Syndromic associations with congenital anomalies of the fetal thorax and abdomen.
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.
Hurst
Jane
J
Oxford Radcliffe Hospitals NHS Trust, Oxford, UK. jane.hurst@orh.nhs.uk
Firth
Helen V
HV
Chitty
Lyn S
LS
D000005:Abdomen / Q000002:abnormalities*; D002869:Chromosome Aberrations; D005260:Female; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D013909:Thorax / Q000002:abnormalities*