Clinical applications of fetal sex determination in maternal blood in a preimplantation genetic diagnosis centre | Zendy

Gérard Tachdjian | Zendy

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Clinical applications of fetal sex determination in maternal blood in a preimplantation genetic diagnosis centre

Author(s) -

Gérard Tachdjian

Publication year - 2002

Publication title -

human reproduction

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.446

H-Index - 226

eISSN - 1460-2350

pISSN - 0268-1161

DOI - 10.1093/humrep/17.8.2183

Subject(s) - sexing , testis determining factor , fetus , obstetrics , concordance , chorionic villus sampling , pregnancy , preimplantation genetic diagnosis , gynecology , medicine , prenatal diagnosis , biology , y chromosome , genetics , gene

Couples with a risk of transmitting X-linked diseases who are included in a preimplantation genetic diagnosis (PGD) programme need early and rapid fetal sex determination in two situations. The first situation is for the control of embryo sexing after PGD and the second situation is for those couples having a spontaneous pregnancy before the start of their PGD cycle. Among invasive techniques, chorionic villus sampling is the earliest procedure for fetal sex determination and molecular analysis of X-linked genetic disorders during the first trimester but it is associated with a risk of fetal loss. Non-invasive procedures such as ultrasound examination allow reliable fetal sex determination only during the second trimester. Reliable fetal sex determination can now be realised by using SRY gene amplification in maternal blood.

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