Fetal loss in the first trimester after demonstration of cardiac activity: relation of cytogenetic and ultrasound findings

Abstract

A retrospective comparison of cytogenetic and ultrasound findings in first trimester spontaneous fetal loss after demonstration of cardiac activity was made. The crown-rump length (CRL) was measured twice for each fetus resulting in spontaneous abortion: (i) CRL was measured in the viable state while demonstrating cardiac activity, and the growth deviation was expressed as the measured/expected CRL ratio (M/E CRL ratio); (ii) in the same fetus, CRL was measured after confirmation of fetal death, and designated as the post-mortem CRL. The chorionic tissues of these abortuses were karyotyped. The CRL of fetuses which resulted in normal deliveries were also measured as controls. As a result, 16 of 24 abortuses displayed an abnormal chromosomal analysis (67%). The mean M/E CRL ratio of still-viable fetuses was smaller than that of control fetuses (0.74 +/- 0.20 versus 0.98 +/- 0.13 respectively, P < 0.01). The differences in ratio between karyotypically normal and abnormal abortuses were not statistically significant. The post-mortem CRL of dead fetuses was > 20 mm in four of five monosomy X, two of three 21-trisomy, one of three triploidy and none of eight embryos with normal karyotype and five other trisomies. In conclusion, our study demonstrated that the M/E CRL ratio could be used as a predictor of spontaneous abortions, although it does not discriminate abnormal karyotypes from normal ones. The embryos with a post-mortem CRL more than 20 mm have a higher likelihood of suffering monosomy X or 21-trisomy. The ultrasonographic findings might offer a cytogenetic clue as to a possible cause to the developmental arrest.

Ultrasonographic findings in spontaneous miscarriage: relation to euploidy and aneuploidy

“…A retrospective study of 102 early miscarriages could not find any significant difference in ultrasound landmarks between cases with euploidy and aneuploidy, but the incidence of aneuploidy was low and a high rate of maternal contamination in the cytogenetic analysis was suspected (89.6% 46,XX in euploid cases) (5). Likewise, in another retrospective comparison of cytogenetic results and ultrasound findings in 30 firsttrimester miscarriages with previous demonstration of heart activity, Bessho et al (10) found that measured/estimated ratio of CRL among fetuses that later miscarried was smaller than that of a normal control group. Presumably because of the small size of the study group, the difference between euploid and aneuploid samples was not statistically significant (10).…”

“…In a small series of first-trimester miscarriages the ratio between measured and expected CRL was smaller in cases of miscarriage than in normal pregnancies, but the study did not discriminate between euploidy and aneuploidy (10). On the other hand, in a series of 137 miscarriages, Coulam et al (11) did not find a relation between ultrasound findings and karyotype.…”

Cytogenetic testing of anembryonic pregnancies compared to embryonic missed abortions

“…It is well known that the most common cause of first trimester loss is embryonic aneuploidy [1,3,7,14,15]. However, the benefit of performing a karyotype on the POC after miscarriage is debated.…”

“…When a miscarriage occurs, patients are often concerned not only with the cause of the miscarriage but also with the risk of recurrence. The majority (50-76%) of these losses is due to embryonic aneuploidy [1][2][3][4][5][6][7][8][9]. Although not uniformly shown in all studies, some authors have found that women who miscarry genetically normal embryos have higher recurrence rates than those who miscarry aneuploid embryos [4,10,11].…”

Transvaginal Amniotic Puncture for Cytogenetic Evaluation of Missed Abortions

“…Although POC has traditionally been used to detect chromosomal abnormalities in pregnancy loss [13], this report clearly illustrates the limitations of POC. In con trast, TAP commonly yielded findings representing the fetus that were missed by POC.…”