Prenatal Ultrasound Scan Research Articles

Congenital vascular malformations: A series of five prenatally diagnosed cases

In the literature there are single case reports of mediastinal/chest and limb combined vascular malformations (previously labeled "hemangiolymphangiomas"). A variable outcome in such prenatally diagnosed cases is reported. Presented here is the only series of patients reported with these macrocystic, predominantly lymphatic malformations. Prenatal ultrasound scan and post-mortem examination findings are described. In our experience the outcome has been poor and this highlights the dilemma faced by clinicians and parents when these lesions are diagnosed prenatally. We present a series of five, prenatally diagnosed vascular (combined vascular malformations and simple localized lymphatic malformations) malformations. Three cases had lower leg involvement with extension into the abdomen and two cases had lymphatic malformations of the chest wall with involvement of the upper limb(s). Management of a twin pregnancy, in which one twin was affected, is described. In two cases, termination of pregnancy was undertaken because of the extensive nature of the lesion. One case died in utero and one in the neonatal period. The fifth case is an 11-year-old boy, whose lower limb deformity illustrates the considerable morbidity associated with this condition.

Clinical and radiological characteristics of Nigerian boys with posterior urethral valves

Posterior urethral valve (PUV) obstruction is the most common cause of bladder outlet obstruction in boys. Currently, the diagnosis of PUV is commonly made prenatally. In our environment, however, prenatal diagnosis is rare and the diagnosis is usually made postnatally from the clinical and radiological features. This study therefore examines the clinical and radiological spectrum of boys with PUV in our environment. We examined the clinical presentations, ultrasonographic and the micturating cystourethrographic (MCUG) features of boys with PUV in our institution over a 22-month period from June 2006. There were 28 patients with PUV over this period. The age at presentation ranged from 11 days to 11 years (mean age = 2.7 years). Although prenatal ultrasound scan was done in 23 (82.1%) patients, no prenatal diagnosis was made in any of the patients. The diagnosis was made after infancy in 16 (57.1%) patients. Recurrent urinary tract infection (UTI) was the most common mode of presentation occurring in 14 (50.0%) patients with 7 (50.0%) of the patients with UTI presenting with septicaemia. Voiding dysfunctions, which occurred in all the patients, were the primary mode of presentation in 12 (42.9%) patients. Three (10.7%) patients presented with renal insufficiency, which was significantly associated with the age at presentation (P = 0.026). Ultrasound scan done in the postnatal period strongly suggested the diagnosis of posterior urethral valves in 22 (78.6%) patients in whom the posterior urethra was found to be dilated, associated with thick-walled urinary bladder and bilateral hydronephrosis. Trabeculations of the bladder was a constant feature on MCUG. Other features on MCUG included dilatation of the posterior urethra in 26 (92.8%), bladder diverticuli in 15 (53.6%) and unilateral and bilateral vesicoureteric reflux in 3 (10.7%) and 1 (3.6%) patient(s), respectively. The diagnosis of PUV obstruction which is often made late in our environment, is mainly by clinical, sonographic and MCUG features in the postnatal period. A majority of patients present late, with recurrent UTI.

Fetal and neonatal ovarian cysts: is surgery indicated?

To evaluate the frequency of ovarian torsion in neonates with ovarian cysts (OCs) and to analyze the outcome after surgical treatment. A retrospective review of all infants with OCs managed in our institution during 20 years, was conducted. Our management included a follow-up (FU) of prenatal serial ultrasound (US) scan without prenatal cyst aspiration and early postnatal US scan. Neonatal surgery was indicated for cysts that appeared complex regardless of size and for simple cysts larger than 20 mm. Sixty-seven OCs detected through prenatal diagnosis were identified. Cysts were detected at a median gestational age (GA) of 33 weeks. At diagnosis, median size of the OCs was 40 mm, and 18% were complex. On the postnatal US scan, 55% were complex. Neonatal surgery was performed for 64 OCs : 56% were torsed, 6% were hemorrhagic, and 38% were uncomplicated. Proportions of complex- and simple-appearing cysts on prenatal or postnatal US scan were the only significantly different parameters found between infants with torsed or not torsed OC. Our study demonstrated that OC bears a high risk of ovarian loss. These findings have implications regarding information and treatment offered to pregnant women bearing an affected fetus.

Prenatal diagnosis of varix of the fetal intraabdominal umbilical vein: Case report

Varix of intraabdominal part of fetal umbilical vein is during a prenatal ultrasound scan seen as a hypoechogenic mass between anterior abdominal wall and lower edge of liver, and the diagnosis is confirmed when blood flow is seen during color Doppler examination. A case of prenatal diagnosis of this abnormality is presented, with review of contemporary literature regarding diagnosis and management as well as the outcome of such pregnancies.

