Imaging in fetal genital anomalies.

Genital anomalies are a heterogeneous group of congenital pathologies that have become increasingly relevant since the Chicago Consensus of 2005. Their postnatal diagnosis has developed significantly in the last two decades, while prenatal diagnosis seems to be underdeveloped, with few protocols available, fragmented scientific literature, and low diagnostic rates. This review aims to examine the current status of this subspecialty from the perspective of prenatal imaging. Indications for the evaluation of fetal genitalia can be divided into medical and non-medical reasons. Medical reasons include sex-linked disorders, detection of other anomalies, relevant family history, or multiple pregnancy. Non-medical reasons include parental request for sex disclosure. Disclosure of fetal sex may be associated with ethical, legal, and medical issues. The main imaging technology used is 2D ultrasound, although there are other complementary techniques such as 3D, MRI, or Color Doppler. Regarding working methodology, several authors have drawn attention to the lack of standardized protocols and guidelines. Most guidelines tend to limit their recommendations to study indications and ethical issues. Technical proposals, measurements, or working methods have not yet been standardized. Fetal sex determination is usually divided into early and late gestation. Early gestation is based on the sagittal sign. Late gestation is based on direct visualization. There are several measurements to describe male and female genitalia, such as penile length, bilabial diameter, or scrotal diameter. Prenatal diagnosis of genital pathologies presents some particularities such as the wide spectrum of phenotypes, the high frequency of associated deformities, or the time of diagnosis. Some of the most frequent pathologies are ambiguous genitalia, fetal sex discordance, hypospadias, micropenis, clitoromegaly, ovarian cysts, hydro(metro)colpos, and cloacal anomalies. Higher-quality studies and direction from scientific societies through the implementation of clinical guidelines are needed.

Open-legs axial plane: A standardized methodology and reference values for fetal genital biometry in mid-trimester ultrasound.

BACKGROUND: Evaluation of the external genitalia is an important part of prenatal ultrasound. However, there is no standardized methodology that includes biometric measurements and normative data to be able to carry out this evaluation. OBJECTIVE: To develop a standardized methodology for fetal genital biometry and obtain reference values for use in mid-trimester ultrasound. STUDY DESIGN: A prospective cross-sectional study was used. 273 male and 253 female fetuses of normal, singleton pregnancies at 18 to 22 weeks were included. Measurements of fetal penis length, penile width and transverse scrotal diameter in male fetuses and bilabial diameter in female fetuses were performed by transabdominal ultrasound. Reference values were calculated for each gestational week. RESULTS: Realization of the open-legs axial plane is described as a working methodology. Normative data for penile length, penile width, transverse scrotal diameter and bilabial diameter are defined, including mean, minimum and maximum values, range, and 5th, 10th, 90th and 95th percentiles. CONCLUSIONS: We have provided a standardized methodology using the open-legs axial plane, which would integrate the main measurements. In addition with the normative data constructed from their use, we hope to be able to improve the external genitalia assessment and diagnosis of genital anomalies in mid-trimester ultrasound.

Síndrome de varicela congénita / Congenital varicella syndrome

Se estima que la transmisión vertical del virus de la varicela ocurre entre un 8 y un 25% de los casos. De estos, solo en un 1-2% de las ocasiones se producirá el síndrome de varicela congénita (SVC), sobre todo si la infección ocurre entre las semanas 12-20 de gestación. La detección del DNA del virus en líquido amniótico, junto con la presencia de marcadores ecográficos de afectación fetal, hacen el diagnóstico altamente probable. Presentamos el caso de una tercigesta que en la semana 14.ª de gestación contrajo varicela, ocurriendo afectación fetal (calcificaciones hepáticas y miocárdicas en ecografía) y muerte del neonato al mes de vida. Actualmente, la inmunización pasiva representa la única estrategia activa para prevenir las graves consecuencias del SVC si una gestante no inmune se expone al VVZ antes de la semana 20 de gestación, ya que, tanto el uso de antivirales como profilaxis o como tratamiento como el uso de inmunoglobulina anti VVZ tras un contacto, no han mostrado resultados concluyentes. Por todo esto, consideramos capital la correcta información a los padres y el adecuado control de este tipo de gestaciones (AU)

Vertical transmission of the varicella virus is estimated to occur in 8% to 25% of cases. Among these, congenital varicella syndrome develops in only 1% or 2% of transmissions, especially if the infection occurs between weeks 12 and 20 of pregnancy. The detection of DNA from the virus in the amniotic fluid, combined with the presence of ultrasonographic markers of fetal involvement, leads to a highly likely diagnosis. We present the case of a gravida 3 who contracted varicella at week 14 of gestation, with fetal involvement (hepatic and myocardial calcifications detected on ultrasonography) and newborn death at 1 month of life. Currently, passive immunization is the only active strategy to prevent the serious consequences of congenital varicella syndrome if a non-immune pregnant woman is exposed to the varicella zoster virus before week 20 of pregnancy, since neither the use of antiviral prophylaxis or treatment, nor the use of anti-varicella zoster virus immunoglobulin have been proved to give significant results. Thus, it is of the utmost importance to provide information to parents and adequate management of this type of pregnancy (AU)

Cribado universal del hipotiroidismo en la gestación. Comentarios al Protocolo SEGO 2013 / Universal screening of hypothyroidism in pregnancy. Comments on the protocol of the Spanish Society of Obstetrics and Gynecology 2013

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