Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations

Flowers, Nicola; Burgess, Trent; Giouzeppos, Olivia; Shi, Grace; Love, Clare J.; Hunt, Clare; Scarff, Katrina Louise; Archibald, Alison D; Pertile, Mark D.

doi:10.1038/s41436-020-0930-2

Cited by 22 publications

(29 citation statements)

References 41 publications

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“…Since there is no increase or decrease in chromosomal fragment information, the carrier of reciprocal translocation has a normal phenotype ( 7 ). However, It is possible that the presence of an unreciprocal translocation in some gametes of translocation carriers may result in failure of the developing embryo to implant or in early pregnancy loss ( 8 ). The theoretical chance of producing normal or reciprocal gametes is 4 of 32 for reciprocal translocations.…”

Section: Introductionmentioning

confidence: 99%

Effects of Gender of Reciprocal Chromosomal Translocation on Blastocyst Formation and Pregnancy Outcome in Preimplantation Genetic Testing

et al. 2021

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ObjectiveTo determine the effect of gender of reciprocal chromosomal translocation on blastocyst formation and pregnancy outcome in preimplantation genetic testing, including different parental ages.MethodsThis was a retrospective cohort study that enrolled 1034 couples undergoing preimplantation genetic testing-structural rearrangement on account of a carrier of reciprocal chromosomal translocation from the Reproductive Medicine Center of the First Affiliated Hospital of Zhengzhou University from January 2015 to December 2019. Group A represented 528 couples in which the man was the carrier of reciprocal translocation and group B represented 506 couples in which the woman was the carrier of reciprocal translocation. All patients were divided into two groups according to their age: female age<35 and female age≥35. Furthermore, the differences in blastocyst condition and pregnancy outcome between male and female carriers in each group were further explored according to their father’s age.ResultsThe blastocyst formation rate of group A (55.3%) is higher than that of group B (50%) and the results were statistically significant (P<0.05). The blastocyst formation rate of group A is higher than that of group B, no matter in young maternal age or in advanced maternal age (P<0.05). The blastocyst formation rate in maternal age<35y and paternal age<30y in group A(57.1%) is higher than that of Group B(50%); Similarly, the blastocyst formation rate in maternal age≥35 and paternal age≥38y(66.7%) is higher than that of Group B(33.3%)(all P<0.05). There was no difference in fertilization rate, aeuploidy rate, clinical pregnancy rate, miscarriage rate and live birth rate between Group A and Group B.ConclusionWhen the carrier of reciprocal translocation is male, the blastocyst formation rate is higher than that of female carrier. While there is no significant difference between the two in terms of fertilization rate, aeuploidy rate, clinical pregnancy rate, miscarriage rate and live birth rate.

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Section: Introductionmentioning

confidence: 99%

Effects of Gender of Reciprocal Chromosomal Translocation on Blastocyst Formation and Pregnancy Outcome in Preimplantation Genetic Testing

et al. 2021

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“…However, detection of large subchromosomal aberrations is feasible (26); indeed, this approach is described widely in the literature and may identify cases that otherwise go unnoticed. In the case of parents who know they are carriers of balanced translocations and ask for a non-invasive screening approach, some promishing data have been published but more research is needed to establish the ability of noninvasive prenatal testing to detect imbalances (56). According to Srebniak et al (26), cffDNA screening could be the second-best choice when one parent carries a balanced chromosome aberration and refuses invasive testing because of di culty achieving a viable pregnancy.…”

Section: Discussionmentioning

confidence: 99%

Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by Cell-Free foetal DNA (cffDNA) testing: A case report