Upper urinary tract dilatation: Prenatal diagnosis, management and outcome

Upper urinary tract dilatation is one of the most common abnormalities detected on prenatal ultrasound scanning. It is commonly due to transient urine flow impairment (UFI) at the level of the pelvi-ureteric and vesico-ureteric junctions, which improves with time in most cases. It is usually in the neonatal period that the diagnosis is confirmed and during the first 18 months of life that the prognosis of the dilatation is defined.

OC275: Prenatal ultrasound scanning and the risk of schizophrenia and other psychoses

OC275: Prenatal ultrasound scanning and the risk of schizophrenia and other psychoses

OC112: The natural history of monochorionic twins and the role of prenatal ultrasound scan

OC112: The natural history of monochorionic twins and the role of prenatal ultrasound scan

1A-6 Left-handedness in boys at 10 years of age may result from maternal preeclampsia but not from prenatal ultrasound scans

1A-6 Left-handedness in boys at 10 years of age may result from maternal preeclampsia but not from prenatal ultrasound scans

Prenatal Ultrasound Scanning and the Risk of Schizophrenia and Other Psychoses

Prenatal ultrasound exposure has been associated with increased prevalence of left-hand or mixed-hand preference, and has been suggested to affect the normal lateralization of the fetal brain. Atypical lateralization is more common in patients with schizophrenia. We evaluated possible associations of prenatal ultrasound with schizophrenia and other psychoses. We identified a cohort of individuals born in Sweden 1973-1978. During this period, one Swedish hospital (Malmö University Hospital) performed prenatal ultrasound on a routine basis, and all individuals born at that hospital were considered exposed to ultrasound. Children born at hospitals where ultrasound was not used routinely or selectively were considered unexposed. We used Poisson regression analysis to estimate the effect of ultrasound exposure on the incidence of schizophrenia and other psychoses. In all, 370,945 individuals were included in the study, of whom 13,212 were exposed to ultrasound. The exposed group demonstrated a tendency toward a higher risk of schizophrenia (among men, crude incidence rate ratio = 1.58 [95% confidence interval = 0.99-2.51]; among women, 1.26 [0.62-2.55]). However, men and women born in several of the 7 tertiary level hospitals without ultrasound scanning also had higher risks of schizophrenia compared with those born in other hospitals. For other psychoses there were no differences between groups. No clear associations between prenatal ultrasound exposure and schizophrenia or other psychoses were found. Other factors related to place of birth might have influenced the results.

Prenatal diagnosis of tracheo‐oesophageal fistula and oesophageal atresia

To assess the accuracy of the prenatal ultrasound finding of subjectively small/absent stomach bubble in the prenatal diagnosis of tracheo-oesophageal fistula and oesophageal atresia (TOF/OA). A retrospective study of prenatal ultrasound scans showing small/absent stomach bubble was carried out between 1st January 1994 and 31st December 2003. There were 62 cases with prenatally suspected (n = 40) and/or post-natally diagnosed (n = 22) TOF/OA. Among the 40 cases of prenatally suspected TOF/OA 15 were thought to be isolated and 25 non-isolated. Of the 15 suspected isolated cases, 7 were normal and 8 had TOF/OA (5 isolated + 3 TOF/OA with another anomaly) at delivery. Among the 25 cases of prenatally suspected non-isolated TOF/OA, there was confirmation in only two cases, in the remaining 23 cases other anomalies were confirmed but TOF/OA was not present.Twenty-two babies with TOF/OA were identified in whom there had been no prenatal ultrasound suspicion on ultrasound scanning. Six had isolated TOF/OA and 16 had non-isolated TOF/OA. Of the 32 cases of confirmed TOF/OA,10 (31%) were suspected prenatally. If the TOF/OA was an isolated anomaly (11 cases), the prenatal detection rate was 45%. Interpretation of ultrasound findings suspicious of TOF/OA requires caution, particularly, when there are associated multiple anomalies on scan.

Prenatal thrombosis of the inferior vena cava and the renal veins

This manuscript discusses the clinical presentation, diagnosis, pathophysiology and possible etiologies of prenatal thrombosis of the inferior vena cava and renal veins. Eleven cases were identified through a Medline search of the English literature. These cases were reviewed, together with a recent case that was treated in our medical center. Fetal thrombosis in the aforementioned vessels, presented as hydrops fetalis (33%), acute fetal distress (42%), or as an incidental prenatal ultrasound finding (25%). Underlying maternal conditions were present in 58%, and included chronic conditions (hypertension and diabetes mellitus), acute conditions (pyelonephritis and preeclampsia) and thrombophilia. In 42% cases, the prenatal ultrasound scan revealed an enlarged and hyper-echogenic affected kidney. Intrauterine fetal venous thrombosis is a rare phenomenon, probably attributed to a multifactorial process. These factors may include inherited thrombophilia as well as prothrombotic clinical conditions.

