Consecutive or non-consecutive recurrent miscarriage: is there any difference in carrier status?

Boogaard, E. van den; Kaandorp, Stef P.; Franssen, Maureen; Mol, Ben Willem J.; Leschot, N. J.; Wouters, Carine; Veen, Fulco van der; Korevaar, Johanna C.; Goddijn, Mariëtte

doi:10.1093/humrep/deq089

Cited by 62 publications

(35 citation statements)

References 17 publications

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“…Fifteen percent of pregnancies end in a miscarriage and 1% of women who achieve pregnancy will experience recurrent pregnancy loss (RPL), defined as three or more miscarriages23. When a pregnancy fails at the embryonic preimplantation stage, before it is clinically recognized, it presents as primary infertility.…”

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confidence: 99%

Maternally expressed NLRP2 links the subcortical maternal complex (SCMC) to fertility, embryogenesis and epigenetic reprogramming

Mahadevan

Sathappan

Utama

et al. 2017

Sci Rep

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Mammalian parental genomes contribute differently to early embryonic development. Before activation of the zygotic genome, the maternal genome provides all transcripts and proteins required for the transition from a highly specialized oocyte to a pluripotent embryo. Depletion of these maternally-encoded transcripts frequently results in failure of preimplantation embryonic development, but their functions in this process are incompletely understood. We found that female mice lacking NLRP2 are subfertile because of early embryonic loss and the production of fewer offspring that have a wide array of developmental phenotypes and abnormal DNA methylation at imprinted loci. By demonstrating that NLRP2 is a member of the subcortical maternal complex (SCMC), an essential cytoplasmic complex in oocytes and preimplantation embryos with poorly understood function, we identified imprinted postzygotic DNA methylation maintenance, likely by directing subcellular localization of proteins involved in this process, such as DNMT1, as a new crucial role of the SCMC for mammalian reproduction.

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confidence: 99%

Maternally expressed NLRP2 links the subcortical maternal complex (SCMC) to fertility, embryogenesis and epigenetic reprogramming

Mahadevan

Sathappan

Utama

et al. 2017

Sci Rep

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“…Jaslow et al reported that the prevalence of abnormal results for ''evidence-based'' and ''investigative'' diagnostic tests did not differ among women with two, three, or four or more pregnancy losses (4). Van den Boogaard et al reported that consecutive versus nonconsecutive miscarriages did not impact the frequency of being a carrier of a structural chromosome abnormality in couples with two or more pregnancy losses (5). Therefore, the investigators recommended couples with two or more pregnancy losses interspersed with healthy children be managed in the same way as couples with two or more consecutive miscarriages.…”

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Is chromosome testing of the second miscarriage cost saving? A decision analysis of selective versus universal recurrent pregnancy loss evaluation

Bernardi

Plunkett

Stephenson

2012

Fertility and Sterility

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“…Overall, cytogenetic abnormalities (including fetal aneuploidy or polyploidy) are found in 50% to 70% of spontaneous abortion specimens arising from natural conceptions [20,21]. Indeed, some authors explain spontaneous miscarriages as a 'physiological' phenomenon, which prevents conceptions affected by chromosomal aberrations incompatible with life from progressing to viability [4,11].…”

Section: Genetic Abnormalities Embryonic Chromosomal Abnormalitiesmentioning

confidence: 99%

Recurrent Miscarriage: A Review

Barrenetxea¹

2017

RMGO

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pregnancy events [2]. Clinical miscarriages may be subdivided into early clinical pregnancy losses (before gestational week 12) and late clinical pregnancy losses (gestational weeks 12 to 21). The term miscarriage is preferred rather than abortion both by patients and physicians, although "spontaneous abortion" is still used in scientific literature [3,4].For more than 30 years, controversy has existed on the number of miscarriages required to define RM and when diagnostic testing is warranted [5] EpidemiologyEarly pregnancy loss is perhaps the most common obstetric complication, occurring in over two-thirds of human conceptions. Approximately 15 -20% of all clinically recognized pregnancies will end in a miscarriage [4,9,10]. However, prospective cohort studies using sensitive and specific daily urinary hCG assays in women trying to conceive have demonstrated that only around one-third of conceptions progress to a live birth. Most of the losses occur before the clinical recognition of pregnancy as implantation failures. An estimated 30% of human conceptions are lost prior to implantation and a further 30% following implantation but before the missed menstrual period, that is in the third or fourth week of gestation. These are often termed preclinical losses [11].The risk of sporadic miscarriage between 6 and 12 weeks of gestation in women less than 35 years of age is 9% to 12%. The risk increases with age. In women older than 40 years of age, the sporadic miscarriage rate approaches 50%. Late losses between 12 and 22 weeks occur less frequently and constitute around 4% of pregnancy outcomes [4,9].Compared to sporadic miscarriage the prevalence of RM is considerably lower irrespective of whether biochemical losses are included or not. Approximately 1% of all women trying to conceive have recurrent miscarriage, defined as three previous miscarriages; when recurrent miscarriage is defined as two previous miscarriages, the proportion rises to 3% [12,13]. EtiologyMultiple potential etiologies for RM have been described (Table 1). As a consequence, several recommendations have been published regarding the evaluation and management of RM [3].The potential etiologies of RM can be divided into embryologically driven causes (mainly due to an abnormal embryonic karyotype) and maternally driven causes which affect the endometrium and/or placental development [14,15]. Thus, studies that focus on RM have Barrenetxea G, et al., J Reprod Med Gynecol Obstet 2017 AbstractHuman reproduction is characterized by its inefficiency. The loss of pregnancy at any stage can be a devastating experience and particular sensitivity is required in assessing and counseling couples with Recurrent Miscarriage (RM). Recurrent Miscarriage (RM) represents a clinical challenge for physicians not only because there are multiple possible etiologies, but also because the diagnostic testing is costly and time consuming. Despite several well-known etiologic factors, the cause of RM cannot be determined in almost 50% of cases. Multiple potential etiolo...

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Consecutive or non-consecutive recurrent miscarriage: is there any difference in carrier status?

Abstract: The sequence of preceding pregnancies is not a risk factor for carrier status. Therefore, couples with miscarriages interspersed with healthy child(ren) should be managed the same as couples with consecutive miscarriages regarding chromosome diagnosis.

Cited by 62 publications

References 17 publications

Maternally expressed NLRP2 links the subcortical maternal complex (SCMC) to fertility, embryogenesis and epigenetic reprogramming

Maternally expressed NLRP2 links the subcortical maternal complex (SCMC) to fertility, embryogenesis and epigenetic reprogramming

Is chromosome testing of the second miscarriage cost saving? A decision analysis of selective versus universal recurrent pregnancy loss evaluation

Recurrent Miscarriage: A Review

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