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Clinical Significance of Conventional Karyotype and QF-PCR in Detection of Fetal Chromosomal Abnormalities: 3-Year Single Center Evaluation

This study aims to compare the advantages of two widely used methods for fetal chromosomal detection, karyotyping and QF-PCR, together with the indications for invasive prenatal diagnosis. We retrospectively investigated 1, 305 amniocenteses analysed by karyotyping, QF-PCR or both methods simultaneously. We assessed the results of each method and compared them to the indications for prenatal testing including maternal age, fetal ultrasound findings, and serum screening. We found 40 (3.1%) abnormalities, where 70% of those abnormalities were numerical and 30% were structural abnormalities undetectable by QF-PCR methods. Many structural abnormalities do not have clinical significance and we found that 21% of found structural abnormalities were clinically significant but undetectable by QF-PCR (0.3% of all amniocentesis analysed). Even though QF-PCR is a fast and reliable method, physicians should be aware of the limitations of various methodologies for detection of fetal abnormalities and assign the proper method to the indication for amniocentesis.

amniocentesis; karyotype; QF-PCR; prenatal diagnosis; fetal abnormalities

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