Goo-Hwa Je

Bilateral Ovarian Pregnancy After in Vitro Fertilization and Embryo Transfer in a Patient with Tubal Factor Infertility

Primary ovarian pregnancy is very rare event after natural pregnancy or assisted reproductive technology (ART) procedures. Although there are a few reports about unilateral ovarian pregnancy after in vitro fertilization and embryo transfer (IVF-ET), there has been no report about bilateral ovarian pregnancy. Moreover, it is difficult to diagnose an ovarian pregnancy following in vitro fertilization and embryo transfer because of enlarged ovary, fluid collection in pelvic cavity, and its low incidence. We present a case of a patient who underwent IVF-ET due to tubal factor infertility, but the patient developed bilateral ovarian pregnancy and was performed both ovarian wedge resection through laparotomy.

Partial trisomy of chromosome 10(q22–q24) due to maternal insertional translocation (15;10)

Interchromosomal insertional translocations are rare chromosome rearrangements with an incidence of about 1:80,000 live births. We report on the clinical and cytogenetic findings of a newborn baby with partial trisomy 10q22–10q24 due to a maternal insertional translocation 15;10. Partial trisomy of the long arm of chromosome 10 is a distinctive chromosome aberration characterized by prenatal‐onset growth retardation and craniofacial, skeletal, and other somatic anomalies. Most cases are unbalanced products from reciprocal chromosome translocations, and insertional translocations are rarely involved. The proband was initially referred because of severe intrauterine growth retardation, and fluorescence in situ hybridization (FISH) using painting probes confirmed the maternal balanced (15;10) insertion.

Microarray detection of a de novo der(X)t(X;11)(q28;p13) in a girl with premature ovarian failure and features of Beckwith-Wiedemann syndrome

AbstractWe report an 18-year-old girl with premature ovarian failure (POF), tall stature, and urinary incontinence. Chromosome studies including array comparative genomic hybridization showed that she was the carrier of an unbalanced de novo translocation between the X chromosome and chromosome 11, resulting in partial monosomy Xq and partial trisomy 11p. Microsatellite analysis demonstrated that the patient had paternal duplication of 11p13p15.5, which contributed to some of her features consistent with Beckwith-Wiedemann syndrome (BWS). The combined phenotype of BWS and POF suggests that the translocated portion of 11p remains active.

Enrichment and detection of fetal erythroid cells from maternal peripheral blood using liquid culture.

Isolating fetal cells from maternal blood for prenatal genetic analysis is the least invasive method currently being investigated. In order to enrich these fetal erythroid cells we employed a two‐phase liquid culture system that supports the growth and differentiation of erythroid progenitor cells. Mononuclear cells were separated from ten maternal blood samples at 8–14+3 weeks of gestation and cultured in the first phase. After 4–5 days, the non‐adherent cells were harvested and recultured with erythropoietin for another 3–4 days. The mean number of total erythroid cells reached approximately 0.77×106/ml with an average purity of 90.5%. Hb F stain disclosed fetal erythroid cells averaging ∼5.7%, therefore the mean number of fetal erythroid cells isolated was 0.49×105/ml. Female karyotypes were only observed while counting 5–66 metaphases. However, male DNA (SRY or DYZ1) was detected by PCR in 7/10 cases; in four of these cases and in one SRY‐negative pregnancy the 46,XY karyotype was found by amniocentesis performed during the second trimester. This liquid culture system provided an enriched source of fetal cells without the need for more complicated separation or sorting procedures. Copyright