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1.  VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis 
Clinical dysmorphology  2012;21(4):191-195.
The VATER/VACTERL association is typically defined by the presence of at least three of the following congenital malformations: vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. The identification of 14 twin pairs with an initial diagnosis of VATER/VACTERL association at our clinical centers led to the performance of a classical twin study. This involved a thorough evaluation of these 14 twin pairs and a further 55 twin pairs identified from a systematic review of the literature. The zygosity, concordance, and malformation status of all 69 twin pairs were evaluated. Twenty-four twin pairs fulfilled the criteria for inclusion in a comparison of the concordance rates between monozygous (MZ) and dizygous (DZ) twin pairs. The pairwise concordance rates were 15% [95% confidence interval (CI) 4–42%] for MZ and 18% (95% CI 5–48%) for DZ twin pairs (P = 0.53). The probandwise concordance rates were 27% (95% CI 11–52%) for MZ and 31% (95% CI 13–58%) for DZ twin pairs (P= 0.40). Although based on a limited number of twin pairs, the findings of the present study are consistent with the low number of familial cases reported to date, and suggest that the role of inherited genetic factors in the majority of VATER/VACTERL cases is limited.
PMCID: PMC4126840  PMID: 22895008
concordant; discordant; dizygous; monozygous; twin study; VACTERL association
2.  Fetal Renal Insufficiency Following Trastuzumab Treatment for Breast Cancer in Pregnancy: Case Report und Review of the Current Literature 
Breast Care  2011;6(6):475-478.
Some drugs are known for their fetal nephrotoxicity and should be avoided during pregnancy. We report on a pregnant woman suffering from breast cancer who received a weekly neoadjuvant trastuzumab (Herceptin®) therapy from 15 weeks of gestation onward, in addition to a 3-weekly carboplatin/docetaxel chemotherapy. Fetal renal insufficiency with anhydramnios and missing visualization of the fetal bladder developed at 21 weeks. After discontinuation of trastuzumab and repeated instillation of amniotic fluid, the amount of amniotic fluid remained stable after 24 weeks of gestation. After caesarean section at 34 weeks because of fetal growth restriction, the renal function of the neonate was normal postnatally. In accordance with the current literature, our case shows a reversible adverse effect of trastuzumab on the fetal renal function and confirms the current recommendation that trastuzumab in pregnancy should be avoided. In pregnancies exposed to trastuzumab, treatment should be discontinued and the fetus should be closely monitored, with particular attention to the amniotic fluid and the fetal bladder volume, as these reflect fetal renal function.
PMCID: PMC3290009  PMID: 22419904
Fetus; Renal insufficiency; Trastuzumab; Breast cancer; Pregnancy

Results 1-2 (2)