Genetic markers for inherited thrombophilia related pregnancy loss and implantation failure in Indian population – implications for diagnosis and clinical management

Udumudi, Anuradha; Lava, Chaitra

doi:10.1080/14767058.2022.2038560

Cited by 12 publications

(6 citation statements)

References 43 publications

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“…Differences between populations should also be considered since the genetic culprit of inherited thrombophilia is based on gene mutations and polymorphisms. Apart from mutations analyzed in our population, a recent study from India 9 has shown an even greater spectrum of polymorphisms that should be tested in the setting of recurrent pregnancy loss, and similar up-to-date recommendations based on different gene testing studies from Libia 10 and Japan 11 . The prevalence of different hereditary thrombophilia types and especially the differences between the prevalence of homozygous and heterozygous cases might be taken into consideration by decision-making authorities or guidelines in different systems.…”

Section: Point Of Viewmentioning

confidence: 64%

A point of view on hereditary thrombophilia and low-molecular-weight heparin incorporating the management in pregnancy and involving thyroidology

Dugalić,

Todorović,

Macura

et al. 2023

Rev. Assoc. Med. Bras.

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Section: Point Of Viewmentioning

confidence: 64%

A point of view on hereditary thrombophilia and low-molecular-weight heparin incorporating the management in pregnancy and involving thyroidology

Dugalić,

Todorović,

Macura

et al. 2023

Rev. Assoc. Med. Bras.

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“…Maternal thrombophilia is associated with recurrent fetal loss and implantation failure. 41 Pregnant mothers with heritable thrombophilia need appropriate anticoagulation and/or replacement therapy during the pregnancy course. 13,42 The majority of neonatal thrombosis cases develop in the first 3 days of life, with or without thrombophilia.…”

Section: Discussionmentioning

confidence: 99%

“…In fact, in three of the five families with a parental thrombotic history, mother–child pairs developed thrombosis concurrently during the perinatal period. Maternal thrombophilia is associated with recurrent fetal loss and implantation failure 41 . Pregnant mothers with heritable thrombophilia need appropriate anticoagulation and/or replacement therapy during the pregnancy course 13,42 .…”

Section: Discussionmentioning

confidence: 99%

The clinical and genetic landscape of early‐onset thrombophilia in Japan

Egami,

Ishimura,

Ochiai

et al. 2023

Pediatric Blood & Cancer

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ObjectivesTo determine the optimal management for early‐onset thrombophilia (EOT), the genetic and clinical features of protein C (PC)‐, protein S (PS)‐, or antithrombin (AT)‐deficient patients of ≤20 years of age were studied in Japan.Methods/resultsClinical and genetic information of all genetically diagnosed cases was collected through the prospective, retrospective study, and literature review. One‐hundred‐one patients had PC (n = 55), PS (n = 29), or AT deficiency (n = 18). One overlapping case had PC‐ and PS‐monoallelic variant. Fifty‐five PC‐deficient patients (54%) had 26 monoallelic or 29 biallelic variant(s), and 29 (29%) PS‐deficient patients had 20 monoallelic or nine biallelic variant(s). None of the patients had AT‐biallelic variants. The frequent low‐risk allele p.K193del (PC‐Tottori) was found in five patients with monoallelic (19%) but not 29 with biallelic variant(s). The most common low‐risk allele p.K196E (PS‐Tokushima) was found in five with monoallelic (25%) and six with biallelic variant(s) (67%). One exceptional de novo PC variant was found in 32 families with EOT. Only five parents had a history of thromboembolism. Thrombosis concurrently developed in three mother–newborn pairs (two PC deficiency and one AT deficiency). The prospective cohort revealed the outcomes of 35 patients: three deaths with PC deficiency and 20 complication‐free survivors. Neurological complications were more frequently found in patients with PC‐biallelic variants than those with PC‐, PS‐, or AT‐monoallelic variants (73% vs. 24%, p = .019).ConclusionsWe demonstrate the need for elective screening for EOT targeting PC deficiency in Japan. Early prenatal diagnosis of PC deficiency in mother–infant pairs may prevent perinatal thrombosis in them.

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“…Numerous investigations analyzed the role of inherited thrombophilia variants by studying gene polymorphism associated with RPL [ 41 ].…”

Section: Discussionmentioning

confidence: 99%

H1299R Variant in Factor V and Recurrent Pregnancy Loss: A Systematic Review and Meta-Analysis Protocol

Ardizzone

Capra

Mondello

et al. 2022

Genes

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Recurrent pregnancy loss (RPL) is defined as the loss of two or more pregnancies, affecting approximately 1 to 3% of women worldwide. Scientific data highlight a possible correlation between thrombophilic genetic variants and RPL. H1299R variant in the factor V gene would lead to an increased thrombotic risk associated with frequent miscarriages. However, the data are often conflicting, making this an interesting question for further investigations by evaluating genotype-phenotype correlations to improve the clinical management and genetic counseling of couples. A systematic review and meta-analysis will follow the preferred reporting elements for systematic review and meta-analysis protocols (PRISMA-P). The Pubmed (MEDLINE) and Embase (OVID) databases will be explored to identify suitable articles based on inclusion and exclusion criteria. Inclusion criteria are: (a) H1299R genotyping with clear data reported, referred to as Heterozygous (Het) and/or Homozygous (Hom); (b) articles written in English; (c) analyses of only RPL female patients having at least two or more previous pregnancy losses and compared with a control group. This analysis will present selected scientific evidence, addressing the questions concerning the association between the H1299R variant and RPL, hoping to clarify this still unresolved issue. PROSPERO registration number: CRD42022330077.

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Genetic markers for inherited thrombophilia related pregnancy loss and implantation failure in Indian population – implications for diagnosis and clinical management

Cited by 12 publications

References 43 publications

A point of view on hereditary thrombophilia and low-molecular-weight heparin incorporating the management in pregnancy and involving thyroidology

A point of view on hereditary thrombophilia and low-molecular-weight heparin incorporating the management in pregnancy and involving thyroidology

The clinical and genetic landscape of early‐onset thrombophilia in Japan

H1299R Variant in Factor V and Recurrent Pregnancy Loss: A Systematic Review and Meta-Analysis Protocol

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