0000000000602923

AUTHOR

E Merz

Erhöht mütterliche Adipositas das Risiko für kindliche Fehlbildungen?

Aim To investigate the risk of congenital malformations for newborn of obese women (BMI > or = 30) compared with women of average prepregnancy weight. Methods We performed a prospective, population-based case-control study of 20,248 newborn born in the city of Mainz. A total of 1,451 infants (cases) with and 8,088 without congenital malformations (controls) were analysed. The relative risks of associations between obesity and malformations were calculated as odds ratios (OR) with 95% confidence intervals (CI). Results The prevalence of malformations in children of obese mothers is 11.1% and thus approximately 4% higher than those of the total study population. There is a significant odds ra…

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PRENATAL DIAGNOSIS OF X-LINKED SEVERE COMBINED IMMUNODEFICIENCY (SCID) BY FLOWCYTOMETRIC INVESTIGATION OF FETAL BLOOD

Prenatal diagnosis of SCID has until now been limited due to the inability of obtaining sufficient fetal blood volumes for immunological investigation. - We report the diagnosis of x-linked SCID at 19 weeks of gestation by using 200μl fetal blood for flowcytometrio evaluation. Amniocentesis was performed in the 17th week of pregnancy on a 36 year old woman with positive family history for X-linked SCID. chromosome analysis revealed a normal male caryotype. To confirm the suspected diagnosis of SCID a fetal blood sample was taken by puncturing the umbilical cord vein under sonographic control at 19 weeks of gestation. 300μl were used to perform chromosome analysis, the remaining 200μl were p…

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