Ali¹,

Mateu‐Brull

Balaguer

et al. 2021

Preprint

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BackgroundSince 2011, screening maternal blood for cell-free foetal DNA (cffDNA) fragments has offered a robust clinical tool to classify pregnancy as low or high-risk for Down, Edwards, and Patau syndromes. With recent advances in molecular biology and improvements in data analysis algorithms, the screening’s scope of analysis continues to expand. Indeed, screening now encompassess additional conditions, including aneuploidies for sex chromosomes, microdeletions and microduplications, rare autosomal trisomies, and, more recently, segmental deletions and duplications called copy number variations (CNVs). Yet, the ability to detect CNVs creates a new challenge for cffDNA analysis in couples in which one member carries a structural rearrangement such as a translocation or inversion.Case presentationWe report a segmental duplication of the long arm of chromosome 3 and a segmental deletion of the short arm of chromosome 5 detected by cffDNA analysis in a 25-year-old pregnant woman. G-band karyotyping in amniotic fluid only detected an abnormality in chromosome 5. Next-generation sequencing in amniocytes confirmed both abnormalities and identified breakpoints in 3q26.32q29 and 5p13.3p15. The foetus died at 21 weeks of gestation due to multiple abnormalities, and later G-band karyotyping in the parents revealed that the father was a carrier of a balanced reciprocal translocation [46,XY,t(3;5)(q26.2;p13)]. Maternal karyotype appeared normal.ConclusionThis case provides evidence that extended cffDNA can detect, in addition to aneuploidies for whole chromosomes, large segmental aneuploidies. In some cases, this may indicate the presence of chromosomal rearrangements in a parent. Such abnormalities are outside the scope of standard cffDNA analysis targeting chromosomes 13, 18, 21, X, and Y, potentially leading to undiagnosed congenital conditions.

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“…However, detection of large subchromosomal aberrations is feasible [ 26 ]; indeed, this approach is described widely in the literature and may identify cases that otherwise go unnoticed. In the case of parents who know they are carriers of balanced translocations and ask for a non-invasive screening approach, some promising data have been published but more research is needed to establish the ability of non-invasive prenatal testing to detect imbalances [ 56 ]. According to Srebniak et al [ 26 ], cffDNA screening could be the second-best choice when one parent carries a balanced chromosome aberration and refuses invasive testing because of difficulty achieving a viable pregnancy.…”

Section: Discussionmentioning

confidence: 99%

Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by cell-free foetal DNA (cffDNA) testing: a case report

Ali¹,

Mateu‐Brull

Balaguer

et al. 2021

Eur J Med Res

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Background Since 2011, screening maternal blood for cell-free foetal DNA (cffDNA) fragments has offered a robust clinical tool to classify pregnancy as low or high-risk for Down, Edwards, and Patau syndromes. With recent advances in molecular biology and improvements in data analysis algorithms, the screening’s scope of analysis continues to expand. Indeed, screening now encompassess additional conditions, including aneuploidies for sex chromosomes, microdeletions and microduplications, rare autosomal trisomies, and, more recently, segmental deletions and duplications called copy number variations (CNVs). Yet, the ability to detect CNVs creates a new challenge for cffDNA analysis in couples in which one member carries a structural rearrangement such as a translocation or inversion. Case presentation We report a segmental duplication of the long arm of chromosome 3 and a segmental deletion of the short arm of chromosome 5 detected by cffDNA analysis in a 25-year-old pregnant woman. The blood sample was sequenced on a NextSeq 550 (Illumina) using the VeriSeq NIPT Solution v1 assay. G-band karyotyping in amniotic fluid only detected an abnormality in chromosome 5. Next-generation sequencing in amniocytes confirmed both abnormalities and identified breakpoints in 3q26.32q29 and 5p13.3p15. The foetus died at 21 weeks of gestation due to multiple abnormalities, and later G-band karyotyping in the parents revealed that the father was a carrier of a balanced reciprocal translocation [46,XY,t(3;5)(q26.2;p13)]. Maternal karyotype appeared normal. Conclusion This case provides evidence that extended cffDNA can detect, in addition to aneuploidies for whole chromosomes, large segmental aneuploidies. In some cases, this may indicate the presence of chromosomal rearrangements in a parent. Such abnormalities are outside the scope of standard cffDNA analysis targeting chromosomes 13, 18, 21, X, and Y, potentially leading to undiagnosed congenital conditions.

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Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations

Cited by 22 publications

References 41 publications

Effects of Gender of Reciprocal Chromosomal Translocation on Blastocyst Formation and Pregnancy Outcome in Preimplantation Genetic Testing

Effects of Gender of Reciprocal Chromosomal Translocation on Blastocyst Formation and Pregnancy Outcome in Preimplantation Genetic Testing

Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by Cell-Free foetal DNA (cffDNA) testing: A case report

Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by cell-free foetal DNA (cffDNA) testing: a case report

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