Association between different morphological types and abnormal karyotypes in early pregnancy loss

• Published in: Ultrasound in obstetrics & gynecology 2011-02, Vol.37 (2), p.219-225
• Main Authors: Angiolucci, M., Murru, R., Melis, G., Carcassi, C., Mais, V.
• Format: Article
• Language: English
• Subjects: Abortion; Abortion, Spontaneous - diagnostic imaging; Abortion, Spontaneous - genetics; Adult; Aneuploidy; Biological and medical sciences; chromosomal abnormalities; Chromosome Aberrations; Chromosome Disorders - diagnostic imaging; Chromosome Disorders - genetics; Chromosome Disorders - mortality; Clinical trials; Contamination; CRL; Diseases of mother, fetus and pregnancy; early pregnancy loss; Embryos; Female; Fetuses; gestational sac; Gynecology; Gynecology. Andrology. Obstetrics; Hospitals; Humans; Italy; karyotype; Karyotypes; Maternal Age; Medical sciences; Microsatellite Repeats - genetics; Microsatellites; Obstetrics; Organ Size; Pregnancy; Pregnancy Complications - diagnostic imaging; Pregnancy Complications - genetics; Pregnancy Trimester, First; Pregnancy. Fetus. Placenta; Prospective Studies; transvaginal ultrasound; Trisomy; Ultrasonography, Prenatal; Ultrasound; Yolk sac; Yolk Sac - diagnostic imaging; Yolk Sac - pathology
• ISSN: 0960-7692; 1469-0705; 1469-0705
• DOI: 10.1002/uog.7681

Objectives To identify the abnormal transvaginal ultrasound (TVS) findings typical of aneuploidic pregnancies that end with early pregnancy loss (EPL). Methods This was a prospective clinical trial over a 2½‐year period from January 2004 to June 2006 at the University Hospital of Cagliari, Italy. One hundred and fifty‐six singleton pregnancies with EPL were evaluated by TVS, both before and at the moment of EPL diagnosis. Fetal karyotyping was performed on products of conception using microsatellite analysis to exclude maternal contamination in 46,XX cases. The proportions of abnormal karyotypes were compared among different groups of EPLs characterized by different morphological features. Results Six morphological types were identified in EPLs, one normal and five abnormal (small gestational sac, small embryo/fetus, early symmetrical arrested growth, enlarged yolk sac and empty sac). The highest rate of chromosomal abnormalities was observed in the early symmetrical arrested growth group (100%), followed by small embryo/fetus (94.1%), enlarged yolk sac (93.3%) and empty sac (72.2%) groups. The majority of cases of trisomy 22 (92.3%) were in the enlarged yolk sac group and the majority of cases with a 45,X karyotype were in the small embryo/fetus group (77.8%). Conclusions There is an association in EPLs between some abnormal karyotypes and some morphological types. The demonstration by TVS of abnormalities in the development of early pregnancy structures could be helpful for predicting aneuploidy in EPLs. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd.