Fetal aneuploidy diagnosed at celocentesis for early prenatal diagnosis of congenital hemoglobinopathies

Fetal aneuploidy diagnosed at celocentesis for early prenatal diagnosis of congenital... AbbreviationsCFcelomic fluidCVSchorionic villus samplingNIPTnon‐invasive prenatal diagnosis techniquesPGSpreimplantation genetic screeningQF‐PCRquantitative fluorescence polymerase chain reactionSTRshort tandem repeatKey messageCelocentesis is a procedure for invasive prenatal diagnosis that can be performed as early as the seventh week of gestation. Fetal cells contained in the celomic fluid may be used to identify single gene disorders or chromosome aneuploidies.IntroductionPrenatal diagnosis of monogenic diseases and fetal chromosomal abnormalities relies on obtaining fetal tissue by chorionic villus sampling (CVS) or amniocentesis performed after 11 and 16 weeks of gestation, respectively. In recent years, some investigators have attempted to make prenatal genetic diagnosis at a very early stage of pregnancy (7–9 weeks) using celomic fluid (CF) extracted from the celomic cavity .The celomic or extraembryonic cavity develops during the fourth week of gestation within the extraembryonic mesoderm . During the first 10 weeks of gestation, the celomic cavity is the largest space inside the gestational sac, surrounding both fetus and amniotic cavity, reaching maximum volume at 7–9 weeks and then subsequently disappearing at approximately 12 weeks. The exocelomic cavity can be clearly identified by ultrasound, and CF can be selectively aspirated from the seventh week of gestation with a success rate of >95% . Celocentesis involves the transvaginal insertion of a needle within http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Acta Obstetricia Et Gynecologica Scandinavica Wiley
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Publisher
Wiley Subscription Services, Inc., A Wiley Company
Copyright
Copyright © 2018 Acta Obstetricia et Gynecologica Scandinavica
ISSN
0001-6349
eISSN
1600-0412
D.O.I.
10.1111/aogs.13287
Publisher site
See Article on Publisher Site

Abstract

AbbreviationsCFcelomic fluidCVSchorionic villus samplingNIPTnon‐invasive prenatal diagnosis techniquesPGSpreimplantation genetic screeningQF‐PCRquantitative fluorescence polymerase chain reactionSTRshort tandem repeatKey messageCelocentesis is a procedure for invasive prenatal diagnosis that can be performed as early as the seventh week of gestation. Fetal cells contained in the celomic fluid may be used to identify single gene disorders or chromosome aneuploidies.IntroductionPrenatal diagnosis of monogenic diseases and fetal chromosomal abnormalities relies on obtaining fetal tissue by chorionic villus sampling (CVS) or amniocentesis performed after 11 and 16 weeks of gestation, respectively. In recent years, some investigators have attempted to make prenatal genetic diagnosis at a very early stage of pregnancy (7–9 weeks) using celomic fluid (CF) extracted from the celomic cavity .The celomic or extraembryonic cavity develops during the fourth week of gestation within the extraembryonic mesoderm . During the first 10 weeks of gestation, the celomic cavity is the largest space inside the gestational sac, surrounding both fetus and amniotic cavity, reaching maximum volume at 7–9 weeks and then subsequently disappearing at approximately 12 weeks. The exocelomic cavity can be clearly identified by ultrasound, and CF can be selectively aspirated from the seventh week of gestation with a success rate of >95% . Celocentesis involves the transvaginal insertion of a needle within

Journal

Acta Obstetricia Et Gynecologica ScandinavicaWiley

Published: Jan 1, 2018

Keywords: ; ; ; ; ; ;

References

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