Balanced reciprocal translocation at amniocentesis: cytogenetic detection and implications for genetic counseling

Zhang, H G; Zhang, X Y; Tian, T; Xu, Shuqin; Liu, R Z

doi:10.4238/gmr.15038556

Cited by 5 publications

(8 citation statements)

References 27 publications

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“…Reciprocal translocation is a type of chromosome rearrangement that is involved in the exchange of chromosome segments between two chromosomes that do not belong to the same pair of chromosomes [14].…”

Section: Introductionmentioning

confidence: 99%

The application of PGT-A for carriers of balanced structural chromosomal rearrangements

Fodina¹,

Dudorova

Alksere

et al. 2019

Gynecological Endocrinology

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The aim of this study was to analyze differences in chromosomal aberrations and euploidy in embryos of each translocation type and gender of carrier in the case series of 10 couples with balanced translocations who underwent IVF with embryos trophectoderm (TE) biopsy and PGT-A to detect chromosomal aberrations. This is a Case Series (Retrospective study). In each case, controlled ovarian hyperstimulation, oocyte insemination with intracytoplasmic sperm injection (ICSI) and cultivation gave multiple blastocysts, that underwent trophectoderm (TE) biopsy with PGT-A analysis using aCGH and NGS. Number of total unbalanced translocations compared to the number of sporadic aneuploid embryos was 39.6% to 39.6% (50% to 50% of all 37 aneuploid embryos). The highest euploidy rate was in male carrier group-26.7% and the lowest in the Robertsonian translocation carrier group-18.2%. Sporadic aneuploidy-68.2% was highest in Robertsonian translocation carrier group and lowest in female group-11.1%. Chromosomal aberrations related to translocation were highest in female carrier group-77.8% and lowest in Robertsonian translocation carrier group-13.6%. Our study showed that expectancy of total embryo aneuploidy rates will be higher in carriers, than in people with normal karyotype. The prevalence of chromosomal aberrations related to translocation was 4.5 times higher in Reciprocal carrier group than in Robertsonian translocation carrier group. Among maternal and paternal carrier groups, the embryos from female carriers had the lowest euploidy rate, unbalanced translocation rate 4.7 times higher than in the male carrier group and higher total aneuploidy rates.

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Section: Introductionmentioning

confidence: 99%

The application of PGT-A for carriers of balanced structural chromosomal rearrangements

Fodina¹,

Dudorova

Alksere

et al. 2019

Gynecological Endocrinology

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“…[52] In our study, we identifi ed three breakpoints of de novo BCR not reported previously by these authors. [51,52] These three breakpoints (3q13.1, 3q13.2, and 9p12) were not reported in the large-scale studies by Warburton and Giardino, [5,7] in studies in Asia, [9][10][11] or in other studies with smaller sample sizes conducted in Europe, North America and Australia. [12,[30][31][32][33][34][35][36][37][38][39][40][41][42][43][44][45][46] Rosenberg studied 1056 individuals from 52 populations and found that most genetic variation was within populations; only 3%-5% of genetic variation was due to major group differences.…”

Section: Discussionmentioning

confidence: 85%

“…[45,46] We found many reported breakpoints in other antenatally diagnosed de novo BCR studies, but we also found eight breakpoints that previous studies did not identify. [5,7,[9][10][11][12][30][31][32][33][34][35][36][37][38][39][40][41][42][43][44] All those studies primarily included Caucasian and Asian populations, and the majority, as in this study, used cytogenetic banding methods to analyze breakpoints.…”

Section: Discussionmentioning

confidence: 99%

“…[7] Other studies have been conducted on prevalence of de novo BCRs in antenatal diagnosis in Asia and Australia, but the number of cases studied was smaller. [8][9][10][11][12] In a study of individuals from 52 populations in Africa, Europe, the Americas, the Middle East, Asia, and Oceania, Rosenberg found that only 3%-5% of genetic variation was among populations, the majority of variation being within populations. [13] In Latin America and the Caribbean, little has been published on de novo BCRs and their effects on neonatal phenotype by breakpoint involved.…”

Section: Original Researchmentioning

confidence: 99%

“…These were: 2p22, 3p24, 3q13.1, 3q13.2, 5p11, 8q21.1, 9p12, and 12q23. [5,7,[9][10][11][12][28][29][30][31][32][33][34][35][36][37][38][39][40][41][42][43][44] (Figure 1).…”

Section: Distribution Of De Novo Bcr Frequencyunclassified

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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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Comparison of the combined use of CNV-seq and karyotyping or QF-PCR in prenatal diagnosis: a retrospective study

Zhang

Chen

et al. 2023

Sci Rep

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To elevate the accuracy of diagnostic results, CNV-seq is usually performed simultaneously with karyotyping or QF-PCR. Although several studies have investigated the performance of the combined use of CNV-seq with karyotyping or QF-PCR, there have been no reports focusing on the comparison of these 2 diagnostic strategies. In our study, 2507 pregnant women were included to investigate these 2 strategies. The detection rates of foetal genetic abnormalities and turnaround time were compared between these 2 groups. Moreover, the detection rates of foetal genetic abnormalities in different indications were analyzed. Our results unveiled that the detection rates of numerical chromosomal abnormalities were nearly the same in these 2 groups. In addition to numerical chromosomal abnormalities, 39 balanced karyotypic changes and chromosome polymorphisms were detected via the combined use of karyotyping and CNV-seq. Further investigation revealed that the vast majority of these karyotypic changes were inherited from parents. Compared with the karyotyping group, the combination of QF-PCR and CNV-seq reduced the reporting time from 31.593 ± 4.944 days to 11.460 ± 4.894 days. Meanwhile, NIPT, maternal serum screening and ultrasound scan significantly improved the detection of foetal genetic abnormalities. In conclusion, our results revealed that parental karyotyping is a useful supplementary method for CNV-seq and systematic prenatal examinations improved the detection of foetal genetic defects.

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Balanced reciprocal translocation at amniocentesis: cytogenetic detection and implications for genetic counseling

Cited by 5 publications

References 27 publications

The application of PGT-A for carriers of balanced structural chromosomal rearrangements

The application of PGT-A for carriers of balanced structural chromosomal rearrangements

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

Comparison of the combined use of CNV-seq and karyotyping or QF-PCR in prenatal diagnosis: a retrospective study

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