Cystic hygroma and multiple pterygium syndrome

We report the prenatal detection of a cystic hygroma in a 17 weeks gestation male foetus with multiple pterygium syndrome. Ultrasonographic study was performed in this pregnancy after the birth of a macerated, hydropic male foetus with large cystic nuchal hygroma in a previous pregnancy.     

The fetal phenotype of partial trisomy of the long arm of chromosome 4 (4q22----4qter).

A slightly malformed female fetus with partial trisomy 4q due to a maternal balanced translocation t(1;4)(q44;q22) is reported. This fetus presented some of the typical facial features and internal malformations associated with pure partial trisomy 4q indicating that chromosomal diagnosis is needed to confirm the reality of the malformative syndrome.     

Lobar holoprosencephaly and Xq22 deletion.

A 20 weeks gestation female fetus with a lobar holoprosencephaly and Xq22 deletion is described. The phenotype correlation of the cerebral defect with the facial features is positive. On the contrary phenotypic-karyotypic correlation is non obvious.