Antenatal Diagnosis of De Novo Balanced Structural Chromosomal Aberrations in Latin America
ABSTRACT INTRODUCTION The consequences of de novo balanced structural chromosome aberrations diagnosed antenatally are unpredictable, and, as a result, they introduce uncertainty into genetic counseling decisions. OBJECTIVE Describe de novo balanced structural aberrations present at antenatal diagno...
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Published in | MEDICC review Vol. 20; no. 4; pp. 27 - 34 |
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Medical Education Cooperation with Cuba
01.12.2018
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Abstract | ABSTRACT INTRODUCTION The consequences of de novo balanced structural chromosome aberrations diagnosed antenatally are unpredictable, and, as a result, they introduce uncertainty into genetic counseling decisions. OBJECTIVE Describe de novo balanced structural aberrations present at antenatal diagnosis in samples from pregnant women in five Latin American countries and determine their effect on carrier individuals. METHODS This was a retrospective observational study based on analysis of 109,011 antenatal tests conducted from January 1981 to December 2016 in Cuba, Uruguay, Costa Rica, Mexico, and Colombia. Thirteen cytogenetic laboratories provided information that included the cases analyzed during the study period; number of de novo balanced structural aberrations diagnosed antenatally; number of diagnoses with de novo balanced structural aberrations that resulted in termination of pregnancy; detailed descriptions of the karyotypes of de novo balanced structural aberration carriers, and descriptions of the form of diagnosis, including types of samples used (amniotic fluid, chorionic villus or fetal blood). Each laboratory also provided pathology reports and genetic counseling at time of diagnosis. Postnatal followup for pregnancies carried to term continued for at least two years. RESULTS Of the 109,011 antenatal tests studied, 72 (0.07%) showed de novo balanced structural aberrations. These events primarily involved chromosomes 1, 2, 7, 14, 18, and 20. Of the 79 breakpoints identified, the most common were 5p15.3, 7q11.2, 7q22, and 14q24. We identified three breakpoints corresponding to 3.8% (3q13.1, 3q13.2, and 9p12) that were not reported in other studies of de novo balanced structural aberrations diagnosed antenatally in patients from other geographic regions or in studies of chromosomal fragile sites. Two of these breakpoints (3q13.1 and 3q13.2) were associated with high risk of phenotypic abnormalities. Information on antenatal or postnatal followup was available for 62 (86%) of de novo balanced structural aberration carriers; of the 44 carriers with postnatal followup, 10 had phenotypic abnormalities. CONCLUSIONS Three new de novo breakpoints were identified, presumably related to genetic admixture characteristics in Latin America. Since some diseases associated with de novo balanced structural aberrations detected antenatally have a late onset, followup for at least two years is recommended for carriers of these aberrations. The information in this study is useful in genetic counseling for pregnant women in Latin America. |
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AbstractList | ABSTRACT INTRODUCTION The consequences of de novo balanced structural chromosome aberrations diagnosed antenatally are unpredictable, and, as a result, they introduce uncertainty into genetic counseling decisions. OBJECTIVE Describe de novo balanced structural aberrations present at antenatal diagnosis in samples from pregnant women in five Latin American countries and determine their effect on carrier individuals. METHODS This was a retrospective observational study based on analysis of 109,011 antenatal tests conducted from January 1981 to December 2016 in Cuba, Uruguay, Costa