Familial recurrent molar pregnancy: positive for KHDC3L gene mutation

Abstract

Recurrent hydatidiform moles are defined by the occurrence of two or more molar pregnancies in the same patient. These can be sporadic or familial where familial recurrent hydatidiform mole is rare and inherited as an autosomal recessive condition. Here, we present a case of four consecutive complete molar pregnancies with similar history in the sisters, who was diagnosed with fourth complete molar pregnancy. She underwent suction and evacuation followed by weekly serum β-hCG. On genetic analysis, she was found to be homozygous for KHDC3L gene mutation. She was advised for evaluation of her sisters and to consider In vitro fertilization (IVF) with donor ovum or adoption. Prompt suspicion and diagnosis along with counselling of the couple regarding the fertility options available to them are the main aspects of this disease to protect them from repeated physical as well as psychological trauma.