Cytogenetic analysis of early nonviable pregnancies after assisted reproduction treatment

Martínez, M. Carmen; Méndez, C.; Ferro, Jaime; Nicolás, M.; Serra, Vicente; Landeras, J.

doi:10.1016/j.fertnstert.2009.07.989

Cited by 78 publications

(59 citation statements)

References 34 publications

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“…Among the 2172 cases, 44.9 % were associated with chromosomal anomalies, which is similar to the rates reported in previous studies [4,16,28]. The mean MA of the women with embryos that had abnormal karyotypes was significantly higher than that of the women with embryos that had normal karyotypes (32.5 ± 4.6 vs. 31.5 ± 4.6 years, p < 0.01), supporting the suggestion that MA is a potential risk factor for fetal chromosomal abnormalities [4,7].…”

Section: Discussionsupporting

confidence: 88%

Correlation analysis between ultrasound findings and abnormal karyotypes in the embryos from early pregnancy loss after in vitro fertilization-embryo transfer

Ouyang

et al. 2016

J Assist Reprod Genet

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Purpose The purpose of the study is to evaluate the correlation between ultrasound findings and abnormal karyotypes in early pregnancy losses (EPLs) after in vitro fertilizationembryo transfer (IVF-ET). Methods This retrospective analysis assessed 2172 cases of EPL after IVF-ET occurring between January 2008 and December 2013. The cases were examined via transvaginal ultrasonography (TVS). Embryonic tissue karyotyping following miscarriage was performed using a comparative genomic hybridization (CGH) analysis with fluorescence in situ hybridization (FISH). The correlations between the ultrasound findings and the karyotypes were evaluated. Results Six categories of ultrasound findings were observed: normal ultrasound, empty sac, yolk sac only, small gestational sac, small embryonic pole, and early symmetrical arrested growth. The overall rate of abnormal karyotypes was 44.9 % (976/2172), and the rate of abnormal karyotypes associated with a normal ultrasound, empty sac, yolk sac only, small gestational sac, small embryonic pole, and early symmetrical arrested growth was 49.5 % (218/440), 28.1 % (138/491), 43.4 % (197/454), 50.0 % (43/86), 49.8 % (155/311), and 57.7 % (225/390), respectively. Compared with the other groups, the prevalence of chromosomal abnormalities was significantly higher in the early symmetrical arrested growth group but was markedly lower in the empty sac group in all cases and when cases of 46,XX were excluded (p < 0.05). Trisomy 16 was the most common chromosomal abnormality in the yolk sac only, small embryonic pole and early symmetrical arrested growth groups. In the empty sac, small gestational sac and normal ultrasound groups, monosomy X was the most frequent abnormality. Conclusions Chromosomal anomalies may be associated with specific types of ultrasound findings in EPLs after IVF-ET.

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Section: Discussionsupporting

confidence: 88%

Correlation analysis between ultrasound findings and abnormal karyotypes in the embryos from early pregnancy loss after in vitro fertilization-embryo transfer

Ouyang

et al. 2016

J Assist Reprod Genet

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“…The miscarriage rate were higher than presented in previous studies in the case of day 3 FET cycles by Liu et al (12.6 vs 12.1 %) or Rama Raju et al (7.71 vs 9.24 %) [21,24], but it did not differ from the results of a study on the miscarriage rate after fresh embryo transfers (17.4-22.2 %) in PCO and tubal infertility [25]. The most common reason for early pregnancy miscarriages is the chromosomal abnormalities irrespective the mode of fertilization (spontaneous or ART) [26][27][28]. Slow freezing and thawing has been detected to induce numerical chromosomal changes in human embryos, which could be explained by increased ice crystal formation [28].…”

Section: Discussionmentioning

confidence: 83%

“…The most common reason for early pregnancy miscarriages is the chromosomal abnormalities irrespective the mode of fertilization (spontaneous or ART) [26][27][28]. Slow freezing and thawing has been detected to induce numerical chromosomal changes in human embryos, which could be explained by increased ice crystal formation [28]. In frozen-thawed blastocyst transfers, no difference has been detected in the miscarriage rates between the two cryopreservation methods [14].…”

