Clinical laboratory · 2025
Normal Fetus in Chromosomal Abnormality Carriers.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Chen Weiping, Chen Caiping
Аннотация
BACKGROUND: Both balanced translocation and inversion belong to chromosome structural aberration, in which balanced translocation only changes the corresponding position of the translocation fragment on the chromosome. Inversion refers to the phenomenon that two breaks occur on one chromosome at the same time, and the fragments are reversed 180° and then reconnected. Chromosome balanced translocation and inversion usually have normal phenotype and intelligence because they retain the total amount of original genes. However, due to the reduction of the probability of producing normal gametes, patients usually show recurrent abortion and poor reproductive history.
METHODS: Peripheral blood lymphocytes and amniotic fluid cells were cultured for 72 hours and one week, respectively. The karyotypes were counted and analyzed after making original slides of chromosomes and G-banding operation. DNA was extracted from amniotic fluid cells by magnetic beads method, and chromosome copy number variation sequencing (CNV-seq) was determined by MGISEQ-2000 sequencer. Chromosome aneuploidy and chromosome copy number variation (CNVs) of more than 100 kb were analyzed.
RESULTS: The karyotype of father's peripheral blood is 46,XY,t(1;12)(q23.1;q23). The chromosome of mother's peripheral blood is 46,XX,inv(10)(p13q11.2). No obvious abnormality was found in fetal chromosome karyotype and CNV-seq results.
CONCLUSIONS: Although both parents in this study had abnormal chromosomal structures, elevating the risk of adverse pregnancy outcomes, they successfully conceived a fetus with a normal karyotype. This study suggests that genetic counseling-especially prenatal diagnosis-should adopt a more tolerant stance toward fetuses with similar chromosomal structural abnormalities.
METHODS: Peripheral blood lymphocytes and amniotic fluid cells were cultured for 72 hours and one week, respectively. The karyotypes were counted and analyzed after making original slides of chromosomes and G-banding operation. DNA was extracted from amniotic fluid cells by magnetic beads method, and chromosome copy number variation sequencing (CNV-seq) was determined by MGISEQ-2000 sequencer. Chromosome aneuploidy and chromosome copy number variation (CNVs) of more than 100 kb were analyzed.
RESULTS: The karyotype of father's peripheral blood is 46,XY,t(1;12)(q23.1;q23). The chromosome of mother's peripheral blood is 46,XX,inv(10)(p13q11.2). No obvious abnormality was found in fetal chromosome karyotype and CNV-seq results.
CONCLUSIONS: Although both parents in this study had abnormal chromosomal structures, elevating the risk of adverse pregnancy outcomes, they successfully conceived a fetus with a normal karyotype. This study suggests that genetic counseling-especially prenatal diagnosis-should adopt a more tolerant stance toward fetuses with similar chromosomal structural abnormalities.