Prenatal diagnosis following preimplantation genetic testing (PGT): recommendations of the Italian Society of Human Genetics (SIGU)

被引：0

作者：

Grati, Francesca Romana ^{[1
]}

Capalbo, Antonio ^{[2
,3
]}

Gabbiato, Ilaria ^{[4
]}

Battaglia, Paola ^{[5
]}

Pittalis, Maria Carla ^{[5
]}

Bizzoco, Domenico ^{[6
]}

Cardarelli, Laura ^{[7
]}

Gatta, Valentina ^{[2
]}

Lonardo, Fortunato ^{[8
]}

Novelli, Antonio ^{[9
]}

Bernardini, Laura ^{[10
]}

Zuccarello, Daniela ^{[4
]}

talian Soc Human Genetics SIGU

机构：

[1] Menarini Silicon Biosyst, Reprod Precis Med Unit, Bologna, Italy

[2] Univ G dAnnunzio, CAST, Unita Genet Med, Chieti, Italy

[3] Juno Genet, Reprod Genet, Rome, Italy

[4] AULSS8 Berica, Med Genet & Genom Unit, Vicenza, Italy

[5] IRCCS Azienda Osped Univ Bologna, Med Genet Unit, Bologna, Italy

[6] MEDIGENE, Lab Genet, Rome, Italy

[7] RDI Grp Cerba HealthCare Italia, Limena, Padua, Italy

[8] AORN San Pio, UOSD Genet Med, Benevento, Italy

[9] IRCCS, Osped Bambino Gesu, UOC Lab Genet Med, Rome, Italy

[10] Casa Sollievo della Sofferenza Fdn, Med Genet Div, Foggia, FG, Italy

来源：

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS | 2025年 / 42卷 / 03期

关键词：

Embryo; PGT-M; PGT-SR; PGT-A; Mosaicism; Prenatal diagnosis; IMPLANTATION; MOSAICISM;

D O I：

10.1007/s10815-024-03358-5

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

This document aims to provide good practice recommendations in order to support maternal-foetal medicine specialists, clinical geneticists and clinical laboratory geneticists in the management of pregnancies obtained after the transfer of an embryo tested with preimplantation genetic testing (PGT). It was drafted by geneticists expert in preimplantation genetics and prenatal genetic diagnosis belonging to the "Working Group in Cytogenomics, Prenatal and Reproductive Genetics" of the "Italian Society of Human Genetics" (SIGU). In particular, the paper addresses the diagnostic algorithm to be applied in prenatal follow-up depending on the type of PGT performed, the results obtained and the related diagnostic value based on the most recent literature data and Italian and international recommendations.

引用

页码：1015 / 1024

页数：10

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