Risk-factors-for-CHD(先天性心脏病危险因素)PPT格式课件下载.pptx

1、Risk Factors for CHD-Indications for Fetal Echo RevisitedAmy Svenson,MDDivision of Pediatric CardiologyArizona Pediatric Cardiology ConsultantsPhoenix Childrens HospitalPhoenix,ArizonaNoneScreening for CHDCongenital heart disease continues to be the most common congenital malformation,at a rate of 8

2、/1,000 live births.Most cardiac defects are screened for on the routine 18-20 week anatomy scan by the OB,but the rates of detection of CHD remain lowAt 20 weeks gestation,the fetal heart is a little bigger than the size of a quarterScreening for CHDCardiac anomalies are among the most frequently mi

3、ssed congenital malformations and rely heavily on the expertise of those performing the examThose specialized physicians performing and interpreting detailed fetal echocardiograms can detect nearly all cases of CHD,but they are a very limited resourceThus,much research has gone into identifying mark

4、ers for CHD outside of the detailed fetal echocardiogram Screening for CHDMaternal patients may be referred for a detailed fetal echocardiogram by a qualified specialist if:#the basic screening ultrasound is abnormalConcern for structural heart defectConcern for abnormal heart rhythm there is a reco

5、gnized risk factor that raises the likelihood of congenital heart disease beyond what is expected in the low risk populationWhich patients are considered to be at increased risk and thus should be referred for a detailed fetal echocardiogram?#Fetal indicationssuspected cardiac anomaly or abnormal ca

6、rdiac axis incomplete cardiac evaluation on OB screening ultrasoundUnexplained polyhydramnioschromosomal abnormalities extracardiac abnormalities Arrhythmias（50%of fetuses with CHB have complex CHD）non-immune fetal hydrops（15-20%are of cardiac etiology）increased nuchal translucencyMonochorionic twin

7、s Maternal indicationsMaternal metabolic disordersPre-gestational diabetes or early onset diabetes during pregnancy6-10%congenital malformation rate,of which 40-50%are cardiacStructural defects（TGA,DORV,VSD,heterotaxy syndrome）Hypertrophic cardiomyopathy（late 2nd or 3rd trimester）Maternal PKU（7 fold

8、 increase in CHD）Maternal indicationsAutoantibodies（anti-Ro/SSA and anti-La/SSB）associated with Sjogren syndrome（40-95%）and SLE（15-35%）1-2%risk of complete heart blockRecurrence risk of 15-20%Pregnancies conceived with assisted reproductive technology（ART）Exposure to known teratogens or certain medi

9、cationsFamilial indicationsFamily history of CHD in a first degree relative 2-3%recurrence risk if a sibling has CHD2%recurrence risk if dad has CHD5-10%recurrence risk if mom has CHDLeft heart obstructive lesions appear to have a higher recurrence risk Familial IndicationsInheritable genetic syndro

10、meTuberous sclerosis（intracardiac tumors）Marfan syndrome（AV valve abnormalities,dilated root,CM）Ellis-van Creveld syndrome（AV canal,coarc,HLHS）Noonan syndrome（pulmonary stenosis,HCM）DiGeorge/velocardiofacial syndrome（TOF,IAA,truncus arteriosus）Maternal LQTSAPCC experience*Database collected and mana

11、ged by Lynn Litwinowich,APCC fetal nurse coordinator,from January 2011 to January 2014Assisted Reproductive TechnologyARTFertility related services（artificial insemination,inductors of ovulation）Removal of a womans eggs from her body,“mixing”them with sperm to make an embryo,and then reintroduce the

12、m to the womans bodyIn vitro fertilization/IVF（1978）Intracytoplasmic sperm injection/ICSI（1992）Represents 1%to 4%of births in developed countriesARTFirst infant born to ART was over 30 years ago（1978）CDC started collecting data on ART in the US in1996National data from the CDC on ART in 2010:#147,26

13、0 total ART procedures47,090 live births=61,564 infantsART contributed to 1.5%of all US live births in 2010ART contributed to 20%of all multiple births46%of infants conceived with ART are multiplesARTThe majority of the more recent population based studies do show a statistically significant increas

14、e in birth defects in pregnancies utilizing ART versus natural pregnancies.Is this increased risk due to the ART protocols themselves or the underlying disturbance leading to a couples infertility?#There are few studies looking at the relationship of specific birth defects and ART ART and the risk o

15、f CHDTarabit,K.et al.,Euro Heart J,2011 Utilizing the Paris Registry of Congenital MalformationsCompared exposure to ART between cases of CHD vs.other malformations in chromosomally normal infants（picked malformations that have not be previously reported to be associated with ART）4.7%of children bor

16、n with CHD versus 3.6%of children born with a different malformation（p=0.008）were exposed to ART40%increase in the overall risk of CHD without chromosomal abnormalities in children conceived following ART after taking into account maternal age,socioeconomic factors,and year of birthART and the risk of CHDSpecific types of CHD were more commonly found in children exposed to ART（IVF and ICSI）including:#Malformations of the outflow tractsAbnormalities of the ventricular-arterial connectionsDouble outlet