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1
A systematic review and meta-analysis of cell-free DNA testing for detection of fetal sex chromosome aneuploidy
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A systematic review and meta-analysis of cell-free DNA testing for detection of fetal sex chromosome aneuploidy

Prenatal diagnosis, 2023-02, Vol.43 (2), p.133 [Peer Reviewed Journal]

2023 John Wiley & Sons Ltd. ;EISSN: 1097-0223 ;DOI: 10.1002/pd.6298 ;PMID: 36588186

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2
Non-invasive prenatal screening versus prenatal diagnosis by array comparative genomic hybridization: a comparative retrospective study
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Non-invasive prenatal screening versus prenatal diagnosis by array comparative genomic hybridization: a comparative retrospective study

Prenatal diagnosis, 2017-06, Vol.37 (6), p.583 [Peer Reviewed Journal]

2017 John Wiley & Sons, Ltd. ;EISSN: 1097-0223 ;DOI: 10.1002/pd.5051 ;PMID: 28406537

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3
High false-positive non-invasive prenatal screening results for sex chromosome abnormalities: Are maternal factors the culprit?
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High false-positive non-invasive prenatal screening results for sex chromosome abnormalities: Are maternal factors the culprit?

Prenatal diagnosis, 2020-03, Vol.40 (4), p.463 [Peer Reviewed Journal]

2019 John Wiley & Sons, Ltd. ;EISSN: 1097-0223 ;DOI: 10.1002/pd.5529 ;PMID: 31318441

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4
Implications of fetoplacental mosaicism on cell-free DNA testing for sex chromosome aneuploidies
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Implications of fetoplacental mosaicism on cell-free DNA testing for sex chromosome aneuploidies

Prenatal diagnosis, 2017-10, Vol.37 (10), p.1017 [Peer Reviewed Journal]

2017 John Wiley & Sons, Ltd. ;EISSN: 1097-0223 ;DOI: 10.1002/pd.5138 ;PMID: 28801976

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5
Sex chromosome aneuploidy detection by noninvasive prenatal testing: helpful or hazardous?
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Sex chromosome aneuploidy detection by noninvasive prenatal testing: helpful or hazardous?

Prenatal diagnosis, 2017-05, Vol.37 (5), p.515 [Peer Reviewed Journal]

2017 John Wiley & Sons, Ltd. ;EISSN: 1097-0223 ;DOI: 10.1002/pd.5039 ;PMID: 28326560

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6
Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)
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Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)

Prenatal diagnosis, 2022-12, Vol.42 (13), p.1575 [Peer Reviewed Journal]

2022 John Wiley & Sons Ltd. ;EISSN: 1097-0223 ;DOI: 10.1002/pd.6271 ;PMID: 36403097

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7
Discordant non-invasive prenatal testing (NIPT) - a systematic review
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Discordant non-invasive prenatal testing (NIPT) - a systematic review

Prenatal diagnosis, 2017-06, Vol.37 (6), p.527 [Peer Reviewed Journal]

2017 John Wiley & Sons, Ltd. ;EISSN: 1097-0223 ;DOI: 10.1002/pd.5049 ;PMID: 28382695

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8
Performance of a cell-free DNA prenatal screening test, choice of prenatal procedure, and chromosome conditions identified during pregnancy after low-risk cell-free DNA screening
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Performance of a cell-free DNA prenatal screening test, choice of prenatal procedure, and chromosome conditions identified during pregnancy after low-risk cell-free DNA screening

Prenatal diagnosis, 2023-02, Vol.43 (2), p.213 [Peer Reviewed Journal]

2023 John Wiley & Sons Ltd. ;EISSN: 1097-0223 ;DOI: 10.1002/pd.6307 ;PMID: 36617980

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9
Reducing false positive rate of fetal monosomy X in non-invasive prenatal testing using a combined algorithm to detect maternal mosaic monosomy X
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Reducing false positive rate of fetal monosomy X in non-invasive prenatal testing using a combined algorithm to detect maternal mosaic monosomy X

Prenatal diagnosis, 2019-03, Vol.39 (4), p.324 [Peer Reviewed Journal]

EISSN: 1097-0223 ;DOI: 10.1002/pd.5430 ;PMID: 30719744

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10
Multicenter clinical experience with non-invasive cell-free DNA screening for monosomy X and related X-chromosome variants
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Multicenter clinical experience with non-invasive cell-free DNA screening for monosomy X and related X-chromosome variants

Prenatal diagnosis, 2023-02, Vol.43 (2), p.192 [Peer Reviewed Journal]

