Association between Fetal Cerebral Ventriculomegaly and Platelet Alloimmunisation

Martillotti, Gabriella; Rypens, Françoise; David, Michèle; Catalfamo, N.; Dubé, Johanne; Taillefer, Catherine; Lachance, Christian; Audibert, François

doi:10.1159/000448994

Cited by 4 publications

(4 citation statements)

References 59 publications

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“…Moreover, we were not able to analyze the association of fetal alloimmune thrombocytopenia with VM, as the investigation for platelet antibodies was not performed systematically. However, 11% screenpositive cases for platelet antibodies in a cohort of fetal VM have been reported recently, and no association with prenatal ultrasound findings, such as laterality, symmetry, or progression, was found [33].…”

Section: Discussionmentioning

confidence: 92%

Prognostic Features and Long-Term Outcome in Patients with Isolated Fetal Ventriculomegaly

Winkler¹,

Tölle

Natalucci

et al. 2017

Fetal Diagn Ther

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Objective: In order to provide aid for prenatal counseling in fetal isolated ventriculomegaly (IVM) on ultrasound, we recorded the latest long-term clinical and imaging outcomes of children with a mean age of 7.2 years (range 2.1-14.6). Methods: In 72 fetuses with IVM, diagnosed between 1999 and 2011, the measurement quality of atrial diameter was reviewed in the axial plane. We assessed the association of characteristics of IVM with outcome parameters in the cohort and in subgroups. Prognostic values of significant associations were reported by receiver operating characteristic curve analysis. Results: Cerebral anomalies were diagnosed postnatally in 42% and genetic disorders in 12% of 45 live births. Significant associations of outcome parameters were found between the degree of IVM and genetic disorders (p = 0.017) with an area under the curve (AUC) of 0.866, and between progression of IVM and motor impairment (p = 0.024) with an AUC of 0.789. No significant correlation was found with the other assessed outcome parameters. Furthermore, our subgroup analysis clearly showed that, if cerebral or genetic anomalies are not found postnatally, a favorable outcome may be expected. Discussion: Diameter and progression in IVM are not significantly associated with most outcome parameters. Cerebral anomalies and genetic disorders may contribute to an unfavorable outcome.

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Section: Discussionmentioning

confidence: 92%

Prognostic Features and Long-Term Outcome in Patients with Isolated Fetal Ventriculomegaly

Winkler¹,

Tölle

Natalucci

et al. 2017

Fetal Diagn Ther

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“…The frequency of positive serology for FNAIT in infants with isolated ICH is low . There is no confirmed association between FNAIT and isolated fetal brain anomalies such as fetal ventriculomegaly or fetal brain cysts .…”

Section: Methodsmentioning

confidence: 94%

Investigations for fetal and neonatal alloimmune thrombocytopenia: communication from the SSC of the ISTH

Petermann

Bakchoul

Curtis

et al. 2018

Journal of Thrombosis and Haemostasis

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“…Large cohort studies have reported on very few cases of FNAIT caused by GPIbIX alloantibodies . Apart from the difficulty in detecting them, anti‐GPIbIX alloantibodies are suspected to cause miscarriages, lowering the number of identified FNAIT cases that are dependent on anti‐GPIbIX alloantibodies .…”

Section: Discussionmentioning

confidence: 99%

Cab4b, the first human platelet antigen carried by glycoprotein IX discovered in a context of severe neonatal thrombocytopenia

Jallu

Beranger

Bianchi

et al. 2017

Journal of Thrombosis and Haemostasis

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Cab4b, the first human platelet antigen carried by glycoprotein IX discovered in a context of severe neonatal thrombocytopenia V . J A L L U , T. BERANGER, F. BIANCHI, C. CASALE, C. CHE N E T , N . F E R R E , S . P H I L I P P E , J . Q U E S N E , C . M A R T A G E I X and R . P E T E R M A N N Essentials• Life-threatening maternofetal thrombocytopenias mostly depend on a IIb b 3 antigens.• We performed serological, genomic and in vitro studies of two life-threatening thrombocytopenias.• Identification of a c.368C>T variation leading to Pro123Leu substitution in GPIX.• A rare GPIX variant reported in a genomic database define a new alloantigen.Summary. Background: After three miscarriages, a 39-yearold woman gave birth, with a 1-year interval, to two severely thrombocytopenic neonates (4 910 9 L -1 and 33 910 9 L -1 ) with intracranial hemorrhages. Transfusion of platelet concentrates corrected the thrombocytopenia. The outcome was favorable for the first child, but the second one died 10 days after cesarean delivery (31 weeks of gestation + 6 days). Methods: Serologic studies were performed with mAb-specific immobilization of platelet antigens and flow cytometry techniques. Human platelet alloantigen (HPA) genotyping was performed with the BioArray HPA BeadChip and PCR-sequence-specific primer techniques. Genomic DNA was studied by direct sequencing of PCR products. The mutant glycoprotein (GP) was expressed in transiently transfected HEK293 cells. Results: In MAIPA assay, the maternal serum faintly reacted with GPIbIX from paternal and child 1 platelets, but not with maternal or panel platelets. No maternofetal incompatibility was found in the 22 known HPA systems, tested except for HPA-1b in child 2. A new alloantigen carried by GPIbIX was suspected. Genomic sequencing revealed a paternal GPIX variation (NM_000174.4: c.368C>T). The father and children were heterozygous and incompatible with the mother, who was NM_000174.4: c.368C homozygous. The maternal serum reacted with the GPIX NP_000165.1:p.Leu123 form coexpressed with GPIb in transfected HEK293 cells. The NM_000174.4:c.368T allele (rs202229101) has a minor allele frequency of 0.0002, and was not detected in 120 French subjects (families with fetal and neonatal alloimmune thrombocytopenia [FNAIT]), suggesting that it is rarely implicated in alloimmunization. Conclusion: The NP_000165.1:p.Leu123 allele named Cab4b is the first platelet alloantigen described on GPIX. In the absence of other known maternofetal incompatibility, the child 1 case suggests that anti-Cab4b alloantibodies can induce severe thrombocytopenias.

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Association between Fetal Cerebral Ventriculomegaly and Platelet Alloimmunisation

Cited by 4 publications

References 59 publications

Prognostic Features and Long-Term Outcome in Patients with Isolated Fetal Ventriculomegaly

Prognostic Features and Long-Term Outcome in Patients with Isolated Fetal Ventriculomegaly

Investigations for fetal and neonatal alloimmune thrombocytopenia: communication from the SSC of the ISTH

Cab4b, the first human platelet antigen carried by glycoprotein IX discovered in a context of severe neonatal thrombocytopenia

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