Pregnancy outcome after preimplantation genetic diagnosis in an affected couple with X-linked adrenoleukodystrophy

被引：4

作者：

Iglesias, Miriam ^{[1
]}

Ceballos, Patricia ^{[2
]}

Gimenez, Carles ^{[3
]}

Isabel Garcia-Nebreda, Maria ^{[1
]}

Dominguez, Raquel ^{[1
]}

Garcia-Enguidanos, Alberto ^{[2
]}

机构：

[1] Clin FIV Recoletos, Dept In Vitro Fertilizat, Ciudad Real, Spain

[2] Clin FIV Recoletos, Dept Human Reprod, Ciudad Real, Spain

[3] Reprogenet Spain, Dept Genet Diag, Barcelona, Spain

来源：

FERTILITY AND STERILITY | 2008年 / 90卷 / 05期

关键词：

X-ALD; pregnancy; PGD; FISH; prevention;

D O I：

10.1016/j.fertnstert.2008.02.011

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Objective: To achieve a pregnancy free of X-linked adrenoleukodystrophy (X-ALD) by intracytoplasmic sperm injection (ICSI) and preimplantation genetic diagnosis (PGD). Design: Case report. Setting: Clinica FIV Recoletos, a private IVF center. Patient(s): A couple in which the man had X-ALD. Intervention(s): The ICSI protocol and PGD of the obtained embryos. Main Outcome Measure(s): Blastomeres were analyzed by fluorescence in situ hybridization using sex selection techniques. Embryos were transferred and pregnancy was diagnosed by hCG analysis and ultrasonographic examination. Result(s): Ten embryos were obtained by ICSI. A biopsy was taken from eight embryos to perform PGD and two male embryos were transferred resulting in a twin pregnancy. Conclusion(s): This is the first registered gestation in which PGD has been used to prevent X-ALD transmission. (Fertil Steril (R) 2008;90:2010.e1-e3. (C)2008 by American Society for Reproductive Medicine.)

引用

页码：2010.e1 / 2010.e3

页数：3

共 50 条

[21] X-linked adrenoleukodystrophy
Aubourg, P
Mandel, JL
PEROXISOMES: BIOLOGY AND ROLE IN TOXICOLOGY AND DISEASE, 1996, 804 : 461 - 476
[22] Genetic analysis and prenatal diagnosis of 76 Chinese families with X-linked adrenoleukodystrophy
Liu, Siwen
Li, Lin
Wu, Hairong
Pei, Pei
Zheng, Xuefei
Pan, Hong
Bao, Xinhua
Qi, Yu
Ma, Yinan
MOLECULAR GENETICS & GENOMIC MEDICINE, 2022, 10 (01):
[23] The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis
Wiesinger, Christoph
Eichler, Florian S.
Berger, Johannes
APPLICATION OF CLINICAL GENETICS, 2015, 8 : 109 - 121
[24] Mri in diagnosis of X-linked adrenoleukodystrophy (X-ALD)
Muravina, T. I.
Serkov, S. V.
Bykova, O. V.
Mikhailova, S. V.
Zakharova, E. Yu.
EUROPEAN JOURNAL OF NEUROLOGY, 2006, 13 : 277 - 277
[25] Reproductive function in men affected by X-linked adrenoleukodystrophy/adrenomyeloneuropathy
Stradomska, T. J.
Kubalska, J.
Janas, R.
Tylki-Szymanska, A.
EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2012, 166 (02) : 291 - 294
[26] Mouse models and genetic modiflers in X-linked adrenoleukodystrophy
Heinzer, AK
McGuinness, MC
Lu, JF
Stine, OC
Wei, HM
Van der Vlies, M
Dong, GX
Powers, J
Watkins, PA
Smith, KD
PEROXISOMAL DISORDERS AND REGULATION OF GENES, 2003, 544 : 75 - 93
[27] An efficient genetic test for X-linked adrenoleukodystrophy.
Lachtermacher, MBR
Moser, A
Moser, H
Smith, KD
AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A255 - A255
[28] The value of the speech audiometry in diagnosis of X-linked adrenoleukodystrophy
Chen Jing-Jing
Zheng Yun
慢性疾病与转化医学（英文）, 2015, 1 (04) : 243 - 244
[29] X-linked Adrenoleukodystrophy (X-ALD) Adrenoleukodystrophy
Fenchel, M.
Korn, A.
Naegele, T.
Ernemann, U.
Horger, M.
ROFO-FORTSCHRITTE AUF DEM GEBIET DER RONTGENSTRAHLEN UND DER BILDGEBENDEN VERFAHREN, 2011, 183 (12): : 1093 - 1096
[30] Preimplantation genetic diagnosis of X-linked diseases examined by indirect linkage analysis
Borgulova, I
Putzova, M.
Soldatova, I
Krautova, L.
Pecnova, L.
Mika, J.
Kren, R.
Potuznikova, P.
Stejskal, D.
BRATISLAVA MEDICAL JOURNAL-BRATISLAVSKE LEKARSKE LISTY, 2015, 116 (09): : 542 - 546

← 1 2 3 4 5 →