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

Abstract

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.

Investigating the “Fetal Side” in Recurrent Pregnancy Loss: Reliability of Cell-Free DNA Testing in Detecting Chromosomal Abnormalities of Miscarriage Tissue

“…On the other hand, our results are in line with the data already reported in the literature and with what is expected on the basis of the age and clinical history of the included patients [42]. Our study should be considered as a pilot study conducted on a very selected population and that is in line with our previous efforts to improve the genetic information in couples with RPL [43]. Our results can be used as a rationale for validating cfDNA on a larger cohort of women diagnosed with pregnancy loss.…”

Abortions in First Trimester Pregnancy, Management, Treatment

“…Genetics reasons of recurrent pregnancy loss be subdivided in embryo abnormalities resulting of known parental genetic pathology and embryo aneuploidy in parents to be chromosomally normal A variety of genetic factors including aneuploidy (gain or loss of a chromosomal), chromosomal imbalance resulting from harbored translocations, inversions, deletions, duplications within chromosomes, single gene mutations led to recurrent pregnancy loss (RPL) [1,[22][23][24][25][26][27][28][29][30][31][32][33]. In 3-5% of couples with RPL, the ratio of parental chromosome abnormalities in contrast to the general population is 0.7%.…”