Evaluating the Effectiveness of Quantitative Fluorescent Polymerase Chain Reaction as a Substitute or Complement to Conventional Karyotyping for Prenatal Diagnosis
- PMID: 40390922
- PMCID: PMC12085522
- DOI: 10.1007/s13224-024-02032-1
Evaluating the Effectiveness of Quantitative Fluorescent Polymerase Chain Reaction as a Substitute or Complement to Conventional Karyotyping for Prenatal Diagnosis
Abstract
Background: This study endeavors to assess the efficacy of quantitative fluorescent polymerase chain reaction (QF-PCR) as an alternative adjunctive modality to conventional karyotyping for prenatal diagnostic purposes.
Methods: In this cohort study, 464 pregnant women deemed at high risk for chromosomal aneuploidies within gestational age 12-24 weeks, spanning from January 2020 to May 2023 were enrolled. Analysis was done on 347 women who underwent both QF-PCR and karyotype.
Results: Within this cohort, concordant QF-PCR and karyotype results were achieved in 332 (95.67%) samples with 21 women showing trisomy 21 and two trisomy 18 in the fetus with results being 100% concordant with karyotype and QF-PCR. Notably, there were no false-negative or false-positive QF-PCR results. However, eleven cases presented discordant results, revealing various genetic abnormalities, such as deletions, translocations, inversions, and mosaicism. The overall frequency of chromosomal abnormalities was 8.82% (41/464). The mean age of the pregnant women was 28.7 ± 5.54 years, with 10.7% (50/464) of women having aged > 35 years. The median gestation age for amniocentesis and CVS procedures was 16 weeks (IQR 15.6-20) and 13 weeks (IQR 12.7-13.5), respectively.
Conclusion: The study concluded that although QF-PCR may serve as a stand-alone diagnostic tool in some cases with appropriate pretest counseling, simultaneous karyotyping, or chromosomal microarray should be considered in pregnancies with normal QF-PCR results and abnormal USG findings such as increased nuchal translucency or structural malformations or a family history of a chromosomal disorder. Despite being a rapid and highly sensitive test, QF-PCR does not fully substitute conventional karyotype analysis.
Supplementary information: The online version contains supplementary material available at 10.1007/s13224-024-02032-1.
Keywords: Karyotype; Quantitative fluorescent polymerase chain reaction; Trisomy 21, 13, 18; XY chromosomal aneuploidy.
© Federation of Obstetric & Gynecological Societies of India 2024. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.
Conflict of interest statement
Conflict of interestAuthors report no conflict of interest.
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References
-
- Ding W-P, Li N, Chen M. Ultrasound screening of fetal anomalies at 11–13+6 weeks. Maternal-Fetal Med. 2020;02:175–80. 10.1097/FM9.0000000000000045.
-
- Syngelaki A, Guerra L, Ceccacci I, et al. Impact of holoprosencephaly, exomphalos, megacystis and increased nuchal translucency on first-trimester screening for chromosomal abnormalities. Ultrasound Obstet Gynecol. 2017;50:45–8. 10.1002/uog.17286. - PubMed
-
- Salomon LJ, Alfirevic Z, Berghella V, et al. ISUOG practice guidelines (updated): performance of the routine mid-trimester fetal ultrasound scan. Ultrasound Obstet Gynecol. 2022;59:840–56. 10.1002/uog.24888. - PubMed