Syndromic associations with congenital anomalies of the fetal thorax and abdomen

Abstract

Anomalies of the thorax and abdomen can be found in a number of genetic syndromes. Whilst it may not be possible to make a definitive diagnosis before birth, knowledge of the potential associations can be useful for the prenatal diagnostician when examining the fetus and counselling the parents. In this article, we describe conditions where other features may be detectable using prenatal ultrasound. We describe the features, potential diagnostic aids and prognosis. The tables list other potential features that may be identified. The range of conditions that can occur emphasises the value of genetic input in the management of a fetus with an apparently normal karyotype and multiple anomalies, the need to save material for future molecular analysis and the requirement of a detailed examination after delivery. These are needed in order to make accurate diagnoses and advise parents with regard to recurrence risks and the potential for prenatal diagnosis in future pregnancies.

Management of a Giant Omphalocele with Non–Cross-Linked Intact Porcine-Derived Acellular Dermal Matrix (Strattice) Combined with Vacuum Therapy

“…Omphaloceles are often associated with other malformations and chromosomal anomalies. 1 2 The small chromosome 3 deletion in this case (1) is to our best knowledge (based on queries in PubMed database and Decipher database) not known to be associated with omphalocele, (2) contains no genes explicitly associated with omphalocele, 3 and (3) was inherited from a healthy mother. 4 Therefore, this deletion was considered to be most likely of neutral effect.…”

The Fetal Thorax

“…There are distinctive craniofacial features (microbrachycephaly, depressed nasal bridge with anteverted nares, long smooth overhanging philtrum and micrognathia) which may be recognized with prenatal ultrasound and are clearly seen at birth. 34 Maternal serum pregnancy associated plasma protein-A is reported to be significantly reduced in de Lange syndrome.…”

“…The classic features are a combination of cryptophthalmos, laryngeal stenosis, syndactyly, renal agenesis, and genital abnormalities (fused labia and enlarged clitoris). 34 It is now recognized that not all infants with Fraser syndrome have cryptophalmos. Some authors observed pulmonary hyperplasia and laryngeal stenosis in two siblings with Fraser syndrome.…”

Fetal Lung Surgery

“…XY karyotype in a phenotypic female with a diaphragmatic hernia would suggest one of these conditions. Denys-Drash, Frasier and Meacham syndromes are all caused by mutations in WT1, but WAGR is a microdeletion syndrome requiring specific fluorescence in situ hybridization (FISH) analysis 86. • Donnai-Barrow syndrome is caused by mutations in the gene LRP2…”