Cytogenetic signatures of recurrent pregnancy losses

Yatsenko, Svetlana A.; Quesada-Candela, Cristina; Saller, Devereux N.; Beck, Stacy; Jaffe, Ronald; Kostadinov, Stefan; Yanowitz, Judith L.; Rajkovic, Aleksandar

doi:10.1002/pd.5838

Cited by 12 publications

(12 citation statements)

References 35 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…This study found a close correlation between miscarriage history and IH, which has been neglected in many studies. Although F GDM, gestational diabetes mellitus; LBW, low birth weight; PPROM, preterm premature rupture of membranes; PROM, premature rupture of membrane -Fisher's exact examination was used for analysis Factors reported in gray were excluded by univariable analysis miscarriage occurs because of many causes, such as parental chromosomal rearrangements and uterine defects, damage to the uterus and endometrium caused by miscarriage should not be ignored [22][23][24]. During placental development, some aspects of angiogenesis precede the generation of the vasculature and lead to remodeling of the vascular plexus into a branched vascular tree to ensure increased nutritional and gas exchange.…”

Section: Discussionmentioning

confidence: 99%

“…This study found a close correlation between miscarriage history and IH, which has been neglected in many studies. Although miscarriage occurs because of many causes, such as parental chromosomal rearrangements and uterine defects, damage to the uterus and endometrium caused by miscarriage should not be ignored [ 22 – 24 ]. During placental development, some aspects of angiogenesis precede the generation of the vasculature and lead to remodeling of the vascular plexus into a branched vascular tree to ensure increased nutritional and gas exchange.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Maternal and Perinatal Risk Factors for Infantile Hemangioma: A Matched Case-Control Study with a Large Sample Size

Gong

Qiu

Feng

et al. 2022

Dermatol Ther (Heidelb)

View full text Add to dashboard Cite

Introduction: Infantile hemangioma (IH) is the most common benign tumor in infancy, but information about its pathogenesis is limited. The aim of this study was to determine maternal and perinatal risk factors for IH. Methods: A total of 1033 IH patients were enrolled in the study between 2017 and 2020. IH patients were matched with controls by sex. Trained investigators collected detailed information from the participants. Logistic regression models were used for multivariate analysis. Results: The statistical analysis demonstrated that miscarriage history (odds ratio [OR] = 4.275; 95% confidence interval [CI] [3.195, anemia in pregnancy, preterm premature rupture of membranes (PPROM), placenta previa, threatened miscarriage, premature rupture of membranes (PROM), progesterone use and abnormal amniotic fluid volume were independent risk factors for IH.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Maternal and Perinatal Risk Factors for Infantile Hemangioma: A Matched Case-Control Study with a Large Sample Size

Gong

Qiu

Feng

et al. 2022

Dermatol Ther (Heidelb)

View full text Add to dashboard Cite

show abstract

“…However, data from a cytogenetic survey on 10,730 recurrent pregnancy losses (not included in the above-mentioned list of 61 reports), where non-mosaic T14 was detected in about 6% of full aneuploidies, supported the conclusion regarding the low frequency of mosaic T14. The study did not report any case of mosaicism for T14, although mosaic trisomies of chromosomes 16, 13, 2, and 22 were identified in 0.35%, 0.35%, 0.28%, and 0.21% of aneuploid POC [9]. This observation was intriguing since mosaics are more viable than full trisomy carriers.…”

Section: Population Frequencymentioning

confidence: 87%

Trisomy 14 Mosaicism Including Concomitant Uniparental Disomy: Population Frequency, Cytogenetic Profile, Sex Ratio, Maternal Age, and Obstetric History.

