24

25 Never Detectable? Dandy-Walker malformation Ventriculomegaly Agenesis of the corpus callosum Vermian agenesis Mild valvular heart abnormalities ate appearing coarctation of the aorta Pulmonary abnormalities Duodenal atresia Bowel obstruction UPJ obstruction and other mild renal abnormalities Never Detectable? Dandy-Walker malformation Ventriculomegaly Agenesis of the corpus callosum Vermian agenesis Mild valvular heart abnormalities ate appearing coarctation of the aorta Pulmonary abnormalities Duodenal atresia Bowel obstruction UPJ obstruction and other mild renal abnormalities Dandy-Walker Malformation at 13W3D Never Detectable? Dandy-Walker malformation Ventriculomegaly Agenesis of the corpus callosum Vermian agenesis Mild valvular heart abnormalities ate appearing coarctation of the aorta Pulmonary abnormalities Duodenal atresia Bowel obstruction UPJ obstruction and other mild renal abnormalities ole of the Cardiac Axis CoA CAx VSD CAx Never Detectable? Dandy-Walker malformation Ventriculomegaly Agenesis of the corpus callosum Vermian agenesis Mild valvular heart abnormalities ate appearing coarctation of the aorta Pulmonary abnormalities Duodenal atresia Bowel obstruction UPJ obstruction and other mild renal abnormalities TOF CAx AV Canal CAx

26 Pleural Effusion at 12W1D Objectives Background Pearls & Conclusions Why Early? Future Direction Systemic Evaluation imitations Anomaly Detection Safety in the First Trimester Technical/Personal imitations Training Undue Anxiety Machinery Time Consuming Maternal Body Habitus Developmental Stage Bromley at al. JUM 2014; 33:1209 Greatest challenge is the OW ISK PATIENT! Objectives Background Anatomy at 8-10 Weeks? Votino et al UOG 2014; 44: 10 Pearls & Conclusions Why Early? Future Direction Systemic Evaluation imitations Anomaly Detection 26

27 9W4D Fetus C 28.7 mm 9W4D Fetus C 28.7 mm S 9W4D Fetus With C 28.7 MM Unique to the First Trimester Unique to the First Trimester esults Ultimately Plane 0: AC Plane +1: Heart Plane +2: Facial Bones Plane +3: Orbits Plane +4: BPD Plane +5: Butterfly Plane -1: Cord Insertion Plane -2: Bladder s, Ziade. Prenatal Diagnosis 2012; 32:875 27

28 Objectives Practical Pearls Pearls & Conclusions Background Why Early? Practice & Patience Comfort in the Second Trimester Commence with ow BMI Patients Future Direction Systemic Evaluation Utilize Various Probes/outes Employ Magnification imitations Anomaly Detection Use Doppler but Adhere to Safety Concerns Conclusion Hippocrates Detailed first trimester fetal assessment is feasible Critical role in the era of NIPT Powerful tool for early reassurance May diagnose over 70% of major anomalies/chd Does not replace the second trimester scan Its incorporation into clinical practice is inevitable earn the Past and esearch the Present to Predict the Future IT IS TIME TO OOK BEYOND THE NT Thank You! The Future is so Incredibly Bright Key eferences Salomon J, Alfirevic Z, Timor-Tritsch I, Seshadri S, Papageorghiou AT, Tabor A, Chalouhi GE, Toi A, Yeo G, Bilardo C, aine- Fenning NJ. ISUOG Practice Guidelines: performance of first-trimester fetal ultrasound scan. Ultrasound Obstet Gynecol 2013; 41: ossi AC, Prefumo F. Accuracy of ultrasonography at weeks of gestation for detection of fetal structural anomalies: a systematic review. Obstet & Gynecol 2013; 122: Hyett JA, Perdu M, Sharland GK, Snijders S, Nicolaides KH. Increased nuchal translucency at weeks gestation as a marker for major cardiac defects. Ultrasound Obstet Gyencol 1997; 10: Hyett J, Perdu M, Sharland G, Snijders, Nicolaides KH. Using fetal nuchal translucency to screen for major congenital cardiac defects at weeks of gestation: population based cohort study. BMJ 1999; 318: Sotiriadis, A., Papatheodorou, S., Eleftheriades, M. and Makrydimas, G. Nuchal translucency and major congenital heart defects in fetuses with normal karyotype: a meta-analysis. Ultrasound Obstet Gynecol 2013; 42: doi: /uog eiff ES, ittle SE, Dobson, Wilkins Haug and Bryann Bromley B. What is the role of the 11 to 14 week ultrasound in women with negative cell free DNA screening for aneuploidy? Prenatal Diagnosis 2016; 36: Sepulveda W, Dezerega V and Be C. First-Trimester Sonographic Diagnosis of Holoprosencephaly. The butterfly sign. J Ultrasound Med 2004; 23: Chaoui, Benoit B, Mitkowska-Wozniak H, Heling KS, Nicolaides KH. Assessment of intracranial translucency (IT) in the detection of spina bifida at the weeks scan. Ultrasound Obstet Gynecol 2009; 34: Simon EG, Arthuis CJ, Haddad G, Bertrand P, Perrotin F. Biparietal/transverse abdominal diameter ratio 1: potential marker for open spina bifida at week scan. Ultrasound Obstet Gynecol 2015; 45: Chaoui, Orosz G, Heling KS, Sarut-lopez A, Nicolaides KH. Maxillary gap at weeks gestation: marker of cleft lip and palate. Ultrasound Obstet Gynecol 2015; 46: Sotiriadis A, Papatheodorou S, Eleftheriades M, Makrydimas G. Nuchal translucency and major congenital heart defects in fetuses with normal karyotype: a meta-analysis. Ultrasound Obstet Gynecol 2013; 42: Sinkovskaya, ES, Chaoui,, Karl K, Andreeva E, Zhuchenko, Abuhamad AZ. Fetal Cardiac Axis and Congenital Heart Defects in Early Gestation. Obstet & Gynecol 2015: 125; Votino C, Cos T,, Dahman Sidi S, Gallo V, Dobrescu O, Dessy H and Jani J. Spatio-temporal image correlation (STIC) modality at weeks gestation. Ultrasound Obstet Gynecol 2013; 42: S, Ziade MF, SE. earning curve and factors influencing the feasibility of performing fetal echocardiography at the time of the first trimester scan. J. Ultrasound Med 2011; 30: S, Ziade MF, SE. Defining the spatial relationships between 8 anatomic planes in the week fetus. Prenatal Diagnosis 2012; 32: