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A case study is present in which a A 29-year-old pregnant woman suffering from diabetes was diagnosed with congenital defect known as coronary artery fistula (CAF). It notes that the fetal echocardiography revealed dilated left coronary artery. The article mentions the delivery of a female infant through cesarean section and that the infant was detected patent ductus arteriosus (PDA). The case also mentions the surgery of the fistula and PDA.

We describe a case series of six fetuses with open spina bifida (OSB) from four different prenatal units, where the anomaly was detected at the routine 11-13-week ultrasound examination. Crown-rump length ranged from 49 to 78 mm. All cases were first suspected during nuchal translucency thickness measurement in the mid-sagittal plane of the face. OSB was lumbosacral in five fetuses and cervical in one. The intracranial translucency (IT) was obliterated in two cases, but some fluid was found in the other four cases. However, in all cases the typical landmarks of a normal posterior brain and normal IT were absent. In all six cases the ratio of brainstem diameter to brainstem-occipital bone distance was increased (≥ 1). This detection of an abnormal posterior brain led to a targeted examination and detection of the spinal lesion during the same examination in five cases, whereas in one suspicious case the patient was recalled at 17 weeks, when the abnormality was detected. Two fetuses had both multiple anomalies and trisomy 18. These prospective cases demonstrate the feasibility of using the standard mid-sagittal plane commonly used for NT measurement to assess the IT and the posterior brain and to determine the presence of OSB during NT screening. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Among full autosomal trisomies, only trisomies of chromosome 21 (Down syndrome), 18 (Edwards syndrome) and 13 (Patau syndrome) are compatible with postnatal survival. But the mechanisms, how a supernumerary chromosome disrupts the normal development and causes specific phenotypes, are still not fully explained. As an alternative to gene dosage effect due to the trisomic chromosome a genome-wide transcriptional dysregulation has been postulated. The aim of this study was to define the transcriptional changes in trisomy 13, 18, and 21 during early fetal development in order to obtain more insights into the molecular etiopathology of aneuploidy. Using oligonucleotide microarrays, we analyzed whole genome expression profiles in cultured amniocytes (AC) and chorionic villus cells (CV) from pregnancies with a normal karyotype and with trisomies of human chromosomes 13, 18 and 21. We observed a low to moderate up-regulation for a subset of genes of the trisomic chromosomes. Transcriptional levels of most of the genes on the supernumerary chromosome appeared similar to the respective chromosomal pair in normal karyotypes. A subset of chromosome 21 genes including the DSCR1 gene involved in fetal heart development was consistently up-regulated in different prenatal tissues (AC, CV) of trisomy 21 fetuses whereas only minor changes were found for genes of all other chromosomes. In contrast, in trisomy 18 vigorous downstream transcriptional changes were found. Global transcriptome analysis for autosomal trisomies 13, 18, and 21 supported a combination of the two major hypotheses. Copyright © 2008 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to determine prospectively the change in results of bone ultrasonometry measurement during pregnancy in healthy German women. Study design Quantitative ultrasonometry (QUS) of the phalanges was performed in 60 healthy, pregnant women. Measurements of amplitude-dependent bone propagation velocity (speed of sound; AdSOS) and the bone transmission time (BTT) were performed during the three trimesters of pregnancy in 60 patients. Results: During pregnancy, a significant increase in body weight and body mass index (p < or = 0.001) were observed. In accordance with bone ultrasonometry, a significant reduction in AdSOS was found in each trimester; AdSOS was significantly lower in the second and third trimesters compared with the first (p < or = 0.001). The BTT values also decreased significantly in the second and third trimesters compared with the first (p < or = 0.001). No significant influence was found of possible risk factors such as family risk of osteoporosis, previous pregnancies, age at menarche and prior use of oral contraceptives on QUS measurement results. Conclusions: During normal pregnancy, we found a significant reduction of quantitative ultrasonometry variables AdSOS and BTT in healthy pregnant women. This decrease had a large influence on the t score and Z score of QUS in our study and demonstrates therefore a possible clinical relevance. The decrease was independent of osteoporosis-related risk factors and the increase in body weight. More large-scale, prospective studies are needed to increase our knowledge about the mechanism of bone turnover during pregnancy and lactation. [ABSTRACT FROM AUTHOR]