Rica, Mexico, and Colombia. Thirteen cytogenetic laboratories provided information that included the cases analyzed during the study period; number of de novo balanced structural aberrations diagnosed antenatally; number of diagnoses with de novo balanced structural aberrations that resulted in termination of pregnancy; detailed descriptions of the karyotypes of de novo balanced structural aberration carriers, and descriptions of the form of diagnosis, including types of samples used (amniotic fluid, chorionic villus or fetal blood). Each laboratory also provided pathology reports and genetic counseling at time of diagnosis. Postnatal followup for pregnancies carried to term continued for at least two years. RESULTS Of the 109,011 antenatal tests studied, 72 (0.07%) showed de novo balanced structural aberrations. These events primarily involved chromosomes 1, 2, 7, 14, 18, and 20. Of the 79 breakpoints identified, the most common were 5p15.3, 7q11.2, 7q22, and 14q24. We identified three breakpoints corresponding to 3.8% (3q13.1, 3q13.2, and 9p12) that were not reported in other studies of de novo balanced structural aberrations diagnosed antenatally in patients from other geographic regions or in studies of chromosomal fragile sites. Two of these breakpoints (3q13.1 and 3q13.2) were associated with high risk of phenotypic abnormalities. Information on antenatal or postnatal followup was available for 62 (86%) of de novo balanced structural aberration carriers; of the 44 carriers with postnatal followup, 10 had phenotypic abnormalities. CONCLUSIONS Three new de novo breakpoints were identified, presumably related to genetic admixture characteristics in Latin America. Since some diseases associated with de novo balanced structural aberrations detected antenatally have a late onset, followup for at least two years is recommended for carriers of these aberrations. The information in this study is useful in genetic counseling for pregnant women in Latin America. |
Author | Pimentel-Benítez, Hector I. Morales-Rodríguez, Enny de la Torre-Santos, María Elena Quadrelli, Roberto Hu, Peter Méndez-Rosado, Luis A. Carbonell-de la Torre, Pedro Alonso-García, Yamilé Soriano-Torres, Michel Escobedo-Aguirre, Fernando Venegas-Barbosa, Patricia Hernández-Gil, José González-Domínguez, Niurka Cerrillo-Hinojosa, Mabel Barrios-Martínez, Anduriña Cuétara-Lugo, Elizabeth Cedeño-Aparicio, Niurka Gutiérrez-Nájar, Alfonso Sánchez-Peñarate, Diana Martín-García, Diana González-Salé, Orlando Torriani-Mendoza, Patricia Vaglio, Alicia Hechavarría-Estenoz, Dulce Quiñones-Maza, Olga |
AuthorAffiliation | Institute for Social Security and Services for State Workers (ISSSTE) University of Texas MD Anderson Cancer Center CPGM Cytogenetic Laboratory, CPGM CNGM Ramón González Coro Maternity Hospital Universidad Nacional de Colombia ISSSTE National Children’s Hospital Comandante Manuel Fajardo Medical Faculty, Medical University Hospital of Montevideo Cytogenetics Laboratory, National Medical Genetics Center (CNGM) Cytogenetics Laboratory, Provincial Medical Genetics Center (CPGM) Cytogenetics Laboratory, CNGM Cytogenetics Laboratory, CPGM |
AuthorAffiliation_xml | – name: University of Texas MD Anderson Cancer Center – name: ISSSTE – name: Ramón González Coro Maternity Hospital – name: Cytogenetic Laboratory, CPGM – name: Cytogenetics Laboratory, CPGM – name: National Children’s Hospital – name: Universidad Nacional de Colombia – name: Cytogenetics Laboratory, National Medical Genetics Center (CNGM) – name: Cytogenetics Laboratory, Provincial Medical Genetics Center (CPGM) – name: CPGM – name: CNGM – name: Institute for Social Security and Services for State Workers (ISSSTE) – name: Hospital of Montevideo – name: Comandante Manuel Fajardo Medical Faculty, Medical University – name: Cytogenetics Laboratory, CNGM |
