RAPID DETECTION OF FETAL ANEUPLOIDIES
BY QUANTITATIVE FLUORESCENT-POLYMERASE
CHAIN REACTION FOR PRENATAL DIAGNOSIS
IN THE TURKISH POPULATION
Guzel AI, Yilmaz MB, Demirhan O, Pazarbasi A, Kocaturk-Sel S, Erkoc MA,
Inandiklioglu N, Ozgunen FT, Sariturk C
*Corresponding Author: Associate Professor Ali Irfan Guzel, Department of Medical Biology and
Genetics, Faculty of Medicine, Rize University, 53100, Rize, Turkey; Tel.: +90-464-212-30-09; Fax: +90-
464-212-30-15; E-mail: aliirfanguzel@hotmail.com
page: 11
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DISCUSSION
The standard karyotype analysis implies the
determination of number and structure of all 23
chromosome pairs. The most common chromosome
anomalies, whose incidence increase with maternal
age, are related to non disjunctional errors resulting
in an extra copy or loss of one chromosome,
either in all cells or in a mosaic state (11). These
anomalies, however, have to be detected in a timely
fashion during gestation, using rapid and reliable
techniques such as QF-PCR, thus the pregnancy
could be terminated (or not) earlier leading to less
physical and emotional burdens to the mother and
family.
Several groups have reported that, QF-PCR
can be applied on different fetal samples (CVS,
AF, FB, FT obtained after termination) and is suitable
for detecting all major aneuploidies (4,12-15).
Chromosome anomalies, however, can comprise the
majority of all viable fetal aneuploidies, which has a
slightly negative diagnostic effect (16). Rapid analysis
of fetal chromosomes by QF-PCR: 1) reduces
parental anxiety through the exclusion of numerical
chromosome aberrations in fetuses, 2) provides
rapid detection of major aneuploidies, particularly
in fetuses suspected of carrying chromosome disorders
on the basis of ultrasound or biochemical tests, 3) allows families to give a decision regarding termination
of pregnancy at an earlier stage of gestation,
when the result clearly indicates the presence of fetal
chromosome disorder (6). Quantitative fl uorescent-
PCR allowed the determination of the fetal origin of
the sample and enabled us to eliminate MCC by comparing
the alleles from the fetal sample with those from
the mother. It is rapid (takes around 24 hours for diagnosis,
depending on the number of samples studied),
and a large number of samples can be processed simultaneously
with lower costs (8-10,13).
According to our fi ndings, STR markers D13S258
and D13S742 for chromosome 13; D18S386 and
D18S858 for chromosome 18; D21S1414-1411 and
D211412 for chromosome 21; X22, DXYS218 and
DX8377 for gender chromosomes, had the highest
heterozygosity ratio in our study population (Figures
4 and 5); therefore, these STR markers could be regarded as the most informative markers of common
chromosome euploidies or aneuploidies. It is therefore
plausible to employ these STR markers fi rst to
detect common chromosomal euploidies or aneuploidies
in the Turkish population.
In conclusion, prenatal diagnosis of a fetus is
very crucial, as this might affect the life of an individual
and his/her family. In this regard, we focused on
chromosomal euploidies and aneuploidies and how
frequent these abnormalities arise during pregnancy.
In our study, we observed that trisomies occurred in
around 1.7% of all subjects tested and some STR
markers we employed in our tests are better for detecting
chromosomal aneuploidies, therefore regarded
as more informative and should be the fi rst to test
in detecting numerical chromosomal aberrations.
We also support the notion that QF-PCR is reliable,
accurate, and robust, with no misdiagnoses for the
non mosaic trisomies of chromosome 13, 18, 21, X
and Y. However, the QF-PCR method can be used
in conjunction with conventional cytogenetic techniques
that are still regarded as gold standards.
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