Section: Discussionmentioning

confidence: 99%

The freezing method of cleavage stage embryos has no impact on the weight of the newborns

Kaartinen

Kananen²,

Huhtala

et al. 2016

J Assist Reprod Genet

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Purpose The aim of this study was to study the effect of the embryo freezing method on the birth weight of newborns from frozen embryo transfer (FET) cycles, and the pregnancy results of cleavage stage embryos cryopreserved by slow freezing or vitrification. Methods This is a retrospective cohort study undertaken in a University Hospital IVF unit using concurrently both the slow-freezing and the vitrification techniques. All frozenthawed and vitrified-warmed day 2 and day 3 embryo transfers during the time period from 1 April 2009 to 31 November 2013 were included in the study. Results There was no statistically significant weight difference between newborns from vitrified or slow-frozen embryos (3588 vs 3670 g). A higher post-thaw viability rate was achieved after cryopreservation by the vitrification technique compared to the slow-freezing protocol (83.4 vs 61.4 %). The miscarriage rate was lower in the vitrification group (15.7 vs 29.0 %). The live birth rates were similar (19.5 vs 19.1 %) in the slow-freezing and vitrification groups, respectively. Among vitrified embryos, 7.4 embryos needed to be thawed to produce one delivery; in the slow-freezing group, that number was 11.9. Conclusions The freezing method has no impact on the weight of the newborn.With lower post-thaw survival rates and higher miscarriage rates, the slow-freezing cryopreservation protocol is inferior to the vitrification technique.

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“…While several studies found a high degree of abnormalities in pregnancies conceived through infertility [Hansen et al, 2002;Vanneste et al, 2009;Fortunato and Tosti, 2011], including the risk of imprinting disorders [Lazaraviciute et al, 2014], others were unable to find an association between assisted reproduction technologies and chromosomal abnormalities [Shevell et al, 2005;Martinez et al, 2010;Conway et al, 2011]. The genetic alterations in children conceived after assisted reproduction can be attributed to epigenetic errors from manipulation of the embryo culture that follows IVF [Cetin et al, 2003], to the effects of controlled ovarian hyperstimulation and ovulation induction, in vitro sperm preparation, or an inherent defect in the infertile couple possibly leading to both the infertility and the birth defect [Olson et al, 2005].…”

Section: Discussionmentioning

confidence: 99%

22q11.2 Deletion Syndrome due to a Translocation t(6;22) in a Patient Conceived via in vitro Fertilization

et al. 2015

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We report on a patient conceived via in vitro fertilization (IVF) with a 22q11.2 deletion due to an unusual unbalanced translocation involving chromosomes 6 and 22 in a karyotype with 45 chromosomes. Cytogenomic studies showed that the patient has a 3.3-Mb deletion of chromosome 22q and a 0.4-Mb deletion of chromosome 6p, which resulted in haploinsufficiency of the genes responsible for the 22q11.2 deletion syndrome and also of the <i>IRF4</i> gene, a member of the interferon regulatory factor family of transcription factors, which is expressed in the immune system cells. The rearrangement could be due to the manipulation of the embryo or as a sporadic event unrelated to IVF. Translocation involving chromosome 22 in a karyotype with 45 chromosomes is a rare event, with no previous reports involving chromosomes 6p and 22q.

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Cytogenetic analysis of early nonviable pregnancies after assisted reproduction treatment

Cited by 78 publications

References 34 publications

Correlation analysis between ultrasound findings and abnormal karyotypes in the embryos from early pregnancy loss after in vitro fertilization-embryo transfer

Correlation analysis between ultrasound findings and abnormal karyotypes in the embryos from early pregnancy loss after in vitro fertilization-embryo transfer

The freezing method of cleavage stage embryos has no impact on the weight of the newborns

22q11.2 Deletion Syndrome due to a Translocation t(6;22) in a Patient Conceived via in vitro Fertilization

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