A Cytogenetic Analysis of Abortus with Spontaneous Abortion

PURPOSE: Chromosomal abnormalities of abortuses have been used to investigate common etiologies of spontaneous abortion, but the frequencies and types of spontaneous abortions have demonstrated considerable variation among different countries and races. MATERIALS AND METHODS: A cytogenetic analysis of 75 abortuses was performed at GenDix, Inc. from January 2006 to December 2007. RESULTS: The frequency of chromosome abnormalities in abortuses was 32.0% (24/75 cases). Among the chromosomal abnormalities, trisomy was present in 62.5% (15/24 cases) of cases and the most frequent trisomy was trisomy 21 with an occurrence rate of 26.6% (4/15 cases). The following was trisomy 22 (3/15 cases) and trisomy 20 (2/15 cases). The average maternal age for abnormal karyotypes was 34.3+/-3.3. CONCLUSION: Cytogenetic analysis of abortus is important for diagnosis and genetic counseling of patients with spontaneous abortion.

Prenatal diagnosis by isolation of fetal nucleated RBCs in maternal peripheral blood / 대한산부인과학회지

OBJECTIVE: To identify prenatal fetal sex and chromosomal aneuploidies by FISH using isolation of fetal nucleated RBCs. METHODS: peripheral blood samples was collected from 37 women between 11 and 24 weeks of gestation. we tried to enrich nucleated RBCs morphologically by Kleihaur-Betke staining after double gradient centrifugation and magnetic activating cell sorting (MACS) from maternal blood. Fluorescence in situ hybridization (FISH) analyses with CEP X and CEP Y probes for K-B positive nucleated RBCs were performed to detect whether fetal cells were existed among nucleated RBCs by observation of sex chromosomes. RESULTS: The average number of K-B positive nucleated RBCs separated from 10ml of maternal blood was 17.3 (+/-17.2) and the maximum number of nucleated RBCs was 54. We observed FISH signals in nucleated RBCs separated from 18 pregnant women, and Y probe signals were observed in 67.3% of nucleated RBCs separated from 10 pregnant women. CONCLUSION: We confirmed that separated nucleated fetal RBCs can be used to identify fetal sex and chromosomal aneuploidies by FISH. Since nucleated RBCs from maternal origin were not excluded, further studies are needed to overcome this limitation.