We report on the case of prenatal detection of trisomy 2 in placental biopsy and further algorithm of genetic counseling and testing. A 29-year-old woman with first-trimester biochemical markers refused chorionic villus sampling and preferred targeted non-invasive prenatal testing (NIPT), which showed low risk for aneuploidies 13, 18, 21, and X. A series of ultrasound examinations revealed increased chorion thickness at 13/14 weeks of gestation and fetal growth retardation, a hyperechoic bowel, challenging visualization of the kidneys, dolichocephaly, ventriculomegaly, increase in placental thickness, and pronounced oligohydramnios at 16/17 weeks of gestation.
View Article and Find Full Text PDFGenes (Basel)
December 2020
We studied the impact of age and the serum anti-Müllerian hormone (AMH)/follicle-stimulating hormone (FSH) levels on the number of cumulus-oocyte complexes (COCs) retrieved from female reciprocal and Robertsonian translocation carriers after controlled ovarian hyperstimulation (COH). The number of COCs retrieved after COH was retrospectively analyzed in female translocation carriers and 46,XX partners of male translocation carriers from 100 couples. The median number of COCs varied from nine to 16 and did not differ among subgroups of women categorized by age, presence and type of a translocation.
View Article and Find Full Text PDFWe report on the phenotype and the reproductive history of an adult female patient with an unbalanced karyotype: 8p23 and 18p11.3 terminal deletions and 8p22 duplication. The indication for karyotyping of the 28-year-old patient was a structural rearrangement in her miscarriage specimen: 45,ХХ,der(8;18)t(8;18)(p23;p11.
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