The Experts below are selected from a list of 24 Experts worldwide ranked by ideXlab platform

Neeta L Vora - One of the best experts on this subject based on the ideXlab platform.

  • advances in Genetic Prenatal Diagnosis and screening
    Current Opinion in Pediatrics, 2014
    Co-Authors: Emily Hardisty, Neeta L Vora
    Abstract:

    Purpose of reviewPrenatal diagnostic and screening tests are routinely offered to all women in pregnancy. Advances in technology have led to an expansion in available testing. As technology improves, women are facing increasingly complex decisions regarding the quantity and quality of information th

Haruhiko Sago - One of the best experts on this subject based on the ideXlab platform.

  • low prevalence of Genetic Prenatal Diagnosis in japan
    Prenatal Diagnosis, 2011
    Co-Authors: Aiko Sasaki, Hideaki Sawai, Hideaki Masuzaki, Fumiki Hirahara, Haruhiko Sago
    Abstract:

    Aiko Sasaki1, Hideaki Sawai2, Hideaki Masuzaki3, Fumiki Hirahara4 and Haruhiko Sago1* 1Department of Maternal-Fetal and Neonatal Medicine, National Center for Child Health and Development, Tokyo, Japan 2Department of Obstetrics and Gynecology, Hyogo College of Medicine, Nishinomiya, Japan 3Department of Obstetrics and Gynecology, Nagasaki University, Nagasaki, Japan 4Department of Obstetrics and Gynecology, Yokohama City University, Yokohama, Japan

Sian Ellard - One of the best experts on this subject based on the ideXlab platform.

  • Molecular Genetic Prenatal Diagnosis for a case of autosomal recessive spondylocostal dysostosis
    Prenatal Diagnosis, 2003
    Co-Authors: Neil V. Whittock, Peter D. Turnpenny, J.h.a.m. Tuerlings, Sian Ellard
    Abstract:

    Autosomal recessive spondylocostal dysostosis type 1 (ARSCD1) is a member of the heterogeneous group of disorders termed the spondylocostal dysostoses that are characterized by multiple vertebral segmentation defects and rib anomalies. In these patients, the entire vertebral column is malformed and is replaced by multiple hemivertebrae giving rise to truncal shortening, abdominal protrusion and non-progressive spinal curvature. Genetic studies have shown that some cases of ARSCD are due to mutations in the somitogenesis gene, Delta-like 3 (DLL3), that encodes a ligand for the Notch signalling pathway—ARSCD type 1. To date, 17 different DLL3 gene mutations have been reported. A consanguineous family of Turkish origin with ARSCD type 1 due to a homozygous DLL3 mutation requested Genetic Prenatal Diagnosis. Using DNA from a chorionic villus sample, both linkage analysis of the DLL3/19q region and direct sequencing for the familial mutation demonstrated that the unborn fetus was an unaffected carrier. This is the first case of molecular Genetic Prenatal Diagnosis in any form of SCD. Copyright © 2003 John Wiley & Sons, Ltd.

Emily Hardisty - One of the best experts on this subject based on the ideXlab platform.

  • advances in Genetic Prenatal Diagnosis and screening
    Current Opinion in Pediatrics, 2014
    Co-Authors: Emily Hardisty, Neeta L Vora
    Abstract:

    Purpose of reviewPrenatal diagnostic and screening tests are routinely offered to all women in pregnancy. Advances in technology have led to an expansion in available testing. As technology improves, women are facing increasingly complex decisions regarding the quantity and quality of information th

Aiko Sasaki - One of the best experts on this subject based on the ideXlab platform.

  • low prevalence of Genetic Prenatal Diagnosis in japan
    Prenatal Diagnosis, 2011
    Co-Authors: Aiko Sasaki, Hideaki Sawai, Hideaki Masuzaki, Fumiki Hirahara, Haruhiko Sago
    Abstract:

    Aiko Sasaki1, Hideaki Sawai2, Hideaki Masuzaki3, Fumiki Hirahara4 and Haruhiko Sago1* 1Department of Maternal-Fetal and Neonatal Medicine, National Center for Child Health and Development, Tokyo, Japan 2Department of Obstetrics and Gynecology, Hyogo College of Medicine, Nishinomiya, Japan 3Department of Obstetrics and Gynecology, Nagasaki University, Nagasaki, Japan 4Department of Obstetrics and Gynecology, Yokohama City University, Yokohama, Japan