ABSTRACTObjectivesFirst, to estimate the prevalence of fetal aberrant right subclavian artery (ARSA) in our population and its association with Down syndrome. Second, to determine the feasibility of ultrasound to visualize ARSA in the three planes. Finally, to carry out a systematic review of the literature on the performance of second‐trimester ARSA to identify fetuses with Down syndrome.MethodsARSA was assessed by ultrasound in the axial plane and confirmed in the longitudinal and coronal planes during the second half of pregnancy in women attending our unit (from February 2011 to December 2012). A search of diagnostic tests for the assessment of ARSA was carried out in international databases. Relevant studies were subjected to a critical reading, and meta‐analysis was performed with Meta‐DiSc.ResultsOf the 8781 fetuses in our population (mean gestational age: 24 ± 5.4 weeks), 22 had Down syndrome. ARSA was detected in the axial view in 60 cases (0.7%) and confirmed in the coronal view in 96.7% and in the longitudinal view in 6.7% (P < 0.001). Seven cases with ARSA had Down syndrome and all were in the non‐isolated‐ARSA group. The estimates of positive likelihood ratio (LR) were 0 for isolated ARSA and 199 (95% CI, 88.9–445.2) for non‐isolated ARSA. In the systematic review, six studies were selected for quantitative synthesis. The pooled estimates of positive and negative LRs for global ARSA were, respectively, 35.3 (95% CI, 24.4–51.1) and 0.75 (95% CI, 0.64–0.87). For isolated ARSA, the positive and negative LRs were 0 (95% CI, 0.0–14.7) and 0.98 (95% CI, 0.94–1.02), respectively.ConclusionsThe prevalence of ARSA seems close to 1%. The coronal plane is the most suitable for its confirmation after detection in the axial plane. Detection of isolated or non‐isolated ARSA should guide decisions about karyotyping given that isolated ARSA shows a weak association with Down syndrome. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd

Objetivo Describir un caso de fallo recurrente tras fecundacion in vitro en el que coexisten varias alteraciones inmunologicas potencialmente relacionadas con este problema. La hipotesis es que esta coexistencia de factores podria explicar mejor la etiologia inmunologica que alteraciones individuales. Sujetos y metodos Se presentan datos clinicos e inmunologicos. Resultados Una paciente con infertilidad primaria y fallo recurrente tras 4 intentos de fecundacion in vitro tenia alteraciones inmunofenotipicas de celulas T, B y NK, antigenos compartidos por la pareja en una frecuencia inusualmente alta y anticuerpos antifosfolipidos. Conclusiones Distintas alteraciones inmunologicas pueden coexistir en casos aislados de fallo recurrente tras fecundacion in vitro.

We present a case of a spontaneous live monochorionic monoamniotic twin tubal ectopic pregnancy detected by transvaginal ultrasound scan after medical therapy with single dose of methotrexate failed. The incidence of this type of ectopic pregnancies is probably arising due to the increasing use of the assisted reproduction techniques, but they are underdiagnosed and mistreated, as surgical approach seems to be the most adequate in these cases.

Potocki–Lupski syndrome (PTLS) is a rare genetic disorder associated with neurodevelopmental delay and heart defects. We report the first case of prenatal diagnosis of PTLS in a fetus with hypoplastic left heart and aberrant right subclavian artery. Detection of a fetal heart defect should be followed by chromosomal and genetic studies in order to rule out fetal aneuploidy and/or associated genetic syndromes with significant implications for the treatment of children with PTLS.

Problem Natural killer ( NK ) cells play a key role in embryo implantation and pregnancy success, whereas blood and uterine NK expansions have been involved in the pathophysiology of reproductive failure ( RF ). Our main goal was to design in a large observational study a tree‐model decision for interpretation of risk factors for RF . Methods of study A hierarchical multivariate decision model based on a classification and regression tree was developed. NK and NKT ‐like cell subsets were analyzed by flow cytometry. Results By multivariate analysis, blood NK cells expansion was an independent risk factor for RF (both recurrent miscarriages and implantation failures). We propose a new decision‐tree model for the risk interpretation of women with RF based on a combination of main risk factors. Conclusions Women with age above 35 years and >13% CD 56 + CD 16 + NK cells showed the highest risk of further pregnancy loss (100%).

