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Abstract
Objective: To evaluate the value of the BoBs assay for prenatal detection of chromosomal aneuploidies and microdeletions.
Objects and Methods Study: amniotic fluid samples of 30 women with gestational age ≥ 16 weeks in the Center of Prenatal Diagnosis, National Hospital of Obsterics and Gynecology. Each specimen was tested by BoBs and cytogenetics.
Results: abnormal chromosome were detected in 6 samples by BoBs and cytogenetics. 2 Trisomy 21; 1 trisomy 18 were found by both BoBs and cytogenetics method. Bobs technique detected 2 cases DiGeorge syndrome, 1 case Cri-du-chat syndrome which missed by cytogenetic method
Conclusion: Bobs asay detected 2 cases DiGeorge syndrome, 1 case Cri-du-chat syndrome that cytogenetic methods did not detect. Our data suggested that prenatal diagnosis should be combined both cytogenetic and Bobs assay.
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