Abnormal cardiac finding in prenatal sonographic examination: an important indication for fetal echocardiography?

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1 Abnormal cardiac finding in prenatal sonographic examination: an important indication for fetal echocardiography? Rima Bader MD,PhD, FASE, FACC, FRCPCH Prof of Pediatric and Perinatal Cardiology King Abdul Aziz University Hospital, Jeddah Saudi Arabia The Beirut International Congress of Pediatric and Congenital Cardiology, Beirut 17 th October 2012

Rima Bader MD,PhD, FASE, FACC, FRCPCH Prof of Pediatric and Perinatal Cardiology King

3 Background Cardiac abnormalities are frequently not detected by routine ultrasound screening examinations. Although detailed fetal echocardiography is more sensitive in detection of congenital heart disease, it is used only for high-risk cases

Although detailed fetal echocardiography is more sensitive

4 The primary indications for fetal echocardiography (According to the American College of Cardiology) fetal heart abnormalities fetal arrhythmia detected by routine prenatal sonography family history of congenital heart disease,

heart abnormalities fetal arrhythmia detected by routine

5 maternal diabetes or systemic lupus erythematosus fetal exposure to a teratogen fetal karyotype abnormality other fetal system abnormalities

6 Despite the recognition of these risk factors, only 15 30% of cardiac defects are detected before birth.

7 This low detection rate may reflect Inability of traditional risk factors to identify most of the patients at risk As well as the limitations of sonography to detect cardiac anomalies prenatally

patients at risk As well as the limitations of

8 To our knowledge there are limited data about the common indications for fetal echocardiography in Saudi Arabia.

9 Aim A retrospective study to review the primary indications for fetal echocardiography among pregnant women who underwent prenatal sonographic examination over a 1- year period at a tertiary-care fetal echocardiography practice

women who underwent prenatal sonographic examination

10 Try to determine the ability of each primary indication to identify congenital heart disease

11 Methods A retrospective analysis (July 2008 to July 2009) of all pregnant women referred by obstetricians or fetomaternal sonographers to a pediatric cardiology unit in for fetal echocardiography over a 1-year period was performed.

fetomaternal sonographers to a pediatric cardiology unit

12 NT thickness is not included in this study (was not routinely done in our institution)

13 The study was performed at King Abdul Aziz University Hospital ( KAUH ) in the western region of Saudi Arabia. (400 bed capacity)

14 The primary indications for referral for fetal echocardiography were obtained from the obstetric referral forms.

15 Outcome data were extracted from fetal echocardiograms postnatal echocardiograms patient medical records

16 Results 60 pregnant ladies had been referred for fetal echocardiography.

17 The most common primary indication for referral abnormal cardiac findings on the prenatal sonographic examination, in 21 (35%) of the 60 cases.

18 In 19 (90%) of those 21 cases, congenital heart disease (CHD) had been confirmed prenatally and postnatally.

19 Among the 39 patients who had had normal cardiac findings on prenatal sonography but had been referred for fetal echocardiography owing to other primary indications

20 CHD had been confirmed in only 8 cases (20%).

Indications for referral for fetal echocardiography (n=60) IV 7% HF 3% DYS 3% TE 2% ACF 35% EC/CHAN 15% MD 15% FHCHD 20% ACF=Abnormal cardiac findings on screening

21 Indications for referral for fetal echocardiography (n=60) IV 7% HF 3% DYS 3% TE 2% ACF 35% EC/CHAN 15% MD 15% FHCHD 20% ACF=Abnormal cardiac findings on screening sonography,fhchd=family history of CHD,MD=Maternal diabetes, EC/CHAN=Extracardiac fetal anomalies/ Chromosomal abnormalityiv=inadequate visualization, HF= hydrops fetalis, DYS=Dysrhythmia, TE=Teratogen exposure

22 Cardiac malformations diagnosed prenatally (n=27) VSD AVSD AS TOF DORV HV EP Rhabdo TGA VSD=ventricular septal defect, AVSD=atrioventricular septal defect, AS= aortic stenosis, TOF=tetralogy of Fallot, DORV=double outlet right ventricle, HV=hypoplastic ventricle, EP=Ebstein anomaly, Rhabdo+rhabdomyoma, TGA=transposition of great arteries

23 TOF Rhabdomyoma

24 VSD!

25 Ebstein anomaly with TR

26 All 19 of 21 patients in whom fetal echocardiography had shown CHD had completed their pregnancies.

27 Conclusions Our study shows that a common primary indication for fetal echocardiography during prenatal sonographic examination is an abnormal cardiac finding

28 Is more useful for identifying congenital heart disease than are other risk factors.

29 Detailed routine fetal echocardiography during routine prenatal ultrasound may result in further investigation and treatment

31 Fetal Echocardiography Indications Maternal Fetal Familial

32 metabolic disorders Fetal Echocardiography Maternal Indications insulin dependent diabetes (4-5%) PKU (15% if maternal phenylalanine is high) teratogen exposure thalidomide (10% if days post conception) lithium (~7%) alcohol (25% with fetal alcohol syndrome) anticonvulants isotretinoin maternal heart disease (5-10%) maternal autoantibodies/autoimmune (5-20%)

33 Fetal Echocardiography Fetal Indications general U/S suggestive of fetal heart defect fetal arrhythmia extracardiac defects chromosomal anomalies (includes abnormal MSS) structural lesions/potential syndromes and associations nonimmune hydrops (20-30%) large NT (>3.5mm)

