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To present our experience of applying three-dimensional ultrasonography in prenatal diagnosis of hypospadia.
A 28-year-old woman, gravida 1, para 0, visited our hospital at 17 weeks' gestation. No gross anomaly was found on the scan at 21 weeks' gestation. Fetal growth was appropriate for gestational age on two-dimensional (2D) ultrasonography at 2...
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Background: Fetal ventriculomegaly is the most sensitive sonographic sign for central nervous system anomalies. Neonatal morbidity and mortality depends on the etiology of the ventriculomegaly and the presence of other malformations. Isolated non-progressive ventriculomegaly is associated with 70% favorable results, with a great disparity among stu...
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... En cuanto a otras técnicas de imagen que se pueden utilizar, se mencionan en la literatura la ecografía 3D y la resonancia magnética (RM) [23][24][25][26] . La evaluación de Figura 3. Imágenes ecográficas prenatales bidimensionales (2D) y tridimensionales (3D) mostrando los hallazgos frecuentes en fetos con hipospadias. ...
Hypospadias refers to the abnormal location of the meatus; it is the most common genital malformation detected in the fetus and newborn. Prenatal diagnosis is feasible from 20 weeks onwards with routine ultrasound; however, it is easier to diagnose during the third trimester of pregnancy. Mild defects are usually isolated, familiar o related to placental disfunction or intrauterine growth restriction, while the severe hypospadias are associated to other fetal defects, genetic or chromosomal abnormalities or disorders of sex development. In about 30% of cases. The triad of ultrasound findings prenatally is ventral curvature of the penis, redundant dorsal foreskin and blunt distal penis. The identification of the urethra during the micturition and the direction of the urinary stream help in the classification of the defect. When severe hypospadias is detected, the recommendation is to perform genetic amniocentesis and search for other ultrasound findings related to poor virilization in the fetus, as testicular descent after 27 weeks of gestation. Postnatal follow up should be multidisciplinary including infantile urologist and endocrinologist. The prognosis in distal hypospadias is usually good following surgical repair, however in severe cases surgical interventions may be more challenging in order to obtain satisfactory outcome in terms of function and esthetic.
... Meizner 7 et al. described the" tulip sign" as an US clue for the in utero diagnosis of severe hypospadias and the tulip was formed by a ventrally orientated penis located between the scrotal fold. Other studies have suggested that 3DUS may provide a systemic evaluation of the external genitalia and contribute to prenatal diagnosis of hypospadias by providing more detailed and realistic images [2][3][4][5] . However, most of these were described in case reports, and to our knowledge no studies have compared the diagnostic efficiency between 2DUS and 3DUS. ...
To compare the prenatal diagnostic performance as well as appearance of ultrasonic details between 2-dimensional ultrasonography (2DUS) combined with 3-dimensional ultrasonography (3DUS) and 2DUS alone for hypospadias. A total of 47 fetuses were enrolled and examined by 2DUS and then 3DUS. Postnatal follow-up data were obtained and 28 cases were confirmed of hypospadias. Although not statistically significant, there was a trend toward higher AUC (0.85 vs. 0.76; p = 0.08), ACC (85.1 vs. 76.6%; p = 0.22), SEN (85.7 vs. 78.6%; p = 0.63), and SPE (84.2 vs. 73.7%; p = 0.50) for 2DUS combined with 3DUS compared with 2DUS alone. The agreement between both methods was moderate [kappa = 0.592]. Both modalities showed accurately the short penis and blunt tip of the penis. 2DUS in combination with 3DUS showed more cases in other detailed features, such as “chordee”, a “hooded” incomplete prepuce, and so on. Overall 2DUS combined with 3DUS showed a trend toward higher performance compared with 2DUS alone for the diagnosis of hypospadias, although the difference was not statistically significant. 3DUS is a useful complement for 2DUS in the diagnosis of fetal hypospadias and may provide more detailed information related to its diagnosis and prognosis.
