TY - JOUR
T1 - Antenatal diagnosis of de novo balanced structural chromosomal aberrations in Latin America
AU - Méndez-Rosado, Luis A.
AU - Quiñones-Maza, Olga
AU - Vaglio, Alicia
AU - Quadrelli, Roberto
AU - Sánchez-Peñarate, Diana
AU - Soriano-Torres, Michel
AU - Cerrillo-Hinojosa, Mabel
AU - Escobedo-Aguirre, Fernando
AU - Gutiérrez-Nájar, Alfonso
AU - Venegas-Barbosa, Patricia
AU - Barrios-Martínez, Anduriña
AU - Hechavarría-Estenoz, Dulce
AU - Carbonell-De la Torre, Pedro
AU - Pimentel- Benítez, Hector I.
AU - González-Salé, Orlando
AU - Hernández-Gil, José
AU - De La Torre-Santos, María Elena
AU - Alonso-García, Yamilé
AU - Cedeño-Aparicio, Niurka
AU - Torriani-Mendoza, Patricia
AU - Morales-Rodríguez, Enny
AU - Martín-García, Diana
AU - Cuétara-Lugo, Elizabeth
AU - González-Domínguez, Niurka
AU - Hu, Peter
N1 - Publisher Copyright:
© 2018 MEDICC Medical Education Cooperation with Cuba. All rights reserved.
PY - 2018
Y1 - 2018
N2 - 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.
AB - 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.
KW - Antenatal diagnosis
KW - Antenatal screening
KW - Chromosomal aberrations
KW - Chromosomal breakpoints
KW - Colombia
KW - Costa Rica
KW - Cuba
KW - Latin America
KW - Mexico
KW - Pregnancy
KW - Prenatal diagnosis
KW - Uruguay
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M3 - Article
C2 - 31242169
AN - SCOPUS:85068358597
SN - 1555-7960
VL - 20
SP - 27
EP - 34
JO - MEDICC Review
JF - MEDICC Review
IS - 4
ER -