Malformations in newborn: results based on 30940 infants and fetuses from the Mainz congenital birth defect monitoring system (1990-1998)

Abstract

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.

Impact of assisted reproduction treatments on Spanish newborns: report of 14,119 pregnancies

“…Conclusions might depend on the number of cases observed. When analyzing a smaller sample some have found a significantly higher malformation rate in multiple compared with singleton pregnancies (1,139 infants; [36]), while differences are not observed with bigger samples (German IVF Registry from 2001, 30 000 pregnancies; [23,28]). The Japanese national data (2004)(2005)(2006)(2007)(2008) show a higher percentage of birth defects in multiples if analysed per pregnancy, but not if the analysis is per live birth (25).…”

Hepatocyte Nuclear Factor 1β–Associated Kidney Disease

“…Among anomalies found at prenatal screening, CAKUT is present in 20%-30% of the cases. 13,14 Renal function ranges from normal to ESRD, but most patients have some degree of impaired kidney function. Urine analysis in general shows no cells and a proteinuria of ,1 g/24 h. Occasionally, renal biopsies are performed in patients that do not present with CAKUT, with the histologic diagnosis often being variable and nonspecific.…”

Familieplanlegging, graviditet og amming ved multippel sklerose

“…For fingolimod er det publisert data for 66 svangerskap der fosteret ble eksponert in utero (28). Fem av disse hadde unormal utvikling, inkludert et barn med akrani, som døde to dager etter fødselen.…”