Prenatal diagnosis of haemophilia

Ljung, Rolf

doi:10.1046/j.1365-2516.1999.00295.x

Cited by 22 publications

(21 citation statements)

References 18 publications

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“…The risk of diagnostic error is approximately 5% for every meiotic event [14,15]. RFLP intragenic markers contain Bcl I/Intron 18, Hin dIII/Intron 19, Xba I/Intron 22, Bgl I/DXS13, Msp I/3′ of exon 26 and Taq I/5′ flanking region [8]. Another marker is a class of STR sequences in multisatellite loci.…”

Section: Discussionmentioning

confidence: 99%

Identification of new dinucleotide‐repeat polymorphisms in factor VIII gene using fluorescent PCR

et al. 2005

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Haemophilia A is an X-linked inherited bleeding disorder. Linkage diagnosis using polymorphic markers in the factor VIII gene is used to archive the carrier detection and prenatal diagnosis. The objective of this study was to establish the allele frequency and heterozygosity rate (HR) of two new intragenic markers (Intron 1 and 24) and other markers (Intron 13 and 22) using fluorescent PCR. Five hundred unrelated healthy women were screened and haemophilic family was studied for carrier detection and prenatal diagnosis. We observed five different alleles of Intron 1, 10 of Intron 24, nine of Intron 13 and six of Intron 22. The observed HR for Intron 1, 24, 13 and 22 were 34.0, 35.2, 53.0 and 42.6%, while the expected HR were 33.6, 36.3, 50.1 and 44.3%, respectively. Heterozygosity rate with the combined use of all four intragenic markers was 76.6% (383/500). In prenatal diagnosis of a haemophilic family, a pregnant woman was heterozygous with three intragenic (Intron 1, 13 and 22) and one extragenic St14 VNTR (DXS52) markers. She was considered to be a carrier, and she carried a male foetus by AMXY PCR and chromosome analysis of amniocytes. Foetus did not have mutant haplotype as his uncle, suggesting a normal male status. Our study demonstrates the utility of two new intragenic markers in FVIII gene for carrier detection and prenatal diagnosis of haemophilic families.

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Section: Discussionmentioning

confidence: 99%

Identification of new dinucleotide‐repeat polymorphisms in factor VIII gene using fluorescent PCR

et al. 2005

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“…In the first trimester of pregnancy, chorionic villus sampling is the method most widely used not only to determine fetal sex, but also to determine whether or not a male fetus is affected. It is performed at 11±13 weeks of gestation and yields results within 24± 48 h for restriction fragment length polymorphisms (RFLPs) and polymerase chain reaction (PCR), and within 5±7 d for sequencing of a known mutation in the F VIII (or F IX) gene (Kadir, 1999;Ljung, 1999). In recent years, there has been significant progress in preimplantation diagnosis using PCR-amplified DNA analysis of blast cell(s) in an embryo up to the eight-cell stage.…”

Section: Prenatal Diagnosismentioning

confidence: 99%

Perinatal management of newborns with haemophilia

2001

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“…Prenatal diagnosis (PND) has been available since the 1970s and is based upon fetal blood sampling during the 18th-20th gestational week and measurement of fetal clotting factors. Since 1985, PND has become possible in the 10-12th week by chorionic villus sampling [1]. The general objective of PND is to provide the opportunity for couples to make an informed choice and to increase their control over their own health and that of their families.…”

Section: Introductionmentioning

confidence: 99%

Comparison of attitudes towards prenatal diagnosis and termination of pregnancy for haemophilia in Iran and Italy

et al. 2004

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Prenatal diagnosis (PND) is an important issue in the comprehensive care of haemophiliacs. As a consequence of technological progress made in the field of PND, the early detection of an affected fetus provides the expectant couple with a chance to terminate pregnancy. This study was undertaken to assess the attitudes of two different haemophilic populations in Iran and Italy towards PND and termination of pregnancy. This study series included 59 Iranians (38 haemophilia A patients and 21 mothers) and 50 Italians (27 haemophilia A patients, 16 mothers and seven fathers). All the 109 participants received a questionnaire including demographic characteristics and evaluating the psychological effects stemming from PND and termination of pregnancy. Approximately 84.7% of the Iranians and 35.4% of the Italians were not familiar with the possibilities afforded by PND for haemophilia (P < 0.001). Termination of pregnancy appeared to be accepted by 58.2% of the Iranian and 16.7% of the Italian participants (P < 0.001). The greater rate of acceptability of abortion in Iranians may be due to differences in the quality of patient care in the two countries.

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Prenatal diagnosis of haemophilia

Cited by 22 publications

References 18 publications

Identification of new dinucleotide‐repeat polymorphisms in factor VIII gene using fluorescent PCR

Identification of new dinucleotide‐repeat polymorphisms in factor VIII gene using fluorescent PCR

Perinatal management of newborns with haemophilia

Comparison of attitudes towards prenatal diagnosis and termination of pregnancy for haemophilia in Iran and Italy

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