First Unaffected Pregnancy Using Preimplantation Genetic Diagnosis for Sickle Cell Anemia

Xu, Kangpu; Shi, Zhong Ming; Veeck, Lucinda L.; Hughes, Mark; Rosenwaks, Zev

doi:10.1001/jama.281.18.1701

Cited by 113 publications

(52 citation statements)

References 32 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…2004 -2009) indicates that out of 1.5 million marriage proposals, there had been a steadily increasing rate of marriage cancellations among at-risk couples (Memish and Saeed 2011). Among at-risk couples who continue to marry, other potential options include prenatal diagnosis and preimplantation diagnosis (Xu et al 1999).…”

Section: Prevention Of Sickle Cell Diseasementioning

confidence: 99%

The Natural History of Sickle Cell Disease

Serjeant¹

2013

Cold Spring Harbor Perspectives in Medicine

219

159

View full text Add to dashboard Cite

Section: Prevention Of Sickle Cell Diseasementioning

confidence: 99%

The Natural History of Sickle Cell Disease

Serjeant¹

2013

Cold Spring Harbor Perspectives in Medicine

219

159

View full text Add to dashboard Cite

“…Since 1992, recombinant gonadotrophins have been introduced to the ovarian hyperstimulation protocols [13]. 1999 marked the beginning of the preimplantation diagnostic processes [14], and first live birth after biopsy of the blastocyst occurred three years later [15]. In 2004, the first baby after orthotropic transplantation of cryopreserved ovarian tissue was born [16], allowing for the development of fertility preservation methods.…”

mentioning

confidence: 99%

Assisted reproductive technology in reproductive medicine — possibilities and limitations

Szamatowicz

2016

Ginekol Pol

View full text Add to dashboard Cite

Infertility has become an increasingly common health problem and has been estimated to affect approximately 10% of women in the reproductive age. Due to its high prevalence, it has been deemed a social disease by the World Health Organization (WHO). The causes of infertility are numerous and vary from person to person. As for treatment, the three main therapeutic strategies include pharmacological therapy, surgical therapy -mostly endoscopy, and assisted reproductive technology (ART). Recent decades have witnessed great progress in ART, resulting in successful treatment of the previously untreatable cases, particularly in the field of fertility preservation, preimplantation screening for aneuploidy, uterine transplantations and mitochondrial replacement techniques as prevention against a number of severe diseases. Regardless, ART treatment does not guarantee pregnancy and live birth. The success rate is much smaller as compared to the failure rate, it being among its most important limitations. Embryo implantation is an extremely complex process and represents the most critical step of the reproduction process in humans. Attempts to evaluate endometrial receptivity and strategies for its correction have been discussed. The search for new effective predictors of an individual prognosis remains a crucial challenge for the contemporary reproductive medicine.

show abstract

“…Fetal diagnosis is now simpler and more accurate but with the social and cultural concerns regarding termination of affected pregnancies, the family desires information on the likely clinical course which is currently almost impossible to predict. Preimplantation genetic diagnosis (Xu et al 1999) requires facilities for in vitro fertilisation which are limited in high-risk areas, are expensive and have success rates of 40-50 %, although its acceptability for sickle cell disease is expanding in the USA (Kuliev et al 2011). However, these technologies are not widely available in developing societies and neither prenatal diagnosis nor pre-implantation genetic diagnosis is currently offered in Jamaica.…”

Section: Discussionmentioning

confidence: 99%

Prevention of sickle cell disease: observations on females with the sickle cell trait from the Manchester project, Jamaica

Mason¹,

Gibson²,

Gardner³

et al. 2015

J Community Genet

View full text Add to dashboard Cite

Screening for haemoglobin genotype was offered to senior school students in Manchester parish in south central Jamaica to test whether this knowledge would influence choice of partner and reduce births with sickle cell disease. Over six academic years, 15,539 students, aged mostly 15-19 years, were screened with voluntary compliance rising from 56 to 92 % over this period. All subjects were given permanent genotype cards and carriers of abnormal genes were offered counselling which explained the reproductive options but avoided recommendations. Prior to screening, all had been offered illustrated lectures on the genetics and clinical features of sickle cell disease. The current study, confined to females with the sickle cell trait, interviewed 763/845 (90.3 %) subjects seeking to assess retention of this knowledge and their response to subsequent boyfriends. Of those interviewed, 42 subjects were excluded (38 emigrated, one died, three received incorrect genotype cards) leaving 721 with complete information. Knowledge of genotype was retained in 95 %, the outcome of future offspring correctly recalled in 91 %, and haemoglobin genotype cards were still possessed by 89 %. A current 'boyfriend' was acknowledged in 403 (56 %) of whom the partner's genotype was known in 88 (74 determined by the project laboratory; 14 by other laboratories) and unknown in 315 (78 %). Offers of free blood tests to all these partners were accepted by only 14 (4 %). Seventeen (2.4 %) were married but the husbands genotype was known in only five (four AA, one AS) of these. Most subjects retain knowledge of their genotype and of its significance for having affected children but the reluctance of partners to be tested was a major obstacle.

show abstract

First Unaffected Pregnancy Using Preimplantation Genetic Diagnosis for Sickle Cell Anemia

Abstract: This first unaffected pregnancy resulting from PGD for sickle cell anemia demonstrates that the technique can be a powerful diagnostic tool for carrier couples who desire a healthy child but wish to avoid the difficult decision of whether to abort an affected fetus.

Cited by 113 publications

References 32 publications

The Natural History of Sickle Cell Disease

The Natural History of Sickle Cell Disease

Assisted reproductive technology in reproductive medicine — possibilities and limitations

Prevention of sickle cell disease: observations on females with the sickle cell trait from the Manchester project, Jamaica

Contact Info

Product

Resources

About