To describe the prevalence and the effect of selective fetoscopic laser photocoagulation (SFLP) of communicating vessels on preexisting right ventricular outflow tract obstruction (RVOTO) in the recipient fetus in twin-to-twin transfusion syndrome (TTTS). Seventy seven cases of TTTS diagnosed in, or referred to, the Fetal Medicine Unit of the HGUGM (April 2008–December 2011) with the diagnosis of RVOTO in the recipient twin were evaluated. RVOTO included annular hypoplasia, pulmonary stenosis (PS) and pulmonary atresia (PA). When SFLP was performed, echocardiographic follow up was established in order to assess the progress of pulmonary valve abnormalities. After birth, the diagnosis was confirmed by a pediatric cardiologist. Perinatal survival, persistence of RVOTO and the need for neonatal balloon valvuloplasty were analyzed. Sixteen (20.8%) recipient twins had pulmonary valve abnormalities (2 annular hypoplasia and 14 PS). Twelve cases (75%) were stages III and IV according to the Quintero's staging system. Two pregnancies were managed expectantly (1 spontaneous abortion at 17 w; 1 spontaneous delivery near term with postnatal confirmation of PS in the recipient twin). Laser therapy was performed in the remaining 14 pregnancies. Fetal demise was diagnosed in 4 of the 14 (28.6%) recipient fetuses with RVOTO. Intrauterine resolution of the pulmonary valve abnormality occurred in 4 cases (28.6%). Postnatal echocardiography confirmed the diagnosis of PS in the remaining 7 recipient twins (1 expectant management and 6 laser therapy). In all newborns, except for a postnatal death, a balloon pulmonary valvuloplasty was required during the first month of postnatal life. The prevalence of RVOTO in the recipient twin in TTTS is high. Laser therapy can improve pulmonary valve abnormalities. However, preexisting pulmonary valve pathology may persist and a balloon pulmonary valvuloplasty required in neonatal life, so a closed follow up is mandatory.

The liver is an immunological organ containing a large number of T, NK and NKT cells, but little is known about intrahepatic immunity after LTx. Here, we investigated whether the distribution of T, NK and CD3+CD56+NKT cells is altered in transplanted livers under different circumstances.Core biopsies of transplanted livers were stained with antibodies against CD3 and CD56. Several cell populations including T (CD3+CD56-), NK (CD3-CD56+) and NKT cells (CD3+CD56+) were studied by fluorescence microscopy. Cell numbers were analyzed in relation to the time interval after LTx, immunosuppressive therapy and stage of acute graft rejection (measured with the rejection activity index: RAI) compared to tumor free liver tissue from patients after liver resection due to metastatic disease as control.Recruitment of CD3+CD56+NKT cells revealed a significant decrease during high RAI scores in comparison to low and middle RAI scores (RAI 7–9: 0.03 ± 0.01/HPF vs. RAI 4–6: 0.1 ± 0.005/HPF). CD3+CD56+NKT cells were also lower during immunosuppressive therapy with tacrolimus (0.03 ± 0.01/HPF) than with cyclosporine (0.1 ± 0.003/HPF), cyclosporine/MMF (0.1 ± 0.003/HPF) or sirolimus (0.1 ± 0.01/HPF) treatment. Intrahepatic T cell numbers increased significantly 50 days after LTx compared to control liver tissue (4.5 ± 0.2/HPF vs. 1.9 ± 0.1/HPF). In contrast, NK cells (0.3 ± 0.004/HPF) were significantly fewer in all biopsies after LTx compared to the control (0.7 ± 0.04/HPF).These data indicate significant alterations in the hepatic recruitment of T, NK and CD3+CD56+NKT cells after LTx. The increase in T cells and the decrease in NK and CD3+CD56+NKT cells suggest a shift from innate to adaptive hepatic immunity in the liver graft.

To evaluate the perinatal outcome of monochorionic twins (MC) with severe twin-to-twin transfusion syndrome (TTTS) treated by selective fetoscopic laser photocoagulation therapy (SFLP) in a referral hospital. Restrospective study including MC twins pregnancies complicated by TTTS managed by SFLP in the Fetal Medicine Unit of the HGUGM (April 2008–December 2011). Quintero's stage at SFLP, technical success rate and perinatal outcome were analyzed. Sixty eight MC pregnancies complicated by TTTS were included (Quintero's staging system: 13 Stage I; 15 Stage II; 37 Stage III and 3 Stage IV). In 58 cases (85.3%) a SFLP was performed and in 10 (14.7%) a cord occlusion was decided. When only the cases of laser therapy were analyzed, the distribution across Quintero's stages was: 12 Stage I, 14 Stage II, 30 Stage III and 2 Stage IV. Mean gestational age at the time of the procedure was 20.3w. (range 16.5–25.4 w.; SD 2.26). Laser failure occurred in 3 cases (5.1%) and in 7 (12%) a twin anemia polycythemia sequence was diagnosed after surgery. The whole pregnancy was lost before 24 w. in 8 pregnancies (13.7%) and a couple opted for a termination of the pregnancy. In 46 of the 58 TTTS (80%), at least a twin survived. Mean gestational age at delivery was 33 w. (range 24.2–40 w.; SD 4.5) and in 31 cases (63.2%) gestational age at delivery was > 32 w. Mean birth weight of the recipient and donor twin were 1894 g. (range 650–3390 g.; SD 738) and 1643 g. (range 420–3700 g.; SD 808), respectively. Intrauterine therapy has dramatically improved the perinatal outcome in complicated MC twins. Selective fetoscopic laser photocoagulation of placental anastomoses is the first-line treatment for TTTS. In our series, at least a twin survived in the 80% of the cases. Prematurity remains the most important concern when endoscopic procedures are performed.

