These preliminary results suggest that abnormal ductus venosus blood flow in chromosomally normal fetuses with increased nuchal translucency identifies those with an underlying major cardiac defect.

The ultrasonographic measurement of nuchal translucency thickness at 10-13 weeks of gestation is accepted as an efficient method of screening for chromosomal abnormalities. However, the underlying mechanism producing increased nuchal translucency thickness is still poorly understood. The purpose of this study was to investigate the possible contribution of impaired cardiac function to such an increase, by studying the venous return in the ductus venosus, using Doppler ultrasound. In a total of 65 fetuses, nuchal translucency thickness was measured at 10-13 weeks of gestation by means of a transvaginal probe. Color-coded and pulsed Doppler ultrasound were also used to evaluate different hemodynamic parameters in the ductus venosus: maximum systolic and diastolic velocities, pulsatility index, lowest forward velocity during atrial contraction and fetal heart rate. Fetal nuchal translucency thickness of > or = 3 mm was found in 17 cases; in five of them there were chromosomal anomalies: four trisomy 21 and one trisomy 18. Of interest is the finding that in the five chromosomally abnormal fetuses with increased nuchal translucency thickness, the forward velocity during atrial contraction was consistently less than 2 cm/s (p < 0.001). This impairment of atrial contraction may well implicate cardiac failure and/or heart defects in the pathogenesis of increased nuchal translucency thickness in the first trimester of pregnancy. Furthermore, nuchal translucency may prove to be a sensitive marker for the early identification of fetal cardiac anomalies.

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This study aimed to assess the quality of life (QOL) experienced by adolescents and young adults with congenital heart disease (CHD) and to determine which factors negatively affect adjustment and which factors increase resilience. The participants in the study were 74 patients with CHD (41 males and 33 females) ranging in age from 12 to 26 years (mean age, 18.76 ± 3.86 years). Demographic information and a complete clinical history were obtained. The participants were interviewed regarding topics such as social support, family educational style, selfimage, and physical limitations. They responded to questions in a standardized psychiatric interview (SADS-L) and completed a self-report questionnaire (WHOQOL-BREF) for assessment of QOL. Compared with the Portuguese population as a whole, the study patients had better QOL, especially with regard to the environmental dimension (t = 3.754; P = 0.000) and social relationships (t = 2.333; P = 0.022). Patients who had undergone surgery experienced poorer QOL in the physical dimension (t = -1.989; P = 0.050), in social relationships (t = -2.012; P = 0.048) and overall (Mann-Whitney U = 563.000; P = 0.037). Social support played a positive role in the QOL of the patients, both in the physical dimension (t = 3.287; P = 0.002) and in social relationships (t = 3.669; P = 0.000). A higher school achievement also was associated with higher levels of QOL overall (Mann-Whitney U = 457.000; P = 0.046) as well as in the physical (t = 2.045; P = 0.045) and environmental (t = 2.413; P = 0.018) dimensions. Physical limitations had a detrimental impact on general QOL (Mann-Whitney U = 947.500; P = 0.001) and on the physical (t = -2.910; p = 0.005) and psychological (t = -2,046; P = 0.044) dimensions. Patients with CHD tended to perceive QOL as better when their social networks were supportive.