HYDATIDIFORM-MOLE (H-MOLE) Pathophysiology

A complete mole contains no fetal tissue. Ninety percent are 46,XX, and 10% are 46,XY.[1, 2] Complete moles can be divided into 2 types: Androgenetic complete mole Homozygous  These account for 80% of complete moles.  Two identical paternal chromosome complements, derived from duplication of the paternal haploid chromosomes.  Always female; 46,YY has never been observed. o Heterozygous  These account for 20% of complete moles.  May be male or female.  All chromosomes are of parental origin, most likely due to dispermy. y Biparental complete mole: Maternal and paternal genes are present but failure of maternal imprinting causes only the paternal genome to be expressed.[3] o The biparental complete mole is rare. o A recurrent form of biparental mole, which is familial and appears to be inherited as an autosomal recessive trait, has been described. Al-Hussaini describes a series of 5 women with as many as 9 consecutive molar pregnancies.[4, 5] o Mutations in NLRP7 at 19q13.4 have been identified as causative in recurrent molar pregnancies.[6, 7, 8] With a partial mole, fetal tissue is often present. Fetal erythrocytes and vessels in the villi are a common finding. The chromosomal complement is 69,XXX or 69,XXY.[9] This results from fertilization of a haploid ovum and duplication of the paternal haploid chromosomes or from dispermy. Tetraploidy may also be encountered. As in a complete mole, hyperplastic trophoblastic tissue and swelling of the chorionic villi occur. y o

ANATOMY AND PHYSIOLOGY / PATHOPHYSIOLOGY

Normal uterine anatomy (cut section) The uterus is a muscular organ with thick walls, two upper openings to the fallopian tubes and an inferior opening to the vagina.

Uterus The uterus is a hollow muscular organ located in the female pelvis between the bladder and rectum. The ovaries produce the eggs that travel through the fallopian tubes. Once the egg has left the ovary it can be fertilized and implant itself in the lining of the uterus. The main function of the uterus is to nourish the developing fetus prior to birth.

Laboratory Studies
y y y y y y Quantitative beta-hCG: hCG levels greater than 100,000 mIU/mL indicate exuberant trophoblastic growth and raise suspicion for a molar pregnancy. However, a molar pregnancy may have a normal hCG level. Complete blood cell count with platelets: Anemia could be present and coagulopathy could occur. Clotting function: Test clotting function to exclude the development of a coagulopathy or to treat one if discovered. Liver function tests Blood urea nitrogen (BUN) and serum creatinine Thyroxine: Although women with molar pregnancies are usually clinically euthyroid, plasma thyroxine is usually elevated above the reference range for pregnancy. Patient may present with signs and symptoms of hyperthyroidism. Serum inhibin A and activin A: Serum inhibin A and activin A have been shown to be 7- to 10-fold higher in molar pregnancies than normal pregnancies at the same gestational age. The fall in inhibin A and activin A after evacuation may prove helpful. However, of the readily available markers, serum hCG levels is the standard of care.