Blood expansion of Natural Killer (NK) cells (CD3(-)CD56(+)/CD16(+)) has been reported in women with recurrent miscarriages (RM) and implantation failures (IF) compared to fertile women. NK cells play a key role in embryo implantation and pregnancy success, whereas NK expansions are involved in the pathophysiology of recurrent gestational failure (RGF).We propose to study the association of circulating %NK cells in women with RPL. Our results show that NK cells did not vary across the menstrual cycle. NK were significantly higher in women with RGF (p=0.001) than in controls. Using Receiver Operating Characteristic (ROC) curves, the cut-off value for blood NK cells was 12% with 34% sensitivity and 76% specificity for RM and IF. Women with NK>12% presente more frequently pregnancy losses (p<0.0001) than those with <= 12% NK cells. Multivariate analysis disclosed that NK is an independent risk factor for RGF. A cut-off of 12% baseline NK defines a subgroup of RGF women of putative immune alterations.

To analyze the observed/expected lung to head ratio (O/E LHR) as a predictor factor in congenital diaphragmatic defects (CDD) and to compare to fetal lung volume (FLV) estimated by MRI. We retrospectively analysed 12 CDD diagnosed in the Fetal Medicine Unit of the HGUGM (February 08–February 10) in which US and MRI were performed. LHR was measured and then divided by the expected value for the GA and expressed as a percentage. FLV was measured by MRI in at least two planes, axial and sagital or coronal, and corrected by estimated fetal weight (EFW) calculated by US. According to the prognostic factors, risk for hypoplasia pulmonar was classified as low, moderate or high. Hepatic content was evaluated. Perinatal outcome was recorded. Twelve CDD were included, 11 congenital diaphragmatic hernia and 1 bilateral diaphragmatic eventration. GA at diagnosis was 23 w. (20.6–25.1). No chromosomal abnormalities were detected. Two cases were excluded because of multiple malformations associated, resulting in 10 CDD. GA at delivery was 38.2 w. (36.4–41) and mean birthweight 2933 g. (2030–3480). ECMO was required in 4 cases (4/10; 40%) and 4 newborns (4/10; 40%) died. Hepatic content was detected in 6 cases (6/10; 60%). Table 1 shows the risk for hypoplasia pulmonar estimated by US and MRI and the perinatal mortality according to the estimated risk. FLV/EFW estimated by MRI in combination with O/E LHR might be useful in predicting perinatal outcome in fetuses affected by CDD.

The aim of this study was to evaluate peak systolic velocity in the middle cerebral artery (MCA PSV) in fetuses affected by twin–twin transfusion syndrome (TTTS). Forty cases of TTTS diagnosed in the Fetal Medicine Unit of the HGUGM were included (April 08 to April 10). Ultrasound before surgery included estimated fetal weight (EFW), umbilical artery (UA) pulsatility index (PI), middle cerebral artery (MCA) PI, MCA PSV and ductus venosus (DV) PI. MCA PSV was converted to multiples of median (MOM). Anemia was defined by MCA PSV > 1.5 MOM. Incidence of anemia in donors and recipients was compared at diagnosis. Quintero stage was assessed as a risk factor for fetal anemia. Mean GA at diagnosis was 20.9 w. (16.4–31.3). MCA PVS was > 1.5 MOM in 3 donors (3/40; 7.5%) and in 1 recipient (1/40; 2.5%). In no case both twins were anemic. According to Quintero stage, 5 cases (12.5%) were stage I, 8 stage II (20%), 25 stage III (62.5%) and 2 stage IV (5%). No relation was found between MCA PSV and Quintero stage (Table 1). In spite of the classical physiopathology of TTTF, anemic donor and polycithemic recipient is not the rule. In fact, MCA PSV was > 1.5 MOM in only 7.5% of donors. It is difficult to explain the elevated MCA PSV in 1 recipient twin. Further studies are needed for a better understanding of TTTS basis.

