A false negative QF-PCR and trisomy 18-trisomy 9 mosaicism: A case report

A discrepancy has been showed between QF-PCR and karyotyping results as 0.2% in mosaicism.Our case was in 17 th gestational weeks who referred to our clinic for having a Trisomy 18 risk as 1 in 50 in triple test.On the ultrasonography, we detected bilateral choroid plexus cysts and bilateral pyelectasia.After amniocentesis QF-PCR has been showed a normal kromosomal patern and cytogenetic analysis has been showed trisomy 18 and trisomy 9 mosaicism.

📌 3 Key Takeaways

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Objective & Hypothesis:Using QF-PCR for rapid prenatal diagnosis of major chromosome aneuploidies demonstrated that the method is highly efficient, reliable and cost effective in the literature.

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Key Findings & Data:Using QF-PCR for rapid prenatal diagnosis of major chromosome aneuploidies demonstrated that the method is highly efficient, reliable and cost effective in the literature.

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Conclusion & Impact:A discrepancy has been showed between QF-PCR and karyotyping results as 0.2% in mosaicism.Our case was in 17 th gestational weeks who referred to our clinic for having a Trisomy 18 risk as 1 in 50 in triple test.On the ultrasonography, we detected bilateral choroid plexus cysts and bilateral pyelectasia.After amniocentesis QF-PCR has been showed a normal kromosomal patern and cytogenetic analysis has been showed trisomy 18 and trisomy 9 mosaicism.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Domain Parameters

Abstract

Using QF-PCR for rapid prenatal diagnosis of major chromosome aneuploidies demonstrated that the method is highly efficient, reliable and cost effective in the literature. A discrepancy has been showed between QF-PCR and karyotyping results as 0.2% in mosaicism.Our case was in 17 th gestational weeks who referred to our clinic for having a Trisomy 18 risk as 1 in 50 in triple test.On the ultrasonography, we detected bilateral choroid plexus cysts and bilateral pyelectasia.After amniocentesis QF-PCR has been showed a normal kromosomal patern and cytogenetic analysis has been showed trisomy 18 and trisomy 9 mosaicism.

Özet

Major kromozomal anöploidilerin hızlı prenatal tanısında Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR) yöntemi literatürde oldukça etkin (%95), güvenli ve düşük maliyetli olarak gösterilmiştir. Mozaik trizomilerde QF-PCR ve karyotipleme yöntemleri arasında % 0.2 oranında uyumsuzluk varlığı bildirilmiştir. Bizim olgumuz; 17. gebelik haftasında triple testinde Trizomi 18 riskinin 1/50 olması nedeniyle kliniğimize gönderilmişti. Yapılan ultrasonografide fetusta bilateral koroid pleksus kistleri ve bilateral pelviektazi olduğu saptandı. Amniotik sıvıdan yapılan QF-PCR analizi; normal kromozomal yapı gösterdi ancak sitogenetik analizde fetusta trizomi 18 ve trizomi 9 mozaisizm olduğu tespit edildi.

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Cite This Article

PEHLİVAN, S., BALAT, Ö., BALTACI, V., DİKENSOY, E., CEBESOY, F. B., SEVER, T., KUTLAR, A. İ. (2022). A false negative QF-PCR and trisomy 18-trisomy 9 mosaicism: A case report. Türk Jinekoloji ve Obstetrik Derneği Dergisi, Cilt: 8 - Sayı: 1, 67–70. https://ajindex.com/articles/631606

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