... It is the most common congenital defect of the male external genitalia, with a prevalence of approximately 0.2 to 4.1 per 1.000 live births. [1][2][3][4] Despite hypospadias being the most common urogenital anomaly of male neonates, the diagnosis is often missed prior to birth. ...
... Because there is improved visualization of the external genitalia at the third trimester, the prenatal diagnosis of hypospadias is not usually made until then. [2][3][4][5][6][7] Here, we report a successful case of the prenatal diagnosis of a penoscrotal hypospadia in the early second trimester of pregnancy. ...
... The cause of hypospadias is most likely a combination of monogenic and multifactorial forms, involving both genetic and environmental factors. [1][2][3][4][5][6][7] In addition to the determination of fetal sex, the detection of external genitalia anomalies has become an integral component of second trimester anomaly scans. The conventional sonographic criteria for the diagnosis of hypospadia is a small, "blunt-ended" penis with two echogenic lines at the tip, which represent the prepuce lateral folds. ...
Urinary tract abnormalities are frequently detected during obstetrical ultrasonography (US). However, hypospadia is often missed on prenatal US, despite it being the most common congenital defect of the male external genitalia. The prenatal recognition of hypospadias is important because it will alert the physician to order karyotyping and to look for any possible associated dysmorphic syndromes. Here, we present a case of a penoscrotal hypospadia mimicking female genitalia and describe our experience of applying two-dimensional and three-dimensional US in the prenatal diagnosis of hypospadia. Prenatal ultrasound scans should include a study of the genitals and should not only be used for sex determination.
... The three-dimensional ultrasonography (3DUS) allows, in rendering mode, a detailed assessment of the fetal surface, allowing diagnosis often difficult using two-dimensional ultrasonography (2DUS). In relation to prenatal diagnosis of penoscrotal hypospadias, there are only three reports using 3DUS [4][5][6]. ...
... The introduction of 3DUS allowed the evaluation of the surface structures of the fetus in rendering mode, enabling the development of a new imaging method for evaluation of hypospadias [4][5][6]. Fang et al. [5] described a case report of prenatal diagnosis of hypospadia in the 27th week of pregnancy, in which 3DUS rendering mode allowed a better evaluation of hypospadia. They suggest the use of 3DUS in cases of reduced penis length or altered form analyzed with 2DUS. ...
... The introduction of 3DUS allowed the evaluation of the surface structures of the fetus in rendering mode, enabling the development of a new imaging method for evaluation of hypospadias [4][5][6]. Fang et al. [5] described a case report of prenatal diagnosis of hypospadia in the 27th week of pregnancy, in which 3DUS rendering mode allowed a better evaluation of hypospadia. They suggest the use of 3DUS in cases of reduced penis length or altered form analyzed with 2DUS. ...
Hypospadia is an abnormal development of the corpus spongiosum, that involves cavernosa urethra, as a result of an inadequate fusion of the urethral folds. The incidence ranges from 0.2 to 4.1 per 1,000 live births. Among the markers of hypospadia, isolated ventral or lateral curvature of the penis associated with shortening are the most important markers and, in severe cases, can result in the classic "tulip sign." The diagnosis of hypospadia is uncommon unless there is a routine of detailed analysis of fetal genitalia morphology. The prenatal diagnosis is of great importance for genetic counseling and allows better planning of postnatal treatment. The three-dimensional ultrasonography (3DUS) in rendering mode enables better comprehension of the pathology by parents, facilitating postnatal planning. We report a case of penoscrotal hypospadia diagnosed at 33 weeks of gestation, suspected due to the absence of testicles in the scrotum and difficulty of penis visualization. We emphasize the findings of 3DUS and its importance in the pathology compression by parents.
