Non-immune hydrops fetalis is associated with bi-allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) gene.

Non-immune hydrops fetalis (NIHF) is a rare entity characterized by excessive accumulation of fluid within the fetal extravascular compartments and body cavities. Here we present two intrauterine fetal demises with NIHF presenting with oligohydramnios, cystic hygroma, pleural effusion, and generalized hydrops with predominance of subcutaneous edema. The fetuses also presented with ascites, severe and precocious IUGR and skeletal anomalies. Whole exome sequencing was applied in order to screen for a possible genetic cause. The results identified biallelic variants in MYBBP1A in both fetuses. A previous report described another case with a similar phenotype having compound heterozygous variants in the same gene. The protein encoded by MYBBP1A is involved in several cellular processes including the synthesis of ribosomal DNA, the response to nucleolar stress, and tumor suppression. Our functional protein analysis through immunohistochemistry indicates that MYBBP1A is a gene expressed during fetal stages. Altogether, we concluded that MYBBP1A is associated with the development of hydrops fetalis. More cases and further studies are necessary to understand the role of this gene and the mechanism associated with NIHF.

Prenatal Diagnosis of Aortic Coarctation: Prediction Algorithm according to Gestational Age.

OBJECTIVES: The aim of the study was first to quantify the diagnostic accuracy of predictive anatomical factors of aortic coarctation (CoA) and second to design a postnatal CoA probability algorithm according to gestational age (GA) in prenatal period. METHODS: Global and according to GA diagnostic performance of cardiac anatomical variables using the ROC curve were evaluated in a retrospective cohort of fetuses with suspicion of CoA (2004-2020). A serial testing strategy to predict postnatal CoA by fetal echocardiography was designed. RESULTS: 114 fetuses were included. Isthmus-to-ductal (I/D) ratio provided the best discrimination between healthy fetuses and those with CoA (AUC 0.91, 95% CI: 0.86-0.96, I/D < 0.74 sensitivity 96.3%, I/D < 0.6, specificity 92.5%) with good classification capacity in both the second and third trimesters of gestation. Isthmus z-score and pulmonary/aortic valve ratio increased accuracy in fetuses >28 and tricuspid/mitral valve ratio (TV/MV) in fetuses ≤28 weeks. Study of I/D plus TV/MV ratio in fetuses ≤28 and I/D ratio plus isthmus z-scores in fetuses >28 weeks allowed to correctly classify 91.8% of fetuses as high or low probability of postnatal CoA. CONCLUSIONS: Diagnostic discrimination of anatomic predictive factors for CoA varies according to GA. Specific algorithms according to GA increase accuracy in CoA's prenatal prediction.

[Congenital cystic adenomatoid malformation. Consequences of prenatal diagnosis]. / Enfermedad adenomatoidea quística pulmonar congénita. consecuencias de su diagnóstico prenatal.

BACKGROUND: Advances in technology and the specialized training of gynecologists in ultrasound have led to an increase in fetal diagnoses. Congenital cystic adenomatoid malformation (CCAM) is of particular interest because of its difficulty in predicting the disease evolution. OBJECTIVE: To review the cases of prenatal diagnosis of CCAM during the last five years in our hospital, and to analyze their evolution as a consequence of its diagnosis. PATIENTS AND METHODS: Retrospective study that reviewed the cases of CCAM between 2005 and 2010 treated in our hospital. We evaluated gestational age, type of CCAM and evolution in at least the first 12 months. RESULTS: Twenty-one cases were diagnosed (1 for every 2,660 deliveries in our hospital of reference), 3 of them with CCAM type 1 (14.3%), 8 with type 2 (38.1%) and 10 with type 3 (47.6%). Two patients proceeded with a medical interruption of pregnancy; in 11 patients lesions were stable, in eight they disappeared and one fetus suffered severe mediastinal shift with little healthy lung, and died during the first postpartum week. Four of eight cases in which the image disappeared were considered free of disease after birth. Of the 19 cases in which pregnancy was not interrupt, 15 had mediastinal shift and 6 did not; in five of them (83.3%), the image disappeared and only one remained stable. The lesion disappeared in only three cases of the 13 who had mediastinal shift (p < 0.01). Lobectomies were necessary in 8 of 19 cases, four are considered free of the disease and seven are still in follow-up. CONCLUSION: Congenital cystic adenomatoid malformation is a condition in which the council is extremely complex, but most cases evolved favorably. Severe complications such as hydrops are described in up to 25% of all CCAM.

