█ CAPÍTULO 9
9.1 DESCRIPCIÓN DE LOS PARÁMETROS GRÁFICOS
Prenatal detection of the transposition of the great arteries would be of particular importance, since an improvement of long-term prognosis and mortality rates can be expected from prenatal diagnosis and the optimization of perinatal management. Furthermore, ventricular septal defects of the outflow tract, double outlet right ventricle, tetralogy of Fallot, and truncus arteriosus communis are common cardiac anomalies, found in the majority of fetuses with trisomies 13 and 18. These defects can be diagnosed
screening can be attained only with further improvement in the level of expertise of all persons involved in screen-ing; this can be achieved by permanent training and liaison between the screening examiner and the specialized refer-ral center. For all high-risk patients, early fetal echocar-diography should be offered at 13 – 14 weeks of gestation followed by an additional echocardiographic examination at 20 – 22 weeks of gestation at specialized centers. By achieving detection of serious CHD earlier in fetal life, termination of an abnormal fetus is more acceptable. In this context the increased thickness of nuchal translucency at 11 – 14 weeks of gestation seems to be an important marker for CHD even in chromosomally normal fetuses ( Table 9.10 ). On the other hand, prenatal diagnosis of congenital heart defects with adequate perinatal manage-ment has been shown to improve the short- and long-term outcome for critical heart defects, in particular for the dextrotransposition of the great arteries and hypoplastic left heart.
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Conclusions
Many reasons stated above make the prenatal diagnosis of as many cardiac anomalies as possible desirable from the viewpoint of the perinatologist and the perinatal cardiolo-gist. In particular, an improvement of postnatal outcome could be demonstrated for some subgroups of cardiac defects. Therefore, detailed fetal echocardiography should be performed in all high-risk pregnancies such as those with a positive family history for cardiac defects, with maternal diabetes, and with already detected cardiovascu-lar and extracardiac fetal anomalies ( Table 9.10 ). As nearly 90 % of all pregnancies with fetuses identified as having a cardiac anomaly are not initially considered to be at increased risk, and as customary prenatal sonograms almost always miss an isolated cardiac defect, adequate detection of cardiac anomalies can be achieved only by cardiac screening of all fetuses in the second trimester coupled with referral of women with affected fetuses to centers with specialist cardiac experience. Demonstration of the four-chamber view allows the detection of 40 – 50 % of congenital cardiac anomalies in a low-risk group of patients. Additional visualization of the outflow tracts and the great arteries increases the rate to 65 – 70 % and includes all critical cardiac defects, especially transposition of the great arteries. Current ultrasonographic technology is sufficient for this purpose. However, general cardiac screening performed by many different examiners of vary-ing experience results in detection rates that fall far below the potential. The full potential of fetal echocardiographic
Table 9.10 Yield of CHD by indication for fetal echocardiography. Based on the combined data of references 5 , 56 , 144 , and 145
Indication Referrals CHD Prevalence/1000 for indication
Family history of CHD 2374 (26.2 % ) 23 (2.9 % ) 9.7
Maternal diabetes 1442 (16.0 % ) 20 (2.6 % ) 14
Teratogen exposure 666 (7.4 % ) 1 (0.1 % ) 1.5
Unsatisfactory/abnormal cardiac views 959 (10.6 % ) 453 (56.7 % ) 472
Arrhythmia 1391 (15.4 % ) 22 (2.7 % ) 16
Extracardiac anomalies including hydrops 1511 (16.7 % ) 230 (28.8 % ) 152
Intracardiac echogenic focus 243 (2.7 % ) 1 (0.1 % ) 4
Aneuploidy 344 (3.8 % ) 42 (5.2 % ) 122
Increased nuchal translucency with normal karyotype 105 (1.2 % ) 7 (0.9 % ) 67
Total 9035 799 88
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