Spontaneous abortion and recurrent miscarriage: A comparison of cytogenetic diagnosis in 250 cases

Abstract

ObjectiveThe purpose of this study was to determine the frequency and distribution of cytogenetically abnormal miscarriages in couples with spontaneous abortions (SA) or recurrent miscarriages (RM).MethodsKaryotyping of specimens from 164 abortuses with SA and 86 abortuses with RM was successfully performed according to the standard cytogenetic methods using G-banding technique.ResultsAmong the total 164 cases of SA group, 81 (49.4%) were euploid and the rest (83, 50.6%) showed chromosomal abnormalities. In RM(≥2) and RM(≥3) group, 31 (36.0%)/27 (34.6%) cases were euploid and 55 (64.0%)/51(65.4%) cases were abnormal, respectively. A statistically significant difference was found in the rate of cytogenetic abnormality between SA and RM groups (P<0.05). In all groups, women with advanced maternal age (≥35 years) had a higher rate of chromosome anomalies compared with women younger than age 35 (normal:abnormal = 32.4%:67.6% for ≥35 years and 53.8%:46.2% for <35 years in SA; 19.2%:80.8%/21.7%:78.3% for ≥35 years and 43.3%:56.7%/40.0%:60.0% for <35 years in RM(≥2) and RM(≥3), respectively; P<0.05). In SA group, an increase of normal karyotypes was noted with increased gestational age (<10 week, 38.0%; 10-15 week, 53.5%; 16-20 week, 65.7%). In RM group, most of cases were in <10 week and the frequency of trisomies with chromosomes 1 to 10 were increased compared with that of SA.ConclusionThere was a statistically significant difference in the frequency and distribution of chromosomal abnormalities between SA and RM groups. Our results will provide useful information for diagnosis and genetic counseling of patients with SA or RM.

Comparative Cytogenetic Analysis of Spontaneous Abortions in Recurrent and Sporadic Pregnancy Losses

“…Some authors did not find any statistically significant difference in the rates of cytogenetic abnormalities in abortions between couples with and those without RPL [15][16][17] . Others found that embryos with normal karyotypes were more common in RPL groups than in SA groups [18,19] , or, conversely, that cytogenetic abnormalities occurred more frequently in RPL groups than in SA groups [20] . Because of the limited sample sizes in most of these studies (ranging from 50 to 234 cases) and because of the inconsistency of the results obtained, our study aimed to compare the distribution of different types of chromosomal abnormalities in the largest study group to date (to the best of our knowledge) of miscarriages from couples with RPL and SA.…”

Cytogenetic Analysis and Thrombophilia-Associated Gene Mutations of Couples with Recurrent Miscarriage

“…RM etiologies of inherited thrombophilia in the literature there are conflicting studies about the possible role. There was a statistically significant correlation between the cytogenetic abnormalities with recurrent miscarriages reported in a study by Choi et al [7].…”

First trimester pregnancy loss: Clinical implications of genetic testing

“…The frequency of genetic abnormalities depends on the developmental stage of pregnancy, maternal age and the number of previous miscarriages . In general, the earlier in gestation the pregnancy is lost, the more likely chromosomal abnormality will be detected . However, in recurrent pre‐embryonic pregnancy loss, especially in subfertile young women (under 35 years), genetic abnormalities are signifficantly less frequent (9.1–29.8%), which indicates a causative role of other factors …”

“…Among the heterogeneous causes of miscarriage, chromosomal abnormalities, mainly aneuploidies, occur most frequently . Although in the great majority of cases they are de novo mutations and their impact on the risk in subsequent pregnancies is compound, identification of the cause of miscarriage plays an important role in genetic counseling …”