AIMS: To determine the TH-1/TH-2 cytokine pattern in peripheral blood leukocytes (PBL) in late second- and third trimester in normal pregnancies, in comparison to patients with spontaneous preterm delivery (PTD; < 37 completed weeks' gestation). METHODS: A cross-sectional retrospective study was performed in a tertiary care obstetric unit with healthy non-pregnant women (n=7); healthy pregnant women (n=25); patients (n=25) with preterm labor (defined as uterine contractions or changes in cervical length). The phenotypic analysis of TH-1/TH-2 immune deviation was examined in PBL. RESULTS: 26% PTD (n=13) were recorded. Patients delivering at term (n=37, 74%) were characterized by an upregulation of IL-2, IFN-gamma and IL-4 production during weeks 20-25, followed by a strong suppression in cytokine production, except for TGF-beta. Towards the end of pregnancy cytokine levels returned to normal as observed in non-pregnant women. In contrast, PTD showed an inverse pattern for IL-2 and IFN-gamma with marked suppression in IL-2 and IFN-gamma production between weeks 20-25, followed by a strong stimulation of these cytokines. No differences were observed in IL-4 and TGF-beta production. CONCLUSION: An inverse pattern in IL-2 and IFN-gamma production in PBLs between weeks 20-30 is seen in PTD as compared to patients delivering at term. [ABSTRACT FROM AUTHOR]

Objectives: This study was performed to compare quantitative ultrasonic tissue characterization of the fetal lung at different gestational ages in uncontrolled diabetic patients with that in normal uncomplicated pregnancies. Methods: A total of 44 women at 24-37 weeks' gestation with the diagnosis of diabetes in pregnancy were enrolled. Data were compared to those of the control group, which consisted of 140 women with uncomplicated pregnancies of the same gestational age. Longitudinal and transverse sections of the fetal thorax and upper abdomen were examined. A region of interest of constant size was defined and the tissue-specific gray scale was determined by using interactive software. Results: Compared with normal pregnancies, fetal lungs of diabetic pregnancies have a higher echogenicity between 28 and 37 weeks of gestation. The lung mean gray values (MGV) only differed significantly between 30 and 31 weeks of gestation in the group with diabetes (P = 0.033) compared to the control group. The MGV of the liver in diabetic and normal pregnancies is similar during pregnancy, significant differences being found only at 30-31 weeks of gestation (P = 0.038). The lung-to-liver ratio in the control group showed a significant increase from 24 to 31 weeks and a slight non-significant decrease after 31 weeks. The ratio in the group with diabetes increased slightly up to week 33 and decreased slightly afterwards. Conclusion: Fetal lung MGV in uncontrolled diabetic pregnancies compared to that in uncomplicated pregnancies differs significantly only between 30 and 31 weeks of gestation. [ABSTRACT FROM AUTHOR]

Objective: To develop a clinically useful tool to predict the probability of preterm delivery in patients with threatened preterm labor. Methods: One hundred and seventy patients with preterm labor between 24 and 34 weeks of gestation were included. Preterm delivery < 37 weeks of gestation was the main endpoint of the study. The data were randomized and split into an evaluation set (n = 85) and a validation set (n = 85). The evaluation set was subjected to stepwise backward logistic regression analysis to quantify the relative impact of four potential risk factors, including individual patient factors, results of a rapid fetal fibronectin assay, and sonographic measurement of cervical length. Using the constant of the logistic regression analysis and the beta-coefficients for the identified risk factors the individual probability of preterm delivery for each woman of the validation dataset was calculated. The area under a receiver-operating characteristics curve (AUC) was used to evaluate the discriminating power of the score. Results: The overall rate of preterm delivery was 27.1%. The logistic regression analysis was performed for the potential predictors of spontaneous preterm delivery, identified by univariate analysis. These were positive fetal fibronectin, cervical length, previous preterm delivery and maternal age. Two risk factors were independent predictors of preterm delivery and were included in the CLEOPATRA I (clinical evaluation of preterm delivery and theoretical risk assessment) score: cervical length measurement and previous preterm delivery were associated with a higher risk of preterm delivery (odds ratio, 7.65 and 6.74, respectively). Since fetal fibronectin assay is not available at all institutions worldwide, it was excluded from the initial model. In the CLEOPATRA II model the risk factors fetal fibronectin and previous preterm delivery were associated with higher risk of preterm delivery, with odds ratios of 17.9 and 4.56, respectively. The discrimination power (AUC) obtained from the models were: CLEOPATRA I, 0.69 (95% CI, 0.56-0.82); CLEOPATRA II, 0.81 (95% CI, 0.69-0.93). Conclusion: In symptomatic women the risk for preterm delivery can be predicted best with the CLEOPATRA II score based on fetal fibronectin and previous preterm delivery. [ABSTRACT FROM AUTHOR]

