Slovenian Five-Year Experiences with Rapid Prenatal Diagnosis of Common Chromosome Aneuploidies Using Quantitative-Fluorescence Polymerase Chain Reaction

Abstract

In women, at advanced age QF-PCR can be used alone without karyotyping. In cases with higher risk, especially those with abnormal ultrasound findings, analysis performed only with QF-PCR is not a sufficient diagnostic method.

Clinical Significance of Conventional Karyotype and QF-PCR in Detection of Fetal Chromosomal Abnormalities

“…Choosing the cases that can only be analyzed by QF-PCR without the need of longer method, karyotyping is a challenge for referring physicians. In the present study, In other published studies, the detection rate for chromosomal abnormalities falls in the range of 0.9-7.1% [15][16][17][18][19][20][21][22][23][24]. The highest reported rate was in Skerget et al [24] study (7.1%); they analyzed 642 samples of amniotic fluid or chorionic villi samples by QF-PCR and karyotyping (392 samples with both methods) and their conclusion was that women with advanced age can use QF-PCR without karyotyping.…”

“…In the present study, In other published studies, the detection rate for chromosomal abnormalities falls in the range of 0.9-7.1% [15][16][17][18][19][20][21][22][23][24]. The highest reported rate was in Skerget et al [24] study (7.1%); they analyzed 642 samples of amniotic fluid or chorionic villi samples by QF-PCR and karyotyping (392 samples with both methods) and their conclusion was that women with advanced age can use QF-PCR without karyotyping. Since their detection rate was among the highest reported rates, it suggests that their prenatal screening methods are well standardized.…”

Hitro prenatalno določanje številčnosti spolnih kromosomov: predstavitev metodologije z verifikacijo postopka

“…Trisomija kromosoma 21 (Downov sindrom), trisomija kromosoma 18 (Edwardov sindrom) in trisomija kromosoma 13 (Patau sindrom) so najpogostejše klinično značilne številčne autosomalne kromosomske spremembe, katerih incidenca je trenutno 1 na 160 živorojenih otrok (5). Od leta 2008 v Laboratoriju za medicinsko genetiko, UKC Maribor izvajamo QF-PCR testiranje pri nosečnicah, kjer je na podlagi drugih, fenotipskih ter biokemijskih znakov v nosečnosti izračunano povišano tveganje za rojstvo otroka z anevploidijo kromosomov 13, 18 in 21 (6) . Hitri test z QF-PCR tehniko za ugotavljanje številčnih anomalij kromosomov 13, 18 in 21 opravljamo kot podporno tehniko, katere preliminarni rezultati dopolnjujejo dlje časa trajajočo citogenetsko analizo.…”

“…Predhodne študije so dokazale učinkovitost metode QF-PCR za preverjanje številčnosti avtosomov in QF-PCR se je izkazala kot zanesljiva dopolnilna metoda za nadomestilo dolgotrajne citogenetske analize pri prenatalnih vzorcih (2,3). Po lastnih izkušnjah ter v skladu z evropskimi smernicami tako v LMG, UKC Maribor izvajamo osnovni hitri test z metodo QF-PCR za določanje številčnih sprememb kromosomov 13, 18 in 21 predvsem kot dopolnilo citogenetski analizi v primerih nosečnosti s povišanim tveganjem za rojstvo otroka s kromosomopatijo (6).…”

Validação de teste de reação em cadeia da polimerase fluorescente quantitativa (QF-PCR) para detecção de aneuploidias fetais

“…Parte das alterações cromossômicas, as quais podem estar relacionadas a deficiências físicas e mentais, permanecerão não detectadas mesmo pela técnica padrão ouro (6). Neste contexto, surge a necessidade da existência de métodos mais rápidos de diagnóstico em que não seja necessária a cultura de células, a fim de reduzir a ansiedade do casal (2,6,17,19,21,22,31,(40)(41)(42)(43)(44)(45)(46)(47)(48)(49)(50). Várias técnicas têm sido desenvolvidas para o diagnóstico rápido de aneuploidias em amostras pré-natais.…”