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Article ; Online: Comment on "Expanded carrier screening for autosomal recessive conditions in health care: Arguments for a couple-based approach and examination of couples' views".

Palomaki, Glenn E / Haddow, James E

2019 Volume 39, Issue 11, Page(s) 1038

MeSH term(s)	Delivery of Health Care ; Dissent and Disputes ; Mass Screening
Language	English
Publishing date	2019-10-29
Publishing country	England
Document type	Letter ; Comment
ZDB-ID	82031-3
ISSN	1097-0223 ; 0197-3851
ISSN (online)	1097-0223
ISSN	0197-3851
DOI	10.1002/pd.5510
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Article ; Online: Screening for breast cancer by molecular testing for three founder mutations in the BRCA1 and BRCA2 genes among women of Ashkenazi Jewish heritage.

Palomaki, Glenn E

Journal of medical screening

2015 Volume 22, Issue 3, Page(s) 109–111

Language	English
Publishing date	2015-09
Publishing country	England
Document type	Editorial
ZDB-ID	1235253-6
ISSN	1475-5793 ; 0969-1413
ISSN (online)	1475-5793
ISSN	0969-1413
DOI	10.1177/0969141315579701
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Article ; Online: Numbers of prenatal cell-free DNA screens performed: Results of a 2022 CAP exercise.

Palomaki, Glenn E / Wyatt, Philip / Rowsey, Ross / Cacheris, Phillip Michael / Lepage, Nathalie / Natowicz, Marvin R / Long, Thomas / Moyer, Ann M

Prenatal diagnosis

2024

Abstract: Objective: Determine current analytical methods and number of cell-free (cf) DNA prenatal screening tests performed for common trisomies.: Methods: The College of American Pathologists 2022-B Noninvasive Prenatal Testing exercise was distributed in ... ...

Abstract	Objective: Determine current analytical methods and number of cell-free (cf) DNA prenatal screening tests performed for common trisomies. Methods: The College of American Pathologists 2022-B Noninvasive Prenatal Testing exercise was distributed in December 2022 to 93 participants in 22 countries. Supplemental questions included the number of tests performed in a recent month and the proportion of samples originating outside the United States (US). Results: Eighty-three participants from three continents returned results; 74 (89%) were suitable for the analyses. Nine manufacturer/platform combinations were identified, most commonly Illumina/Nextseq (55%). The most common methodology was whole genome sequencing (76%). Annualized cfDNA tests were 2.80 million, with Asian, European and North American participants representing 10.6%, 6.5% and 82.9% of tests, respectively. When restricted to US in-country tests, the annualized rate was 2.18 million, with four of 20 participants testing 79.2%. Among 73 respondents, 63 (86%) were for-profit, eight (11%) were non-profit academic or government supported and the remaining two included hospital-based and private non-profit. Eighteen (25%) supported relevant academic training. Conclusion: In 2011, screening for common trisomies was based on serum/ultrasound markers with an estimated 2.96 million US pregnancies screened in 131 laboratories. In 2022, cfDNA-based screening was offered by 20 laboratories testing 2.18 million US pregnancies.
Language	English
Publishing date	2024-04-15
Publishing country	England
Document type	Journal Article
ZDB-ID	82031-3
ISSN	1097-0223 ; 0197-3851
ISSN (online)	1097-0223
ISSN	0197-3851
DOI	10.1002/pd.6574
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Article ; Online: Is it time for BRCA1/2 mutation screening in the general adult population?: impact of population characteristics.

Palomaki, Glenn E

Genetics in medicine : official journal of the American College of Medical Genetics

2014 Volume 17, Issue 1, Page(s) 24–26

MeSH term(s)	Adult ; Breast Neoplasms/diagnosis ; Breast Neoplasms/epidemiology ; Breast Neoplasms/genetics ; Female ; Genes, BRCA1 ; Genes, BRCA2 ; Genetic Testing ; Humans ; Mass Screening ; Mutation ; Ovarian Neoplasms/diagnosis ; Ovarian Neoplasms/epidemiology ; Ovarian Neoplasms/genetics
Language	English
Publishing date	2014-11-06
Publishing country	United States
Document type	Letter
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1038/gim.2014.167
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Zs.A 5059: Show issues

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Article ; Online: Subclinical Hypothyroidism or Hypothyroxinemia in Pregnancy.

