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.

Stretched penile length at birth: a systematic review.

BACKGROUND: Micropenis is an endocrinological condition that is habitually observed at birth. Diagnosis is made by measuring the stretched penile length, a method established 80 years ago. Discrepancies in the normative data from recent studies raise the need for a current revision of the methodology. OBJECTIVES: The aims of this systematic review were to compare the different normative data of SPL at birth, to examine the methodological aspects of the technique and to evaluate the independent variables that may be involved. METHODS: Searches were performed using MEDLINE, EMBASE, Scielo, the Cochrane Library and Web of Science. A combination of the relevant medical terms, keywords and word variants for "stretched penile length", "penile length", "penile size", "newborn" and "birth" were used. Eligibility criteria included normative studies that used the stretched penile length (SPL) measurement on a population of healthy, full-term newborns during the first month of life. The outcomes studied included characteristics of the studies, methodological aspects and independent variables. RESULTS: We identified 49 studies comprising 21,399 children. Significant discrepancies are observed between the different studies. Methodological aspects seem to be consistent and similar. The main independent variables appear to be ethnic group and gestational age. Main limitations were the absence of studies of entire world regions such as Europe or South America, and the heterogeneity of the ethnic background that complicates the analysis. CONCLUSIONS: It seems advisable to suggest the creation of customized reference charts for each specific population instead of resorting to the classic cut-off points.

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.

D-dimer during pregnancy: establishing trimester-specific reference intervals.

Pregnancy is associated with an increased risk of venous thromboembolism (VTE). D-dimer is a biomarker used as an exclusion criterion of VTE disease, but its usefulness during pregnancy shows limitations because D-dimer levels physiologically increase through pregnancy. The aim of our study was to follow the changes of D-dimer levels and to establish trimester-specific reference intervals during normal pregnancy. This is a longitudinal prospective study in which the reference population finally included 102 healthy pregnant women. Plasma D-dimer levels were measured during the three trimesters of pregnancy, using a latex-based immunoturbidimetric assay. Reference intervals were calculated according to the Clinical and Laboratory Standards Institute recommendations. D-dimer levels increased progressively and significantly through pregnancy and peaked in the third trimester, in which D-dimer levels were above the conventional cut-off point (500 µg/L) in 99% of pregnant women. The following reference intervals were defined: first trimester: 169-1202 µg/L, second trimester: 393-3258 µg/L and third trimester: 551-3333 µg/L. The study provides reference intervals of D-dimer during the pregnancy using latex-based immunoturbidimetry on the ACL 300 TOP automated coagulation analyser. Further prospective studies of pregnant women with clinical suspicion of VTE are needed to validate these results.

Perinatal and obstetric outcomes in older pregnant women / Gestantes de edad avanzada y resultados obstétricos y perinatales

Introduction: Maternity is being postponed to a more advanced age for sociocultural, occupational, and economic reasons. This phenomenon, which has become more common in the last 2 decades, means that the typical pregnant woman has changed. Pregnancy at the extremes of reproductive life is considered a risk factor owing to the greater likelihood of perinatal conditions. However, literature data on maternal and perinatal adverse events in pregnant women are contradictory. The objective of our study was to determine whether older pregnant women present a higher rate of obstetric and perinatal adverse outcomes than younger pregnant women. Material and methods: We conducted a retrospective cohort study. The study population consisted of patients from Health Area II of the Region of Murcia whose pregnancy and delivery were monitored in 2016 at University Hospital Santa Lucía. We divided patients into 2 groups: a group comprising pregnant women aged 40 to 45 years and a control group comprising pregnant women aged 30 to 35 years, who fulfilled the inclusion criteria and none of the exclusion criteria. We collected data from the predictive variables of the clinical history and data from the variables also resulting from the clinical history and the partograph. The statistical analysis was performed using SPSS. Results: We obtained a sample of 468 patients, with 234 patients in each group. The mean (SD) age of the cases was 41.59 (1.37), and that of the control group 32.81 (1.33). The risk of presenting adverse effects in the older group with respect to the control group was as follows: uterine bleeding (OR, 13.70), gestational diabetes (OR, 2.56), preterm birth (OR, 2.22), and admission to the neonatal ICU, 2.02). The risk of cesarean delivery and intrauterine growth retardation was higher in the older patients, although this association was not statistically significant. One woman died in the older group. No cases of neonatal mortality were recorded in either group. Conclusions: Advanced maternal age is a risk factor for major medical and obstetrical complications such as preterm birth, gestational diabetes, admission of newborn infants to the neonatal ICU, and uterine bleeding during childbirth

