Preimplantation genetic diagnosis for myotonic dystrophy type 1: upon request to child

Marjan De Rademaeker; Willem Verpoest; Martine De Rycke; Sara Seneca; Karen Sermon; Sonja Desmyttere; Maryse Bonduelle; Josianne Van der Elst; Paul Devroey; Inge Liebaers

doi:10.1038/ejhg.2009.56

Preimplantation genetic diagnosis for myotonic dystrophy type 1: upon request to child

Marjan De Rademaeker^*, Willem Verpoest, Martine De Rycke, Sara Seneca, Karen Sermon, Sonja Desmyttere, Maryse Bonduelle, Josianne Van der Elst, Paul Devroey, Inge Liebaers

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

Preimplantation genetic diagnosis (PGD) is an alternative to prenatal diagnosis for patients at risk of transmitting an inherited disease such as myotonic dystrophy type 1(DM1) to their offspring. In this paper, the clinical application of preimplantation diagnosis for DM1 upon request to children born is described in a large cohort of risk couples. PGD could be offered to all 78 couples opting for PGD regardless of the triplet repeat size. The incidence of major complications was minimalised following a careful assessment in affected DM1 females anticipating possible cardiological, obstetrical and anaesthetical problems. A live-birth delivery rate per cycle with oocyte retrieval of 20% was the outcome. Forty-eight of the 49 children born are in good health and have normal psychomotor development.

Original language	English
Pages (from-to)	1403-1410
Number of pages	8
Journal	European Journal of Human Genetics
Volume	17
Issue number	11
DOIs	https://doi.org/10.1038/ejhg.2009.56
Publication status	Published - Nov 2009
Externally published	Yes

Keywords

Adult
Female
Fertilization in Vitro
Genetic Testing
Humans
Myotonic Dystrophy/diagnosis
Pregnancy
Pregnancy Outcome
Preimplantation Diagnosis

Access to Document

10.1038/ejhg.2009.56

Cite this

@article{0a95c294607f43ab980ede14e32c0a44,

title = "Preimplantation genetic diagnosis for myotonic dystrophy type 1: upon request to child",

abstract = "Preimplantation genetic diagnosis (PGD) is an alternative to prenatal diagnosis for patients at risk of transmitting an inherited disease such as myotonic dystrophy type 1(DM1) to their offspring. In this paper, the clinical application of preimplantation diagnosis for DM1 upon request to children born is described in a large cohort of risk couples. PGD could be offered to all 78 couples opting for PGD regardless of the triplet repeat size. The incidence of major complications was minimalised following a careful assessment in affected DM1 females anticipating possible cardiological, obstetrical and anaesthetical problems. A live-birth delivery rate per cycle with oocyte retrieval of 20% was the outcome. Forty-eight of the 49 children born are in good health and have normal psychomotor development.",

keywords = "Adult, Female, Fertilization in Vitro, Genetic Testing, Humans, Myotonic Dystrophy/diagnosis, Pregnancy, Pregnancy Outcome, Preimplantation Diagnosis",

author = "{De Rademaeker}, Marjan and Willem Verpoest and {De Rycke}, Martine and Sara Seneca and Karen Sermon and Sonja Desmyttere and Maryse Bonduelle and {Van der Elst}, Josianne and Paul Devroey and Inge Liebaers",

year = "2009",

month = nov,

doi = "10.1038/ejhg.2009.56",

language = "English",

volume = "17",

pages = "1403--1410",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

number = "11",

}

TY - JOUR

T1 - Preimplantation genetic diagnosis for myotonic dystrophy type 1

T2 - upon request to child

AU - De Rademaeker, Marjan

AU - Verpoest, Willem

AU - De Rycke, Martine

AU - Seneca, Sara

AU - Sermon, Karen

AU - Desmyttere, Sonja

AU - Bonduelle, Maryse

AU - Van der Elst, Josianne

AU - Devroey, Paul

AU - Liebaers, Inge

PY - 2009/11

Y1 - 2009/11

N2 - Preimplantation genetic diagnosis (PGD) is an alternative to prenatal diagnosis for patients at risk of transmitting an inherited disease such as myotonic dystrophy type 1(DM1) to their offspring. In this paper, the clinical application of preimplantation diagnosis for DM1 upon request to children born is described in a large cohort of risk couples. PGD could be offered to all 78 couples opting for PGD regardless of the triplet repeat size. The incidence of major complications was minimalised following a careful assessment in affected DM1 females anticipating possible cardiological, obstetrical and anaesthetical problems. A live-birth delivery rate per cycle with oocyte retrieval of 20% was the outcome. Forty-eight of the 49 children born are in good health and have normal psychomotor development.

AB - Preimplantation genetic diagnosis (PGD) is an alternative to prenatal diagnosis for patients at risk of transmitting an inherited disease such as myotonic dystrophy type 1(DM1) to their offspring. In this paper, the clinical application of preimplantation diagnosis for DM1 upon request to children born is described in a large cohort of risk couples. PGD could be offered to all 78 couples opting for PGD regardless of the triplet repeat size. The incidence of major complications was minimalised following a careful assessment in affected DM1 females anticipating possible cardiological, obstetrical and anaesthetical problems. A live-birth delivery rate per cycle with oocyte retrieval of 20% was the outcome. Forty-eight of the 49 children born are in good health and have normal psychomotor development.

KW - Adult

KW - Female

KW - Fertilization in Vitro

KW - Genetic Testing

KW - Humans

KW - Myotonic Dystrophy/diagnosis

KW - Pregnancy

KW - Pregnancy Outcome

KW - Preimplantation Diagnosis

U2 - 10.1038/ejhg.2009.56

DO - 10.1038/ejhg.2009.56

M3 - Article

C2 - 19367318

SN - 1018-4813

VL - 17

SP - 1403

EP - 1410

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 11

ER -

Preimplantation genetic diagnosis for myotonic dystrophy type 1: upon request to child

Abstract

Keywords

Access to Document

Fingerprint

Cite this