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System Malformations (system + malformation)
Selected AbstractsSonographic measurement of the fetal cerebellum, cisterna magna, and cavum septum pellucidum in normal fetuses in the second and third trimesters of pregnancyJOURNAL OF CLINICAL ULTRASOUND, Issue 4 2003Selami Serhatlioglu MD Abstract Purpose Absence of the cavum septum pellucidum (CSP), the cisterna magna (CM), or both, and enlargement of either or both structures are associated with various central nervous system malformations. In an effort to determine normal sizes and relationships between these cranial structures, we measured the CSP and CM in normal fetuses in the second and third trimesters of pregnancy using transabdominal sonography. Methods Women with uncomplicated pregnancies and normal singleton fetuses between 16 and 38 weeks' menstrual age were included in this prospective study. The width and anteroposterior (AP) diameters of the CSP were measured on the transverse transventricular plane, and the AP diameter of the CM was measured on the transcerebellar plane from the posterior aspect of the cerebellar vermis to the inner edge of the cranium. The transverse and AP diameters of the cerebellum were also measured. In addition, we measured the biparietal diameters (BPDs). Results In total, 130 women participated; 64 were examined in their second trimester and 66 in their third trimester. The mean age of the women was 27.4 ± 4.8 years (range, 18,38 years), and the mean menstrual age of the fetuses was 26.9 ± 6.7 weeks (range, 16,38 weeks). The mean BPD was 66.8 ± 18.7 mm (range, 30,96 mm). The mean width and AP diameter of the CSP and the mean AP diameter of the CM differed significantly between the second and third trimesters (p < 0.001). All measured parameters correlated significantly with menstrual age and BPD. Conclusions In normal fetuses, the CSP and CM should be visible on transabdominal sonography between 16 and 38 weeks' menstrual age. Because abnormalities in these cranial structures may be indicative of central nervous system malformations, the availability of mean sonographic measurements from normal fetuses should be helpful in determining the need for additional testing in fetuses with abnormal measurements. © 2003 Wiley Periodicals, Inc. J Clin Ultrasound 31:194,200, 2003 [source] Evaluation of 2407 fetuses in a Turkish populationPRENATAL DIAGNOSIS, Issue 9 2007Gülay Ceylaner Abstract Objectives Congenital anomalies and intrauterine fetal death (IUFD) are frequent problems in pregnancies. Detection of the etiology is important for genetic counseling, and presenting the geographic distribution of the causes of disorders is necessary for a national policy on precautions. Here, we report the findings of terminated fetuses due to IUFD and congenital anomalies in Turkish population. Methods Physical examinations of fetuses and genetic evaluations of families were done. X-ray studies and autopsy were done in the event of necessity. Findings of these studies were combined with prenatal ultrasound results. All cases were classified according to ICD-10. Results The number of fetuses examined was 2407. Out of these, 1268 fetuses had congenital anomalies. Neurologic anomalies and musculoskeletal system malformations were the most frequent disorders. Specific diagnoses were possible in 64% of all multiple malformation syndromes. Abnormal findings were detected in 18.8% of IUFD fetuses. Nine percent had congenital anomalies and 5.2% had cord complications. The percentage of twins and triplets was 7.5% and 13% of them had anomalies. Conclusion Postmortem evaluation is useful to detect findings necessary for genetic counseling. Our protocol is effective especially in fetuses with congenital anomalies but it can detect only some of the fetal reasons in IUFD cases. A more detailed protocol is needed to investigate IUFD cases. Copyright © 2007 John Wiley & Sons, Ltd. [source] Fetal enterolithiasis: prenatal sonographic and MRI diagnosis in two cases of urorectal septum malformation (URSM) sequencePRENATAL DIAGNOSIS, Issue 4 2006Marek Lubusky Abstract Objectives Enterolithiasis (multiple calcifications of intraluminal meconium) is a rare, prenatal ultrasonographic finding. In this study, our aim was to evaluate the prenatal diagnostic features and discuss the management of the patients. Methods The data of two cases of prenatally diagnosed fetal enterolithiasis were collected from ultrasound scan, magnetic resonance imaging (MRI) and neonatal or postnatal autopsy records. The findings were evaluated in both prenatal and postnatal periods. Chromosomal analysis was performed in one case. An evaluation of primary and secondary malformations was done. Coexisting anomalies were searched for via radiology, neonatal surgery and histopathology. Results Malformations in two cases (both males) with partial and complete urorectal septum malformation (URSM) sequence were described. The absence of an anal opening and presence of a fistula between the urinary and gastrointestinal tract were common findings. These features were considered as primary malformations contributing to the formation of enterolithiasis. Secondary anomalies (urinary and gastrointestinal system malformations, pulmonary hypoplasia, genital and other coexisting anomalies) were evaluated. Conclusions The prenatal detection of enterolithiasis carries a poor prognosis. Most of the previously reported cases were invariably associated with major fetal malformations of the urinary and gastrointestinal tract. It is a warning sign for large bowel obstruction with or without enterourinary fistula. Therefore, adequate gastrointestinal and urologic studies must be undertaken after birth for the final diagnosis. There is a high mortality rate in the reported cases, mostly attributed to associated anomalies, and all survivors required neonatal surgery. It is important to differentiate the partial from the full URSM sequence because the prognosis in the partial URSM sequence is generally good, with long-term survival being common. Copyright © 2006 John Wiley & Sons, Ltd. [source] Differential risks to males and females for congenital malformations among 2.5 million California births, 1989,1997BIRTH DEFECTS RESEARCH, Issue 12 2003Gary M. Shaw Abstract BACKGROUND Although many studies have observed variations in the prevalence of specific malformations by sex, there is a lack of population-based data on potential malformation prevalence differences by sex at birth. METHODS Our objective was to explore differences in the prevalence of structural congenital malformation phenotypes between sexes in a California population of 2.5 million live- and stillbirths, using data from a population-based active surveillance system. Ascertainment was performed among offspring of California women who delivered in nonmilitary hospitals during the period of 1989,1997. Malformations were grouped according to the four-digit malformation codes of the British Pediatric Association. RESULTS Overall, 32,619 males and 21,835 females were considered to have structural congenital malformations, with prevalences of 2.52% and 1.76%, respectively. Thus, males demonstrated a malformation prevalence that was 22% higher than that in females. Using a criterion of a 40% increase or decrease in the relative risk for males, increased risks for 15 and decreased risks for 17 specific malformation categories were observed. Increased risks were associated with most organ systems, with the notable exception of the nervous system (increased risks for nervous system malformations were observed among female births). Risks were not substantially influenced by adjusting for maternal age, race/ethnicity, parity, or education. CONCLUSIONS Our observations extend the relatively few studies that have investigated differential prevalences of a large number of specific structural malformations between male and female births. Birth Defects Research (Part A) 67:000,000, 2003. © 2003 Wiley-Liss, Inc. [source] | ||||||||||