Differential diagnosis of posterior cervical hygroma in previable fetuses

Abstract

Posterior cervical hygroma, once considered diagnostic of fetal Ullrich-Turner syndrome, is now recognized as being a nonspecific malformation found in a number of unrelated conditions. We have studied 61 fetuses of 1G23 developmental weeks from therapeutic and spontaneous abortions who had posterior cervical hygroma. We found that the group was indeed markedly heterogeneous, for both sexes were represented, and a variety of genetic and nongenetic disorders were present, such as trisomy 18,21, and probably also 13; lethal multiple pterygium syndrome; Noonan syndrome; isolated congenital heart defect, isolated pterygium colli; and monosomy X (45,X). Unlike any of the other conditions, 45,X fetuses had a constant association of 3 defects-posterior cervical cystic hygroma, generalized subcutaneous oedema, and preductal aortic coarctation. Therefore, we suggest that this triad is diagnostic of lethal Ullrich-Turner syndrome in the fetal period and that it may be used reliably to diagnose the syndrome in fetuses when chromosome analysis is impossible. Further, since preductal coarctation of the aorta is found in only a small proportion of liveborn girls with Ullrich-Turner syndrome, but occurred in all aborted fetuses in our study, we suggest that this abnormality is related to the lethality of the 45,X chromosome constitution during fetal development.

Significance of cardiovascular malformations in cystic hygroma: A new interpretation of the pathogenesis

“…In the present study of the cystic hygroma, the difference was not noticed in the distribution of lymph vessels between 45,X and non-45,X fetuses, partly because the histological examination of the tissues was made at random. In addition to different distribution of lymph vessels, smaller cystic cavity in non-45,X fetuses [Chitayat et al, 1989;present study] and less frequent observation of non-45,X fetuses in cystic hygroma [Kalousek and Seller, 1987; present study] have been described. These facts may explain the different circumstances, which include the onset or susceptibility in the formation of cystic hygroma, between 45,X and non-45,X fetuses.…”

Hydrops revisited: Literature review of 1, 414 cases published in the 1980s

“…The series of Kalousek and Seller [1987] shows the correlation between 45,X fetuses and tubular coarctation. Other fetuses with cystic hygroma and of known non-45,X chromosome constitution had a variety of anatomic abnormalities, including interruption of the aortic arch, but there was no consistent pattern.…”

Case Report: Lethal Multiple Pterygium Syndrome

“…Although nuchal cystic hygroma is seen in multiple disorders [12,21,22], the presence of nuchal cystic hygroma in the context of normal fetal karyotype suggests LMPS: LMPS accounts for approximately 8^10% of cases of nuchal cystic hygroma with known karyotype and 20^44% of cases of nuchal cystic hygroma with known normal karyotype [12,23]. Hydrops fetalis is less useful in establishing the diagnosis of LMPS, which accounts for 1.5% of cases of nonimmune hydrops fetalis [24].…”