Recurrent pregnancy loss evaluation combined with 24-chromosome microarray of miscarriage tissue provides a probable or definite cause of pregnancy loss in over 90% of patients

Popescu, Filoteia; Jaslow, Carolyn R.; Kutteh, William H.

doi:10.1093/humrep/dey021

Cited by 122 publications

(92 citation statements)

References 41 publications

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“…Around 40% of miscarriages in RM patients are chromosomally abnormal, highlighting the importance of embryonic aneuploidy in this population. Hence, most cases that are unexplained from a parental perspective can in fact be explained by embryonic chromosomal abnormalities . Collectively, combined parental and embryonic factors provide an explanation in >90% of RM patients .…”

Section: Female Age and Embryonic Aneuploidymentioning

confidence: 99%

“…Hence, most cases that are unexplained from a parental perspective can in fact be explained by embryonic chromosomal abnormalities . Collectively, combined parental and embryonic factors provide an explanation in >90% of RM patients . However, it should be noted that embryonic aneuploidy does not negate the possibility of co‐existing pathology in the couple, which occurs in around a quarter of cases …”

Section: Female Age and Embryonic Aneuploidymentioning

confidence: 99%

“…Collectively, combined parental and embryonic factors provide an explanation in >90% of RM patients . However, it should be noted that embryonic aneuploidy does not negate the possibility of co‐existing pathology in the couple, which occurs in around a quarter of cases …”

Section: Female Age and Embryonic Aneuploidymentioning

confidence: 99%

“…Karyotyping of subsequent miscarriages using whole genome approaches is therefore informative. Significantly, the likelihood of there being a parental cause is heavily influenced by whether embryonic aneuploidy is present – 85% of patients with euploid miscarriage tissue were found to have an abnormality following RM workup in one study …”

Section: Female Age and Embryonic Aneuploidymentioning

confidence: 99%

“…Structural chromosomal abnormalities, most commonly (~85%) balanced translocations (reciprocal translocations (~60%) and Robertsonian translocations (~40%)) are found in 2–5% of RM couples (Table ) compared with 0.7% of the general population . Parental karyotyping is recommended by the ASRM and the DGGG/OEGGG/SGGG .…”

Section: Parental Structural Chromosomal Abnormalitiesmentioning

confidence: 99%

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Modern management of recurrent miscarriage

Homer

2018

Aust NZ J Obst Gynaeco

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Recurrent miscarriage (RM), also known as recurrent pregnancy loss, is a distressing condition affecting around 1% of couples trying to conceive It can be very frustrating for both clinicians and patients as, despite intensive workup, no clear underlying pathology is forthcoming in at least 50% of couples. This leads to despair for patients and leaves clinicians at a loss for how to help. Desperation in both camps can promote the uptake of investigations and interventions of unproven benefit. The pathophysiology underpinning RM is incredibly diverse, involving areas such as haematology, endocrinology, immunology and genetics. During the seven to eight years since the UK Royal College of Obstetricians andGynaecologists published guidelines on this topic in 2011, new evidence and guidance from expert authorities have emerged. Here, these important advances in this challenging field of clinical practice will be reviewed. K E Y W O R D Santiphopholipid syndrome, chromosomal translocation, progesterone, recurrent miscarriage, uterine septum

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Section: Female Age and Embryonic Aneuploidymentioning

confidence: 99%

Section: Female Age and Embryonic Aneuploidymentioning

confidence: 99%

Section: Female Age and Embryonic Aneuploidymentioning

confidence: 99%

Section: Female Age and Embryonic Aneuploidymentioning

confidence: 99%

Section: Parental Structural Chromosomal Abnormalitiesmentioning

confidence: 99%

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Modern management of recurrent miscarriage

Homer

2018

Aust NZ J Obst Gynaeco

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Origins of Human Aneuploidy

Delhanty¹

2018

Encyclopedia of Life Sciences

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At birth, at least 1% of humans have a clinically significant chromosomal abnormality. However, this represents a small fraction of those originally conceived as by the time of birth, natural selection has eliminated the vast majority of abnormal embryos and foetuses. There are three stages in development when aneuploidy may arise: during gamete formation, at fertilisation or during the early stages of embryo development. Gamete formation differs significantly between males and females, affecting the incidence of aneuploid gametes, which is fourfold higher in females than in males. Molecular cytogenetic techniques have revealed the extent of full and mosaic aneuploidy in embryos created by in vitro fertilisation (IVF), explaining the high level of arrested development affecting these embryos. Maternal age is the most significant factor affecting the incidence of aneuploidy, but genetic anomalies in the parents are also important. Key Concepts Chromosomally abnormal conceptions are very high in humans, but the effects are lethal in almost all cases. Aneuploidy may arise at three developmental stages: during gamete formation, at fertilisation or during embryogenesis. Gamete formation (oogenesis or spermatogenesis) differs considerably between the sexes as males produce sperm throughout adult life, whereas females are born with a finite set of oogonia. These differences are reflected in the fourfold higher aneuploidy rate in females versus males. Maternal age is the most significant factor affecting the incidence of aneuploidy, but genetic variation, particularly chromosomal rearrangement, in a parent is also an important factor.

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Double vitrification–warming cycles, coupled with blastocyst biopsy, impair live birth but do not affect neonatal outcomes

Jia

et al. 2022

Intl J Gynecology & Obste

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Objective To identify whether the transfer of blastocysts that have been vitrified, thawed, biopsied, revitrified, and subsequently rethawed affects clinical outcome and neonatal outcome. Methods A retrospective study was conducted in a single assisted reproduction technology center from September 2016 to March 2021. Women undergoing single frozen euploid blastocysts transfer were stratified into two groups based on number of vitrification‐thawing cycles: single vitrification coupled with single biopsy (group A, n = 177) and double vitrification coupled with single biopsy (group B, n = 30). Pregnancy and perinatal outcomes of the two groups were compared. Results Clinical pregnancy rates were similar between the two groups. Group B was associated with an increased likelihood of live birth when compared with group A by different multivariable analysis models (model 1: odds ratio, 0.42 [95% confidence interval, 0.18–0.97], P = 0.041; model 2: odds ratio, 0.38 [95% confidence interval, 0.16–0.92], P = 0.033). No major obstetrical complication was reported in the two groups and only one malformation live birth was reported in group A. Conclusion The procedure of double vitrification‐warming cycles, coupled with single biopsy, increases pregnancy loss and ultimately diminishes live birth but does not affect perinatal outcome. Future studies with a larger sample size would help to validate the results.

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Recurrent pregnancy loss evaluation combined with 24-chromosome microarray of miscarriage tissue provides a probable or definite cause of pregnancy loss in over 90% of patients

Abstract: Not applicable.

Cited by 122 publications

References 41 publications

Modern management of recurrent miscarriage

Modern management of recurrent miscarriage

Origins of Human Aneuploidy

Double vitrification–warming cycles, coupled with blastocyst biopsy, impair live birth but do not affect neonatal outcomes

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