Screening for XXXX .

@entity1592 @entity74 @entity4218 @entity1779
INTRODUCTION: @entity1779 can be genetically determined and/or part of complex syndromes. When the defect is detected during pregnancy, it important to rule out an associated @entity74 . Family history and detailed examination of fetal anatomy are needed. DISCUSSION: @entity1592 , as well as @entity4218 (especially polydactyly) are strong indicators of a @entity74 in the context of a fetal @entity1779 . A standard chromosomal analysis is needed in all cases. Fluorescent in situ hybridization (FISH) techniques using locus-specific probes that permit the detection of subtle chromosomal rearrangements and metabolic analyses may be indicated when a specific condition is suspected. As for molecular analyses, they have so far been mainly applicable to pregnancies at risk of a known disorder because of family history. The diagnosis consists of determining whether the fetus has inherited the causative mutation identified in the index case. When termination of pregnancy is elicited, a careful prenatal and postnatal examination is needed in order to give accurate genetic counseling for further pregnancies. Storage of fetal material allowing further molecular analyses is strongly recommended.
