Microarray analysis: <scp>F</scp>irst‐trimester maternal serum free <scp>β‐hCG</scp> and the risk of significant copy number variants

Bornstein, Eran; Gulersen, Moti; Krantz, David; Cheung, Sau Wai; Maliszewski, Kristen; Divon, Michael Y.

doi:10.1002/pd.5350

Cited by 6 publications

(4 citation statements)

References 35 publications

(67 reference statements)

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“…Contrary, the relationship between serum PAPP-A levels with CNVs is still unclear. Although large population-based studies have reported an association with low PAPP-A levels, neither Bornstein et al [18] nor our study have identified a significant association. This difference could be due to an effect of the sample size of the included cohort or the defined PAPP-A cutoff point.…”

Section: Discussion/conclusioncontrasting

confidence: 99%

“…Indeed, the residual risk of a clinically significant CNV is 3 times higher when low β-hCG levels are detected or 2 times higher when fetal NT ≥3.5 mm is detected in high-risk pregnancies (cFTS ≥1/250) (Table 2). A similar association has been previously reported by Bornstein et al [18]. Contrary, the relationship between serum PAPP-A levels with CNVs is still unclear.…”

Section: Discussion/conclusionsupporting

confidence: 87%

“…In contrast to prenatal cfDNA screening, cFTS can identify risk for a broad array of abnormalities [11-13, 18]. Further studies are needed to address the incremental value of cFTS for the detection of atypical aneuploidies, including copy number variants (CNVs), structural anomalies, and other adverse perinatal outcomes.…”

Section: Introductionmentioning

confidence: 99%

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Significance of Low Maternal Serum Β-hCG Levels in the Assessment of the Risk of Atypical Chromosomal Abnormalities

et al. 2021

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Introduction: The introduction of prenatal cell-free DNA as a screening test has surpassed traditional combined first-trimester screening (cFTS) in the detection of common trisomies. However, its current limitation in detecting only common trisomies is affecting the diagnostic yield for other clinically significant chromosomal abnormalities. Methods: In efforts to optimize the detection of fetuses with genetic abnormalities, we have analyzed the relationship between the cFTS risk score and biomarkers with atypical chromosomal abnormalities. Furthermore, we have evaluated the impact of prenatal cell-free DNA screening on the detection of chromosomal abnormalities in our population. For these purposes, we performed a retrospective study of 877 singleton pregnancies who underwent chromosomal microarray analysis (CMA) between 2013 to 2020 and for whom first-trimester screening data were available. Results: The results demonstrated that low levels of free beta human chorionic gonadotropin (β-hCG) (≤ 0.37 MoM) and increased fetal nuchal translucency (NT) (≥ 3.5mm) were statistically associated with the presence of atypical chromosomal abnormalities. In fact, the risk of pathogenic CMA results increased from 6% to 10% when fetal NT was increased and from 6% to 20% when a low serum β-hCG level was detected in the high-risk cFTS group. Moreover, our results showed that altered serum levels of β-hCG can have a substantial impact on the early detection of clinically relevant copy number variants. Discussion/Conclusion: Traditional cFTS can potentially identify a substantial proportion of atypical chromosomal aberrations, and women with increased NT or low maternal serum β-hCG levels are at increased risk of having pathogenic CMA results. Our results may help clinicians and women decide whether invasive testing or prenatal cell-free DNA screening testing are more appropriate for each situation.

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Section: Discussion/conclusioncontrasting

confidence: 99%

Section: Discussion/conclusionsupporting

confidence: 87%

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Significance of Low Maternal Serum Β-hCG Levels in the Assessment of the Risk of Atypical Chromosomal Abnormalities

et al. 2021

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“…Maternal serum screening has been used for prenatal screening of foetal aneuploidies since the 1950s 27 . Recent evidence has shown that abnormal serum screening results are associated with foetal pCNVs 28 . In our study, although the detection rates of aneuploidies in pregnancies with an increased maternal serum screening risk were not significantly increased, the detection rates of pCNVs and lpCNVs in these pregnancies elevated significantly.…”

Section: Discussionmentioning

confidence: 99%

Comparison of the combined use of CNV-seq and karyotyping or QF-PCR in prenatal diagnosis: a retrospective study

Zhang

Chen

et al. 2023

Sci Rep

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To elevate the accuracy of diagnostic results, CNV-seq is usually performed simultaneously with karyotyping or QF-PCR. Although several studies have investigated the performance of the combined use of CNV-seq with karyotyping or QF-PCR, there have been no reports focusing on the comparison of these 2 diagnostic strategies. In our study, 2507 pregnant women were included to investigate these 2 strategies. The detection rates of foetal genetic abnormalities and turnaround time were compared between these 2 groups. Moreover, the detection rates of foetal genetic abnormalities in different indications were analyzed. Our results unveiled that the detection rates of numerical chromosomal abnormalities were nearly the same in these 2 groups. In addition to numerical chromosomal abnormalities, 39 balanced karyotypic changes and chromosome polymorphisms were detected via the combined use of karyotyping and CNV-seq. Further investigation revealed that the vast majority of these karyotypic changes were inherited from parents. Compared with the karyotyping group, the combination of QF-PCR and CNV-seq reduced the reporting time from 31.593 ± 4.944 days to 11.460 ± 4.894 days. Meanwhile, NIPT, maternal serum screening and ultrasound scan significantly improved the detection of foetal genetic abnormalities. In conclusion, our results revealed that parental karyotyping is a useful supplementary method for CNV-seq and systematic prenatal examinations improved the detection of foetal genetic defects.

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Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis

Benn¹

2021

Genetic Disorders and the Fetus

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Microarray analysis: First‐trimester maternal serum free β‐hCG and the risk of significant copy number variants

Abstract: Low first-trimester serum β-hCG is associated with an increased risk of significant CNVs on CMA.

Cited by 6 publications

References 35 publications

Significance of Low Maternal Serum Β-hCG Levels in the Assessment of the Risk of Atypical Chromosomal Abnormalities

Significance of Low Maternal Serum Β-hCG Levels in the Assessment of the Risk of Atypical Chromosomal Abnormalities

Comparison of the combined use of CNV-seq and karyotyping or QF-PCR in prenatal diagnosis: a retrospective study

Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis

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