2023 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd. ;EISSN: 1097-0223 ;DOI: 10.1002/pd.6320 ;PMID: 36726284

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11
Chromosomal aberrations and CNVs in twin fetuses with cardiovascular anomalies: Comparison between monochorionic diamniotic and dichorionic diamniotic twins
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Chromosomal aberrations and CNVs in twin fetuses with cardiovascular anomalies: Comparison between monochorionic diamniotic and dichorionic diamniotic twins

Prenatal diagnosis, 2018-04, Vol.38 (5), p.318 [Peer Reviewed Journal]

2018 John Wiley & Sons, Ltd. ;EISSN: 1097-0223 ;DOI: 10.1002/pd.5238 ;PMID: 29460287

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12
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience
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All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience

Prenatal diagnosis, 2023-04, Vol.43 (4), p.527 [Peer Reviewed Journal]

2023 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd. ;EISSN: 1097-0223 ;DOI: 10.1002/pd.6314 ;PMID: 36647814

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13
Triploidy - variability of sonographic phenotypes
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Triploidy - variability of sonographic phenotypes

Prenatal diagnosis, 2017-08, Vol.37 (8), p.774 [Peer Reviewed Journal]

2017 John Wiley & Sons, Ltd. ;EISSN: 1097-0223 ;DOI: 10.1002/pd.5080 ;PMID: 28573747

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14
Noninvasive single-cell-based prenatal genetic testing: A proof of concept clinical study
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Noninvasive single-cell-based prenatal genetic testing: A proof of concept clinical study

Prenatal diagnosis, 2024-03, Vol.44 (3), p.304 [Peer Reviewed Journal]

2024 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd. ;EISSN: 1097-0223 ;DOI: 10.1002/pd.6529 ;PMID: 38411249

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15
Genetic syndromes associated with isolated fetal growth restriction
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Genetic syndromes associated with isolated fetal growth restriction

Prenatal diagnosis, 2020-03, Vol.40 (4), p.432 [Peer Reviewed Journal]

2019 John Wiley & Sons, Ltd. ;EISSN: 1097-0223 ;DOI: 10.1002/pd.5635 ;PMID: 31891188

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16
The clinical utility of genome-wide non invasive prenatal screening
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The clinical utility of genome-wide non invasive prenatal screening

Prenatal diagnosis, 2017-06, Vol.37 (6), p.593 [Peer Reviewed Journal]

2017 John Wiley & Sons, Ltd. ;EISSN: 1097-0223 ;DOI: 10.1002/pd.5053 ;PMID: 28423190

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17
Parents' perspectives on the unforeseen finding of a fetal sex chromosomal aneuploidy
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Parents' perspectives on the unforeseen finding of a fetal sex chromosomal aneuploidy

Prenatal diagnosis, 2011-03, Vol.31 (3), p.286-292 [Peer Reviewed Journal]

Copyright © 2011 John Wiley & Sons, Ltd. ;ISSN: 0197-3851 ;ISSN: 1097-0223 ;EISSN: 1097-0223 ;DOI: 10.1002/pd.2707 ;PMID: 21294136

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18
International Society for Prenatal Diagnosis Updated Position Statement on the use of genome-wide sequencing for prenatal diagnosis
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International Society for Prenatal Diagnosis Updated Position Statement on the use of genome-wide sequencing for prenatal diagnosis

Prenatal diagnosis, 2022-05, Vol.42 (6), p.796 [Peer Reviewed Journal]

2022 John Wiley & Sons Ltd. ;EISSN: 1097-0223 ;DOI: 10.1002/pd.6157 ;PMID: 35583085

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19
Identification of fetal aneuploidy with dual-probe fluorescence in situ hybridization analysis in circulating trophoblasts after enrichment using a high-sensitivity microfluidic platform
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Identification of fetal aneuploidy with dual-probe fluorescence in situ hybridization analysis in circulating trophoblasts after enrichment using a high-sensitivity microfluidic platform

Prenatal diagnosis, 2021-12, Vol.41 (13), p.1701 [Peer Reviewed Journal]

2021 John Wiley & Sons Ltd. ;EISSN: 1097-0223 ;DOI: 10.1002/pd.6046 ;PMID: 34582049

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20
Pregnant women with confirmed neoplasms should not have noninvasive prenatal testing
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Pregnant women with confirmed neoplasms should not have noninvasive prenatal testing

Prenatal diagnosis, 2019-11, Vol.39 (12), p.1162 [Peer Reviewed Journal]

EISSN: 1097-0223 ;DOI: 10.1002/pd.5544 ;PMID: 31393011

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