Prenatal Sonographic Prediction of Twin Growth Discordance

AbstractOur aim was to evaluate the ability of prenatal ultrasound scans to predict fetal growth discordance, and to examine the correlation between fetal weight estimated by ultrasound with actual birthweight in twin pregnancies. The study consisted of 221 twin pregnancies with ultrasound fetal weight estimates based on Hadlock's 4 parameter formula. Prediction of intertwin birthweight discordance was examined at 4 different intervals between ultrasound examination and delivery (0–7 days, n = 96; 8–14 days, n = 66; 15–21 days, n = 58; 22–28 days, n = 59 pregnancies), with a total of 279 ultrasound examinations. Birthweight discordance was considered as a difference of 20% or greater. The correlation between fetal weight estimated between 0 and 7 days and actual birthweight was calculated by intraclass correlation coefficient. The predictive values for intertwin discordance of 20% or more in the 0 to 7 days group were: sensitivity = 93.6%, specificity = 79.4%, positive predictive value = 89.2%, negative predictive value = 87.1% and accuracy = 88.6%. In the groups with scans carried out between 8 and 14 days, 15 and 21 days, and 22 and 28 days, the sensitivity and accuracy values were 95.8% and 84.9%, 95.6% and 84.5%, 90.9% and 84.8%, respectively. Fetal growth discordance in twins can be accurately predicted by ultrasound examination performed up to 28 days before birth. There is a good correlation between fetal weight estimated between 0 and 7 days and actual birthweight.

Ciliated hepatic foregut cyst

A male infant was found to have a large congenital hepatic cyst, first noted in late gestation by prenatal ultrasound scan. The cyst communicated with the biliary tree and was eventually removed completely by an extended right hepatectomy. Histopathologic examination showed a thick-walled, unilocular cyst lined predominantly by ciliated, stratified squamous epithelium with an outer wall composed of smooth muscle cells and fibrous tissue. These features are diagnostic of a ciliated hepatic foregut cyst, a rare congenital malformation with histologic similarities to bronchogenic cysts. The young age of our patient, prenatal detection, large size of the cyst, and a clear communication with the biliary tree have not been previously described with ciliated hepatic foregut cysts.

Prenatal detection of heart defects in a non‐selected population of 30 149 fetuses—detection rates and outcome

To evaluate the detection rate of congenital heart defects (CHD) in a non-selected population and to follow outcome after diagnosis. All 30,149 fetuses/newborns that were scheduled to deliver at our hospital between February 1991 and December 2001 were registered prospectively. Of these, 29,460 (98%) fetuses had a prenatal ultrasound scan at our center. The routine fetal examination at approximately 18 weeks' gestation included the four-chamber view and the great arteries of the fetal heart. The follow-up period was 2-13 years. Of 97 major CHDs, 55 (57%) were detected prenatally, 16% (9/55) prior to, 66% (36/55) at and 18% (10/55) after the routine scan. Forty-four percent (19/43) of the isolated CHDs, 67% (36/54) of those with associated malformations and 48% (11/23) of the isolated ductal-dependent CHDs were detected. Thirty-eight percent (37/97) had an abnormal karyotype. Of the 55 major CHDs detected, 44% (24) of the pregnancies with lethal/serious fetal malformations were terminated, 15% (8) died in utero, 42% (23) were born alive and 27% (15) were still alive after 2 years. Of the 42 CHDs detected postnatally, 2% (1) were terminated for other reasons, 98% (41) were born alive and 81% (34) were still alive after 2 years. Prenatal detection of CHD is still a challenge, with a 57% detection rate only. Isolated defects are detected less frequently. The overall outcome suggests that the most severe defects are detected with the present screening setting; only 27% of the babies with major CHDs detected were still alive after 2 years. Data from long-term follow-up will be of importance for the counseling process.

