Evidence-Based Reporting in Preimplantation Genetic Testing (PGT) Article Swipe

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Maurizio Poli , Ludovica Picchetta , Luisa Siciliani , Antonio Capalbo ·

YOU? · · 2025 · Open Access · · DOI: https://doi.org/10.3390/genes16091083

Preimplantation genetic testing (PGT) reports play a decisive role in determining the fate of IVF-generated embryos. The identification of a chromosomal or genetic abnormality that could impact the health of the resulting newborn often leads to embryo disposal or indefinite storage in cryogenic containers. As a growing proportion of IVF cycles include PGT assessment, greater scrutiny is being placed on its clinical validity. Initially developed to detect monogenic disorders (PGT-M) and later expanded to identify full chromosomal aneuploidies, PGT is primarily used to identify embryos unlikely to implant (aneuploid), those that would lead to miscarriage, or those causing chromosomal syndromes or monogenic conditions. Advancements in genetic analysis now allow for the assessment of more complex traits and chromosomal features from a trophectoderm biopsy, including segmental aneuploidies, chromosomal mosaicism, and polygenic conditions. However, as technology pushes the limits of biological resolution, questions arise regarding the accuracy, clinical utility, and representativeness of these findings for the entire embryo. This article reviews the gold standards for validating clinical findings and reporting strategies, aiming to maximize diagnostic utility while minimizing false positives towards appropriately defined reproductive outcomes and phenotypes.

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Type: review
Language: en
Landing Page: https://doi.org/10.3390/genes16091083
PDF: https://www.mdpi.com/2073-4425/16/9/1083/pdf?version=1757930052
OA Status: gold
References: 47
OpenAlex ID: https://openalex.org/W4414208187

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DOI: https://doi.org/10.3390/genes16091083

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Title: Evidence-Based Reporting in Preimplantation Genetic Testing (PGT)

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Publication year: 2025

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Publication date: 2025-09-15

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Authors: Maurizio Poli, Ludovica Picchetta, Luisa Siciliani, Antonio Capalbo

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Landing page: https://doi.org/10.3390/genes16091083

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abstract_inverted_index.full	75
abstract_inverted_index.gold	160
abstract_inverted_index.lead	92
abstract_inverted_index.more	113
abstract_inverted_index.play	5
abstract_inverted_index.role	8
abstract_inverted_index.that	24, 90
abstract_inverted_index.used	81
abstract_inverted_index.(PGT)	3
abstract_inverted_index.allow	108
abstract_inverted_index.arise	141
abstract_inverted_index.being	57
abstract_inverted_index.could	25
abstract_inverted_index.false	176
abstract_inverted_index.later	71
abstract_inverted_index.leads	34
abstract_inverted_index.often	33
abstract_inverted_index.these	150
abstract_inverted_index.those	89, 96
abstract_inverted_index.while	174
abstract_inverted_index.would	91
abstract_inverted_index.aiming	169
abstract_inverted_index.cycles	50
abstract_inverted_index.detect	66
abstract_inverted_index.embryo	36
abstract_inverted_index.entire	154
abstract_inverted_index.health	28
abstract_inverted_index.impact	26
abstract_inverted_index.limits	136
abstract_inverted_index.placed	58
abstract_inverted_index.pushes	134
abstract_inverted_index.traits	115
abstract_inverted_index.(PGT-M)	69
abstract_inverted_index.article	157
abstract_inverted_index.biopsy,	122
abstract_inverted_index.causing	97
abstract_inverted_index.complex	114
abstract_inverted_index.defined	180
abstract_inverted_index.embryo.	155
abstract_inverted_index.embryos	84
abstract_inverted_index.genetic	1, 22, 105
abstract_inverted_index.greater	54
abstract_inverted_index.growing	46
abstract_inverted_index.implant	87
abstract_inverted_index.include	51
abstract_inverted_index.newborn	32
abstract_inverted_index.reports	4
abstract_inverted_index.reviews	158
abstract_inverted_index.storage	40
abstract_inverted_index.testing	2
abstract_inverted_index.towards	178
abstract_inverted_index.utility	173
abstract_inverted_index.However,	131
abstract_inverted_index.analysis	106
abstract_inverted_index.clinical	61, 145, 164
abstract_inverted_index.decisive	7
abstract_inverted_index.disposal	37
abstract_inverted_index.embryos.	15
abstract_inverted_index.expanded	72
abstract_inverted_index.features	118
abstract_inverted_index.findings	151, 165
abstract_inverted_index.identify	74, 83
abstract_inverted_index.maximize	171
abstract_inverted_index.outcomes	182
abstract_inverted_index.scrutiny	55
abstract_inverted_index.unlikely	85
abstract_inverted_index.utility,	146
abstract_inverted_index.Initially	63
abstract_inverted_index.accuracy,	144
abstract_inverted_index.cryogenic	42
abstract_inverted_index.developed	64
abstract_inverted_index.disorders	68
abstract_inverted_index.including	123
abstract_inverted_index.monogenic	67, 101
abstract_inverted_index.polygenic	129
abstract_inverted_index.positives	177
abstract_inverted_index.primarily	80
abstract_inverted_index.questions	140
abstract_inverted_index.regarding	142
abstract_inverted_index.reporting	167
abstract_inverted_index.resulting	31
abstract_inverted_index.segmental	124
abstract_inverted_index.standards	161
abstract_inverted_index.syndromes	99
abstract_inverted_index.validity.	62
abstract_inverted_index.assessment	111
abstract_inverted_index.biological	138
abstract_inverted_index.diagnostic	172
abstract_inverted_index.indefinite	39
abstract_inverted_index.minimizing	175
abstract_inverted_index.mosaicism,	127
abstract_inverted_index.proportion	47
abstract_inverted_index.technology	133
abstract_inverted_index.validating	163
abstract_inverted_index.abnormality	23
abstract_inverted_index.assessment,	53
abstract_inverted_index.chromosomal	20, 76, 98, 117, 126
abstract_inverted_index.conditions.	102, 130
abstract_inverted_index.containers.	43
abstract_inverted_index.determining	10
abstract_inverted_index.phenotypes.	184
abstract_inverted_index.resolution,	139
abstract_inverted_index.strategies,	168
abstract_inverted_index.(aneuploid),	88
abstract_inverted_index.Advancements	103
abstract_inverted_index.miscarriage,	94
abstract_inverted_index.reproductive	181
abstract_inverted_index.IVF-generated	14
abstract_inverted_index.aneuploidies,	77, 125
abstract_inverted_index.appropriately	179
abstract_inverted_index.trophectoderm	121
abstract_inverted_index.identification	17
abstract_inverted_index.Preimplantation	0
abstract_inverted_index.representativeness	148
cited_by_percentile_year
corresponding_author_ids	https://openalex.org/A5057688316
countries_distinct_count	2
institutions_distinct_count	4
corresponding_institution_ids	https://openalex.org/I39387349, https://openalex.org/I4210166036
citation_normalized_percentile.value	0.45803566
citation_normalized_percentile.is_in_top_1_percent	False
citation_normalized_percentile.is_in_top_10_percent	True