Utility of QF_PCR in prenatal diagnosis of fetal aneuploidies

Sabalete-Moya T, Carlos-Gil AM, Romero-Tabares A, Beltrán-Calvo C.
Record ID 32018000424
Original Title: Utilidad de QF-PCR en el diagnóstico prenatal de aneuploidías fetales.
Authors' objectives: To assess the utility in terms of accuracy and safety of QF-PCR in prenatal diagnosis of chromosomal abnormalities in high risk pregnancies.
Authors' results and conclusions: + The QF-PCR is a technique less accurate than the karyotype and not allowed to study the whole fetal chromosomes. From the classic cytogenetics, QF-PCR offers advantages such as lower cost, possibility of automation and speed in diagnosis, not being necessary culturing the sample. Missed detection of different aneuploidies that involve chromosomes 13, 18, 21, no detection of small mosaicism of these chromosomes and no detection of structural abnormalities are presented as disadvantages. Technical failures are mainly due to maternal contamination. + The false negative rate of the QF-PCR was higher than that detected in the cytogenetic analysis and was obtained mainly in mosaicism and structural abnormalities. Trisomies of chromosomes 13, 18 and 21 were the diseases with fewer false negative, with higher diagnostic yield. Only one study had a false positive result due to confined placental mosaicism. + In studies localized no results related to safety were described. Being a risk invasive technique would be relevant to know the data obtained on possible adverse events related with sample collection by record of adverse events. -! It was located a unique experience in the UK recommends performing QF-PCR for prenatal diagnosis of chromosomal abnormalities in pregnancies at higher risk to 1/150 in prenatal screening for Down syndrome. For all other indications the diagnostic technique of choice is the karyotype. In other countries, such as Sweden and Holland, the choice between QF-PCR and karyotyping is offered to pregnant. + In Spain, specifically in the Community of Asturias, has started recommending QF-PCR as a stand-alone test although they argue the convenience of being prudent and request both tests yet. They indicate that QF-PCR is eligible for pregnancies with positive screening test, but the karyotype must be performed simultaneously if there is a family or personal history of chromosomal abnormalities or positive echographic data record.
Project Status: Completed
Year Published: 2015
English language abstract: An English language summary is available
Publication Type: Mini HTA
Country: Spain
MeSH Terms
  • Aneuploidy
  • Prenatal Diagnosis
  • Polymerase Chain Reaction
  • Fetus
  • Karyotyping
  • Pregnancy
  • Sensitivity and Specificity
  • False Negative Reactions
  • Aneuploidía
  • Diagnóstico prenatal
  • Reacción en cadena de la polimerasa
Organisation Name: Andalusian Health Technology Assessment Area
Contact Address: Area de Evaluacion de Tecnologias Sanitarias Sanitarias de Andalucia (AETSA) Avda. Innovación, s/n Edificio Arena 1. Sevilla (Spain) Tel. +34 955 006 309
Contact Name: aetsa.csalud@juntadeandalucia.es
Contact Email: aetsa.csalud@juntadeandalucia.es
Copyright: Andalusian Health Technology Assessment Area (AETSA)
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