The likelihood of detecting abnormal karyotypes in fetuses with a single major anomaly or "soft" marker on ultrasonographic scanning.

OBJECTIVE: Fetuses with abnormal karyotypes often exhibit distinctive ultrasonographic markers, including major anomalies and "soft" markers, indicating potential chromosomal issues. A crucial consideration arises when a single fetal anomaly is detected, raising the question of whether karyotyping is warranted, given the associated procedural risks. Our objective was to establish correlations between single fetal anomalies identified through ultrasound and chromosomal abnormalities. METHODS: A cross-sectional study analyzed the karyotype of 1493 fetuses and detected a single ultrasonographic anomaly over a 16-year period. Karyotyping was performed using the standard karyotype technique. Moreover, data regarding the type of anomaly detected ultrasonographically, karyotype results, and outcomes following interventions were collected. Among other methods, the use of positive likelihood ratios (LR+) was used to evaluate the diagnostic accuracy of ultrasound compared to karyotyping. RESULTS: In total, an aberrant karyotype was identified in 99 fetuses (6.6%). This was most commonly observed in cases involving a "soft" marker, occurring in 27 out of 218 fetuses (12.4%). The most frequently detected aberrant karyotype resulted from aneuploidies (80.6% of cases), notably trisomy 21 (50.5%). "Soft" markers predicted chromosomal issues (LR+ = 1.9; OR = 2.4), and isolated polyhydramnios (LR+ = 1.54; OR = 1.6) showed significance in predicting fetal chromosomal aberrations. CONCLUSION: When assessing the necessity for karyotyping in fetuses with single major anomalies or "soft" markers, it is crucial to consider individual risks for chromosomopathies, including the LR+ of the detected marker. In cases where fetuses exhibit isolated anomalies with a normal karyotype, additional diagnostic measures, such as molecular cytogenetic and molecular genetics techniques, may become necessary.

[Assessment of the natural course and treatment of premalignant uterine cervical lesions in pregnancy].

INTRODUCTION: Premalignant changes of the uterine cervix occur with similar frequency during pregnancy and in non-pregnant women. Due to the fact that any surgery on the cervix can jeopardize pregnancy, it is important to define the protocol of procedures for the treatment of these changes during pregnancy. OBJECTIVE: The aim of the study was to investigate the natural course of premalignant cervical changes during pregnancy and the impact of their treatment on the pregnancy course. METHODS: Study involved all patients with colposcopically, cytologically and hystopathologically diagnosed premalignant cervical changes during pregnancy from 2002 to 2008. Patients were divided into two groups according to the applied treatment during pregnancy: surgery or monitoring by regular colposcopic and cytological examinations. The two groups were compared concerning treatment outcome, persistence or regression of changes and pregnancy duration. RESULTS: Study involved 58 patients. Spontaneous remission of lesions occurred after pregnancy in 63.79% of cases. High-grade squamous intraepithelial lesion (H-SIL) demonstrated a higher rate of persistency in comparison with low-grade squamous intraepithelial lesion (L-SIL) (X2=25.115; p<0.05). Only one finding of L-SIL progressed into H-SIL in the monitored group. Patients who underwent conization during pregnancy had a significantly more frequent preterm deliveries (X2=14.369; p<0.05). CONCLUSION: The obtained high rate of spontaneous regression of cervical changes after pregnancy as well as the lower incidence of preterm births in patients who were not treated by conization during pregnancy, confirm that patients with premalignant cervical changes should be, if invasion is excluded, under follow-up throughout pregnancy by regular colposcopic and cytological examinations. Therapeutic conization, due to numerous complications, should be performed only when there is a suspected presence of a more severe form of the disease (micro invasive and invasive carcinoma).

KATP channels are up-regulated with increasing age in human myometrium.

It is well established that ageing is associated with decrease in myometrial efficiency and higher incidence of labour complications. In myometrium, the presence of ATP-sensitive K+ (KATP) channels has been detected and they could be a factor in regulating uterine quiescence in pregnancy and contractions during labour. Here, we have examined a possibility of ageing-mediated regulation of KATP channels in the human myometrium. Myometrial samples were taken from non-pregnant women undergoing hysterectomy (n=34) and from women undergoing caesarean section in late pregnancy (n=36). Real time RT-PCR revealed that mRNAs of all known KATP channel subunits were present in the human myometrium. In non-pregnant myometrium, ageing up-regulated SUR2B/Kir6.1, subunits forming KATP channels in this tissue, without affecting the expression of other channel subunits. In the late pregnant myometrium, the level of subunits that do not form functional KATP channels was not affected by age within 20-41 age range. However, uterine SUR2B and Kir6.1 were up-regulated in parturient over 35 years. An ageing-induced increase in those channel subunits was confirmed by Western blotting. Thus, this study suggests that KATP channels are up-regulated with increasing age in human myometrium. This may help explain, at least partially, increased rate of birth complications in women aged over 35 years.