Kovaleva¹,

Cotter²

2022

OBM Genet

View full text Add to dashboard Cite

Mosaicism for trisomy of chromosome 14 (T14) is a very rare chromosomal disease in liveborn patients. Since the 1970s, when the first patients with mosaicism for T14 were reported, a number of studies on the clinical manifestations of this abnormality have been published. No information on epidemiological parameters was known except for the rarity of the disease and its predominance among female carriers. This was the first systematic review of published cases of mosaic T14 that addressed some epidemiological aspects of this abnormality. We conducted a literature review and collected information on 194 cases of regular T14 and only two cases of mosaic T14 among 21,082 tested spontaneous abortuses. Thus, the rates of nonmosaic T14 and mosaic T14 were 0.9% and 0.09‰, respectively. Additionally, we identified 76 carriers of mosaic T14, diagnosed prenatally and postnatally. Among them, there were 50 carriers of mosaicism for regular T14, 21 carriers of mosaicism due to unbalanced homologous translocation/isochromosome, and five carriers of mosaicism for unbalanced non-homologous Robertsonian translocation involving chromosome 14. The most significant findings were as follows. i) The unexplained fourfold predominance of the carriers of homologous rearrangement relative to non-homologous translocations, but the occurrence of exceptionally rare homologous rearrangements compared to non-homologous translocations in human populations; also, the ratio between these two types of rearrangements (21 and 28, respectively) differed from that in the carriers of non-mosaic UPD(14) (p < 0.005). ii) Female patients were predominant in all studied groups, irrespective of the type of the trisomic line and parental origin of the euploid cell line; there were 19 male and 57 female cases reported. iii) The differences in the maternal age between carriers of mosaicism for regular T14 with and without maternal uniparental disomy were statistically significant (average age of 35.4 and 29.8 years, respectively; p < 0.05). This is intriguing because of the common mechanism of the formation of biparental and uniparental disomy. Additionally, a complicated reproductive history was noted in 25% of the families.

show abstract

“…The difference is mainly driven by identification of chromosomal anomalies that cfDNA is unable or fails to detect (such as polyploidy or small copy number variants <7Mb). Polyploidy cases, occurring in 4∼7% of RPL cases, 24 can be diagnosed with cytogenetic culture and single‐nuleotide polymorphism (SNP) array. It can also be identified with SNP‐based cfDNA testing.…”

Section: Discussionmentioning

confidence: 99%

Economic impact of using maternal plasma cell‐free DNA testing to guide further workup in recurrent pregnancy loss

et al. 2021

View full text Add to dashboard Cite

Objective: We have previously demonstrated that maternal-plasma cell-free DNA (cfDNA)-testing can detect chromosomal anomalies in recurrent pregnancy loss (RPL) with 81.8% sensitivity and 90.3% specificity. Here we assess whether this is cost effective in guiding further workup in RPLs. Method:A decision-analytic model was developed to compare the cost of various RPL management pathways: (1) current American Society for Reproductive Medicine (ASRM) RPL workup; (2) microarray or karyotyping analysis of products of conception (POCs) and RPL workup only for euploid cases; and (3) cfDNA testing and RPL workup only for euploid cases. Sample accessibility, failure rates, and sensitivity were specified for each test. Costs of sample collection, genetic tests, and RPL workup were considered. Analysis outcomes included detection rate of chromosomal anomaly and cost per patient tested. Results:In comparison to existing cytogenetic testing on POCs, cfDNA testing pathway allowed for better sample accessibility with a lower cost per patient. In addition, using cfDNA to guide further workup significantly increases the number of causative fetal chromosome anomalies detected, reducing the number of patients undergoing unnecessary workup resulting in an overall cost savings. Conclusion:Our study showed that inclusion of cfDNA testing is a cost-effective approach to guide RPL workup. Key PointsWhat is already known about this topic? � Chromosomal anomalies account for 50%-70% of early pregnancy loss (EPL) and even in recurrent pregnancy loss (RPL) random aneuploidy is the single most common etiology, accounting for >50% of cases.� In a previous study we have shown that maternal-plasma genome-wide cell-free DNA (cfDNA)-based testing can reliably detect chromosomal anomalies in random EPL and RPL with a sensitivity of 81.8% and a specificity of 90.3%.� We therefore suggested cfDNA-based testing serve to guide further management in cases of RPL: if cfDNA in the second and subsequent RPL demonstrates aneuploidy, no furtherThis is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

show abstract

Cytogenetic signatures of recurrent pregnancy losses

Cited by 12 publications

References 35 publications

Maternal and Perinatal Risk Factors for Infantile Hemangioma: A Matched Case-Control Study with a Large Sample Size

Maternal and Perinatal Risk Factors for Infantile Hemangioma: A Matched Case-Control Study with a Large Sample Size

Trisomy 14 Mosaicism Including Concomitant Uniparental Disomy: Population Frequency, Cytogenetic Profile, Sex Ratio, Maternal Age, and Obstetric History.

Economic impact of using maternal plasma cell‐free DNA testing to guide further workup in recurrent pregnancy loss

Contact Info

Product

Resources

About