Avoiding a second amniocentesis to corroborate prenatal diagnosis by using refrigerated samples*

Méndez-Rosado, Luis A.; Cuétara, Elizabeth; Molina-Gamboa, O; Suarez-Mayedo, U.; Huertas-Perez, G; Barrios-Martinez, A; Garcia, M.; Morales, Ever Domínguez

doi:10.1080/14767058.2016.1188380

Cited by 1 publication

(1 citation statement)

References 17 publications

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“…[13] In Latin America and the Caribbean, little has been published on de novo BCRs and their effects on neonatal phenotype by breakpoint involved. [14][15][16][17] Due to lack of information in the Region, genetic counseling for de novo BCRs in antenatal diagnosis is based on data compiled by other authors in populations that are geographically very distant and have some differences in their genome compared to our populations. [13] It is unknown what happens in relation to de novo BCRs in our Latin American populations, which are characterized primarily by a high admixture of Caucasian, African and Amerindian descent, with a lower percentage of Asian infl uence.…”

Section: Original Researchmentioning

confidence: 99%

Antenatal Diagnosis of De Novo Balanced Structural Chromosome Aberrations in Latin America

2018

MEDICC Review

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INTRODUCTIONThe 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 fi ve Latin American countries and determine their effect on carrier individuals. METHODSThis 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 fl uid, 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. RESULTSOf 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 identifi ed, the most common were 5p15.3, 7q11.2, 7q22, and 14q24. We identifi ed 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 identifi ed, 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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Section: Original Researchmentioning

confidence: 99%

Antenatal Diagnosis of De Novo Balanced Structural Chromosome Aberrations in Latin America

2018

MEDICC Review

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Avoiding a second amniocentesis to corroborate prenatal diagnosis by using refrigerated samples*

Abstract: Amniocytes obtained from RAFS are a useful biological material to be assayed by FISH, achieving an accurate prenatal diagnosis and avoiding an additional amniocentesis.

Cited by 1 publication

References 17 publications

Antenatal Diagnosis of De Novo Balanced Structural Chromosome Aberrations in Latin America

Antenatal Diagnosis of De Novo Balanced Structural Chromosome Aberrations in Latin America

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