Haddow, James E / Palomaki, Glenn E

The New England journal of medicine

2017 Volume 377, Issue 7, Page(s) 700–701

MeSH term(s)	Female ; Humans ; Hypothyroidism ; Pregnancy ; Pregnancy Complications
Language	English
Publishing date	2017-08-07
Publishing country	United States
Document type	Letter ; Comment
ZDB-ID	207154-x
ISSN	1533-4406 ; 0028-4793
ISSN (online)	1533-4406
ISSN	0028-4793
DOI	10.1056/NEJMc1707415
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Article ; Online: Prenatal cell-free DNA screening test failures: a systematic review of failure rates, risks of Down syndrome, and impact of repeat testing.

Palomaki, Glenn E / Kloza, Edward M

Genetics in medicine : official journal of the American College of Medical Genetics

2018 Volume 20, Issue 11, Page(s) 1312–1323

Abstract: Purpose: We systematically reviewed the published literature on test failure rates for the sequencing of cell-free DNA (cfDNA) in maternal plasma to identify Down syndrome.: Methods: We searched peer-reviewed English publications with diagnostic ... ...

Abstract	Purpose: We systematically reviewed the published literature on test failure rates for the sequencing of cell-free DNA (cfDNA) in maternal plasma to identify Down syndrome. Methods: We searched peer-reviewed English publications with diagnostic results on all pregnancies that provided test failure rates. Data on the odds of failure in Down syndrome and euploid pregnancies and the impact of repeat testing were extracted. Random-effects modeling was then used to identify moderators that could explain variability. Results: Thirty articles satisfied the inclusion criteria for overall failure rates. Study location (Western and Asian with initial testing, and Western with repeat testing) were significant moderators with failure rates of 3.3, 0.6, and 1.2%, respectively (P = 0.001). The odds ratio for Down syndrome in successful versus failed tests was 0.98 (95% confidence interval: 0.62-1.55, I Conclusion: Lower failure rates in Asian studies may be related to not routinely measuring the fetal fraction and to fewer obese women. Repeat cfDNA testing is effective in providing reliable results after initial failures. Protocols for primary cfDNA screening should focus on Down syndrome, with less common and more structurally abnormal trisomy 18 and 13 pregnancies treated as adjuncts.
MeSH term(s)	Adult ; Cell-Free Nucleic Acids/blood ; Down Syndrome/blood ; Down Syndrome/genetics ; Down Syndrome/physiopathology ; Female ; Humans ; Maternal Age ; Pregnancy ; Pregnancy Trimester, First/genetics ; Prenatal Diagnosis/standards ; Risk Factors
Chemical Substances	Cell-Free Nucleic Acids
Language	English
Publishing date	2018-04-26
Publishing country	United States
Document type	Journal Article ; Systematic Review
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1038/gim.2018.22
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Zs.A 5059: Show issues

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Article ; Online: Confusion between analytic validity and clinical validity.

Palomaki, Glenn E / Haddow, James E

American journal of obstetrics and gynecology

2016 Volume 215, Issue 4, Page(s) 533–534

Language	English
Publishing date	2016-10
Publishing country	United States
Document type	Letter
ZDB-ID	80016-8
ISSN	1097-6868 ; 0002-9378
ISSN (online)	1097-6868
ISSN	0002-9378
DOI	10.1016/j.ajog.2016.06.008
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Um I Zs.152: Show issues

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Article ; Online: Assessment of a Simplified Cell-Free DNA Method for Prenatal Down Syndrome Screening.

