Journal Article

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

Orteschi, Daniela, Di Simone, Nicoletta, Genuardi, Maurizio, Sisti, Leuconoe Grazia, Scambia, Giovanni, D’ippolito, Silvia, Castellani, Roberta, Pomponi, Maria Grazia, Zollino, Marcella, Rossi, Esther Diana

2017

Overview

To 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. Women 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. 63 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. The 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.

• Publisher: Public Library of Science,Public Library of Science (PLoS)
• Subject: Aborted Fetus / Abortion / Abortion, Spontaneous - genetics / Adult / Analysis / Biology and Life Sciences / Chromosome Aberrations / Chromosomes / Contamination / Criteria / Crown-Rump Length / Cytogenetic Analysis / Cytogenetics / Embryos / Female / Fetus - anatomy & histology / Fetuses / Genetic aspects / Genetic Counseling / Gynecology / Health aspects / Health risk assessment / Humans / Hybridization / Likelihood ratio / Medicine / Medicine and Health Sciences / Microsatellite Repeats / Middle Aged / Miscarriage / Obstetrics / Pathology / Physiological aspects / Pregnancy / Research and Analysis Methods / ROC Curve / Single-nucleotide polymorphism / Studies / Surgery / Tissues / Ultrasonic imaging / Ultrasonography, Prenatal / Yield