Association between different morphological types and abnormal karyotypes in early pregnancy loss.
OBJECTIVE
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.
Angiolucci
M
M
Department of Obstetrics and Gynecology, University of Cagliari, Cagliari, Italy.
Murru
R
R
Melis
G
G
Carcassi
C
C
Mais
V
V
D000022:Abortion, Spontaneous / Q000000981:diagnostic imaging* / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000000981:diagnostic imaging* / Q000235:genetics / Q000401:mortality; D005260:Female; D006801:Humans; D007558:Italy; D008423:Maternal Age; D018895:Microsatellite Repeats / Q000235:genetics; D009929:Organ Size; D011247:Pregnancy; D011248:Pregnancy Complications / Q000000981:diagnostic imaging* / Q000235:genetics; D011261:Pregnancy Trimester, First; D011446:Prospective Studies; D016216:Ultrasonography, Prenatal; D015017:Yolk Sac / Q000000981:diagnostic imaging / Q000473:pathology