[Role of middle cerebral artery Doppler in the management of Rhesus alloimmunization cases]. / Papel del Doppler en la arteria cerebral media en la atención de pacientes con isoinmunización Rhesus.

BACKGROUND: The most common cause of anemia remains fetal red cell alloimmunization. Although after the systematization of prophylactic anti-D gamma globulin decreased the number of cases, has not eliminated the problem. OBJECTIVES: To evaluate the role of the fetal middle cerebral artery peak systolic velocity in the management of fetus at risk for anemia due to Rh alloimmunization and analyze the effect in perinatal outcomes. MATERIAL AND METHOD: 68 pregnancies complicated by Rh alloimmunization, in La Paz Hospital (Madrid, Spain) since February 2006 until August 2009, with maternal antibody titers > or = 1:32, affected in previous pregnancies and/or anti-Kell isoimmunization. In every case it was measured the middle cerebral artery peak systolic velocity and the fetal hemoglobin concentration in blood obtained either by cordocentesis or at delivery. RESULTS: For the detection of moderate-severe fetal anemia, Doppler ultrasonography of the middle cerebral artery had a sensitivity of 80% (95% confidence interval: 59.8 to 100%), a specificity and positive predictive value of 100%, and a negative predictive value of 85.7% (95% confidence interval: 70.7 to 100%). The Pearson correlation coefficient between estimated hemoglobin and real hemoglobin was 0.71. The 22% (15/68) of the fetuses required at least one intrauterine transfusion making a total of 26. In 23% (6/26) of them appeared complications. The last middle cerebral artery peak systolic velocity measurement is associated with neonatal anemia and/or icterus (p < 0.01), anemia during the hospitalization (p < 0.05) and neonatal transfusion (p < 0.05). CONCLUSION: The measurement of the middle cerebral artery peak systolic velocity predicts moderate-severe fetal anemia cases, which are the most important in the clinical management because of the need of active treatment with intrauterine transfusion or induction labor.

Ileocecal endometriosis: diagnosis and management.

OBJECTIVE: Ileocecal endometriosis is rare. Symptoms range from no symptoms, cramps, vomiting, to acute intestinal obstruction. Our objective was to review our cases, clarify, and resume its most appropriate management focusing on the factors to determine diagnosis. This is a retrospective study by revision of medical charts of all ileal endometriosis cases of our unit from 2006 to 2014. CASE REPORT: Seven cases were found; three (43%) had previous endometriosis laparoscopic diagnosis, four (57%) had partial bowel obstruction episodes, three (43%) had chronic pelvic pain, and one developed acute intestinal obstruction in postoperative ileostomy closure. In three (43%), the diagnosis was made with magnetic resonance imaging (MRI) and double contrast barium enema, in one (14%) only with MRI, and the other three (43%) during surgery. All patients underwent resection of the ileum and evolved favorably. CONCLUSION: Variability in symptoms hinders diagnosis. The gold standard for diagnosis is MRI, but clinical suspicion optimizes imaging test diagnosis. Segmental resection should be indicated in the majority of the cases.

Complete loss of unilateral renal function secondary to endometriosis: a report of three cases.