Introducción: actualmente la maternidad se está posponiendo a edades más avanzadas debido a motivos socioculturales, laborales y económicos. Este fenómeno, que se aprecia de forma más acentuada en las últimas dos décadas, hace que el prototipo de gestante actual haya variado. El embarazo en los extremos de la vida reproductiva es considerado como factor de riesgo por el aumento de la patología perinatal que se presenta, pero en la bibliografía hay resultados contradictorios sobre los eventos adversos maternos y perinatales en las gestantes de edad avanzada. El objetivo de nuestro estudio es comparar si este grupo de gestantes presenta mayor tasa de resultados adversos obstétricos y perinatales que la población gestante de menor edad. Material y métodos: hemos llevado a cabo un estudio de cohortes retrospectivo. La población de estudio la forman las pacientes del Área II de Salud de la Región de Murcia, que acudieron para control de gestación y parto en el año 2016 en el Hospital Universitario Santa Lucía. Hemos realizado dos grupos: grupo de casos con gestantes de 40 a 45 años, y grupo control con gestantes de 30 a 35 años, que cumplían criterios de inclusión y no de exclusión. Hemos recogido los datos de las variables predictoras de la historia clínica y los datos de las variables resultado también de la historia clínica y del partograma. El análisis estadístico se realizó mediante SPSS. Resultados: se obtuvo una muestra de 468 pacientes, 234 por cada grupo. La edad media de los casos fue 41,59 ± 1,37 y la del grupo control 32,81 ± 1,33. El riesgo de presentar efectos adversos del grupo de gestantes de edad materna avanzada con respecto al control fue de: hemorragias uterinas (OR: 13,70), diabetes gestacional (OR: 2,56), prematuridad (OR: 2,22), ingreso en UCI neonatal (OR: 2,02). Se observó que el riesgo de cesárea y de retraso de crecimiento intrauterino fue mayor en el grupo de las gestantes de edad avanzada, pero esta asociación no resultó estadísticamente significativa. Tuvimos un caso de mortalidad materna en el grupo de edad materna avanzada y ningún caso de mortalidad neonatal en los grupos de estudio. Conclusiones: la edad materna avanzada representa un factor de riesgo para algunas complicaciones médicas y obstétricas importantes como son la prematuridad, la diabetes gestacional, la necesidad de ingreso del recién nacido en UCI neonatal, así como para la aparición de hemorragias uterinas durante el parto

La importancia del sexo fetal en la ecografía morfológica: genitales ambiguos y disgenesia gonadal mixta / The importance of fetal sex in morphological ultrasound: ambiguous genitalia and mixed gonadal dysgenesis

La identificación del sexo fetal forma parte de la ecografía de segundo trimestre. En ocasiones se presentan anomalías genitales que no permiten definirlo adecuadamente, lo que se conoce como genitales ambiguos. La importancia de los mismos se debe a su asociación con desórdenes del desarrollo sexual, patologías más complejas y graves. En la mayoría de casos el diagnóstico y el manejo es postnatal, estando bien establecido. El diagnóstico prenatal, en cambio, es poco frecuente, limitado y menos conocido. Presentamos el caso de una gestante de 20 años con el hallazgo de genitales ambiguos en semana 29 y posteriormente se diagnosticó de disgenesia gonadal mixta (AU)

Fetal sex identification is a well-established part of the second trimester ultrasound. Sometimes there are genital abnormalities that prevent proper identification, called ambiguous genitalia. Its importance is based on its association with development sex disorders, a far more severe and complex diseases. In most of the cases, diagnosis and management are postnatal and well systematized. Prenatal diagnosis, however, is less frequent and more limited. We present the case of a 20 year old pregnant with a finding of ambiguous genitalia at 29 week and a diagnosis of mixed gonadal dysgenesis (AU)

Obstrucción de vías urinarias bajas (LUTO): expectativas del tratamiento intraútero / Obstruction of low urinary tract (LUTO): expectations of intrauterine treatment

La obstrucción de vías urinarias bajas es una patología fetal infrecuente causada por una persistencia de valvas uretrales o una estenosis/atresia uretral. La ausencia de drenaje va a producir graves daños en el sistema renal y respiratorio, provocando una alta morbimortalidad. Los hallazgos ecográficos característicos son la megavejiga, el signo de la cerradura y la hidronefrosis. Los casos seleccionados son subsidiarios de terapia fetal intraútero, mediante la inserción de un shunt vesicoamniótico o la realización de una cistoscopia-láser, pero los resultados son aún controvertidos. Presentamos una paciente de 29 años con un caso de obstrucción de vías urinarias bajas (AU)

Low urinary tract obstruction is an uncommon fetal disease caused by posterior urethral valves or urethral stenosis/ atresia. Failure of drainage produces severe injury at urinary and respiratory sistem, with a high morbimortality. Sonographic findings are megacystis, keyhole sign and hydronephrosis. It is possible in selected cases the realization of in-uterotherapy, using a vesicoamniotics hunt (VAS) or a fetal cystoscopy. Outcomes and the usefulness of this techniques are still in debate. We present a patient of 29 years with a low urinary tract obstruction case (AU)