... Smulian et al. [19] concluded 135 that an accurate family history is an essential part of the evaluation of the milder degrees of fetal hypospadias. An ultrasound 2D diagnostic cluster of hypospadias has been clearly defined by Devesa et al. [8] and must rely on the following: anomalous distal morphology of the penis, small lateral folds, small penis with ventral incurving, and anomalous urinary stream, while the most recently introduced sign by means of a 140 three-dimensional ultrasound is the "tulip" sign [20,21]. Lin et al. [22] also reported on a rare variant form of hypospadias diagnosed at week 21's gestation in which the penis and scrotum appeared normal but there was a cyst-like lesion and a urethrocutaneous fistula on the ventral side of the penis. ...
Acrania may occur as a single isolated malformation or associated with extracranial defects. Hypospadias is one of the most common congenital abnormalities of the genitalia frequently missed on prenatal sonograms. Second trimester two- and three-dimensional ultrasound and MRI diagnosis with necropsy and folate metabolism pathway analysis. The mechanisms leading to closure of both neural and urethral tubes, are far from being demonstrated, and molecular studies of this very rare association are lacking although it might be based on a common genetic mechanism, leading to a disturbed development pathway at the molecular level.
... 3 Moreover, sometimes fusion of vulvar/scrotal folds can be delayed, leading to confusion or misdiagnosis. 4 Sonographic markers for prenatal diagnosis include: 1 • Blunter and bulbous tip of the distal part of the penile shaft rather than the normal pointed morphology • Penile duct anomaly short or small • Shaft morphology of the distal part of the penis with severe ventral curvature which results from a fibrous band, the chordee, occurring in the projected course of the urethra • Observation of small lateral folds, epithelial remnants of the foreskin 3 and the presence of an abnormal urine stream 1,6 • The tulip sign 1 • Using TUI mode focusing on the ventral zone of the penis, the urethral opening and its extension can be seen. 2D US scan is the first-line method for diagnostic suspicion. ...
We report a case of anterior hypospadias, diagnosed at 26th week in a 37 years-old primigravida with normal 46XY kariotype through amniocentesis carried out at 16th week.
Sonographic examination with 2D showed a short and curved penis. The use of three orthogonal planes, Tomographic Ultrasound Image (TUI) and VOCAL allowed an exact prenatal diagnostic, showing the “tulip” sign and defining localization, situation and extension of the urethral orifice.
Invent of 3D and 4D ultrasound has made a dramatic improvement in fetal imaging. Various viewing directions and rendering modes help better demonstration of pathologies suspected on 2D US. Multiplanar mode is the key of the 3D US imaging. Software like magicut and TUI help to understand the anatomy better. Volume ultrasound is an excellent tool for diagnosis of facial defects, spinal abnormalities, limb abnormalities, etc. 4D US shows fetal movements and expressions that are basis for the neurodevelopment of the fetus. STIC and VCAD are the tools that have made detection of fetal cardiac anomalies more precise.
There are few 3D well-documented studies about thoraco- abdominal malformations, except for the evaluation of fetal lung volume. Three-dimensional ultrasound provides additional diagnostic information for the evaluation of fetal thorax both for the diagnosis of skeletal anomalies and the biometric measurements of lungs.
3D adds few information about the diagnosis of gastrointestinal malformations, but 3D images are an effective tool to make a careful advice with parents and pediatric surgeons, especially in fetuses with anterior wall defects.
Until now its use must be reserved in a research setting and offered to high-risk patients in order to understand which role 3D may play in the study of thoraco-abdominal malformations as a screening or diagnostic tool.
We present the prenatal two- and three-dimensional (3D) ultrasound (US) findings in two cases of severe penoscrotal hypospadias. 3D sonography was used for better definition of ambiguous genitalia. The images were compared with postnatal clinical features. Despite hypospadias being the most common urogenital anomaly of male neonates, the diagnosis is often missed before birth. Performing prenatal ultrasound should include the study of genitals, not only determining the sex. (C) 2011 Wiley Periodicals, Inc. J Clin Ultrasound 39: 539-543, 2011; Published online in Wiley Online Library (wileyonlinelibrary. com). DOI: 10.1002/jcu.20832
