Screening for heart defects in the first trimesterDocument Transcript
Ultrasound Obstet Gynecol 2010; 36: 658–660Published online in Wiley Online Library (wileyonlinelibrary.com). DOI: 10.1002/uog.8874OpinionScreening for heart defects in the ﬁrst trimester of pregnancy: food for thoughtI would like to start this Opinion by exercising the rights (one unbalanced, one associated with isomerism) and oneof a chairperson and going beyond the Editor-in-Chief’s with tetralogy of Fallot.request for me to comment on two papers in this issue The conclusion that followed was an obvious one: it isof the Journal that deal with the fetal heart in the ﬁrst possible to measure the cardiac axis in early pregnancytrimester of pregnancy1,2 . I do so in order to acknowledge and this may help to identify pregnancies at risk ofProfessor Yves Ville’s immense support for me to perform CHD. But, in the context of screening, is it really thatearly fetal echocardiography when we worked together simple or do we have some ‘food for thought’ here?many years ago3 , as well as to recognize his early vision Whilst the authors report that the four-chamber viewabout the importance of performing (transabdominal) was imaged in all cases, it is of note that women withﬁrst-trimester cardiac scans in high-risk pregnancies, at a a body mass index (BMI) ≥ 30 were excluded from thetime when this was not common practice, but innovative. study and nearly one in ﬁve cases (19%) required aTo stress his enthusiasm in this important area of fetal combined transabdominal–transvaginal approach. Thus,medicine is for me a ‘must do’ in this Opinion, but it is for screening purposes, it may be somewhat premature toalso a pleasure to write about ﬁrst-trimester cardiac scans extrapolate the ﬁndings of this study to a large low-riskin Yves’s last issue as Editor-in-Chief of Ultrasound in population that includes women with BMI ≥ 30 and inObstetrics & Gynecology. an environment where it may be less practical to perform I should also acknowledge that highly-skilled obstetri- transvaginal scans in nearly a ﬁfth of cases. Previouscians have been performing (transvaginal) ﬁrst-trimester investigators have shown high BMI and small fetal size tofetal echo since the beginning of the 1990s4 – 15 , before have a negative impact on success rates of ﬁrst-trimestercardiologists became interested in the fetal heart in early scans16,17 . Timmerman and colleagues2 , on the other hand, aimedpregnancy. However, use of the transabdominal route for at reﬁning risk assessment to improve prediction of CHDearly scans3 and the ever improving ultrasound resolution over and above that associated with an increased nuchalover the years has not only made it possible for cardiolo- translucency thickness (NT) in chromosomally normalgists to explore the small ﬁrst-trimester fetal heart but has fetuses. In a retrospective study of nearly 800 fetuses, theyalso paved the way for sonographers, radiographers and explored the added predictive value of an abnormal ductusother professionals to incorporate basic cardiac views into venosus pulsatility index (DV-PIV, above the 95th centile)the routine 11 to 13 + 6-week scan. This has obviously and abnormal a-wave (consistently absent or reversed).shifted interest in early fetal echo from accurate diagnosis Cardiac defects were present in 35 fetuses, 26 with majorto screening low-risk pregnancies. forms of CHD. An abnormal DV-PIV in the context of ‘Business as usual’ – I must now return to my task and increased NT and normal karyotype conferred a three-comment on the two papers in this issue of the Journal. fold increase in risk whereas an abnormal a-wave did notThe studies of Sinkovskaya et al.1 and Timmerman et al.2 add to the prediction following correction for DV-PIV.are both concerned with screening for major congenital The sensitivity and speciﬁcity of DV-PIV for major CHDheart disease (CHD) in early pregnancy. Yet they explore were 71% and 61%, respectively. While this approachdifferent aspects of screening. is important to streamline referrals so that the limited Sinkovskaya and colleagues1 measured the cardiac axis resources (in this case, availability of diagnostic earlyon the four-chamber view in a prospective study of 100 fetal echocardiography) can be allocated to those familiesconsecutive women scanned at 11 + 0 to 14 + 6 weeks of who are at the highest risk, obtaining a technically goodgestation. Additionally, the outﬂow tracts were imaged DV Doppler signal may not be so straightforward18 ,and targeted fetal echocardiography was performed later bringing into question its widespread use for screeningin the second trimester. In early pregnancy, the mean low-risk pregnancies. Factors such as the learning curve19 ,value for the cardiac axis, based on 94 fetuses with no observer variability and reproducibility of the signal20 – 22cardiac abnormalities, was approximately 47◦ with limits may have a negative impact on its potential utility as aof normality set between 35◦ and 60◦ . The four-chamber method of screening for CHD worldwide, as highlightedview was seen in all cases and there was good interobserver by the authors.reproducibility. An abnormal axis was seen in four of the This study also offers more food for thought in that,six cases with CHD (of which three showed a structurally of all cases of CHD which had fetal cardiac scansabnormal four-chamber view): one with hypoplastic left and required postnatal intervention, half were false-heart syndrome, two with atrioventricular septal defects negative cases. Excluding those with a patent arterialCopyright 2010 ISUOG. Published by John Wiley & Sons, Ltd. OPINION
Opinion 659duct and a secundum atrial septal defect, 12 children To conclude, identifying cases at risk of CHD in thehad cardiac intervention and six were thought to have ﬁrst and early second trimesters of pregnancy poses‘no anomalies’ on fetal scans2 . The reasons behind this two important questions: how soon can early fetalﬁnding are unclear. While it is well known that certain echocardiography be offered to families so that thecardiac defects evolve during pregnancy and may not be diagnosis of normality or abnormality can be made, andamenable to diagnosis prenatally23 , an abnormality of how accurately can this be achieved?the atrioventricular connection such as tricuspid atresiacan (and should?) indeed be diagnosed if a cardiac J. S. Carvalhoscan is performed. In one additional case, the diagnosis Fetal & Paediatric Cardiology, Royal Brompton &of atrioventricular and ventriculoarterial discordance St George’s Hospitals and Fetal Cardiology, St George’swas made postnatally. The ISUOG consensus statement University of London, London, UKregarding ‘What constitutes a fetal echocardiogram’24 (e-mail: email@example.com)reﬂects the need for a multidisciplinary approach to fetalcardiac scans, which should involve cardiologists and REFERENCESobstetricians alike. Of relevance to both these studies and of utmost 1. Sinkovskaya E, Horton S, Berkley EM, Cooper JK, Indika SS, Abuhamad A. Deﬁning the fetal cardiac axis between 11 + 0importance to early screening for CHD in general and 14 + 6 weeks of gestation: experience with 100 consecutiveis: how soon after identifying markers in the general pregnancies. Ultrasound Obstet Gynecol 2010; 36: 676–681.population, prior to 14 weeks of gestation, are we 2. Timmerman E, Clur SA, Pajkrt E, Bilardo CM. First-trimesterable to refer the pregnant woman for diagnostic fetal measurement of the ductus venosus pulsatility index andechocardiography? This question goes beyond the studies the prediction of congenital heart defects. 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