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QF‐PCR as a substitute for karyotyping of cytotrophoblast for the analysis of chorionic villi: advantages and limitations from a cytogenetic retrospective audit of 44,727 first‐trimester prenatal diagnoses
Author(s) -
Grati Francesca R.,
Malvestiti Francesca,
Grimi Beatrice,
Gaetani Elisa,
Di Meco Anna Maria,
Trotta Anna,
Liuti Rosaria,
Chinetti Sara,
Dulcetti Francesca,
Ruggeri Anna Maria,
Agrati Cristina,
Frascoli Giuditta,
Milani Silvia,
De Toffol Simona,
Martii Lorenza,
Paganini Silvia,
Marcato Livia,
Maggi Federico,
Simoni Giuseppe
Publication year - 2013
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4099
Subject(s) - chorionic villi , prenatal diagnosis , medicine , cytotrophoblast , obstetrics , products of conception , chorionic villus sampling , polymerase chain reaction , audit , gynecology , biology , pregnancy , genetics , fetus , placenta , gestation , gene , management , economics
Objectives Karyotyping on chorionic villous samples (CVS) includes the analysis of both cytotrophoblast (STC) and mesenchyme (LTC). This approach requires complex laboratory organization and trained technicians. The introduction of quantitative fluorescent polymerase chain reaction (QF‐PCR) instead of conventional karyotyping in low‐risk pregnancies opened its application in CVS analysis. Discordant QF‐PCR and CVS cytogenetic results were reported, and strategies for CVS analysis were introduced to minimize this risk. The possibility to substitute the STC with QF‐PCR was reported. The aim of this study is to evaluate benefits and limitations of the approach QF‐PCR + LTC compared with the traditional method STC + LTC and to quantify the associated risks of false results. Method This study is based on a retrospective cytogenetic audit of CVS results ( n = 44 727) generated by the STC + LTC analytic approach. False‐negative risks related to true fetal mosaicism type IV, imprinting syndromes and maternal contamination in LTC were calculated. Results Compared with STC + LTC, QF‐PCR + LTC approach is associated with a cumulative false‐negative risk of ~1/3100–1/4400. Costs and reporting time of STC in a high‐throughput cytogenetic lab are similar to a CE‐IVD marked QF‐PCR analysis. Conclusions These results should be clearly highlighted in the pre‐test counseling and extensively discussed with the couple prior to testing for informed consent. © 2013 John Wiley & Sons, Ltd.