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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Increased fetal nuchal translucency thickness at 10-14 weeks of gestation is a common phenotypic expression of fetal chromosomal defects, structural abnormalities and genetic syndromes. This study reports on the prevalence of structural abnormalities and genetic syndromes in 4116 chromosomally normal pregnancies with increased fetal nuchal translucency thickness and reviews the relevant literature. In fetuses with increased nuchal translucency thickness, the prevalence of major cardiac defects, diaphragmatic hernia, exomphalos, body stalk anomaly and fetal akinesia deformation sequence is substantially higher than expected in the general population. In addition, there may be an association between increased nuchal translucency thickness and a wide range of rare skeletal dysplasias and genetic syndromes that are usually found in less than one in 10,000 pregnancies; however, the number of affected cases, both in the present and in previous series of fetuses with increased nuchal translucency thickness, is too small for definite conclusions to be drawn. The rates of miscarriage and perinatal death increase, whereas the rate of survival and the prevalence of live births with no obvious abnormalities decrease with increasing nuchal translucency thickness.
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PMID:Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10-14 weeks of gestation. 967 83

The Museum Vrolik collection of the Department of Anatomy and Embryology of the Academic Medical Center, University of Amsterdam, founded by Gerardus Vrolik (1775-1859) and his son Willem Vrolik (1801-1863), consists of more than 5,000 specimens of human and animal anatomy, embryology, pathology, and congenital anomalies. Recently, the collection of congenital anomalies, comprising 360 specimens, was recatalogued and redescribed according to contemporary morphogenetic views. The original descriptions, if preserved, were compared with the clinical, radiographical, and magnetic resonance imaging findings. In 120 specimens the following midline anomalies, primary field defects, and sequences were diagnosed: holoprosencephaly sequence; aprosencephaly/atelencephaly; cleft lip; Pierre Robin sequence; omphalocele; diaphragmatic hernia; ectopic heart; bladder exstrophy; cloacal exstrophy; caudal dysgenesis; prune belly sequence; sirenomelia; fetal akinesia sequence; and disruption sequences. Polytopic field defects and associations were diagnosed in 25 specimens. We discuss the opinions of Gerardus and Willem Vrolik, who tried to find reasonable explanations for the dysmorphogenetic entities they investigated, rather than accepting the traditional superstitions.
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PMID:Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. III: primary field defects, sequences, and other complex anomalies. 980 Sep 11