Cost-effectiveness of cytogenetic evaluation of products of conception in the patient with a second pregnancy loss

Foyouzi, Nastaran; Cedars, Marcelle I.; Huddleston, Heather G.

doi:10.1016/j.fertnstert.2012.04.007

Cited by 53 publications

(36 citation statements)

References 23 publications

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“…In the recent years, increasing number of studies perform cytogenetic analysis of the miscarriage tissue starting from the second miscarriage and even propose this approach as a more cost-effective strategy compared to the evidence-based standard RPL evaluation [6,16,21,29]. In this perspective, these studies suggest that the chromosome evaluation of miscarriage tissue should be carried out as a first step, before deciding whether to proceed with the standard RPL or not [9,30,31].…”

Section: Discussionmentioning

confidence: 99%

The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use

et al. 2017

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ObjectiveTo investigate whether miscarried embryo/fetal crown rump length (CRL) measurement may yield a practical application for predicting a conclusive result at the cytogenetic analysis of miscarriage tissue. Our study might help in improving the cytogenetic method, the results of which may be affected by maternal cell contamination (MCC). In particular, we aimed at establishing whether the miscarried embryo/fetal CRL measurement shows accuracy in predicting the possibility of MCC and the scan cut-off value useful to this purpose and, as a result, suggest a multi-step procedure for the genetic ascertainment.MethodsWomen experiencing at least two miscarriages of less than 20 weeks size at the Pregnancy Loss Unit at Fondazione Policlinico A. Gemelli underwent a scan before surgery. The CRL value was recorded. After the dilatation and courettage (D&C) procedure, miscarriage tissue was processed through the proposed multi-step procedure before performing oligo-nucleotide-based and SNP (single nucleotide polymorphisms)-based comparative genomic hybridization (CGH+SNP) microarray analysis.Results63 women and 63 miscarriages met the criteria. By using the Receiving Operator Characteristic (ROC) curves, CRL showed an AUC of 0.816 (95%CI:0.703–0.928,p<0.001). A CRL≥24.5 mm cut-off value showed a higher positive likelihood ratio (5.27) but, conversely, a higher negative likelihood ratio (0.64) in predicting the possibility of MCC. Microarray analysis was successful in the totality of cases in which the embryo/fetal origin of miscarriage tissues was proven.ConclusionsThe 24.5 mm CRL value emerges as the most suitable cut-off enabling the identification of cases in which the embryo-fetal component can be isolated in the absence of MCC and the chromosomal array provide informative results.

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Section: Discussionmentioning

confidence: 99%

The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use

et al. 2017

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“…Finally, an aneuploidy in the POC confirms the diagnosis and no further tests are necessary. Some studies have reported such a strategy to be more cost-effective than the classic evaluation 109,110. However, if a POC karyotype is not available, a full RPL workup is ordered 2,7,108…”

Section: Workupmentioning

confidence: 99%

Recurrent pregnancy loss: current perspectives

Hachem

Crepaux

May‐Panloup

et al. 2017

IJWH

356

209

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Recurrent pregnancy loss is an important reproductive health issue, affecting 2%–5% of couples. Common established causes include uterine anomalies, antiphospholipid syndrome, hormonal and metabolic disorders, and cytogenetic abnormalities. Other etiologies have been proposed but are still considered controversial, such as chronic endometritis, inherited thrombophilias, luteal phase deficiency, and high sperm DNA fragmentation levels. Over the years, evidence-based treatments such as surgical correction of uterine anomalies or aspirin and heparin for antiphospholipid syndrome have improved the outcomes for couples with recurrent pregnancy loss. However, almost half of the cases remain unexplained and are empirically treated using progesterone supplementation, anticoagulation, and/or immunomodulatory treatments. Regardless of the cause, the long-term prognosis of couples with recurrent pregnancy loss is good, and most eventually achieve a healthy live birth. However, multiple pregnancy losses can have a significant psychological toll on affected couples, and many efforts are being made to improve treatments and decrease the time needed to achieve a successful pregnancy. This article reviews the established and controversial etiologies, and the recommended therapeutic strategies, with a special focus on unexplained recurrent pregnancy losses and the empiric treatments used nowadays. It also discusses the current role of preimplantation genetic testing in the management of recurrent pregnancy loss.

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“…1,30,31 By identifying the 50-60% of women whose pregnancy loss is due to a gross chromosomal abnormality, microarray analysis prevents patients from undergoing costly and unnecessary evaluations, whereas a negative result indicates that investigations targeted toward a variety of systemic disorders, including endocrinologic, hematologic, anatomic, or immunologic problems, are warranted. 1,32 Importantly, identification of specific chromosome abnormalities provides valuable information that directs counseling for estimation of risk for recurrent pregnancy loss and evaluation of increased risk of having live-born offspring with congenital anomalies and/or neurocognitive disabilities. In addition, although significant weight is put on demonstrable improvements in patient outcomes and in cost savings, the psychological benefit of identifying the etiology of a fetal loss cannot be understated.…”

Section: Introductionmentioning

confidence: 99%

Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges

Sahoo

Dzidic

Strecker

et al. 2017

Genetics in Medicine

145

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Analysis of POC specimens by karyotyping fails in 20-40% of cases. SNP-based CMA is a robust platform, with successful results obtained in >90% of cases. SNP-based CMA can identify aneuploidy, polyploidy, whole-genome homozygosity, segmental genomic imbalances, and maternal cell contamination, thus maximizing sensitivity and decreasing false-negative results. Understanding the etiology of fetal loss enables clarification of recurrence risk and assists in determining appropriate management for future family planning.Genet Med 19 1, 83-89.

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Cost-effectiveness of cytogenetic evaluation of products of conception in the patient with a second pregnancy loss

Cited by 53 publications

References 23 publications

The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use

The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use

Recurrent pregnancy loss: current perspectives

Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges

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