Genotyping approach for non-invasive fetal RHD detection in an admixed population

Autores
Trucco Boggione, Carolina; Luján Brajovich, Melina Eliana; Mattaloni, Stella Maris; Di Monaco, Rene A.; García Borrás, Silvia Estela; Biondi, Claudia Silvia; Cotorruelo, Carlos Miguel
Año de publicación
2017
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Background. Non-invasive foetal RHD genotyping can predict haemolytic disease of the foetus and the newborn in pregnancies with anti-D alloantibodies and also avoid antenatal anti-D prophylaxis in pregnant women carrying an RHD negative foetus. Considering that the Argentine genetic background is the result of generations of intermixing between several ethnic groups, we evaluated the diagnostic performance of a non-invasive foetal RHD determination strategy to guide targeted antenatal RhD immunoprophylaxis. This algorithm is based on the analysis of four regions of the RHD gene in cell-free foetal DNA in maternal plasma and maternal and paternal RHD genotyping. Materials and methods. DNA from 298 serologically D negative pregnant women between 19-28 weeks gestation were RHD genotyped. Foetal RHD status was determined by real-time PCR in 296 maternal plasma samples. In particular cases, RHDΦ and RHD-CE-Ds alleles were investigated in paternal DNA. Umbilical cord blood was collected at birth and serological and molecular studies were performed. Results. Of the 298 maternal samples, 288 were D-/RHD- and 10 D-/RHD+ (2 RHD∗DAR; 5 RHD-CE-Ds; 3 RHDΦ). Plasma from RHD∗DAR carriers was not analysed. Real-time PCR showed 210 RHD+ and 78 RHD-foetuses and 8 inconclusive results. In this latter group, paternal molecular studies were useful to report a RHD negative status in 5 foetuses while only 3 remained inconclusive. All the results, except one false positive due to a silent allele (RHD[581insG]), agreed with the neonatal typing performed in cord blood. Discussion. The protocol used for non-invasive prenatal RHD genotyping proved to be suitable to determine foetal RHD status in our admixed population. The knowledge of the genetic background of the population under study and maternal and paternal molecular analysis can reduce the number of inconclusive results when investigating foetal RHD status.
Fil: Trucco Boggione, Carolina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario. Instituto de Inmunología Clinica y Experimental de Rosario. Universidad Nacional de Rosario. Facultad de Ciencias Médicas. Instituto de Inmunología Clinica y Experimental de Rosario; Argentina. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina
Fil: Luján Brajovich, Melina Eliana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario. Instituto de Inmunología Clinica y Experimental de Rosario. Universidad Nacional de Rosario. Facultad de Ciencias Médicas. Instituto de Inmunología Clinica y Experimental de Rosario; Argentina. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina
Fil: Mattaloni, Stella Maris. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario. Instituto de Inmunología Clinica y Experimental de Rosario. Universidad Nacional de Rosario. Facultad de Ciencias Médicas. Instituto de Inmunología Clinica y Experimental de Rosario; Argentina. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina
Fil: Di Monaco, Rene A.. Universidad Nacional de Rosario; Argentina
Fil: García Borrás, Silvia Estela. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina
Fil: Biondi, Claudia Silvia. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina
Fil: Cotorruelo, Carlos Miguel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario. Instituto de Inmunología Clinica y Experimental de Rosario. Universidad Nacional de Rosario. Facultad de Ciencias Médicas. Instituto de Inmunología Clinica y Experimental de Rosario; Argentina. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina
Materia
PRENATAL DIAGNOSTIC
RHD GENOTYPING
IMMUNOPROPHYLAXIS
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/53296
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/53296
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Genotyping approach for non-invasive fetal RHD detection in an admixed populationTrucco Boggione, CarolinaLuján Brajovich, Melina ElianaMattaloni, Stella MarisDi Monaco, Rene A.García Borrás, Silvia EstelaBiondi, Claudia SilviaCotorruelo, Carlos MiguelPRENATAL DIAGNOSTICRHD GENOTYPINGIMMUNOPROPHYLAXIShttps://purl.org/becyt/ford/3.3https://purl.org/becyt/ford/3Background. Non-invasive foetal RHD genotyping can predict haemolytic disease of the foetus and the newborn in pregnancies with anti-D alloantibodies and also avoid antenatal anti-D prophylaxis in pregnant women carrying an RHD negative foetus. Considering that the Argentine genetic background is the result of generations of intermixing between several ethnic groups, we evaluated the diagnostic performance of a non-invasive foetal