Disclosures 5/2/17. None

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1 Joshua A. Copel, MD Professor, Ob-Gyn & Pediatrics Yale University School of Medicine New Haven, CT None Disclosures 1

2 Infant mortality, USA, 2006 # Rate* % Congenital anomalies 5, Premat, LBW, RDS 4, SIDS 2, Mat complications 1, Accidents 1, Placenta, cord, membranes 1, Bacterial sepsis RDS Hemorrhage Other 10, *Death < 1 year/100,000 liveborn Nat Vital Stats Reps 2009;58:1-51 CHD Impact on Infant Mortality Other % Cardiovascular % MSK % CNS 419 7% Respiratory 393 7% Nat Vital Stats Reps 2009;58: Infant mortality 1363/5785 due to cardiovascular anomalies (23.5%) National Vital Statistics Reports, Vol. 58, No. 19, May 20,

3 2013 US data inpatient hospitalization costs MMWR Morb Mortal Wkly Rep 2017;66: DOI: Full fetal echo views Four chamber Long axis left ventricle Short axis great vessels Aortic arch Pulmonary artery/ductal arch SVC/IVC 3 vessel trachea Pulmonary veins Components of 4 chamber view Heart in left chest ( stomach) Atria = sizes Ventricles = sizes Left atrium posterior Foramen ovale flap in LA Apical offset tricuspid valve Intact interventricular septum Moderator band in RV Axis (mean 45 ) Heart occupies 1/3 of chest area 3

4 4 Chamber Screening Trieste, Italy Single institution N = 7024 Total CHD = 65 (9.3/1000) Major defects 4.4/1000 Sensitivity 35% overall 52% prenatally detectable Rustico Ultrasound Obstet Gynecol 1995;6:1-7 4 Chamber Screening, Trieste, Italy Cost analysis: 7024 patients, 15% scanned twice Total cost $323,104 Cost/positive diagnosis $ 14,048 Rustico Ultrasound Obstet Gynecol 1995;6:1-7 4 Chamber Screening, Trieste, Italy Cost analysis: 7024 patients, 15% scanned twice Total cost $323,104 Cost/positive diagnosis $ 14,048 Cost/scan $ 40 Rustico Ultrasound Obstet Gynecol 1995;6:1-7 4

5 Screening worldwide Author Total N # CHD Rate/1000 Sens (%) Todros 8, Luck 8, Chitty 8, Rosendahl 9, Crane 7, Levi 16, Vergani 5, Achiron 5, Stoll 26, Scheel Tegnander 7, Buskens 5, Total 108, Todros Prenat Diagn 1997 ;10:901-6 Screening in Europe Range of detection 30% ASD to 70% HLHS TOF, TGA, PS/PA, AS all ~50% Stoll Prenat Diagn 2001;21: Screening in Europe Sensitivity varied with # exams standard No routine US 17.9% 1 routine exam 32.7% 2 routine exams 30.5% 3 routine exams 55.6% Stoll Prenat Diagn 2001;21:

6 Dutch national screening program , structured screen from 2007 N = 1912 CHD 4 chamber, outflows, 3VT Detection rate > 59.7% (p<0.001) Isolated CHD > 44.2% (p<0.001) Best: HLHS, univent heart, isomerism Worst: venous return, aortic arch anomalies BJOG 2015; DOI: / Chamber Screening Vienna, Austria Single institution - full fetal echo N = 3085 Total CHD =52 (16.8/1000) Detected 46 (88.5%) Low risk N = 2181, CHD in 15 (6.9/1000) Stümpflen I, Lancet 1996;348: Are outflows standard? AIUM, ACOG, SMFM, ACR guidelines now include both RVOT & LVOT as a routine part of the standard examination 6

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8 Cardiac Axis Cardiac axis Normal 45 ± 15 Increased in abnormals Outflow tracts especially Also increased with gastroschisis, omphalocele Shipp Obstet Gynecol 1995;85: Smith Obstet Gynecol 1995;85:

9 Cardiac Axis Cardiac Axis Override aorta & Trisomy 18 Cardiac Axis 9

10 Cardiac Axis Cardiac Axis Transposition of the great arteries 4 CH + Outflows Kirk Obstet Gynecol 1994;84:

11 Differing views Retrospective cohort study 10 years, 1474 cases, Utah 64% missed with abnormal outflow 42% missed with abnormal 4 chamber All theoretical, overall real detection rate: 39% Pinto Ultrasound Obstet Gynecol 2012; Differing views Prospective evaluation 200 infants undergoing cardiac surgery Abnormal 4 ch view expected in 63% Abnormal outflows expected in 91% Overall actual detection rate 33% Sklansky J Ultrasound Med 2009;28: When to look Yagel, Circulation,

12 Meta-analysis cardiac views View Detection rate (%) 95% CI 4 chamber alone ch + outflows OR 3VT ch + outflows AND 3VT Li PLOS One 2013;8:e65484 When shouldn t we screen? Screens work well in low risk groups Moderate sensitivity may be acceptable in low risk population, minimize false +s In higher risk groups, want optimal sensitivity because high prevalence disease raises PPV Risk Factors for CHD Familial Maternal Fetal 12

13 Increased NT & CHD NT n Major CHD Incidence CHD < , / / / /1000 FASTER data, Simpson, SMFM, 2005 Increased NT Coding Use when performing echo (O28.3) IVF (V23.85; O09.81X) Author Location OR 95% CI Kurinczuk 1997 Australia, Belgium Hansen 2002 Australia Koivuriva 2002 Finland Bahtiyar, 2010 USA

14 Monochorionic Twins Bahtiyar JUM 2007; 26: Monochorionic Twins- Coding Twins V91.02 Monochorionic, diamniotic V91.01 Monochorionic, monoamniotic Codes available for triplets etc TTTS O30 series for multiples; O43.0- for TTTS Conclusions CHD common cause of neonatal/infant morbidity/mortality There are lots of risk factors Risk factors can help, but don t identify most cases of CHD (2%: Øyen) 14

15 Conclusions Fetal echo does make a difference Screening must improve Outflows part of the solution 15