Fertility preserving treatment in a nulliparous with a molar pregnancy: a case report.

Hydatidiform mole represents an abnormal form of conception that occurs in about one in 500-1000 pregnancies. It is a subtype of gestational trophoblastic disease. Hydatidiform moles should be regarded as premalignant lesions because 15-20% of complete hydatidiform moles (CHMs) and 1% of partial hydatidiform moles (PHMs) undergo malignant transformation into invasive moles, choriocarcinomas, or, in rare cases, placental-site trophoblastic tumors (PSTTs). We will illustrate the case of a 26-year-old nulliparous with a seven weeks amenorrhea, positive immunological pregnancy test, a ß-HCG value of 136 000 mIU÷mL and minor vaginal bleeding. The ultrasonographic examination showed an enlarged endometrium with adjacent hyperechoic material containing tiny anechoic spaces and an anembryonic pregnancy, distended endometrial cavity containing innumerable, variably sized anechoic cysts with intervening hyperechoic material ("snowstorm" appearance). The CT showed a uterine mass measuring 89÷111÷67 mm, inhomogeneous density, proliferative-infiltrative endocavitary tissue without exceeding the peritoneal serosa, and a few pulmonary micronodules with not certain origin on the left inferior lobe. In this case, due to the large infiltrative uterine mass, the risk of severe bleeding after curettage and the possibility of a necessity hysterectomy, we decided to apply first of all the Methotrexate protocol for molar pregnancy.

Utilization of gene mapping and candidate gene mutation screening for diagnosing clinically equivocal conditions: a Norrie disease case study.

Prenatal diagnosis was requested for an undiagnosed eye disease showing X-linked inheritance in a family. No medical records existed for the affected family members. Mapping of the X chromosome and candidate gene mutation screening identified a c.C267A[p.F89L] mutation in NPD previously described as possibly causing Norrie disease. The detection of the c.C267A[p.F89L] variant in another unrelated family confirms the pathogenic nature of the mutation for the Norrie disease phenotype. Gene mapping, haplotype analysis, and candidate gene screening have been previously utilized in research applications but were applied here in a diagnostic setting due to the scarcity of available clinical information. The clinical diagnosis and mutation identification were critical for providing proper genetic counseling and prenatal diagnosis for this family.