RHD determination strategy to guide targeted antenatal RhD immunoprophylaxis. This algorithm is based on the analysis of four regions of the RHD gene in cell-free foetal DNA in maternal plasma and maternal and paternal RHD genotyping. Materials and methods. DNA from 298 serologically D negative pregnant women between 19-28 weeks gestation were RHD genotyped. Foetal RHD status was determined by real-time PCR in 296 maternal plasma samples. In particular cases, RHDΦ and RHD-CE-Ds alleles were investigated in paternal DNA. Umbilical cord blood was collected at birth and serological and molecular studies were performed. Results. Of the 298 maternal samples, 288 were D-/RHD- and 10 D-/RHD+ (2 RHD∗DAR; 5 RHD-CE-Ds; 3 RHDΦ). Plasma from RHD∗DAR carriers was not analysed. Real-time PCR showed 210 RHD+ and 78 RHD-foetuses and 8 inconclusive results. In this latter group, paternal molecular studies were useful to report a RHD negative status in 5 foetuses while only 3 remained inconclusive. All the results, except one false positive due to a silent allele (RHD[581insG]), agreed with the neonatal typing performed in cord blood. Discussion. The protocol used for non-invasive prenatal RHD genotyping proved to be suitable to determine foetal RHD status in our admixed population. The knowledge of the genetic background of the population under study and maternal and paternal molecular analysis can reduce the number of inconclusive results when investigating foetal RHD status.Fil: Trucco Boggione, Carolina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario. Instituto de Inmunología Clinica y Experimental de Rosario. Universidad Nacional de Rosario. Facultad de Ciencias Médicas. Instituto de Inmunología Clinica y Experimental de Rosario; Argentina. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; ArgentinaFil: Luján Brajovich, Melina Eliana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario. Instituto de Inmunología Clinica y Experimental de Rosario. Universidad Nacional de Rosario. Facultad de Ciencias Médicas. Instituto de Inmunología Clinica y Experimental de Rosario; Argentina. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; ArgentinaFil: Mattaloni, Stella Maris. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario. Instituto de Inmunología Clinica y Experimental de Rosario. Universidad Nacional de Rosario. Facultad de Ciencias Médicas. Instituto de Inmunología Clinica y Experimental de Rosario; Argentina. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; ArgentinaFil: Di Monaco, Rene A.. Universidad Nacional de Rosario; ArgentinaFil: García Borrás, Silvia Estela. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; ArgentinaFil: Biondi, Claudia Silvia. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; ArgentinaFil: Cotorruelo, Carlos Miguel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario. Instituto de Inmunología Clinica y Experimental de Rosario. Universidad Nacional de Rosario. Facultad de Ciencias Médicas. Instituto de Inmunología Clinica y Experimental de Rosario; Argentina. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; ArgentinaSIMTI Servizi Sri2017-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/mswordapplication/pdfhttp://hdl.handle.net/11336/53296Trucco Boggione, Carolina; Luján Brajovich, Melina Eliana; Mattaloni, Stella Maris; Di Monaco, Rene A.; García Borrás, Silvia Estela; et al.; Genotyping approach for non-invasive fetal RHD detection in an admixed population; SIMTI Servizi Sri; Blood Transfusion; 15; 1; 1-2017; 66-731723-2007CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/http://www.bloodtransfusion.it/articolo.aspx?idart=003012&idriv=000118info:eu-repo/semantics/altIdentifier/doi/10.2450/2016.0228-15info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:42:39Zoai:ri.conicet.gov.ar:11336/53296instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 10:42:39.768CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Genotyping approach for non-invasive fetal RHD detection in an admixed population
title Genotyping approach for non-invasive fetal RHD detection in an admixed population
spellingShingle Genotyping approach for non-invasive fetal RHD detection in an admixed population
Trucco Boggione, Carolina
PRENATAL DIAGNOSTIC
RHD GENOTYPING
IMMUNOPROPHYLAXIS
title_short Genotyping approach for non-invasive fetal RHD detection in an admixed population
title_full Genotyping approach for non-invasive fetal RHD detection in an admixed population
title_fullStr Genotyping approach for non-invasive fetal RHD detection in an admixed population
title_full_unstemmed Genotyping approach for non-invasive fetal RHD detection in an admixed population
title_sort Genotyping approach for non-invasive fetal RHD detection in an admixed population
dc.creator.none.fl_str_mv Trucco Boggione, Carolina
Luján Brajovich, Melina Eliana
Mattaloni, Stella Maris
Di Monaco, Rene A.