Palomaki, Glenn E / Eklund, Elizabeth E / Kloza, Edward M / Lambert-Messerlian, Geralyn M

Clinical chemistry

2022 Volume 68, Issue 11, Page(s) 1449–1458

Abstract: Background: Prenatal screening for common trisomies via cell-free (cfDNA) is usually implemented by technologies utilizing massively parallel sequencing, stringent environmental controls, complex bioinformatics, and molecular expertise. An alternative ... ...

Abstract	Background: Prenatal screening for common trisomies via cell-free (cfDNA) is usually implemented by technologies utilizing massively parallel sequencing, stringent environmental controls, complex bioinformatics, and molecular expertise. An alternative and less complex methodology utilizes rolling circle amplification (RCA). Further evaluation of its performance and related requirements are warranted. Methods: At 16 sites, women at 10 to 20 weeks gestation provided informed consent, relevant information, and 2 to 3 blood samples. Samples shipped for testing were processed and stored. Women were enrolled at primary cfDNA screening, or following such screening at referral for diagnostic testing. RCA testing occurred post-enrollment, over 11 months. Diagnostic results and delivery notes determined clinical truth. Detection rates were based on confirmed trisomic pregnancies; false-positive rates were based on unaffected pregnancies from the general population. Results: Detection rate for the common trisomies was 95.9% (117/122, 95% CI, 90.5%-98.5%); overall false-positive rate was 1.00% (22/2,205, 0.65%-1.51%). Test failure rate after repeat testing was 0.04%. When assay standard deviations were below pre-specified levels, the overall false-positive rate was much lower at 0.30% (P < 0.001). Fetal sex calls were correct for 99.7%. One technician analyzed 560 samples over 2 weeks, a rate of 14 000/year. Conclusions: Our assessment of this simplified cfDNA-based system for prenatal screening for common trisomies performed in a prenatal screening laboratory is encouraging. Improved detection, low failure rates and rapid reporting can be achieved by collecting 2 samples. Future priorities should include achieving higher run precision using a single collection tube. Clinicaltrials.gov registration number: NCT03087357.
MeSH term(s)	Pregnancy ; Humans ; Female ; Down Syndrome/diagnosis ; Down Syndrome/genetics ; Trisomy ; Cell-Free Nucleic Acids ; Prenatal Diagnosis/methods ; Trisomy 13 Syndrome/diagnosis
Chemical Substances	Cell-Free Nucleic Acids
Language	English
Publishing date	2022-09-20
Publishing country	England
Document type	Journal Article
ZDB-ID	80102-1
ISSN	1530-8561 ; 0009-9147
ISSN (online)	1530-8561
ISSN	0009-9147
DOI	10.1093/clinchem/hvac131
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Article ; Online: Surveillance of SARS-CoV-2 Antibodies in Early 2020 among Rhode Island Pregnancies.

Hardy, Erica J / Palomaki, Glenn E / Sung, C James / Lambert-Messerlian, Geralyn M

Annals of clinical and laboratory science

2022 Volume 52, Issue 5, Page(s) 788–795

Abstract: Objective: Limited data are available on the performance of SARS-CoV-2 antibody assays and data collected during pregnancy vary widely. The objective of this study was to estimate the seroprevalence of antibodies against SARS-CoV-2 in pregnant ... ...

