First systematic experience of preimplantation genetic diagnosis for single-gene disorders, and/or preimplantation human leukocyte antigen typing, combined with 24-chromosome aneuploidy testing

Fertility and Sterility

Volumn 103, Issue 2, 2015, Pages 503-512

  Rechitsky, Svetlana ^a   Pakhalchuk, Tatiana ^a   San Ramos, Geraldine ^a   Goodman, Adam ^a   Zlatopolsky, Zev ^a   Kuliev, Anver ^a  

^a REPRODUCTIVE GENETICS INSTITUTE   (United States)

Author keywords

allele drop out (ADO) in whole genome amplification; blastocyst biopsy; Microarray based 24 chromosome aneuploidy testing; PGD for single gene disorders; preimplantation HLA typing; reproductive outcome

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; HEMOGLOBIN BETA CHAIN; PROTEIN S; HLA ANTIGEN;

24 CHROMOSOME ANEUPLOIDY TESTING; ACHONDROPLASIA; ADRENOLEUKODYSTROPHY; ADULT; AICARDI GOUTIERES SYNDROME; ALPERS DISEASE; ALPHA 1 ANTITRYPSIN DEFICIENCY; ALZHEIMER DISEASE; ARTHROGRYPOSIS; ARTICLE; BECKER MUSCULAR DYSTROPHY; BETA THALASSEMIA; BLASTOCYST; BLASTOMA; BREAST CANCER; CARNITINE DEFICIENCY; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY; CENTRONUCLEAR MYOPATHY; CHROMOSOME ANALYSIS; CHROMOSOME FRAGILE SITE; COLON POLYPOSIS; CONGENITAL ADRENAL HYPERPLASIA; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A; CONTROLLED STUDY; CREUTZFELDT JAKOB DISEASE; CROUZON SYNDROME; CYSTIC FIBROSIS; DIAGNOSTIC ACCURACY; DUCHENNE MUSCULAR DYSTROPHY; DYSCHONDROSTEOSIS; EHLERS DANLOS SYNDROME; EMBRYO; EMBRYO TRANSFER; EMERY DREIFUSS MUSCULAR DYSTROPHY; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FAMILIAL COLD AUTOINFLAMMATORY SYNDROME; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; FANCONI ANEMIA; FEASIBILITY STUDY; FEMALE; FRIEDREICH ATAXIA; GAUCHER DISEASE; GENE AMPLIFICATION; GENETIC DISORDER; GLYCOGEN STORAGE DISEASE; GM1 GANGLIOSIDOSIS; HEMOPHAGOCYTIC SYNDROME; HEMOPHILIA A; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY MULTIPLE EXOSTOSIS; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HLA TYPING; HOLT ORAM SYNDROME; HUMAN; HUNTINGTON CHOREA; HYPOHIDROTIC ECTODERMAL DYSPLASIA; JOUBERT SYNDROME; KIDNEY POLYCYSTIC DISEASE; LONG QT SYNDROME 2; MACHADO JOSEPH DISEASE; MAJOR CLINICAL STUDY; MAPLE SYRUP URINE DISEASE; MARFAN SYNDROME; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MICROARRAY ANALYSIS; MOSAICISM; MULTIPLE ENDOCRINE NEOPLASIA; MYOTONIC DYSTROPHY; NAIL PATELLA SYNDROME; NEMALINE MYOPATHY; NEUROFIBROMATOSIS; NEURONAL CEROID LIPOFUSCINOSIS; NIEMANN PICK DISEASE; NOONAN SYNDROME; NORRIE DISEASE; OCULOCUTANEOUS ALBINISM; ORNITHINE TRANSCARBAMYLASE DEFICIENCY; OSTEOGENESIS IMPERFECTA; OUTCOME ASSESSMENT; PEMPHIGUS VULGARIS; PERCEPTION DEAFNESS; PHENYLKETONURIA; PREGNANCY OUTCOME; PREIMPLANTATION GENETIC DIAGNOSIS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; PROTEIN S DEFICIENCY; RETINOBLASTOMA; RETINOSCHISIS; RETROSPECTIVE STUDY; RIEGER SYNDROME; SANDHOFF DISEASE; SICKLE CELL ANEMIA; SINGLE GENE DISORDER; SINGLE NUCLEOTIDE POLYMORPHISM; SPASTIC PARAPLEGIA; SPINAL MUSCULAR ATROPHY; SPONTANEOUS ABORTION; TELANGIECTASIA; THROMBOPHILIA; TOOTH DEVELOPMENT; TORSION DYSTONIA; TUBEROUS SCLEROSIS; VON HIPPEL LINDAU DISEASE; WAARDENBURG SYNDROME; WISKOTT ALDRICH SYNDROME; ANEUPLOIDY; GENETIC SCREENING; GENETICS; PREGNANCY; PROCEDURES;

ADULT; ANEUPLOIDY; FEMALE; GENETIC TESTING; HLA ANTIGENS; HUMANS; PREGNANCY; PREIMPLANTATION DIAGNOSIS; RETROSPECTIVE STUDIES;

EID: 84923254083     PISSN: 00150282     EISSN: 15565653     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2014.11.007     Document Type: Article

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