A. Tartaglione

The association between congenital heart disease and Down syndrome in prenatal life.

Objective To assess the relationship between congenital heart disease (CHD) and Down syndrome (DS) in utero.

The role of tissue harmonic imaging in fetal echocardiography

To define the role of tissue harmonic imaging (THI) in fetal echocardiography.

Prenatal ultrasound diagnosis of Nager syndrome

Nager syndrome, or acrofacial dysostosis, is a rare malformation complex characterized by facial anomalies (external ear abnormalities and micrognathia) and limb defects (radial hypoplasia and absence of the thumb and/or other digits). Since its first description in 1948, more than 80 cases have been reported in the pediatric literature. However, there is only one previous report on the prenatal recognition of the syndrome, which was at 30 weeks of gestation. We report here a further case of Nager syndrome, prospectively diagnosed at 23 weeks of gestation. Copyright

Changing spectrum and outcome of 705 fetal congenital heart disease cases: 12 years, experience in a third-level center

Introduction Congenital heart diseases are the most common prenatal and postnatal malformations. Nowadays, fetal echocardiography is a widely practiced technique; however, the impact of prenatal diagnosis on prognosis of the newborns affected by congenital heart disease remains uncertain. Objective To assess the outcome and the changes in the spectrum of prenatally detected congenital heart disease in our tertiary care centre in 12 years of activity (1995–2006). Methods and results We detected 705 congenital heart diseases: 32% (223) were associated with extracardiac or chromosomal anomalies or both, and 68% (482) were isolated. Termination of pregnancy was chosen in 81% for associated anomalies and 37% for isolated anomalies (P < 0.001). Of these, more than one-third occurred in hypoplasic left heart cases. The general survival rate was 72%; it was significantly lower in the group with associated heart diseases (46 vs. 80%, P < 0.001). Over 12 years we noticed a reduction in the number of multimalformed fetuses and of the hypoplasic left heart cases, and a higher number of aortic arch anomalies detected. During the past 6 years of activity the survival rate obtained has significantly increased (55 to 84%, P < 0.05), the termination rate has significantly decreased (35 to 14%, P < 0.001) and the number of neonatal deaths has significantly decreased (39 to 10%, P < 0.001). Conclusion The survival and the voluntary termination of fetuses with prenatally detected congenital heart diseases are strongly influenced by disease severity and by associated extracardiac or chromosomal anomalies, or both. Over 12 years, the spectrum of fetal congenital heart disease has changed and their outcome has significantly improved.

Prenatal findings in trisomy 16q of paternal origin.

A 34‐year‐old pregnant woman was referred at 30 weeks of gestation with suspected fetal congenital heart disease. On prenatal ultrasound the following anomalies were detected: intra‐uterine growth retardation, micrognathia, coarctation of the aorta with ventricular and atrial septal defects, ambiguous external genitalia, and clinodactyly of one hand with adducted thumb. Prenatal karyotyping was offered but refused by the patient. The fetus was delivered by Caesarean section due to fetal distress at 36 weeks of gestation. The neonate, weighing 2150 g was transferred to the neonatal intensive care unit, where he died 10 days later. The karyotype from peripheral blood lymphocytes was 46,XY+der(20)t(16;20)(q12.1;p13)pat. The maternal karyotype was unremarkable, whereas the father had the translocation t(16;20)(q12.1;p13). Necropsy confirmed all the prenatal findings. These are discussed together with the implications of the chromosomal diagnosis and the pertinent literature is reviewed. Copyright

OC227: Fetal congenital heart disease in multiple pregnancy. The diagnostic performance of fetal echocardiography in a series of 248 cases

Objectives: 1) To assess the accuracy of fetal echocardiography in multiple pregnancy, and 2) To evaluate the type of congenital heart disease (CHD) and of extracardiac anomalies detected in 36 cases of multiple pregnancy. Method: We analysed a population of 248 pregnancies (546 fetuses, 39 with CHD). Diagnostic accuracy was calculated for fetal echocardiography. In fetuses with CHD, the following variables were analysed: chorionicity, gestational age at diagnosis, type of CHD, associated chromosomal and extracardiac abnormalities, fetoneonatal outcome. Results: In this series, sensitivity was 88.8%, specificity 99.8%, PPV 97.1% and NPV 99.1%. There were 4 FP and 1 FN cases. The association with aneuploidy was 9.3% (3/32). The spectrum of CHD was similar to that seen in singleton during the same period of time. Of note, that 8/32 (25.0%) fetuses with CHD were recipients from monochorionic pregnancies complicated by TTTS. As for the outcome, 21 (65.6%) neonates survived and 11 (34.4%) died prior to (9) or after surgery (2). Conclusions: Fetal echocardiography is clearly feasible also in multiple pregnancy without particular difficulties, at least for twins. In triplets and quadruplets, fetal crowding makes things a great deal more difficult. The association with aneuploidy is lower than expected, possibly due to the low incidence of extracardiac anomalies in this series and to the relatively small number of cases. As to the outcome, low birthweight coupled with CHD seem to be an important bad prognostic indicator, be it for growth restriction or simply prematurity.