We report one case of pregnancy-onset severe diffuse proliferative nephritis in a patient with systemic lupus erythematosus (SLE), who was successfully treated with a combination of anti-tumour necrosis factor (TNF)-alpha, plasmapheresis and high-dose intravenous gammaglobulin. No flares were observed either in clinical symptoms or in laboratory examinations during pregnancy or after delivery. Her autoantibodies except fluorescent anti-nuclear antibodies were negative. We suggest that a combination of anti-TNF-alpha, plasmapheresis and high-dose intravenous gammaglobulin may be a safe and effective therapy for pregnant patients suffering severe lupus nephritis.

Objective: To study the clinical, maternal, and neonatal characteristics of newborns with a birthweight of ≤?650 g.

Estudiar las caracteristicas clinicas, maternas y neonatales del conjunto de recien nacidos con edad gestacional ≤ 28 semanas en funcion del sexo Del total de 25.552 partos atendidos en el Servicio de Obstetricia y Ginecologia del Hospital General Universitario Gregorio Maranon, 322 (1,26%) tenian una edad gestacional ≤ 28 semanas durante el periodo comprendido entre enero de 1995 y junio de 2001. Se ha descartado a 46 ninos (14,3%) que habian muerto intrautero. Realizando el estudio sobre 276 recien nacidos, se encontro a 111 (40,8%) de sexo femenino y 165 (59,2%) de sexo masculino. Se analizan las caracteristicas maternas y neonatales en funcion del sexo del recien nacido, haciendo hincapie sobre la morbimortalidad En los recién nacidos con edad gestacional ≤ 28 semanas, la proporción de sexo masculino es mucho mayor (el 59,8 frente al 40,2%), en comparación con la proporción encontrada en el global de recién nacidos atendidos en nuestro servicio (el 50,6 frente al 49,4%) durante el mismo período (p < 0,01). De igual forma, en los recién nacidos de sexo masculino se encontró un incremento significativo en el porcentaje de madres cuyo parto se inició de forma espontánea, así como un aumento en el porcentaje de partos vaginales. En el resto de las variables analizadas no encontramos diferencias significativas entre los sexos. La mortalidad intrahospitalaria global fue del 27,5%. No se encontraron diferencias en el porcentaje de recién nacidos que fallecieron durante las primeras 72 h ni a lo largo del período de ingreso hospitalario Las diferencias encontradas en los parámetros del período intraparto podrían explicarse por la implicación diferencial de las distintas hormonas sexuales en la contractilidad uterina. Sin embargo, no se ha encontrado evidencia de que el sexo influya de forma determinante para la morbimortalidad posnatal en el conjunto de recién nacidos extremadamente prematuros To compare the clinical, maternal and neonatal features of all newborns with a gestational age of ≤ 28 weeks by sex Of a total of 25,552 births at the Gregorio Maranon General Hospital between January 1995 and June 2001, 322 (1.26%) had a gestational age of ≤ 28 weeks. Forty-six cases (14.3%) of intrauterine fetal demise were excluded. Of 276 newborns, we studied 111 females (40.8%) and 165 males (59.2%). Maternal and neonatal features were analyzed in both sexes, particularly morbidity and mortality Among newborns with a gestational age of ≤ 28 weeks, the percentage of males vs females was much greater (59.8% vs 40.2%) than among overall births in our hospital (50.6% vs 49.4%) in the same period (p < 0.01). Likewise, the percentage of spontaneous and vaginal deliveries was significantly higher among male neonates. No significant differences were found between sexes in the remaining parameters studied. The overall mortality rate before discharge was 27.5%. No differences were found in the percentage of neonates who died, either in the first 72 hours of life or before hospital discharge The differences found in the intrapartum period might be explained by the influence of sex hormones on uterine contractility. However, we found no evidence that sex has a determining influence on postnatal morbidity or mortality in extremely premature newborns

IntroductionCloacal exstrophy results from a migration failure of the lateral mesodermal folds of the infraumbilical anterior abdominal wall, and rupture of the resulting enlarged, persistent cloacal membrane before the eighth week of gestation. Myelocystocele is a defect of the medular channel characterizased by a cystic that contain dural and arachnoid layer and the ependymal lining layer, respectively. The association of persistent cloaca and caudal spinal anomalies is thought to be related to cell loss in the caudal cell mass, which affects caudal spinal column formation and cleavage of the cloaca by the urorectal septum. Cloacal malformation occurs in approximately 1 in 65 000 live male births. Prenatal ultrasound may lead to the diagnosis in selected cases.Case reportWe report an unusual case of prenatally detected with a myelocystocele and cloacal malformation. Additional anomalies included an omphalocele and malformations of the upper urogenital tract, skeleton, and vertebral column. Labor was induced at 34 weeks' estimated gestational age. It finish by eutocical delivery. A 2154‐g male was born, Apgar 6/8, pH 7.32. The newborn was taken to NCIU and the neonatal outcome was favourable.