Detection of Fetal Aneuploidies by QF-PCR in Transcervical Cell Samples

Objective. To evaluate the accuracy in the diagnosis of aneuploidies of a quantitative fluorescent polymerase chain reaction (QF-PCR) assay on trophoblastic cells recovered from transcervical cells samples (TCCs) collected by intrauterine lavage (IUL). Study Design. DNA analysis was performed on cells of seemingly trophoblastic origin isolated from IUL samples collected prior to first trimester termination of pregnancy. The analysis was performed by multiplex QF-PCR, using a panel of 29 polymorphic short tandem repeats (STRs) for the chromosomes X, Y, 21, 13, and 18. Results. The QF-PCR analysis on placental samples revealed that among the three cases studied there were two cases of trisomy 21 and one case of monosomy X; the comparison of peak profiles obtained from IUL, placental, and maternal samples confirmed the diagnosis of aneuploidy in all three cases. Conclusion. This study suggests that the detection of chromosomal aneuploidies in micromanipulated TCC samples can be achieved by QF-PCR amplification of selected highly polymorphic and chromosome specific markers. With respect to standard karyotype, QF-PCR analysis has the limitation that only numerical abnormalities of selected chromosomes can be detected but retains the advantages of being quicker, less expensive, and less lab demanding

Relationship between cervical dilation and time to delivery in women with preterm labor

Background: Early recognition of the signs and symptoms of preterm labor (PTL) is important in order to establish treatment. Our aim was to determine the relation between cervical dilatation and time interval from admission to delivery in women with preterm labor. Materials and Methods: A retrospective cohort study was conducted on 83 singleton gestations admitted for preterm labor between 24 weeks and 34 weeks, who subsequently delivered preterm. Women were categorized into three groups of cervical dilatation (0-2 cm, 3-6 cm, >6 cm) and the time interval from admission to delivery was compared. Cox regression analysis was performed to assess the association between cervical dilatation and time interval from admission to delivery. The other variables examined were gestational age (GA) at admission and length of the cervix, when performed. Results: The time interval from admission to delivery was significantly shorter in women with higher dilatation of the cervix (p < 0.02) and in those admitted at a more advanced gestational age (p < 0.05). Forty-eight percent of women with cervical dilatation 0-2 cm delivered in the first 48 h compared to 85% of the women with a dilatation of 3-6 cm. No significant association was found between the length of the cervix and the time interval to delivery. Conclusion: Dilatation of the cervix and gestational age at admission are associated with the time interval to delivery in women with preterm labor. The assessment of the length of the cervix is unlikely to add clinical information in women with an already dilated cervix

Comparison of Computerized Cardiotocography Parameters between Male and Female Fetuses

Fetal sex has been identified as an important factor influencing pregnancy outcomes, but its impact on fetal heart rate (FHR) variability in uncomplicated pregnancies is still unclear. The objective of the study was to assess short-term variability (STV) and other computerized cardiotocography (cCTG) parameters in relation to fetal sex during fetal antepartum surveillance. We retrospective compared cCTG parameters of male and female fetuses in uncomplicated singleton pregnancies at term. In addition to univariate analysis, a multivariate analysis was performed taking into account maternal characteristics. A total of 689 cCTG recordings were analyzed: 335 from male fetuses and 354 from female fetuses. Analysis of cCTG results by fetal sex showed no significant difference in percentage of signal loss, number of contractions, movements, accelerations and decelerations, long-term variability (LTV), and STV at both uni-and multivariate analysis. There was a statistically significant difference for baseline FHR at the univariate analysis, which was not confirmed by a multivariate analysis. Our results suggest that fetal sex did not affect cCTG parameters in uncomplicated term singleton pregnancies, and therefore it does not need to be taken into account when interpreting cCTG in physiological conditions

Prenatal diagnosis of X-linked adrenoleukodystrophy associated with isolated pericardial effusion

This is the first reported case of fetal pericardial effusion in association with X-linked adrenoleukodystrophy and hypocortisolism from a nonautoimmune cause. Our hypothesis is that in experienced hands and after accurate genetic counseling, isolated pericardial effusion can constitute an indication for a severe metabolic disease

Cervicoisthmic choriocarcinoma mimicking cesarean section scar ectopic pregnancy

Primary choriocarcinoma of the uterine cervix is an extremely rare disease. The clinical diagnosis of cervical choriocarcinoma is difficult, because of its rarity and being non-specific abnormal vaginal bleeding the most common symptom. In the present report, the authors present a case of cervical choriocarcinoma, which was initially misdiagnosed as a cesarean section scar ectopic pregnancy. Remission of cervical choriocarcinoma was accomplished with the combination of hysterectomy and chemotherapy