QF-PCR in invasive prenatal diagnosis: a single-center experience in Turkey

被引：4

作者：

Ozer Kaya, Ozge ^{[1
]}

Koc, Altug ^{[1
]}

Ozdemir, Taha Resid ^{[1
]}

Kirbiyik, Ozgur ^{[1
]}

Ozyilmaz, Berk ^{[1
]}

Ozeren, Mehmet ^{[2
]}

Oztekin, Deniz Can ^{[2
]}

Taner, Cuneyt Eftal ^{[2
]}

Kutbay, Yasar Bekir ^{[1
]}

机构：

[1] Tepecik Training & Res Hosp, Genet Diagnost Ctr, Izmir, Turkey

[2] Tepecik Training & Res Hosp, Dept Obstet & Gynecol, Izmir, Turkey

来源：

TURKISH JOURNAL OF MEDICAL SCIENCES | 2017年 / 47卷 / 01期

关键词：

Amniocentesis; chromosome aberrations; prenatal diagnosis; genetic counseling; polymorphism; POLYMERASE-CHAIN-REACTION; COMMON ANEUPLOIDIES; SAMPLES; FISH;

D O I：

10.3906/sag-1511-157

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Background/aim: QF-PCR has been used for more than 20 years. It is based on investigation of polymorphic short tandem repeats (STRs) and is widely used for prenatal rapid aneuploidy detection. Materials and methods: We report retrospectively our prenatal diagnosis results between January 2012 and May 2014 in Tepecik Training and Research Hospital Genetic Diagnostic Center. Prenatal diagnosis was recommended in 6800 high-risk pregnancies and 2883 patients agreed to invasive diagnosis. Chromosome analysis and QF-PCR were performed in all patients. Results: Normal results were reported in 2711 cases by fetal karyotyping and in 2706 cases by QF-PCR. Anomaly detection rates were similar for the two methods (5.09% for karyotyping and 4.02% for QF-PCR). Conclusion: QF-PCR is a fast and reliable prenatal diagnosis method in all indication groups and may be preferred as the sole prenatal investigation in patients without fetal ultrasonographic findings.

引用

页码：142 / 147

页数：6

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