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Introduction: Noninvasive prenatal screening (NIPT) is a sensitive screen focusing on common aneuploidies. Products of conception (POC) testing can detect all aneuploidies, uniparental disomy, triploidy and deletions/duplications.

Methods: POC and NIPT results for the same pregnancy were reviewed. POC testing was performed using Illumina CytoSNP-12b microarrays. For NIPT, cfDNA was amplified by massively-multiplexed PCR targeting 13,392 SNPs across chromosomes 13, 18, 21, X and Y.



Results: Of 25,432 POC cases, 22,103 had fetal results (87%): 9,712 normal, 12,391 abnormal (1,630 triploid, 575 deletions/duplications). 271 POC cases had prior NIPT: 181(66.8%) low-risk results, 40(14.8%) high-risk results, and 50(18.4%) no results (low fetal fraction/uninformative DNA).
For low-risk cases, 157/181 (86.7%) had concordant POC results, 23/181 (12.7%) had POC results undetectable by NIPT, including 8 cases of deletions/duplications (4.4%) and 1 triploidy (0.5%).

For high-risk cases, 39/40 (97.5%) were concordant. For no result cases, 37/50 (74%) had abnormal POC results, including 14 cases of triploidy (28%), and 2 deletions/duplications (4%).


Conclusion/Implications: In our study, low-risk cases had a 4.4% rate of deletions/duplications, almost double the overall POC incidence of 2.6%. Importantly, these findings could be due to parental balanced translocations. No results cases had a higher incidence (74%) of chromosome abnormalities than POC studies (56%), particularly triploidy at a rate of 28% compared to 7.4% in POC studies, which carries a risk for gestational trophoblastic disease (GTD).

POC testing after NIPT allows providers to streamline the work-up for miscarriage, provide recurrence risks, guide maternal screening for GTD, and allow patients closure.

Introduction: Noninvasive prenatal screening (NIPT) is a sensitive screen focusing on common aneuploidies. Products of conception (POC) testing can detect all aneuploidies, uniparental disomy, triploidy and deletions/duplications.

Methods: POC and NIPT results for the same pregnancy were reviewed. POC testing was performed using Illumina CytoSNP-12b microarrays. For NIPT, cfDNA was amplified by massively-multiplexed PCR targeting 13,392 SNPs across chromosomes 13, 18, 21, X and Y.



Results: Of 25,432 POC cases, 22,103 had fetal results (87%): 9,712 normal, 12,391 abnormal (1,630 triploid, 575 deletions/duplications). 271 POC cases had prior NIPT: 181(66.8%) low-risk results, 40(14.8%) high-risk results, and 50(18.4%) no results (low fetal fraction/uninformative DNA).
For low-risk cases, 157/181 (86.7%) had concordant POC results, 23/181 (12.7%) had POC results undetectable by NIPT, including 8 cases of deletions/duplications (4.4%) and 1 triploidy (0.5%).

For high-risk cases, 39/40 (97.5%) were concordant. For no result cases, 37/50 (74%) had abnormal POC results, including 14 cases of triploidy (28%), and 2 deletions/duplications (4%).


Conclusion/Implications: In our study, low-risk cases had a 4.4% rate of deletions/duplications, almost double the overall POC incidence of 2.6%. Importantly, these findings could be due to parental balanced translocations. No results cases had a higher incidence (74%) of chromosome abnormalities than POC studies (56%), particularly triploidy at a rate of 28% compared to 7.4% in POC studies, which carries a risk for gestational trophoblastic disease (GTD).

POC testing after NIPT allows providers to streamline the work-up for miscarriage, provide recurrence risks, guide maternal screening for GTD, and allow patients closure.

Miscarriage after Noninvasive Prenatal Screening—the Value of Genetic Testing in Pregnancy Loss
Ms. Melissa Maisenbacher
Ms. Melissa Maisenbacher
Affiliations:
Natera
ACOG ePoster. Maisenbacher M. 04/27/2018; 211679; 34J
user
Ms. Melissa Maisenbacher
Affiliations:
Natera
Introduction: Noninvasive prenatal screening (NIPT) is a sensitive screen focusing on common aneuploidies. Products of conception (POC) testing can detect all aneuploidies, uniparental disomy, triploidy and deletions/duplications.

Methods: POC and NIPT results for the same pregnancy were reviewed. POC testing was performed using Illumina CytoSNP-12b microarrays. For NIPT, cfDNA was amplified by massively-multiplexed PCR targeting 13,392 SNPs across chromosomes 13, 18, 21, X and Y.



Results: Of 25,432 POC cases, 22,103 had fetal results (87%): 9,712 normal, 12,391 abnormal (1,630 triploid, 575 deletions/duplications). 271 POC cases had prior NIPT: 181(66.8%) low-risk results, 40(14.8%) high-risk results, and 50(18.4%) no results (low fetal fraction/uninformative DNA).
For low-risk cases, 157/181 (86.7%) had concordant POC results, 23/181 (12.7%) had POC results undetectable by NIPT, including 8 cases of deletions/duplications (4.4%) and 1 triploidy (0.5%).

For high-risk cases, 39/40 (97.5%) were concordant. For no result cases, 37/50 (74%) had abnormal POC results, including 14 cases of triploidy (28%), and 2 deletions/duplications (4%).


Conclusion/Implications: In our study, low-risk cases had a 4.4% rate of deletions/duplications, almost double the overall POC incidence of 2.6%. Importantly, these findings could be due to parental balanced translocations. No results cases had a higher incidence (74%) of chromosome abnormalities than POC studies (56%), particularly triploidy at a rate of 28% compared to 7.4% in POC studies, which carries a risk for gestational trophoblastic disease (GTD).

POC testing after NIPT allows providers to streamline the work-up for miscarriage, provide recurrence risks, guide maternal screening for GTD, and allow patients closure.

Introduction: Noninvasive prenatal screening (NIPT) is a sensitive screen focusing on common aneuploidies. Products of conception (POC) testing can detect all aneuploidies, uniparental disomy, triploidy and deletions/duplications.

Methods: POC and NIPT results for the same pregnancy were reviewed. POC testing was performed using Illumina CytoSNP-12b microarrays. For NIPT, cfDNA was amplified by massively-multiplexed PCR targeting 13,392 SNPs across chromosomes 13, 18, 21, X and Y.



Results: Of 25,432 POC cases, 22,103 had fetal results (87%): 9,712 normal, 12,391 abnormal (1,630 triploid, 575 deletions/duplications). 271 POC cases had prior NIPT: 181(66.8%) low-risk results, 40(14.8%) high-risk results, and 50(18.4%) no results (low fetal fraction/uninformative DNA).
For low-risk cases, 157/181 (86.7%) had concordant POC results, 23/181 (12.7%) had POC results undetectable by NIPT, including 8 cases of deletions/duplications (4.4%) and 1 triploidy (0.5%).

For high-risk cases, 39/40 (97.5%) were concordant. For no result cases, 37/50 (74%) had abnormal POC results, including 14 cases of triploidy (28%), and 2 deletions/duplications (4%).


Conclusion/Implications: In our study, low-risk cases had a 4.4% rate of deletions/duplications, almost double the overall POC incidence of 2.6%. Importantly, these findings could be due to parental balanced translocations. No results cases had a higher incidence (74%) of chromosome abnormalities than POC studies (56%), particularly triploidy at a rate of 28% compared to 7.4% in POC studies, which carries a risk for gestational trophoblastic disease (GTD).

POC testing after NIPT allows providers to streamline the work-up for miscarriage, provide recurrence risks, guide maternal screening for GTD, and allow patients closure.

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