Use of three‐dimensional ultrasonography for prenatal diagnosis of ambiguous genitalia.

Abstract

ex identification is one of the prime expectations of any parent during the prenatal ultrasound examination. However, the ability to visualize fetal genitalia not only has important social implications but also has considerable medical implications. Various endocrine disorders and complex genitourinary malformations can be manifested in the form of anomalous genitalia, and a delay in diagnosis may lead to an increase in postnatal morbidity and mortality.1 In addition, correctly identifying and illustrating major fetal anomalies is of paramount importance to the parents, whose decisions regarding possible termination will directly affect the course of the pregnancy. Prenatal detection of genital abnormalities is therefore helpful in evaluating those fetuses with severe multisystem diseases and those with disorders more easily corrected with prenatal and neonatal treatments.Ambiguous genitalia is a condition that affects approximately 1 per 5000 live-born infants. Until the inception of three-dimensional (3D) ultrasonography, two-dimensional (2D) ultrasonography was the only method available to visually detect cases of ambiguous genitalia. A review of the literature reveals several case reports and small case series of prenatal identification of abnormal fetal genitalia during targeted 2D ultrasonographic surveys. However, the limitations of a standard 2D fetal sonogram are often evident. We present a case of ambiguous fetal genitalia whose diagnosis was both correctly identified and visually clarified by the use of prenatal 3D ultrasonography.

Prenatal diagnosis, sonographic findings and molecular genetic analysis of a 46,XX/46,XY true hermaphrodite chimera

“…Cheikhelard et al (2000) reported an accuracy of 100% in male and 46% in female fetuses in the prenatal diagnosis of abnormal genitalia. Currently, 3D ultrasound has become a useful tool for evaluation of ambiguous genitalia (Naylor et al, 2001).…”

Is 3‐Dimensional Sonography Useful in the Prenatal Diagnosis of Ambiguous Genitalia?

“…However, Cafici and Iglesias 5 concluded that 3D sonography does not facilitate the diagnosis in cases of hypospadius, but it does aid in explaining the findings to the family. Naylor et al 4 concluded that 3D sonography "both correctly identified and visually clarified" the diagnosis in a case of ambiguous genitalia; however, in both of these previous cases, the fetal karyotype was known to be 46,XY before the sonographic evaluation. Most recently, a study by Verwoerd-Dikkeboom et al 6 reported that 3D sonography was incorrect in diagnosing 2 of 3 cases of ambiguous genitalia.…”

Prenatal gender determination and the diagnosis of genital anomalies

“…These techniques are particularly useful for examining subtle external features in fetuses at risk of anomalies or in fetuses found to have a congenital malformation. As this is such a new technique there is relatively little published describing the applications in terms of diagnosis of ambiguous genitalia [50]. The 3‐dimensional appearance of normal male development at 16 and 23 weeks of gestation is shown in Fig.…”