Abstract	Objective: Limited data are available on the performance of SARS-CoV-2 antibody assays and data collected during pregnancy vary widely. The objective of this study was to estimate the seroprevalence of antibodies against SARS-CoV-2 in pregnant individuals in Rhode Island and to evaluate whether the prevalence differed by month of collection, age, county of residence, or economic status as estimated by zip code. Methods: Pre-pandemic (2019) and early pandemic (2020) serum samples, collected for prenatal screening between 15 and 22 weeks of gestation, were analyzed utilizing two SARS-CoV-2 immunoglobulin G (IgG) automated assays that targeted the viral nucleocapsid (anti-N) or spike (anti-S) receptor binding domain proteins. Results: Among 756 pre-pandemic samples, one anti-S IgG and 13 anti-N IgG were identified. No samples were positive for both. Among 787 pandemic specimens, 16 (2.03%) were positive for both anti-N IgG and anti-S IgG. When stratified by month of collection, there was a significant increase in seropositivity rate ( Conclusions: When a positive result was defined as both anti-N IgG and anti-S IgG, false positives were unlikely. Based on this methodology, serology could be utilized to monitor infection trends during pregnancy.
MeSH term(s)	Humans ; Pregnancy ; Female ; SARS-CoV-2 ; Spike Glycoprotein, Coronavirus ; Seroepidemiologic Studies ; Rhode Island/epidemiology ; COVID-19/epidemiology ; Immunoglobulin G ; Antibodies, Viral
Chemical Substances	Spike Glycoprotein, Coronavirus ; Immunoglobulin G ; Antibodies, Viral ; spike protein, SARS-CoV-2
Language	English
Publishing date	2022-10-19
Publishing country	United States
Document type	Journal Article
ZDB-ID	193092-8
ISSN	1550-8080 ; 0091-7370 ; 0095-8905
ISSN (online)	1550-8080
ISSN	0091-7370 ; 0095-8905
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Article ; Online: Cell-free DNA-based prenatal screening via rolling circle amplification: Identifying and resolving analytic issues.

Palomaki, Glenn E / Lambert-Messerlian, Geralyn M / Fullerton, Donna / Hegde, Madhuri / Conotte, Stéphanie / Saidel, Matthew L / Jani, Jacques C

Journal of medical screening

2023 Volume 30, Issue 4, Page(s) 168–174

Abstract: Objective: A rolling circle amplification (RCA) based commercial methodology using cell-free (cf)DNA to screen for common trisomies became available in 2018. Relevant publications documented high detection but with a higher than expected 1% false ... ...

Abstract	Objective: A rolling circle amplification (RCA) based commercial methodology using cell-free (cf)DNA to screen for common trisomies became available in 2018. Relevant publications documented high detection but with a higher than expected 1% false positive rate. Preliminary evidence suggested assay variability was an issue. A multi-center collaboration was created to explore this further and examine whether subsequent manufacturer changes were effective. Methods: Three academic (four devices) and two commercial (two devices) laboratories provided run date, chromosome 21, 18, and 13 run-specific standard deviations, number of samples run, and reagent lot identifications. Temporal trends and between-site/device consistency were explored. Proportions of run standard deviations exceeding pre-specified caps of 0.4%, 0.4% and 0.6% were computed. Results: Overall, 661 RCA runs between April 2019 and July 30, 2022 tested 39,756 samples. In the first 24, subsequent 9, and final 7 months, proportions of capped chromosome 21 runs dropped from 39% to 22% to 6.0%; for chromosome 18, rates were 76%, 36%, and 4.0%. Few chromosome 13 runs were capped using the original 0.60%, but capping at 0.50%, rates were 28%, 16%, and 7.6%. Final rates occurred after reformulated reagents and imaging software modifications were fully implemented across all devices. Revised detection and false positive rates are estimated at 98.4% and 0.3%, respectively. After repeat testing, failure rates may be as low as 0.3%. Conclusion: Current RCA-based screening performance estimates are equivalent to those reported for other methods, but with a lower test failure rate after repeat testing.
MeSH term(s)	Pregnancy ; Female ; Humans ; Cell-Free Nucleic Acids/genetics ; Early Detection of Cancer ; Prenatal Diagnosis/methods ; Trisomy/diagnosis ; Trisomy/genetics
Chemical Substances	Cell-Free Nucleic Acids
Language	English
Publishing date	2023-05-17
Publishing country	England
Document type	Journal Article
ZDB-ID	1235253-6
ISSN	1475-5793 ; 0969-1413
ISSN (online)	1475-5793
ISSN	0969-1413
DOI	10.1177/09691413231173315
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