Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal Anomalies
Abstract
:1. Introduction
2. Materials and Methods
3. Results
3.1. Rare Autosomal Trisomies
3.2. Structural Chromosome Anomalies (SAs)
3.3. Screen Negative Cases Having Abnormal Ultrasound Findings
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Predicted Rare Autosomal Aneuploidy | ∑ n | True Positives n | CPM n | False Positives n | FP/CPM? * n |
---|---|---|---|---|---|
Trisomy 7 | 8 | 1 | 1 | 1 | 5 |
Trisomy 16 | 7 | 1 | 2 | 0 | 4 |
Trisomy 22 | 6 | 1 | 1 | 1 | 3 |
Trisomy 3 | 4 | 1 | 0 | 1 | 2 |
Trisomy 10 | 3 | 1 | 1 | 0 | 1 |
Trisomy 15 | 3 | 1 | 0 | 0 | 2 |
Trisomy 4 | 2 | 0 | 1 | 1 | 0 |
Trisomy 20 | 2 | 0 | 2 | 0 | 0 |
Trisomy 8 | 2 | 0 | 0 | 0 | 2 |
Trisomy 9 | 1 | 0 | 1 | 0 | 0 |
Trisomy 12 | 1 | 1 | 0 | 0 | 0 |
Monosomy 7 | 1 | 0 | 0 | 0 | 1 |
Total (%) | 40 | 7 (17.5%) | 9 (22.5%) | 4 (10%) | 20 (50%) |
Structural Anomalies | ∑ n | True Positives n | False Positives n | Positive Predictive Value |
---|---|---|---|---|
Deletions | ||||
del (22)(q11.2) | 9 | 3 | 6 | 33.3% |
del (1)(p36) | 3 | 3 | ||
del (4)(p) * | 3 | 1 | 2 | 33.3% |
del (5)(p) * | 3 | 1 | 2 | 33.3% |
del(10)(q21.1q21.3) | 2 | 2 | ||
del (2q?) * | 1 | 1 | ||
del (2)(q24.3q31.2) | 1 | 1 | ||
del (3)(q11.2q13.13) | 1 | 1 | ||
del (7)(q21.11q22.1) | 1 | 1 | ||
del (7)(q21.13q31.32) | 1 | 1 | ||
del (10)(q25.2q26.3) | 1 | 1 | ||
del(10)(p subtel) | 1 | 1 | ||
del (13q?) * | 1 | 1 | ||
del (14)(q21.1) | 1 | 1 | ||
del (14)(q31.1q31.5) | 1 | 1 | ||
del (16)(q14.1q16.1) | 1 | 1 | ||
del (15)(q11.2q11.3) | 1 | 1 | ||
del (18)(q12.2q12.3) | 1 | 1 | ||
Total | 33 | 10 | 23 | 30.3% |
Duplications | ||||
dup (22)(q11.2) | 1 | 1 | ||
dup (8)(q22.3q23.1) | 1 | 1 | ||
dup (4)(p16.3p15.2) | 1 | 1 | ||
dup (16p) * | 1 | 1 | ||
dup (1)(q25.3q32.1) | 1 | 1 | ||
dup (4)(q27q31.1) | 1 | 1 | ||
dup (8)(p11qter) | 1 | 1 | ||
dup(21)(q21.1q22.2) | 1 | 1 | ||
tetrasomy (12p) | 1 | 1 | ||
Total | 9 | 5 | 4 | 55.6% |
Double anomalies | ||||
dup(3p)/dup(15q) * | 1 | 1 | ||
mosdup(7)(q33q36)/del (18)(q22q23) | 1 | 1 | ||
Y/2 abnormal CNVs | 1 | 1 | ||
Total | 3 | 1 | 2 | 33.3% |
Prader Willi/Angelman Syndrome | 4 | 4 | ||
SAs Total | 49 | 16 | 33 | 32.7% |
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Basaran, S.; Has, R.; Kalelioglu, I.H.; Sarac Sivrikoz, T.; Karaman, B.; Kirgiz, M.; Dehgan, T.; Kalayci, T.; Ozsait Selcuk, B.; Miny, P.; et al. Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal Anomalies. Genes 2022, 13, 2389. https://doi.org/10.3390/genes13122389
Basaran S, Has R, Kalelioglu IH, Sarac Sivrikoz T, Karaman B, Kirgiz M, Dehgan T, Kalayci T, Ozsait Selcuk B, Miny P, et al. Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal Anomalies. Genes. 2022; 13(12):2389. https://doi.org/10.3390/genes13122389
Chicago/Turabian StyleBasaran, Seher, Recep Has, Ibrahim Halil Kalelioglu, Tugba Sarac Sivrikoz, Birsen Karaman, Melike Kirgiz, Tahir Dehgan, Tugba Kalayci, Bilge Ozsait Selcuk, Peter Miny, and et al. 2022. "Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal Anomalies" Genes 13, no. 12: 2389. https://doi.org/10.3390/genes13122389