Prenatal diagnosis of Caudal Regression Syndrome : a case report

BACKGROUND: Caudal regression is a rare syndrome which has a spectrum of congenital malformations ranging from simple anal atresia to absence of sacral, lumbar and possibly lower thoracic vertebrae, to the most severe form which is known as sirenomelia. Maternal diabetes, genetic predisposition and vascular hypoperfusion have been suggested as possible causative factors. CASE PRESENTATION: We report a case of caudal regression syndrome diagnosed in utero at 22 weeks' of gestation. Prenatal ultrasound examination revealed a sudden interruption of the spine and "frog-like" position of lower limbs. Termination of pregnancy and autopsy findings confirmed the diagnosis. CONCLUSION: Prenatal ultrasonographic diagnosis of caudal regression syndrome is possible at 22 weeks' of gestation by ultrasound examination

Increased nuchal translucency with normal karyotype

Increased fetal nuchal translucency (NT) thickness between 11 and 14 weeks’ gestation is a common phenotypic expression of chromosomal abnormalities, including trisomy 21. However, even in the absence of aneuploidy, nuchal thickening is clinically relevant because it is associated with an increase in adverse perinatal Outcome caused by a variety of fetal malformations, dysplasias, deformations, dysruptions, and genetic syndromes. Once the presence of aneuploidy is ruled Out, the risk of perinatal Outcome close not statistically increase until the nuchal translucency measurement reaches 3.5 min or more (> 99th percentile). This increase in risk Occurs in an exponential fashion as the NT measurement increases. However, if the fetus survives until midgestation, and if a targeted ultrasound at 20 to 22 weeks fails to reveal any abnormalities, the risk of an adverse perinatal outcome and postriatal developmental delay is not statistically increased. (c) 2005 Elsevier Inc. All rights reserved