García Borrás, Silvia Estela
Biondi, Claudia Silvia
Cotorruelo, Carlos Miguel
author Trucco Boggione, Carolina
author_facet Trucco Boggione, Carolina
Luján Brajovich, Melina Eliana
Mattaloni, Stella Maris
Di Monaco, Rene A.
García Borrás, Silvia Estela
Biondi, Claudia Silvia
Cotorruelo, Carlos Miguel
author_role author
author2 Luján Brajovich, Melina Eliana
Mattaloni, Stella Maris
Di Monaco, Rene A.
García Borrás, Silvia Estela
Biondi, Claudia Silvia
Cotorruelo, Carlos Miguel
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv PRENATAL DIAGNOSTIC
RHD GENOTYPING
IMMUNOPROPHYLAXIS
topic PRENATAL DIAGNOSTIC
RHD GENOTYPING
IMMUNOPROPHYLAXIS
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.3
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Background. Non-invasive foetal RHD genotyping can predict haemolytic disease of the foetus and the newborn in pregnancies with anti-D alloantibodies and also avoid antenatal anti-D prophylaxis in pregnant women carrying an RHD negative foetus. Considering that the Argentine genetic background is the result of generations of intermixing between several ethnic groups, we evaluated the diagnostic performance of a non-invasive foetal RHD determination strategy to guide targeted antenatal RhD immunoprophylaxis. This algorithm is based on the analysis of four regions of the RHD gene in cell-free foetal DNA in maternal plasma and maternal and paternal RHD genotyping. Materials and methods. DNA from 298 serologically D negative pregnant women between 19-28 weeks gestation were RHD genotyped. Foetal RHD status was determined by real-time PCR in 296 maternal plasma samples. In particular cases, RHDΦ and RHD-CE-Ds alleles were investigated in paternal DNA. Umbilical cord blood was collected at birth and serological and molecular studies were performed. Results. Of the 298 maternal samples, 288 were D-/RHD- and 10 D-/RHD+ (2 RHD∗DAR; 5 RHD-CE-Ds; 3 RHDΦ). Plasma from RHD∗DAR carriers was not analysed. Real-time PCR showed 210 RHD+ and 78 RHD-foetuses and 8 inconclusive results. In this latter group, paternal molecular studies were useful to report a RHD negative status in 5 foetuses while only 3 remained inconclusive. All the results, except one false positive due to a silent allele (RHD[581insG]), agreed with the neonatal typing performed in cord blood. Discussion. The protocol used for non-invasive prenatal RHD genotyping proved to be suitable to determine foetal RHD status in our admixed population. The knowledge of the genetic background of the population under study and maternal and paternal molecular analysis can reduce the number of inconclusive results when investigating foetal RHD status.
