Universität zu Köln

Zwink, N., Choinitzki, V., Baudisch, F., Hoelscher, A., Boemers, T. M., Turial, S., Kurz, R., Heydweiller, A., Keppler, K., Mueller, A., Bagci, S., Pauly, M., Brokmeier, U., Leutner, A., Degenhardt, P., Schmiedeke, E., Maerzheuser, S., Grasshoff-Derr, S., Holland-Cunz, S., Palta, M., Schaefer, M., Ure, B. M., Lacher, M., Noethen, M. M., Schumacher, J., Jenetzky, E. and Reutter, H. (2016). Comparison of environmental risk factors for esophageal atresia, anorectal malformations, and the combined phenotype in 263 German families. Dis. Esophagus, 29 (8). S. 1032 - 1043. CARY: OXFORD UNIV PRESS INC. ISSN 1442-2050

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Abstract

Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) and anorectal malformations (ARM) represent the severe ends of the fore- and hindgut malformation spectra. Previous research suggests that environmental factors are implicated in their etiology. These risk factors might indicate the influence of specific etiological mechanisms on distinct developmental processes (e.g. fore- vs. hindgut malformation). The present study compared environmental factors in patients with isolated EA/TEF, isolated ARM, and the combined phenotype during the periconceptional period and the first trimester of pregnancy in order to investigate the hypothesis that fore- and hindgut malformations involve differing environmental factors. Patients with isolated EA/TEF (n = 98), isolated ARM (n = 123), and the combined phenotype (n = 42) were included. Families were recruited within the context of two German multicenter studies of the genetic and environmental causes of EA/TEF (great consortium) and ARM (CURE-Net). Exposures of interest were ascertained using an epidemiological questionnaire. Chi-square, Fisher's exact, and Mann-Whitney U-tests were used to assess differences between the three phenotypes. Newborns with isolated EA/TEF and the combined phenotype had significantly lower birth weights than newborns with isolated ARM (P = 0.001 and P < 0.0001, respectively). Mothers of isolated EA/TEF consumed more alcohol periconceptional (80%) than mothers of isolated ARM or the combined phenotype (each 67%). Parental smoking (P = 0.003) and artificial reproductive techniques (P = 0.03) were associated with isolated ARM. Unexpectedly, maternal periconceptional multivitamin supplementation was most frequent among patients with the most severe form of disorder, i.e. the combined phenotype (19%). Significant differences in birth weight were apparent between the three phenotype groups. This might be attributable to the limited ability of EA/TEF fetuses to swallow amniotic fluid, thus depriving them of its nutritive properties. Furthermore, the present data suggest that fore- and hindgut malformations involve differing environmental factors. Maternal periconceptional multivitamin supplementation was highest among patients with the combined phenotype. This latter finding is contrary to expectation, and warrants further analysis in large prospective epidemiological studies.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Zwink, N. UNSPECIFIED UNSPECIFIED UNSPECIFIED Choinitzki, V. UNSPECIFIED UNSPECIFIED UNSPECIFIED Baudisch, F. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hoelscher, A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Boemers, T. M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Turial, S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Kurz, R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Heydweiller, A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Keppler, K. UNSPECIFIED UNSPECIFIED UNSPECIFIED Mueller, A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Bagci, S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Pauly, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Brokmeier, U. UNSPECIFIED UNSPECIFIED UNSPECIFIED Leutner, A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Degenhardt, P. UNSPECIFIED UNSPECIFIED UNSPECIFIED Schmiedeke, E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Maerzheuser, S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Grasshoff-Derr, S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Holland-Cunz, S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Palta, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Schaefer, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Ure, B. M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lacher, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Noethen, M. M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Schumacher, J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Jenetzky, E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Reutter, H. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-256367
DOI:	10.1111/dote.12431
Journal or Publication Title:	Dis. Esophagus
Volume:	29
Number:	8
Page Range:	S. 1032 - 1043
Date:	2016
Publisher:	OXFORD UNIV PRESS INC
Place of Publication:	CARY
ISSN:	1442-2050
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language TRACHEOESOPHAGEAL FISTULA; CONGENITAL-MALFORMATIONS; BIRTH-DEFECTS; ANAL ATRESIA; ANOMALIES; PREGNANCY; EXPOSURE; CHILDREN; TWINS; EPIDEMIOLOGY Multiple languages Gastroenterology & Hepatology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/25636