Author_xml | – sequence: 1 givenname: Luis A. surname: Méndez-Rosado fullname: Méndez-Rosado, Luis A. organization: Cytogenetics Laboratory, National Medical Genetics Center (CNGM) – sequence: 2 givenname: Olga surname: Quiñones-Maza fullname: Quiñones-Maza, Olga organization: CNGM – sequence: 3 givenname: Alicia surname: Vaglio fullname: Vaglio, Alicia organization: Hospital of Montevideo – sequence: 4 givenname: Roberto surname: Quadrelli fullname: Quadrelli, Roberto organization: Hospital of Montevideo – sequence: 5 givenname: Diana surname: Sánchez-Peñarate fullname: Sánchez-Peñarate, Diana organization: Universidad Nacional de Colombia – sequence: 6 givenname: Michel surname: Soriano-Torres fullname: Soriano-Torres, Michel organization: Cytogenetics Laboratory, CNGM – sequence: 7 givenname: Mabel surname: Cerrillo-Hinojosa fullname: Cerrillo-Hinojosa, Mabel organization: Institute for Social Security and Services for State Workers (ISSSTE) – sequence: 8 givenname: Fernando surname: Escobedo-Aguirre fullname: Escobedo-Aguirre, Fernando organization: ISSSTE – sequence: 9 givenname: Alfonso surname: Gutiérrez-Nájar fullname: Gutiérrez-Nájar, Alfonso organization: ISSSTE – sequence: 10 givenname: Patricia surname: Venegas-Barbosa fullname: Venegas-Barbosa, Patricia organization: National Children’s Hospital – sequence: 11 givenname: Anduriña surname: Barrios-Martínez fullname: Barrios-Martínez, Anduriña organization: CNGM – sequence: 12 givenname: Dulce surname: Hechavarría-Estenoz fullname: Hechavarría-Estenoz, Dulce organization: Cytogenetics Laboratory, Provincial Medical Genetics Center (CPGM) – sequence: 13 givenname: Pedro surname: Carbonell-de la Torre fullname: Carbonell-de la Torre, Pedro organization: CPGM – sequence: 14 givenname: Hector I. surname: Pimentel-Benítez fullname: Pimentel-Benítez, Hector I. organization: Cytogenetic Laboratory, CPGM – sequence: 15 givenname: Orlando surname: González-Salé fullname: González-Salé, Orlando organization: CPGM – sequence: 16 givenname: José surname: Hernández-Gil fullname: Hernández-Gil, José organization: Cytogenetics Laboratory, CPGM – sequence: 17 givenname: María Elena surname: de la Torre-Santos fullname: de la Torre-Santos, María Elena organization: Cytogenetics Laboratory, CPGM – sequence: 18 givenname: Yamilé surname: Alonso-García fullname: Alonso-García, Yamilé organization: CPGM – sequence: 19 givenname: Niurka surname: Cedeño-Aparicio fullname: Cedeño-Aparicio, Niurka organization: CPGM – sequence: 20 givenname: Patricia surname: Torriani-Mendoza fullname: Torriani-Mendoza, Patricia organization: CNGM – sequence: 21 givenname: Enny surname: Morales-Rodríguez fullname: Morales-Rodríguez, Enny organization: Cytogenetics Laboratory, CNGM – sequence: 22 givenname: Diana surname: Martín-García fullname: Martín-García, Diana organization: CPGM – sequence: 23 givenname: Elizabeth surname: Cuétara-Lugo fullname: Cuétara-Lugo, Elizabeth organization: Comandante Manuel Fajardo Medical Faculty, Medical University – sequence: 24 givenname: Niurka surname: González-Domínguez fullname: González-Domínguez, Niurka organization: Ramón González Coro Maternity Hospital – sequence: 25 givenname: Peter surname: Hu fullname: Hu, Peter organization: University of Texas MD Anderson Cancer Center |
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Keywords | Colombia Cuba antenatal screening Uruguay Antenatal diagnosis pregnancy chromosomal aberrations Mexico chromosomal breakpoints prenatal diagnosis Costa Rica Latin America |
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Snippet | ABSTRACT INTRODUCTION The consequences of de novo balanced structural chromosome aberrations diagnosed antenatally are unpredictable, and, as a result, they... |
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Title | Antenatal Diagnosis of De Novo Balanced Structural Chromosomal Aberrations in Latin America |
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