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

摘要

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).