Fetal karyotype from cystic hygroma fluid

Abstract

In cystic hygroma (CH) fetuses, hydrops fetalis and anamnios make it difficult or impossible to obtain amniotic fluid or cord blood for cytogenetic analysis. We report six cases of CH in which cytogenetic analysis was simply and successfully performed using nuchal fluid cells. The karyotypes were 47,XY, + 18,46,XY,46,XX, and 45,X (n = 3).

Rapid fetal karyotype from cystic hygroma and pleural effusions

“…To our knowledge, only in 11 cases from four series, in which a karyotype was obtained from long-term culture of cystic fluid, was a karyotype by conventional methods attempted, confirming in all cases but one the result derived from the cysts. In the single case with discrepant karyotypes, analysis of additional metaphases in amniotic fluid revealed the chromosomal anomaly, detected in hygroma fluid (Al Saadi, 1989;Platt et al, 1990;Ville et al, 1992;Verschraegen-Spae and De Paepe, 1994) (Table 111).…”

“…Aspiration of the fluid from cystic hygroma has been previously reported and described as an easy procedure Patil et al, 1987;Golden et al, 1989;Platt et al, 1990;Ville et al, 1992). Fluid from the hygroma may be inadvertently obtained during amniocentesis and suspected when alpha-fetoprotein levels are found to be extremely elevated in the fluid (Pawlowitzki and Wormann, 1979).…”

“…Furthermore, tapping fluid directly from the cystic hygroma has been suggested as an easier procedure than obtaining amniotic fluid in cases of oligohydramnios or large cystic hygromas which preclude access to the amniotic cavity (Golden et al, 1989;Ville et al, 1992). No deleterious fetal effects have been described after cystic fluid aspiration (Golden et al, 1989).…”

“…Alternative cell sources have also been used to obtain the fetal kayotype in selected cases. Cystic hygroma fluid has been aspirated and cultured as amniotic fluid using long-term culture Golden et al, 1989;Platt et al, 1990;Ville et al, 1992). Furthermore, a rapid karyotype has been obtained from lymphocytes present in cystic hygroma (Patil et al, 1987), from ascitic fluid (Wax et al, 1992), from amniotic fluid in a case of abdominal wall defect , and from pleural effusion (Caine et al, 1993).…”

Analysis of cystic hygroma, ascitic, and pleural fluids by conventional lymphocyte culture and fluorescentin situ hybridization

“…However, although these fluids are known to contain lymphocytes (Wax et al, 1992), they should give results comparable to amniotic fluid and fetal blood cultures. They have been previously cultured like amniotic fluids using long-term cultures (Ville et al, 1992) and later as lymphocyte cultures (Costa et al, 1995). We have attempted a slight modification in the hypotonic treatment of lymphocyte cultures in order to obtain rapid karyotyping maintaining chromosomal quality.…”