Objective-To obtain normal M mode (one dimensional) echocardiographic values in a substantial sample of normal infants and children. Design-Data were obtained over three years from a single centre in central Europe. Patients-2036 healthy infants and children aged one day to 18 years. Methods-In line with recommendations for standardising measurements from M mode echocardiograms, and using digital echocardiographic equipment, measurements were obtained of the following: right ventricular anterior wall thickness at end diastole, right ventricular end diastolic dimension, thickness of interventricular septum at end diastole and end systole, thickness of posterior wall of the left ventricle at end diastole and end systole, left ventricular dimension at end diastole and end systole, pulmonary and aortic valve diameter, and left atrial dimension. Results-Measurements are presented graphically on centile charts with respect to body surface area, and as tables with mean and 2 SD values for newborns in relation to body weight, and for infants and children in relation to body surface area. Best fitting regression equations are given for each measured variable, using the 50th centile values. Conclusion-In comparison with previously published normal values, the presented charts and tables make it possible to judge echocardiographic measurements of a particular patient as normal or abnormal. (Heart 2000;83:667-672)

Prevalence rates of birth defects in the Federal Republic of Germany are informative to assess the general background risk of having a child with a birth defect. They provide basic figures to determine temporal and regional prevalence trends, to evaluate and initiate preventive measures and to initiate research projects. To avoid observer, definition and collection bias, active monitoring systems are required. Data collected in the active monitoring system of the Mainz Birth Defects Registry are presented. From 1990-1998, 30,940 live-births, stillbirths and abortions underwent standardized physical and sonographic examinations. Anamnestic data were collected from prenatal care records, maternity files and hospital records. Major malformations were diagnosed in 2144 (6.9%) and mild errors of morphogenesis in 11,104 (35.8%) of all infants. Risk factors associated with the occurrence of major malformations were identified by comparing anamnestic data from infants with and without major malformations. Using multivariate regression models, statistically significant associations were established for 9 risk factors. Causally related risk factors were parents or siblings with malformations, parental consanguinity, more than 3 minor errors of morphogenesis in the proband, maternal diabetes mellitus and ingestion of antiallergic drugs in the first trimester of pregnancy. Conjunctional risk factors were polyhydramnios, oligohydramnios and gestational age <32 weeks at birth. Using these risk factors, populations at risk for the occurrence of major malformation can be identified.

Maternal medication during the first trimester of pregnancy has been discussed as a risk factor for development of birth defects. The correlation between maternal drug use and major malformations was investigated in a population-based case-control study in Mainz. Over a period of 5 years (1990-1994), 20,248 livebirths, stillbirths, and abortions underwent physical and sonographic examination, and anamnestic data were collected. A total of 1,472 births with congenital anomalies (cases) and 9,682 births without major and minor malformations (controls) were analyzed. We distinguished between 30 different drug categories, which were divided into medication taken continuously (before and during pregnancy; CM) and acute medication (drugs given within the first 3 months of gravidity; AM). Statistically highly-significant results [CM: Odds Ratios (OR) 1.2, Confidence Intervals (CI) 1.1-1.4, P = 0.008; AM: OR 1.2, CI 1.1-1.3, P = 0.008] were established for maternal drug use in correlation to birth defects. For the majority of combinations between drugs and specific malformations no teratogenic risks were found. However, statistically significant associations were recorded for antiallergics and heart anomalies (CM, AM) as well as musculoskeletal anomalies (AM); for bronchodilators and heart anomalies (CM, AM); for antiepileptics and anomalies of the internal urogenital system (CM), as well as cleft palate/cleft lips (AM); for thyroid hormones and anomalies of the nervous system (CM, AM), as well as anomalies of the external urogenital system (CM, AM); for insulin and anomalies of the musculoskeletal system (CM); for digitalis and anomalies of the musculoskeletal system (AM).

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