OBJECTIVE: To evaluate clinical risk factors, cervical fetal fibronectin (fFN), cervical length, and mean gray value assessment in predicting of preterm delivery (PTD) in patients with signs and/or symptoms of preterm labor (PTL). STUDY DESIGN: One hundred and seventeen women with PTL between 24 and 34 weeks of gestation were included. Cervical swabs were tested for fFN using the rapid fFN assay. When 2-dimensional transvaginal ultrasound measurement of cervical length was completed, a region of interest (ROI) of constant size was defined in the midsection of the posterior wall, and the tissue-specific gray scale was determined. The end point were PTDs at <34 and <37 weeks of gestation. RESULTS: In univariate analysis, the three strongest predictors of spontaneous preterm birth <34 weeks were positive fFN (relative risk [RR] 8.9; 95% confidence interval [CI] 2.6-30.1), cervical length < or =2.5 cm (RR 6.9; 95% CI 1.6-29.7), and a low mean gray value of < or =5.97 (RR 7.9; 95% CI 2.3-27.2). Predictors significantly associated with spontaneous PTD at less than 37 weeks of gestation included previous PTD in multiparas (RR 3.9; 95% CI 1.6-9.5), positive fFN (RR 7.6; 95% CI 3.8-15.3), cervical length < or =2.5 cm (RR 2.6; 95% CI 1.4-5.1) and a low gray scale value of < or =6.54 (RR 4.5; 95% CI 2.3-8.9). In the final regression models used to predict spontaneous PTD <34 weeks and <37 weeks of gestation, both a positive fetal fibronectin (odds ratio [OR] 13.4; 95% CI, 2.5-72.1, P=0.003 vs. OR, 17.3; 95% CI 4.9-61.8, P<0.001) and a low gray scale value (OR 6.3 95% CI 1.3-29.4, P=0.02 vs. OR, 7.1; 95% CI 2-25.2, P=0.003) remained powerful predictors. The RRs of spontaneous PTD <37 weeks has been analyzed by a combination of these significant parameters. Low mean gray value < or =6.54 and negative fFN had a 10.3-fold (95% CI 2-74.5) increased risk of spontaneous preterm birth at <37 weeks. Combination of positive fFN and normal gray level (>6.54), had a higher increase risk of PTD (RR 18.1; 95% CI 4.4-76.7). When both factors were positive, the RR increases to 24.8 (95% CI 6.2-98.7). CONCLUSIONS: Combined use of rapid fFN and cervical gray value analysis improves the diagnostic efficiency and allows identification of women at risk for preterm delivery and in need for further prophylactic/therapeutic intervention. [ABSTRACT FROM AUTHOR]

The death rate from human diaphragmatic hernia (CDH) ranges from 50 to 80%, mainly due to the associated lung hypoplasia. To prevent these irreversible pathological and physical defects, the question of intrauterine surgical intervention arises. The histological changes of the lung tissue after inducement of a diaphragmatic hernia were examined. Of special interest was the time elapsing until the development of lung hypoplasia. Methods: A model of intrauterine inducement of diaphragmatic hernia was established using five fetal lambs to study consecutive pulmonary hypoplasia. Inducement of a diaphragmatic hernia was undertaken between 105 and 108 days' gestation. Lung tissue was examined histologically on postoperative days 8, 17, 21, 22, and 25 after inducement of the defect. Results: On postoperative days 8, 17, and 21, no signs of pulmonary hypoplasia were found on histological examination. A pulmonary hypoplasia was found in two fetuses (on the 22nd and 25th postoperative day). The pathological and anatomical examination of a unilateral pulmonary hypoplasia after a short period of time shows that the artificially created diaphragmatic defect is a good model for producing a congenital diaphragmatic hernia. Discussion: The severity of the pulmonary hypoplasia is related to the duration of lung [ABSTRACT FROM AUTHOR]

We report on a case of a large intra-abdominal teratoma diagnosed antenatally and managed successfully after birth. Intra-abdominal teratomas are rare in prenatal life. Ultrasound examination shows a heterogenic tumor with cystic and solid components. After postpartum surgical removal, the prognosis is generally good. Copyright © 2009 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Background: Since the incidence of premature delivery has remained constant, despite intensive safeguard methods over the last decade, the texture features of the uterine cervix were evaluated using quantitative sonographic gray level analysis at different gestational ages (GA). Materials and methods: For this purpose quantitative ultrasonic tissue densitometry of the uterine cervix was obtained from 30 asymptotic female patients (group A, mean: 30.3 GA) and compared with values obtained from 16 symptomatic female patients (group B, mean: 29.5 GA) with uterine contractions and shortening of the cervix at similar gestational ages. Once the two-dimensional transvaginal sonographic measurement of cervical length was completed a region of interest of constant size was defined in the mid-section of the posterior wall and the tissue-specific gray scale distribution was determined. Results: Quantitative ultrasonic tissue characterization of uterine cervix was feasible in all 46 patients at all gestational ages. In patients with premature contractions and shortening of cervix, the average gray scale values were found to be statistically reduced in comparison with those obtained from asymptotic patients. These results showed good reproducibility and intraobserver variability and were found to be independent from the measured cervical length. Conclusion: Our results prove that quantitative ultrasonic tissue characterization of the uterine cervix might serve as a new parameter for predicting premature delivery in the future. [ABSTRACT FROM AUTHOR]