Fil: Trucco Boggione, Carolina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario. Instituto de Inmunología Clinica y Experimental de Rosario. Universidad Nacional de Rosario. Facultad de Ciencias Médicas. Instituto de Inmunología Clinica y Experimental de Rosario; Argentina. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina
Fil: Luján Brajovich, Melina Eliana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario. Instituto de Inmunología Clinica y Experimental de Rosario. Universidad Nacional de Rosario. Facultad de Ciencias Médicas. Instituto de Inmunología Clinica y Experimental de Rosario; Argentina. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina
Fil: Mattaloni, Stella Maris. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario. Instituto de Inmunología Clinica y Experimental de Rosario. Universidad Nacional de Rosario. Facultad de Ciencias Médicas. Instituto de Inmunología Clinica y Experimental de Rosario; Argentina. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina
Fil: Di Monaco, Rene A.. Universidad Nacional de Rosario; Argentina
Fil: García Borrás, Silvia Estela. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina
Fil: Biondi, Claudia Silvia. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina
Fil: Cotorruelo, Carlos Miguel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario. Instituto de Inmunología Clinica y Experimental de Rosario. Universidad Nacional de Rosario. Facultad de Ciencias Médicas. Instituto de Inmunología Clinica y Experimental de Rosario; Argentina. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina
description Background. Non-invasive foetal RHD genotyping can predict haemolytic disease of the foetus and the newborn in pregnancies with anti-D alloantibodies and also avoid antenatal anti-D prophylaxis in pregnant women carrying an RHD negative foetus. Considering that the Argentine genetic background is the result of generations of intermixing between several ethnic groups, we evaluated the diagnostic performance of a non-invasive foetal RHD determination strategy to guide targeted antenatal RhD immunoprophylaxis. This algorithm is based on the analysis of four regions of the RHD gene in cell-free foetal DNA in maternal plasma and maternal and paternal RHD genotyping. Materials and methods. DNA from 298 serologically D negative pregnant women between 19-28 weeks gestation were RHD genotyped. Foetal RHD status was determined by real-time PCR in 296 maternal plasma samples. In particular cases, RHDΦ and RHD-CE-Ds alleles were investigated in paternal DNA. Umbilical cord blood was collected at birth and serological and molecular studies were performed. Results. Of the 298 maternal samples, 288 were D-/RHD- and 10 D-/RHD+ (2 RHD∗DAR; 5 RHD-CE-Ds; 3 RHDΦ). Plasma from RHD∗DAR carriers was not analysed. Real-time PCR showed 210 RHD+ and 78 RHD-foetuses and 8 inconclusive results. In this latter group, paternal molecular studies were useful to report a RHD negative status in 5 foetuses while only 3 remained inconclusive. All the results, except one false positive due to a silent allele (RHD[581insG]), agreed with the neonatal typing performed in cord blood. Discussion. The protocol used for non-invasive prenatal RHD genotyping proved to be suitable to determine foetal RHD status in our admixed population. The knowledge of the genetic background of the population under study and maternal and paternal molecular analysis can reduce the number of inconclusive results when investigating foetal RHD status.
publishDate 2017
dc.date.none.fl_str_mv 2017-01
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/53296
Trucco Boggione, Carolina; Luján Brajovich, Melina Eliana; Mattaloni, Stella Maris; Di Monaco, Rene A.; García Borrás, Silvia Estela; et al.; Genotyping approach for non-invasive fetal RHD detection in an admixed population; SIMTI Servizi Sri; Blood Transfusion; 15; 1; 1-2017; 66-73
1723-2007
CONICET Digital
CONICET
url http://hdl.handle.net/11336/53296
identifier_str_mv Trucco Boggione, Carolina; Luján Brajovich, Melina Eliana; Mattaloni, Stella Maris; Di Monaco, Rene A.; García Borrás, Silvia Estela; et al.; Genotyping approach for non-invasive fetal RHD detection in an admixed population; SIMTI Servizi Sri; Blood Transfusion; 15; 1; 1-2017; 66-73
1723-2007
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/http://www.bloodtransfusion.it/articolo.aspx?idart=003012&idriv=000118
info:eu-repo/semantics/altIdentifier/doi/10.2450/2016.0228-15
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/msword
application/pdf
dc.publisher.none.fl_str_mv SIMTI Servizi Sri
publisher.none.fl_str_mv SIMTI Servizi Sri
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.070432

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