48,XY,+7,+21 AND 47,XX,+16 FETAL KARYOTYPES IN A CASE WITH RECURRENT PREGNANCY LOSS

Abstract

Early pregnancy loss is the outcome of approximately 10% of clinically recognized pregnancies and chromosomal abnormalities are the underlying reason in 50%. In this report we discussed aneuploidy mechanisms and management options based on a couple with recurrent aneuploidies. Thirty-five-year-old female was referred with spontaneous abortion. Quantitative Fluorescent PCR was consistent with trisomy 21 but karyotyping revealed double trisomy of 48,XY,+7,+21. During follow-up, another abortion was diagnosed as 47,XX,+16. Peripheral blood analysis revealed a borderline mosaic 46,XX[95]/45,X[5] karyotype. Her physical examination was normal but abdominal ultrasonography revealed accessory spleen and double ureter in left kidney. We excluded Robertsonian translocations, structural aberrations or trisomic mosaicism as a cause but the borderline 45,X mosaicism may be the triggering factor by decreasing oocyte reserve. Presence of urinary malformation indicates that genitourinary mosaicism may be higher, although ovarian biopsy cannot be performed to determine it. Genetic counseling is vital in management of such cases.