How Do Carriers of Hemophilia Experience Prenatal Diagnosis (PND)?<i>Carriers’Immediate and Later Reactions to Amniocentesis and Fetal Blood Sampling</i>

Tedgård, U.; Ljung, Rolf; McNeil, Thomas F.; Tedgård, Ulf; Schwartz, Marianne

doi:10.1111/j.1651-2227.1989.tb11128.x

Cited by 22 publications

(29 citation statements)

References 26 publications

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“…The number of carriers of severe and moderate haemophilia in Sweden who request PD can be estimated from this and previous studies (Tedga Êrd et al, 1989(Tedga Êrd et al, , 1999Ljung et al, 1995). In the current study 37 carriers had requested PD by fetal blood sampling (FBS) or chorionic villus sampling (CVS) and gene analysis and we are aware of 17 more carriers in this age group, who have requested the same types of PD.…”

Section: Discussionmentioning

confidence: 98%

Reproductive choices of haemophilia carriers

1999

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Summary. The actual reproductive choices made by slightly over a quarter of all the carriers of severe or moderate haemophilia in Sweden were investigated and compared with those of a randomly selected age-matched group of women who were not carriers of haemophilia. In general, the 105 carriers had the same number of children as other women of similar age. However, carriers who did not choose prenatal diagnosis (PD) often abstained from further pregnancies after the birth of a haemophilic child, and they had signi®cantly fewer children than the remainder of the carriers, as well as fewer children than women in the control group. Logistic regression analysis showed choice of PD to be correlated to a positive attitude towards abortion following PD and a family history of haemophilia. Carriers who have experienced the complications of haemophilia or its treatment appear to be more in favour of PD than women whose haemophilic children have received modern treatment without complications.

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Section: Discussionmentioning

confidence: 98%

Reproductive choices of haemophilia carriers

1999

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“…[8][9][10][11][12] The ethical issues raised by prenatal diagnoses are particularly delicate today in countries where the disease can be successfully managed with regular replacement therapy. [13] …”

Section: Genetic Counselingmentioning

confidence: 97%

Treatment Strategies in Children with Hemophilia

Petrini

2002

Pediatric Drugs

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Hemophilia is an inherited bleeding disorder caused by quantitative or qualitative defects in the synthesis of factor VIII (FVIII) or factor IX (FIX). Clinically, it is divided into severe, moderate and mild disease depending on the levels of FVIII or FIX in the blood. The bleeding tendency is most pronounced and can start at a very young age in severe hemophilia, which is characterized by repeated hemorrhage into the joints and muscles. Without treatment, these episodes lead to severe arthropathy, and there is also a high risk of lethal cerebral hemorrhage. The treatment of bleeding symptoms requires the correction of the coagulation defect. Factor concentrates have been available for 30 years, initially with the development of cryoprecipitate, subsequently with increasingly purified plasma-derived forms, and ultimately with recombinant clotting factor concentrates. The advantage of this highly effective therapy has been subdued by the outbreak of HIV and Hepatitis C infections in patients with hemophilia treated with factor concentrates which did not have adequate viral inactivation steps in the purification process. Plasma-derived and recombinant factor concentrates are today considered to have a good safety profile, but are only available for a small group of hemophilia patients worldwide. A multidisciplinary team approach is important for early diagnosis, communication with the patient and parents, and to tailor the best treatment possible with the amount of clotting factor concentrates available. The main goal of hemophilia treatment is to prevent bleeding symptoms and allow normal integration in social life. In patients with severe hemophilia, this can best be achieved by early home treatment and primary prophylaxis. Future developments in gene therapy may transform severe hemophilia to a mild form, with no need for regular injections of clotting factor concentrates.

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“…Women who undergo PD because of a previously established high genetic risk that their offspring will have haemophilia are exposed to varying degrees of psychological stress associated with the diagnosis [1, 2]. Tedgård et al .…”

Section: Genetic Counsellingmentioning

confidence: 99%

“…In skilled hands the method is considered to be associated with a 1–2% risk to the foetus. The great disadvantage of diagnosis in the second trimester is that pregnancies with an affected foetus must be terminated at a late stage when most gravidae have already felt foetal movements, and is thus associated with severe distress [2].…”

Section: Prenatal Diagnostic Techniquesmentioning

confidence: 99%

Prenatal diagnosis of haemophilia

Ljung

1999

Haemophilia

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Genotype assessment based on direct identification of the pathogenic mutation in a chorionic villi sample obtained in the 11-12th gestational week is the most reliable method for prenatal diagnosis and should be used if available. Genetic linkage studies of polymorphisms should be the second choice in the assessment of carriers and in prenatal diagnosis. Carriers of haemophilia should be offered adequate psychosocial support before, during and after the prenatal diagnostic procedures.

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How Do Carriers of Hemophilia Experience Prenatal Diagnosis (PND)?Carriers’Immediate and Later Reactions to Amniocentesis and Fetal Blood Sampling

Cited by 22 publications

References 26 publications

Reproductive choices of haemophilia carriers

Reproductive choices of haemophilia carriers

Treatment Strategies in Children with Hemophilia

Prenatal diagnosis of haemophilia

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