OBJECTIVES: To report the impact that urinary tract endometriosis may have on renal function. Ureteral endometriosis is an uncommon and silent cause of renal injury. It is therefore very important to be highly suspicious in order to be able to make an early diagnosis and thus prevent renal failure. STUDY DESIGN: Case reports of the management and outcome of three cases of premenopausal women with deep endometriosis affecting the ureter, associated with secondary unilateral complete loss of renal function. RESULTS AND CONCLUSIONS: Ureteral involvement by endometriosis is a rare and often silent disease which is capable of producing significant morbidity, as it can lead to hydronephrosis and ultimately to renal failure. Because of the lack of specific symptoms and the limitations of imaging methods, a high index of suspicion is necessary to obtain an early diagnosis. On diagnosis of deep infiltrating endometriosis, urinary tract ultrasound is a screening tool to detect ureterohydronephrosis due to ureteral obstruction. MRI is of value to map the extent of disease. Surgery is the treatment of choice to remove endometriotic lesions and relieve ureteral obstruction if the kidney is still functional, or to perform a nephrectomy if there is a complete loss of renal function.

Síndrome microcefalia-coriorretinopatía-linfedema / Microcephaly-lymphedema-chorioretinal dysplasia

El síndrome de microcefalia-coriorretinopatía-linfedema es una enfermedad rara con expresividad variable y distintos tipos de herencia. El pronóstico desde el punto de vista neurológico también es variable. Presentamos un caso de esta patología dentro del diagnóstico diferencial de la microcefalia intraútero. El diagnóstico intraútero de microcefalia es complicado debido a la difícil valoración del desarrollo neurológico que presentarán estos fetos al nacimiento, por lo que el asesoramiento a los padres debe realizarse con sumo cuidado utilizando todos los métodos y algoritmos diagnósticos a nuestro alcance (AU)

Microcephaly-lymphedema-chorioretinal dysplasia is a rare disease with variable expression and distinct forms of inheritance. The neurological prognosis also varies. We report a case of this syndrome as an entity within the differential diagnosis of intrauterine microcephaly. Intrauterine diagnosis of microcephaly is complicated by the difficulty of predicting the degree of neurological development reached by these fetuses at birth. Consequently, great care should be taken when providing parental counseling, using all the diagnostic methods and algorithms available (AU)

Situs ambiguo asociado a cardiopatía e interrupción de la vena cava inferior con continuidad de la ácigos / Situs ambiguus associated with congenital heart disease and interruption of the inferior vena, cava and with azygos continuation

Entre la lateralidad habitual (situs solitus) y laimagen completa en espejo (situs inversus) seencuentra el situs ambiguo o heterotaxia. Sus dosmodalidades principales son el isomerismoizquierdo (con poliesplenia) o el derecho (conasplenia). La heterotaxia implica alteraciones en lamovilidad ciliar que dificultan la migración deórganos embrionarios. Presenta malposición deórganos toracoabdominales, cardiopatías complejasy otras malformaciones. Presentamos un caso dediagnóstico ecográfico prenatal de isomerismoizquierdo, hígado a la izquierda y asplenia,asociado a cardiopatía e interrupción de la venacava inferior con continuidad de la ácigos. Lalateralidad de los órganos fetales debe ser partedel examen ultrasonográfico rutinario, por lasfrecuentes malformaciones asociadas a laheterotaxia

There is a spectrum of heterotaxic syndromesbetween normal organ distribution (situs solitus)and congenital conditions in which major organsare mirrored from their normal position (situsinversus). The two main modalities are leftisomerism (with polysplenia) and right isomerism(with asplenia). Heterotaxic defects involve ciliarydyskinesia, hampering migration of embryonicorgans and leading to malposition of thoracic andabdominal organs, complex cardiac defects, andother malformations. We present a case of prenatalechographic diagnosis of levocardia, with left-sidedliver, asplenia, congenital heart disease, andinterruption of the inferior vena cava with azygoscontinuation. Because of the malformationsfrequently associated with heterotaxy, the positionof fetal organs should form part of routineultrasonographic examination (AU)