34 Fetal Echocardiography Familial Indications Mendelian syndromes tuberous schlerosis Noonan syndrome DiGeorge syndrome Holt-Oram syndrome paternal heart disease previously affected child

35 Fetal Echocardiography Reason for Referral Among Affected Pregnancies Maternal disease (2%) Extracardiac defect (20%) Family hx (2%) Other (1%) Suspected cardiac defect on OB U/S (75%)

36 INDICATIONS OF FETAL ECHOCARDIOGRAPHY Indications of fetal echocardiography FETAL MAERNAL FAM ILIAL Maternal congenital (or familial) heart disease (1) risk dependent upon the specific lesion (Table) but in general 5-13% (2) cardiomyopathy - dependent upon the type of inheritance and age at presentation Obstetrical ultrasound suggesting fetal heart disease Obsterical ultrasound suggesting external cardiac disease in fetus Familal cardiompoathy most common A D inheritance for both hypertrophic and dilated forms Paternal congenital heart disease ( see table Menedelian syndromes maternal metabolic disorders (1)Type I or II DM (preconception) (a)not consistently linked to maternal hemoglobin A1c (c)d-tga, HLHS,TOF,, PAtr and TAtr (d)hcm (2)Phenylketonuria (a)left heart obstruction, TOF Teratogen exposure (1)Alcohol- ASD & VSD (2)Valproic acid - ASD & VSD, aortic and pulmonary valve obstruction, COA (3)Vitamin A derivatives - conotruncal abnormalities (4)Lithium - Ebstein's anomaly of the tricuspid valve Maternal autoimmune disease- (1)fetal atrioventricular heart block (typically presence after 17 weeks in mother with autoantibodies with or without clinical autoimmune disease) (2)fetal cardiomyopathy with endocardial fibroelastosis (1)Holt-Oram -AD -ASD & VSD, rece TBX5 gene also associated with H (2)DiGeorge syndrome (22q11.2 de - AD - conotruncal cardiovascula pathology (TOF, TA and IAA - typ (3)Noonan syndrome - AD - dyspla PV, PS, HCM (4)William syndrome - AD - SAS, P (5)Ellis van Creveld - AR - ASD & V AVSD

37 Fetal Indications VSD: Ventricuular septal defect,asd: atrial septal defect,tof: Tetralogy of fallot,dorv:double outlet right ventricle,avsd:atrioventricular septal defect,bav: B icuspid aortic valve,c OA:C oarctation of aorta,a S: aortic stenosis,h LH S: H ypoplastic left heart syndrome Obstetrical ultrasound suggesting fetal heart disease Obstetrical ultrasound suggesting extracardiac disease in the fetus Structural cardiac pathology : The indication has been shown to provide the highest yield for true fetal structural cardiac pathology Fetal dysrhythmia 1ectopy, 2bradycardia, 3 tachycardia Functional pathology Pregnancies at risk for fetal cardiov ascular compromise: Structural pathology inv olv ing other organ systems (a) renal dysgenesis (b)central nervous system pathology (e.g. dandy walker syndrome, hydrocephalus, agenesis of the corpus callosum) (c) Omphalocele (risk for both cardiac pathology and aneuploidy) 20-30% risk. VSD&ASD,TOF (d) diaphragmatic hernia % (e)duodenal atresia (f)esophageal tresia/tracheo-esophageal fistula (3)Findings suggestiv e of chromosomal abnormality/ aneuploidy or documented abnormal fetal karyotype: (a)trisomy 21 - VSD&ASDt, AVSD (50% ) (b)trisomy 18 - ASD&VSD, dysplastic atrioventricular and semilunar valves, TOF,D OR V with mitral atresia or stenosis (c)trisomy 13 -ASD&VSD, AVSD, TOF (d)turner syndrome BAV, COA,AS, HLHS (i)twin-twin transfusion syndrome (recipient twin) (ii)maternal infection associated with fetal myocarditis/cardiomyopathy :1.coxsackie 2.cytomegalovirus 3.parvovirus (iii)high output states 1Fetal arteriovenous malformations (e.g. sacrococcygeal teratoma, vein of Galen aneurysm, placental chorioangioma) 2.A genesis of the ductus venosus 3.fetal anemia hydrops fetalis or polyhydramnios: (the latter is a relative risk given that it can be associated with increased atrial pressures and atrial dilation) Increased nuchal translucency in the first trimester (+/- normal karyotype) (a)risk of aneuploidy (b)risk of fetal heart disease in the absence of aneuploidy 3-6% overall (c)risk for both aneuploidy and heart disease without aneuploidy exponentially increases with increased nuchal thickness

38 3D ECHO! Normal 4 Chamber View

39 Fetal Hydrops!

40 AVSD

42 Good bye for now!

echocardiography practice and try to determine the ability of each primary indication to identify congenital heart disease. Patients and Methods

echocardiography practice and try to determine the ability of each primary indication to identify congenital heart disease. Patients and Methods 29 ABNORMAL CARDIAC FINDINGS IN PRENATAL SONOGRAPHIC EXAMINATION: AN IMPORTANT INDICATION FOR FETAL ECHOCARDIOGRAPHY? RIMA SAMI BADER Aim: The present study was conducted to evaluate the most common indications