Corioangioma gigante placentario / Placental giant chorioangioma

El corioangioma es la tumoración benigna placentaria no trofoblástica más frecuente, aunque su incidencia es menor del 1%. En algunos casos raros superan los 4 cm, denominándose corioangiomas gigantes, y se relacionan con malos resultados perinatales debido al compromiso de flujo fetoplacentario. El diagnóstico de sospecha se realiza mediante ecografía-Doppler, siendo de utilidad la resonancia magnética nuclear. El diagnóstico definitivo es anatomopatológico. Es necesaria una vigilancia estrecha del bienestar fetal y puede precisar técnicas invasivas como la cordocentesis o la fetoscopia. Presentamos el caso de un corioangioma placentario gigante de 11 cm que fue diagnosticado a las 21 semanas de gestación (AU)

Chorioangioma is the most common non-trophoblastic placental benign tumour, although its incidence is less than 1%. Some rare tumours are larger than 4 cm, called giant choriangiomas, and are related to adverse perinatal outcomes because of the arrest of placental blood flow. Initial diagnosis is conducted with ultrasound Doppler, and magnetic resonance imaging can sometimes be useful. The definitive diagnosis is histological. Early suspicion allows more effective vigilance of foetal wellbeing and the possibility of diagnostic-therapeutic tools such as cordocentesis or foetoscopy. We present a case of a giant placental chorioangioma of 11 cm, diagnosed at 21 weeks of pregnancy (AU)

Asociación de nivel bajo de PAPP-A en primer trimestre con resultados obstétricos adversos / Association of low PAPP-A level in the first trimester with adverse obstetric outcomes

ANTECEDENTES: La PAPP-A es una proteína utilizada en obstetricia de forma rutinaria para el cribado de aneuploidías de primer trimestre. En los últimos años se está conociendo más acerca de su papel en la función placentaria. Diversos estudios están mostrando una asociación entre un nivel bajo de PAPP-A y distintos eventos obstétricos. OBJETIVO: Establecer una asociación entre PAPP-A baja y eventos obstétricos adversos. MÉTODO: Estudio retrospectivo de casos y controles anidado en una cohorte. Se han recogido las gestaciones únicas con PAPP-A inferior a percentil 5 en primer trimestre durante 2 años. Se ha recogido de la misma cohorte un grupo control, en proporción 2:1. Se compara mediante análisis estadístico la incidencia de eventos obstétricos adversos de cada grupo. RESULTADOS: Se incluyó un total de 285 pacientes en el grupo de casos y 570 pacientes en el grupo control. Se observó un aumento significativo en el grupo de casos de la incidencia de prematuridad, restricción del crecimiento, hipertensión gestacional y diabetes gestacional. Se ha correlacionado la PAPP-A baja con varios eventos obstétricos adversos, incluyendo prematuridad (OR 4,27), diabetes gestacional (OR 2,40), restricción del crecimiento (OR 2,36) e hipertensión gestacional (OR 2,22). No se observó relación con el resto de eventos obstétricos adversos. CONCLUSIÓN: Un nivel de PAPP-A bajo se asocia con aumentos significativos de prematuridad, diabetes gestacional, restricción del crecimiento e hipertensión gestacional.

BACKGROUND: PAPP-A is a placental protein used in obstetrics as a first trimester marker in aneuploidy screening. In the last few years we are knowing more about its placental function. Some studies are showing a association between low PAPP-A and obstetrical adverse events. AIM: Establish an association between low PAPP-A an obstetrical adverse events. METHOD: This is a retrospective nested case-control study. We identified each singleton pregnancy with a normal phenotype and a low PAPP-A (under percentile 5) in the last 2 years, and match it with a control group of the same population in a 2:1 proportion. It was compared the incidence of each obstetrical adverse outcomes with statistical analysis. RESULTS: We found 285 patients in the case group and match it with 570 patients from control group. It was observed a significative increase in the incidence of prematurity, intrauterine growth restriction, gestational hypertension and gestational diabetes. A low PAPP-A level was correlated with some obstetrical adverse events, like prematurity (OR 4.27), gestational diabetes (OR 2.40), intrauterine growth restriction (OR 2.36) and gestational hypertension (OR 2.22). We observe no correlation with the rest of outcomes. CONCLUSIONS: A low PAPP-A level is related with significative increases of prematurity, gestational diabetes, intrauterine growth restriction and gestational hypertension.

Twin-reversed arterial perfusion sequence in a triple monochorionic pregnancy with two direct pump fetuses results in significant cyclic Doppler waveform.

We report a case of a twin-reversed arterial perfusion (TRAP) sequence complication in monochorionic triplets, in which both normal fetuses were directly connected to the umbilical cord of the acardiac fetus, thus both acting as a pump twin. Doppler ultrasound showed a significant waveform pattern with two superposed systolic waveforms in the same vessel. After birth, placental findings confirmed the existence of two direct pump twins. The Doppler pattern described here may be of help to distinguish the existence of two pump twins in a triplet monochorionic pregnancy with TRAP.

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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