Prenatal diagnosis of a fetus with anencephaly and thumb agenesis.

Severe anomalies of the forebrain together with reduction limb anomalies are a rare congenital anomalies association. We report a prenatal diagnosis of acalvaria, anencephaly and thumb agenesis in a voluntary terminated fetus and discuss the role of genetic counseling.

Prenatal diagnosis of 45,X/46,XY mosaicism with cleft lip and epispadias.

Introduction: 45,X/46,XY mosaicism is an uncommon chromosomal anomaly with a range of phenotypes from normal males to cases of multiple congenital anomalies.

Materials And Methods: We report a case with associated cleft lip and epispadias prenatally diagnosed with autopsy evidences.

Conclusion: Our case, with an uncommon association of congenital anomalies, stresses the difficulty of prenatal counselling regarding 45,X/46,XY mosaicism and discuss the possible role of sex chromosome genes that may be involved in the pathogenesis of both types of midline defect.

Craniorachischisis and heterotaxia with heart disease in twins: link or change nature?

Craniorachischisis is a rare neural tube defect in which both acrania and a complete schisis of the vertebral column are present. Heterotaxy results from failure to establish normal left-right asymmetry during embryonic development and is characterized by a variable group of congenital anomalies that include complex cardiac malformations and situs inversus or situs ambiguous. We report a diamniotic twin pregnancy with two malformed fetuses affected one by craniorachischisis and the other by heterotaxya with paired right-sided viscera, asplenia, and complex congenital heart disease.

No association between apolipoprotein E polymorphisms and recurrent pregnancy loss.

Our study does not support the reported association between APOE and recurrent pregnancy loss (RPL) than the clinical management of these patients should not be influenced by the presence or not of APO E polymorphisms.