Prenatal diagnosis in rare bleeding disorders—An unresolved issue?

Tabibian, Shadi; Shams, Mahmood; Naderi, Majid; Dorgalaleh, Akbar

doi:10.1111/ijlh.12789

Cited by 11 publications

(4 citation statements)

References 34 publications

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“…If we know the mutation, prenatal analysis could be planned: in fact, for a disease such as afibrinogenemia, where bleeding after loss of the umbilical cord stump is frequent and, in some cases, lethal, the prenatal diagnosis of an affected infant can allow treatment immediately after birth and before the first bleeding manifestation. However, the issue of prenatal diagnosis in rare bleeding disorders is still under debate [82], especially considering that, in most cases, it is performed using invasive procedures (such as withdrawal of chorionic villi) that can have dramatic consequences on the fetus. The first prenatal diagnosis for afibrinogenemia was done for a Palestinian family with two affected daughters by Neerman-Arbez et al in 2003 [83].…”

Section: Genetic Diagnosis and Antenatal Diagnosismentioning

confidence: 99%

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Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management

et al. 2021

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Congenital fibrinogen disorders are rare pathologies of the hemostasis, comprising quantitative (afibrinogenemia, hypofibrinogenemia) and qualitative (dysfibrinogenemia and hypodysfibrinogenemia) disorders. The clinical phenotype is highly heterogeneous, being associated with bleeding, thrombosis, or absence of symptoms. Afibrinogenemia and hypofibrinogenemia are the consequence of mutations in the homozygous, heterozygous, or compound heterozygous state in one of three genes encoding the fibrinogen chains, which can affect the synthesis, assembly, intracellular processing, stability, or secretion of fibrinogen. In addition to standard coagulation tests depending on the formation of fibrin, diagnostics also includes global coagulation assays, which are effective in monitoring the management of replacement therapy. Genetic testing is a key point for confirming the clinical diagnosis. The identification of the precise genetic mutations of congenital fibrinogen disorders is of value to permit early testing of other at risk persons and better understand the correlation between clinical phenotype and genotype. Management of patients with afibrinogenemia is particularly challenging since there are no data from evidence-based medicine studies. Fibrinogen concentrate is used to treat bleeding, whereas for the treatment of thrombotic complications, administered low-molecular-weight heparin is most often. This review deals with updated information about afibrinogenemia and hypofibrinogenemia, contributing to the early diagnosis and effective treatment of these disorders.

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Section: Genetic Diagnosis and Antenatal Diagnosismentioning

confidence: 99%

“…In babies of known/suspected carrier couples, cord blood detection of genetic mutations can be done. Indirect prenatal testing by the use of linkage analyses might be an option in rare inherited bleeding disorders, too [82].…”

Section: Genetic Diagnosis and Antenatal Diagnosismentioning

confidence: 99%

Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management

et al. 2021

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“…UCB, the most common clinical manifestation, is a diagnostic criterion for the disease. Also, ICH, another life-threatening hemorrhage with an incidence of 25–30%, is the major cause of mortality, especially in neonates [26]. It occurs spontaneously or because of trauma.…”

Section: Discussionmentioning

confidence: 99%

Noninvasive prenatal diagnosis of congenital factor XIII deficiency in Iran

Motlagh

Dorgalaleh²,

Tabibian³

et al. 2022

Blood Coagulation &Amp; Fibrinolysis

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Congenital factor (F) XIII deficiency is a rare coagulation factor deficiency that is inherited in an autosomal recessive manner. FXIII deficiency presents various clinical manifestations, such as intracranial hemorrhage (ICH), which is the most common cause of morbidity and mortality. As ICH can occur in the neonatal period, prenatal diagnosis (PND) is an effective way to reduce neonatal ICH and its associated fatal consequences. In this study, we investigated a noninvasive prenatal diagnosis (NIPD) method, cell-free fetal DNA (cffDNA), for PND in FXIII deficiency. This study was conducted on seven pregnant women in the first trimester. After extraction of cffDNA from maternal plasma, PCR-restriction fragment length polymorphism (PCR-RFLP) was performed to find the underlying F13A gene mutations previously identified in the family members. PCR-RFLP was also performed on postnatal DNA samples. Sanger sequencing was performed to confirm the results. Four cases were heterozygous for F13A gene mutations, whereas three were unaffected. PCR-RFLP results for cffDNA and postnatal DNA samples were identical, and Sanger sequencing confirmed the results. cffDNA is a noninvasive and effective method for PND in congenital FXIII deficiency. Blood Coagul Fibrinolysis

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“…UCB, the most prevalent clinical presentation, is a diagnostic criterion for the disease. As well, ICH, another life-threatening hemorrhage with an incidence of 25-30%, is the prime cause of mortality, particularly in newborns (26). It occurs spontaneously or due to trauma.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Congenital Factor XIII Deficiency Using Cell-Free Fetal DNA (cffDNA)

Motlagh¹,

Dorgalaleh²,

Tabibian³

et al. 2020

Preprint

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Background: Congenital factor (F) XIII deficiency is a rare coagulation factor deficiency transmitted in an autosomal recessive manner. FXIII deficiency presents different clinical manifestations including intracranial hemorrhage (ICH), the most common cause of morbidity and mortality. Since ICH may occur in the neonatal period, prenatal diagnosis (PND) is an effective way to reduce neonatal ICH and related consequences. In this study, we investigated a noninvasive prenatal diagnosis (NIPD) method, cell-free fetal DNA (cffDNA) for PND in FXIII deficiency. Method: This study was conducted on 7 pregnant women in their first trimester. After extraction of cffDNA from maternal plasma, polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) was performed to find the underlying F13A gene mutations previously identified in family members. PCR-RFLP also was carried out on post-natal DNA samples. Sanger sequencing was used to confirm the results.Results: PCR-RFLP results for cffDNA and post-natal DNA samples were identical, with Sanger sequencing confirming the results. Four cases were heterozygote for F13A gene mutations, while 3 were unaffected. Conclusion: cffDNA is a noninvasive and effective method for PND in congenital FXIII deficiency.

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Prenatal diagnosis in rare bleeding disorders—An unresolved issue?

Cited by 11 publications

References 34 publications

Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management

Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management

Noninvasive prenatal diagnosis of congenital factor XIII deficiency in Iran

Prenatal Diagnosis of Congenital Factor XIII Deficiency Using Cell-Free Fetal DNA (cffDNA)

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