The ultrasound is the most widely used diagnostic tool in obstetrics nowadays, in particular in the detection of developmental disorders. However, it is important to know which are those disorders that can be detected prenatally with great certainty, and which ones can be detected only partially or not at all prior to giving birth. Pregnant women have high expectations, that any abnormalities should be fully recognizable and detected early during pregnancy, and this often leads to damages lawsuits. Thus, the right information is essential, so the doctors providing information also must have up to date knowledge about the effectiveness of ultrasound diagnostics. Prenatal diagnostics also entails enormous medical professional responsibility, since the consequences of an accidental inaccurate diagnosis can have significant consequences for both the fetus and the family. Thus, it is important to determine that how early and in what proportion the ultrasound protocol of the current Hungarian pregnancy care system is able to detect the individual disorder groups.
Prenatal ultrasound accurately diagnosed 218/290 (75,17%) craniospinal abnormalities, and partially defined the abnormalities in 9.66%, failed to detect abnormalities in 15.17%, with an approximate 0.06% false detection rate.
BackgroundShowing a prevalence rate of 0.5-0.8%, urogenital malformations discovered in newborns is regarded relatively common. The aim of this study is to examine the efficacy of ultrasound diagnostics in detecting developmental disorders in the urogenital system.MethodsWe have processed the prenatal sonographic and postnatal clinical details of 175 urogenital abnormalities in 140 newborns delivered with urogenital malformation according to EUROCAT recommendations over a 5-year period between 2006 and 2010. The patients were divided into three groups; Group 1: prenatal sonography and postnatal examinations yielded fully identical results. Group 2: postnatally detected urogenital changes were partially discovered in prenatal investigations. Group 3: prenatal sonography failed to detect the urogenital malformation identified in postnatal examinations. Urogenital changes representing part of certain multiple disorders associated with chromosomal aberration were investigated separately.ResultsPrenatal sonographic diagnosis and postnatal results completely coincided in 45%, i.e. 63/140 of cases in newborns delivered with urogenital developmental disorders. In 34/140 cases (24%), discovery was partial, while in 43/140 patients (31%), no urogenital malformation was detected prenatally. No associated malformations were observed in 108 cases, in 57 of which (53%), the results of prenatal ultrasonography and postnatal examinations showed complete coincidence. Prenatally, urogenital changes were found in 11 patients (10%), whereas no urogenital disorders were diagnosed in 40 cases (37%) by investigations prior to birth. Urogenital disorders were found to represent part of multiple malformations in a total of 28 cases as follows: prenatal diagnosis of urogenital malformation and the findings of postnatal examinations completely coincided in three patients (11%), partial coincidence was found in 22 newborns (79%) and in another three patients (11%), the disorder was not detected prenatally. In four newborns, chromosomal aberration was associated with the urogenital disorder; 45,X karyotype was detected in two patients, trisomy 9 and trisomy 18 were found in one case each.ConclusionIn approximately half of the cases, postnatally diagnosed abnormalities coincided with the prenatally discovered fetal urogenital developmental disorders. The results have confirmed that ultrasonography plays an important role in diagnosing urogenital malformations but it fails to detect all of the urogenital developmental abnormalities.
Background: Examine the effectiveness of prenatal ultrasound diagnostics in the detection of cardiovascular malformations, and their association with polyhydramnios and oligohydramnios.Methods: We examined the fetal ultrasonography and postnatal clinical/fetopathological data of 372 newborns/fetuses over a 7-year period in a tertiary centre. Fetal echocardiography was performed in cases of suspected US findings between 18-32 weeks. During the ultrasound the amniotic fluid amount was measured and the amniotic fluid index (AFI) or largest amniotic fluid pocket was determined.Results: Prenatal ultrasonographic results and postnatal/fetopathological diagnosis were fully congruent in 236/372 cases (63.4%), and in 66/372 cases of cardiovascular anomalies (17.7%) the discovery was partial, while in 70/372 cases no fetal cardiovascular anomalies were diagnosed during pregnancy (18.8%) (false negative). Cardiovascular malformations were isolated in 255 cases, in 172 of which (67.5%) the results of prenatal ultrasonography and postnatal diagnostics were fully congruent. In 43 cases (16.9%) the prenatal discovery was partial, and in 40 cases (15.7%) there was no prenatal recognition of the malformation.Cardiovascular abnormalities were found as a part of multiple malformations in 76 cases. In 41 fetuses the cardiovascular malformation was associated with chromosomal abnormalities. Cardiovascular malformations were significantly associated with polyhydramnios. Although in some of the cardiovascular malformations the association rate with polyhydramnios was high (AVSD, double outlet right ventricle, tetralogy of Fallot), we found a moderate association rate (19.7%). The association with oligohydramnios was 8.57%. Conclusions:Echocardiography plays an important role in the prenatal diagnostics. In cases of polyhydramnios and oligohydramnios, fetal echocardiography should be performed.
Background: The craniofacial malformations occur less frequently, with a prevalence rate of approximately 0.1%. Our aim is to investigate the effectiveness of prenatal ultrasound in the detection of the craniofacial abnormalities. Methods: In our study, we have processed the prenatal sonographic and postnatal clinical and fetopathological data of 242 anatomical deviations of 218 fetuses with craniofacial malformations over a 12-year period. The patients were divided into three groups: Group I, Totally Recognized; Group II, Partially Recognized; Group III, Not Recognized. To characterize the diagnostics of disorders we developed the Uncertainty Factor F (U) = P (Partially Recognized)/[P (Partially Recognized) + T (Totally Recognized)] and Difficulty factor F (D) = N (Not Recognized)/[P (Partially Recognized) + T (Totally Recognized)].Results: Prenatal ultrasound diagnosis of fetuses with facial and neck malformations completely coincided in 71/218 cases (32.6%) with postnatal/fetopathological findings. In 31/218 cases (14.2%) the detection was only partial, while in 116/218 cases no craniofacial malformations were diagnosed prenatally (53.2%). The Difficulty Factor was high or very high in almost each disorder group, with a cumulative score of 1.28. The Uncertainty Factor cumulative score was 0.32. Conclusions:The effectiveness of the detection of the facial and neck malformations was low (29.75%).The Uncertainty Factor F (U) and Difficulty Factor F (D) parameters, which characterized the difficulties of the prenatal ultrasound examination well.
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