Chromosomal anomaly spectrum in early pregnancy loss in relation to presence or absence of an embryonic pole

Objective: To compare the cytogenetic findings in a series of missed miscarriages evaluated by chorionic villus sampling, in relation to embryonic pole presence (embryonic or anembryonic). Design: Prospective cross-sectional study. Setting: Tertiary referral hospital. Patient(s): Women presenting with a missed miscarriage. Intervention(s): Transcervical chorionic villus sampling and cytogenetic studies in the chorionic villi with use of the semidirect method. Main Outcome Measures(s): Embryonic pole presence or absence assessed by transvaginal ultrasound examination. Type of chromosomal anomalies found in both subgroups. Result(s): Although the chromosomal abnormality rate was similar for miscarriages with absent or present embryo (61% vs. 68% respectively), frequencies for viable autosomal trisomies (2.3% vs. 19%) and monosomy X (0% vs. 9.2%) were significantly lower when no embryonic pole was seen. Conclusion(s): Viable autosomal trisomies and monosomies X appear not to be a common cause of miscarriage with an early fetal demise (anembryonic miscarriage). (Fertil Steril (R) 2010;94:2564-8. (C) 2010 by American Society for Reproductive Medicine.)