Amina Kurtovic - Academia.edu (original) (raw)
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Abstract This study aims to compare the advantages of two widely used methods for fetal chromosom... more Abstract 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
888 amniocenteses analyzed by karyotyping only or
karyotyping combined with QF-PCR. 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 39
(4.4%) abnormalities, where 59% of those abnormalities
were numerical and 41% were structural abnormalities
undetectable by QF-PCR methods. Many structural
abnormalities do not have clinical significance and we
found that 23% of found structural abnormalities were
clinically significant but undetectable by QF-PCR (0.3% of
all amniocentesis analyzed). Additional 23% of found
structural abnormalities were balanced translocations
which can have rare clinically significant consequences. In
total, 46% of found structural abnormalities had possible clinical consequences, which were undetectable by QFPCR,
or by noninvasive prenatal testing for five common
aneuploidies. Thus, QF-PCR is a reliable method to detect
most common fetal aneuploidies, but karyotyping should
be used if any other chromosomal abnormalities are suspected.
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.
Abstract This study aims to compare the advantages of two widely used methods for fetal chromosom... more Abstract 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
888 amniocenteses analyzed by karyotyping only or
karyotyping combined with QF-PCR. 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 39
(4.4%) abnormalities, where 59% of those abnormalities
were numerical and 41% were structural abnormalities
undetectable by QF-PCR methods. Many structural
abnormalities do not have clinical significance and we
found that 23% of found structural abnormalities were
clinically significant but undetectable by QF-PCR (0.3% of
all amniocentesis analyzed). Additional 23% of found
structural abnormalities were balanced translocations
which can have rare clinically significant consequences. In
total, 46% of found structural abnormalities had possible clinical consequences, which were undetectable by QFPCR,
or by noninvasive prenatal testing for five common
aneuploidies. Thus, QF-PCR is a reliable method to detect
most common fetal aneuploidies, but karyotyping should
be used if any other chromosomal abnormalities are suspected.
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.