Prenatal sonographic diagnosis of Malpuech syndrome

Malpuech syndrome (MS) is a rare autosomal recessive syndrome featuring pre- and post-natal growth deficiency, mental retardation, facial dysmorphism, cleft lip and palate (typically midline or bilateral), caudal appendage, renal malformations and male genital abnormalities. A prenatal diagnosis of MS was made in this fetus based on the family history and a combination of conventional and 3D prenatal ultrasound findings. The family were consanguineous with an affected first child. Prenatal ultrasound in the second pregnancy demonstrated bilateral cleft lip and palate in association with intrauterine growth retardation on serial prenatal ultrasound scans. Dysmorphic facial features and a small penis consistent with the diagnosis were confirmed on 3D scanning. Post-natal examination of the neonate confirmed the diagnosis of MS. To the best of our knowledge, this is the first prenatal diagnosis of this syndrome.

Placental mesenchymal dysplasia associated with fetal aneuploidy

To describe three cases of placental mesenchymal dysplasia (PMD) associated with abnormal karyotype and review the cases reported in the literature. The cases were retrieved from the files of three different institutions. A search of the English language literature was performed using Medline database. Placental abnormalities suggestive of molar changes were seen on the prenatal ultrasound scans. Histologically, the cases had large, hydropic stem villi with myxomatous stroma, cistern formation and 'chorangiomatoid' changes. The placental and fetal karyotypes identified were trisomy 13 (47,XX,t(1:13)(q32;q32)+ 13); Klinefelter syndrome (47,XXY) and triploidy (69,XXX). Including these 3 cases, of 66 reported cases, 51 (78%) were female and 14 (22%) male (ratio 3.6:1); the karyotype was normal in 32/36 (89%) and abnormal in 4/36 (11%); Beckwith-Wiedemann syndrome was confirmed or suspected in 15/66 (23%). Excluding termination of pregnancies, intrauterine death occurred in 18/54 (33%) cases. Molar ultrasonographic appearances associated with increased maternal serum alpha-fetoprotein but normal, or slightly elevated, levels of ss human Chorionic Gonadotrophin should raise the clinical suspicion of PMD. The diagnosis of this condition should not be disregarded when an abnormal fetus and/or an abnormal karyotype are demonstrated.

Prenatal Detection of Congenital Renal Malformations by Fetal Ultrasonographic Examination: An Analysis of 709,030 Births in 12 European Countries

The study was performed to evaluate the prevalence of prenatal ultrasound diagnoses for renal anomalies in 20 registries of 12 European countries, and to compare the different prenatal scanning policies. Standardized data were acquired from 709,030 livebirths, stillbirths, and induced abortions during the study period of 2.5 years and transmitted for central analysis. At least one renal malformation was diagnosed in 1130 infants and fetuses. Prenatal diagnosis (PD) was given in 81.8% of all cases, 29% of these pregnancies were terminated. The highest detection rate was reported for unilateral multicystic dysplastic kidneys with 97% (102/105). An early diagnosis was documented for exstrophy of bladder at a mean gestational age of 18.5 weeks. Dilatations of the upper urinary tract were seen late in pregnancy at 28.3 weeks. Terminations of pregnancies (TOP) were performed in 67% (58/86) of the detected bilateral renal agenesis/dysgenesis, but only 4% of the unilateral multicystic dysplastic renal malformations (4/102). In about 1/3 of the cases, renal malformations are within the category of associated malformations, which include multiple non-syndromal malformations, chromosomal aberrations, and non-chromosomal syndromes. Renal malformations were detected in 2/3 of the associated category by the first prenatal ultrasound scan. Detection rates vary in the different countries of the European community due to diverse policies, ethical, and religious background. Countries with no routine ultrasound show the lowest rates in detection, and termination of pregnancy. Prenatally detected renal malformations should result in a careful examination for further anomalies. Prenatal ultrasound fulfills the needs of screening examinations and is a good tool in detecting lethal and severe renal malformations.

Prenatal ultrasound findings of lissencephaly associated with Miller–Dieker syndrome and comparison with pre‐ and postnatal magnetic resonance imaging

