Literature DB >> 18444225

Blastocyst trophectoderm biopsy and preimplantation genetic diagnosis for familial monogenic disorders and chromosomal translocations.

S J McArthur1, D Leigh, J T Marshall, A J Gee, K A De Boer, R P S Jansen.   

Abstract

OBJECTIVE: Modern in vitro fertilization practices involve transfer of embryos as blastocysts, when anabolic metabolism is well established and pregnancy rates can be maintained while transferring embryos singly to avoid multiple pregnancies. Embryo biopsy for preimplantation genetic diagnosis (PGD), however, is generally performed on day 3, when the embryo comprises just 6 to 8 cells, one or two of which are removed for testing. Implantation rates and clinical pregnancy rates have remained relatively low and a harmful effect from losing one or more cells from such early embryos has not been excluded.
METHODS: We performed a sequential study involving 399 egg retrievals and 1879 embryo biopsies for patients undergoing PGD to avoid a serious monogenic disease or an unbalanced chromosomal translocation. We compared implantation and viable pregnancy rates after biopsies taken on day 3 (cleavage-stage biopsy) with biopsies delayed until day 5 or 6, when the embryo is a blastocyst and 5 or more cells can be sampled from the trophectoderm while the inner cell mass, from which the fetus develops, remains intact. All embryos were transferred as blastocysts.
RESULTS: Despite fewer blastocysts than cleavage embryos biopsied and tested (3.6 compared to 6.6), implantation rates per embryo transferred were 43.4% if biopsied at the blastocyst stage and 25.6% if biopsied at the cleavage stage (P < 0.01), with ongoing or live-birth pregnancy rates per egg retrieval of 34.2% (average transfer number 1.1) for blastocyst biopsies and 25.5% (transfer number 1.6) for cleavage stage biopsies (P < 0.05, 1-tailed). The multiple pregnancy rate for monogenic disease exclusion fell from 16.7% to 2% (P = 0.04, 1-tailed).
CONCLUSIONS: For exclusion of genetic disease, day 5-6 blastocyst-stage biopsies are more likely to be followed by implantation and singleton births than is the case after PGD performed on day 3. 2008 John Wiley & Sons, Ltd

Entities:  

Mesh:

Year:  2008        PMID: 18444225     DOI: 10.1002/pd.1924

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  18 in total

1.  Singling out genetic disorders and disease.

Authors:  Martine De Rycke
Journal:  Genome Med       Date:  2010-10-06       Impact factor: 11.117

Review 2.  A new era in clinical genetic testing for hypertrophic cardiomyopathy.

Authors:  Matthew Wheeler; Aleksandra Pavlovic; Emil DeGoma; Heidi Salisbury; Colleen Brown; Euan A Ashley
Journal:  J Cardiovasc Transl Res       Date:  2009-10-30       Impact factor: 4.132

3.  Slow and ultrarapid cryopreservation of biopsied mouse blastocysts and its effect on DNA integrity index.

Authors:  Amr Kader; Tommaso Falcone; Rakesh K Sharma; Devna Mangrola; Ashok Agarwal
Journal:  J Assist Reprod Genet       Date:  2010-05-30       Impact factor: 3.412

Review 4.  Preimplantation genetic testing: indications and controversies.

Authors:  Amber R Cooper; Emily S Jungheim
Journal:  Clin Lab Med       Date:  2010-06-12       Impact factor: 1.935

5.  Day 5 expanded blastocysts transferred on same day have comparable outcome to those left for more extended culture and transferred on day 6.

Authors:  Eman Elgindy; Mervat Sheikh-El-Arab Elsedeek
Journal:  J Assist Reprod Genet       Date:  2012-07-31       Impact factor: 3.412

6.  Comprehensive analysis of karyotypic mosaicism between trophectoderm and inner cell mass.

Authors:  D S Johnson; C Cinnioglu; R Ross; A Filby; G Gemelos; M Hill; A Ryan; D Smotrich; M Rabinowitz; M J Murray
Journal:  Mol Hum Reprod       Date:  2010-07-19       Impact factor: 4.025

7.  Preimplantation genetic screening: an effective testing for infertile and repeated miscarriage patients?

Authors:  Ning Wang; Ying-Ming Zheng; Lei Li; Fan Jin
Journal:  Obstet Gynecol Int       Date:  2010-07-01

8.  Coxiella burnetii, the agent of Q fever, replicates within trophoblasts and induces a unique transcriptional response.

Authors:  Amira Ben Amara; Eric Ghigo; Yannick Le Priol; Catherine Lépolard; Suzana P Salcedo; Emmanuel Lemichez; Florence Bretelle; Christian Capo; Jean-Louis Mege
Journal:  PLoS One       Date:  2010-12-14       Impact factor: 3.240

Review 9.  Human germline genome editing.

Authors:  Rebecca A Lea; Kathy K Niakan
Journal:  Nat Cell Biol       Date:  2019-12-04       Impact factor: 28.824

10.  Use of comprehensive chromosomal screening for embryo assessment: microarrays and CGH.

Authors:  Dagan Wells; Samer Alfarawati; Elpida Fragouli
Journal:  Mol Hum Reprod       Date:  2008-10-28       Impact factor: 4.025

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.