Spondylothoracic dysplasia: Prenatal diagnosis and the problems of nosologic overlap

Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p

“…Prenatal ultrasound detection of SCD and STD has most commonly been achieved by the ultrasound detection of spine and rib abnormalities. Spine and rib abnormalities have typically been detected in the second trimester [Apuzzio et al, 1987; Tolmie et al, 1987; Romero et al, 1988; Eliyahu et al, 1997; Wong and Levine, 1998; del Rio Holgado et al, 2005; Phadke et al, 2007], although they may also be seen in the first trimester, particularly when the fetus is known to be at risk for the disorder [Lam et al, 1999; Kauffmann et al, 2003; Dane et al, 2007]. Molecular prenatal diagnosis of SCD has been described [Whittock et al, 2003].…”

Comparison of prenatal ultrasound findings and autopsy findings in fetuses terminated after prenatal diagnosis of malformations: An experience of a clinical genetics center

“…In four of these cases there was a sibling with the same syndrome in the family and the examination of that child was of great use in prenatal diagnosis. 14,15 Of course, confirmation of syndromic diagnosis by post mortem examination is essential as some of the diagnostic features cannot be detected by US. Examples include anal atresia in Omphalocele, Exstrophy of bladder, Imperforate anus, Spinal defects (OEIS) syndrome and pericardio-peritoneal defect in pentalogy of Cantrell.…”

Spondylocarpotarsal synostosis: A rare case of vertebral segmentation defect

“…Second trimester ultrasound scan in cases with spondylocostal dysostosis and spondylothoracic dysplasia can reveal various spine abnormalities and rib anomalies. 10,11 There are no reports of prenatal diagnosis by ultrasound scan in high/low risk families …”