To report on the prenatal ultrasound findings in fetuses with lissencephaly associated with Miller-Dieker syndrome (MDS) and to compare these findings with those of magnetic resonance imaging (MRI). Cases of MDS confirmed by postnatal chromosome microdeletion analysis were identified through review of patient records. Prenatal ultrasound scans were reviewed retrospectively by two radiologists. For cerebral cortical development, the Sylvian, parieto-occipital and calcarine fissures, and the cingulate sulcus and sulci over the cerebral convexity were evaluated. If one or more of these fissures or sulci were not visualized at the expected gestational age or their appearance was abnormal for gestational age, cortical development was considered delayed. Prenatal and postnatal MRI examinations were reviewed by a pediatric neuroradiologist. There were seven cases of MDS. In three cases, the prenatal diagnosis of agyria/lissencephaly was prospectively suspected by ultrasound at 23, 26 and 30 weeks, and subsequently confirmed by prenatal MRI. When we retrospectively reviewed the prenatal ultrasound scans of all fetuses, all had delayed cortical development identified on ultrasound performed after 23 weeks' gestation. In all cases the Sylvian fissure was abnormal on both ultrasound and MRI. In one fetus, a normal cortical appearance for gestational age was seen at the initial 20-week ultrasound examination, but delayed cortical development was identified at a 24-week scan. Mild ventriculomegaly was seen in six fetuses and dysgenesis of the corpus callosum in one. Extracranial abnormalities were detected in five fetuses. Delayed cortical development was seen in two fetuses with mild ventriculomegaly, but no other fetal anomalies. In fetuses with MDS, delayed cortical development can be suspected on ultrasound as early as 23 weeks' gestation. This finding warrants further investigations including MRI and FISH analysis for chromosome 17p13.3 deletion.

Differenzialdiagnose des Polyhydramnions beim Hyperprostaglandin-E-Syndrom: Case-Report

A polyhydramnion is diagnosed in 0.4 to 3.3 % of all pregnancies. The most common causes of increased amniotic fluid include maternal diabetes mellitus, fetal malformations and chromosomal aberrations, twin-to-twin transfusion syndrome, rhesus incompatibility syndrome, and congenital infections. After exclusion of other etiologies for polyhydramnion, the very rare, autosomal-recessive transferred hyperprostaglandin E syndrome (HPS) has to be considered. We report on a 31-year-old women who visited our obstetrical outpatient clinics at 22 + 4 weeks of gestation for prenatal ultrasound scanning and amniocentesis. This, the patient's third pregnancy had been without complications so far. She had delivered two children before, one of them bearing the HPS. The women herself suffered from epilepsy. At 26 + 0 weeks of gestation the pregnancy was complicated by a polyhydramnion requiring serial amniocentesis for reducing amniotic fluid load. Among others, her amniotic fluid was analyzed for chloride concentration and for genetic aberrations regarding HPS. Serological investigations and an oral glucose tolerance test (oGTT) were performed. Amniocentesis revealed a normal chromosomal pattern. The oGTT demonstrated values in the normal range. Serological investigations regarding TORCH infections were without pathological findings. The chloride concentration was highly increased in the amniotic fluid, which is suspicious for HPS. Finally, molecular analysis proved an NKCC2-mutation responsible for HPS. A cesarean section was performed at 33 + 3 weeks of gestation. If HPS is suspected to be the cause of polyhydramnions, the chloride concentrations in the amniotic fluid and molecular analysis for HPS should be performed. Interdisciplinary care, diagnostics and therapy in an experienced perinatal center are essential for an optimal outcome of the pregnancy and the newborn infant.

Effects of repeated prenatal ultrasound examinations on childhood outcome up to 8 years of age: follow-up of a randomised controlled trial

Despite the widespread use of prenatal ultrasound studies, there are no published data from randomised controlled trials describing childhood outcomes that might be influenced by repeated ultrasound exposures. We previously undertook a randomised controlled trial to assess the effects of multiple studies on pregnancy and childhood outcomes and reported that those pregnancies allocated to receive multiple examinations had an unexplained and significant increase in the proportion of growth restricted newborns. Our aim was to investigate the possible effects of multiple prenatal ultrasound scans on growth and development in childhood. Here, we provide follow-up data of the childrens' development. Physical and developmental assessments were done on children whose pregnant mothers had been allocated at random to a protocol of five studies of ultrasound imaging and umbilical artery Doppler flow velocity waveform between 18 and 38 weeks' gestation (intensive group n=1490) or a single imaging study at 18 weeks' gestation (regular group n=1477). We used generalised logistic and linear regression models to assess the group differences in developmental and growth outcomes over time. Primary data analysis was done by intention-to-treat. Examinations were done at 1, 2, 3, 5, and 8 years of age on children born without congenital abnormalities and from singleton pregnancies (intensive group n=1362, regular group n=1352). The follow-up rate at 1 year was 85% (2310/2714) and at 8 years was 75% (2042/2714). By 1 year of age and thereafter, physical sizes were similar in the two groups. There were no significant differences indicating deleterious effects of multiple ultrasound studies at any age as measured by standard tests of childhood speech, language, behaviour, and neurological development. Exposure to multiple prenatal ultrasound examinations from 18 weeks' gestation onwards might be associated with a small effect on fetal growth but is followed in childhood by growth and measures of developmental outcome similar to those in children who had received a single prenatal scan.