Multicentre randomised trial of screening with sFlt1/PlGF and planned delivery to prevent pre-eclampsia at term: protocol of the PE37 study.

INTRODUCTION: Pre-eclampsia affects ~5%-7% of pregnancies. Although improved obstetric care has significantly diminished its associated maternal mortality, it remains a leading cause of maternal morbidity and mortality in the world. Term pre-eclampsia accounts for 70% of all cases and a large proportion of maternal-fetal morbidity related to this condition. Unlike in preterm pre-eclampsia, the prediction and prevention of term pre-eclampsia remain unsolved. Previously proposed approaches are based on combined third-trimester screening and/or prophylactic drugs, but these policies are unlikely to be widely implementable in many world settings. Recent evidence shows that the soluble fms-like tyrosine kinase-1 (s-Flt-1) to placental growth factor (PlGF) ratio measured at 35-37 weeks' gestation predicts term pre-eclampsia with an 80% detection rate. Likewise, recent studies demonstrate that induction of labour beyond 37 weeks is safe and well accepted by women. We hypothesise that a single-step universal screening for term pre-eclampsia based on sFlt1/PlGF ratio at 35-37 weeks followed by planned delivery beyond 37 weeks reduces the prevalence of term pre-eclampsia without increasing the caesarean section rates or worsening the neonatal outcomes. METHODS AND ANALYSIS: We propose an open-label randomised clinical trial to evaluate the impact of a screening of term pre-eclampsia with the sFlt-1/PlGF ratio followed by planned delivery in asymptomatic nulliparous women at 35-37 weeks. Women will be assigned 1:1 to revealed (sFlt-1/PlGF known to clinicians) versus concealed (unknown) arms. A cut-off of >90th centile is used to define the high risk of subsequent pre-eclampsia and offer planned delivery from 37 weeks. The efficacy variables will be analysed and compared between groups primarily following an intention-to-treat approach, by ORs and their 95% CI. This value will be computed using a Generalised Linear Mixed Model for binary response (study group as fixed effect and the centre as intercept random effect). ETHICS AND DISSEMINATION: The study is conducted under the principles of Good Clinical Practice. This study was accepted by the Clinical Research Ethics Committee of Hospital Clinic Barcelona on 20 November 2020. Subsequent approval by individual ethical committees and competent authorities was granted. The study results will be published in peer-reviewed journals and disseminated at international conferences. TRIAL REGISTRATION NUMBER: NCT04766866.

First alongside midwifery led unit in a high complexity public hospital in Spain: Maternal and neonatal outcomes.

PROBLEM: Midwifery led units are rare in Spain. BACKGROUND: Midwife-Led Care (MLC) is a widely extended model of care and, within this, the alongside midwifery-led units (AMLU) are those hospital-based and located in close connection with obstetric units. In Spain, CL is the first center belonging to the National Health System of these characteristics. AIM: To evaluate the first year of activity of this pioneering unit. METHODS: An observational cross-sectional study was carried out to assess maternal and neonatal outcomes of births facilitated at CL by comparing with those births that fulfilled the criteria to be admitted at the AMLU but were assisted at the standard obstetric care unit of the hospital. FINDINGS: 174 (20,3%) women and birthing people decided to give birth at CL, whereas 684 (79,7%) gave birth at the Obstetric Unit of the Hospital. Women assisted at the AMLU had lower intervention rates (episiotomy, epidural analgesia) and a higher rate of breastfeeding practice. There were no statistical differences in maternal outcomes (postpartum hemorrhage, third-or-four-degree laceration) or neonatal outcomes (Apgar< 7 at 5 min; birth weight < 2500 gr; macrosomia; shoulder dystocia, neonatal care transfer). DISCUSSION: There were differences in transfers from MLU to OU between nulliparous and multiparous; the main reason for transfer is the request for analgesia. Epidural analgesia should be considered when analyzing maternal outcomes. CONCLUSION: An alongside midwifery-led unit is a safe option with a low incidence of complications. This model of care can be positively implemented at the Public Healthcare System.

Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by pathogenic variants in NF1 Recently, NF1 testing has been included as a clinical criterion for NF1 diagnosis. Additionally, preconception genetic counselling in patients with NF1 focuses on a 50% risk of transmitting the familial variant as the risk of having a sporadic NF1 is considered the same as the general population. METHODS: 829 individuals, 583 NF1 sporadic cases and 246 patients with NF1 with documented family history, underwent genetic testing for NF1. Genotyping and segregation analysis of NF1 familial variants was determined by microsatellite analysis and NF1 sequencing. RESULTS: The mutational analysis of NF1 in 154 families with two or more affected cases studied showed the co-occurrence of two different NF1 germline pathogenic variants in four families. The estimated mutation rate in those families was 3.89×10-3, 20 times higher than the NF1 mutation rate (~2×10-4) (p=0.0008). Furthermore, the co-occurrence of two different NF1 germline pathogenic variants in these families was 1:39, 60 times the frequency of sporadic NF1 (1:2500) (p=0.003). In all cases, the de novo NF1 pathogenic variant was present in a descendant of an affected male. In two cases, variants were detected in the inherited paternal wild-type allele. CONCLUSIONS: Our results, together with previous cases reported, suggest that the offspring of male patients with NF1 could have an increased risk of experiencing de novo NF1 pathogenic variants. This observation, if confirmed in additional cohorts, could have relevant implications for NF1 genetic counselling, family planning and NF1 genetic testing.

Assessment of an intervention to optimise antenatal management of women admitted with preterm labour and intact membranes using amniocentesis-based predictive risk models: study protocol for a randomised controlled trial (OPTIM-PTL Study).

INTRODUCTION: The majority of women admitted with threatened preterm labour (PTL) do not delivery prematurely. While those with microbial invasion of the amniotic cavity (MIAC) represent the highest risk group, this is a condition that is not routinely ruled out since it requires amniocentesis. Identification of low-risk or high-risk cases might allow individualisation of care, that is, reducing overtreatment with corticosteroids and shorten hospital stay in low-risk women, while allowing early antibiotic therapy in those with MIAC. Benefits versus risks of amniocentesis-based predictor models of spontaneous delivery within 7 days and/or MIAC have not been evaluated. METHODS AND ANALYSIS: This will be a Spanish randomised, multicentre clinical trial in singleton pregnancies (23.0-34.6 weeks) with PTL, conducted in 13 tertiary centres. The intervention arm will consist in the use of amniocentesis-based predictor models: if low risk, hospital discharge within 24 hours of results with no further medication will be recommended. If high risk, antibiotics will be added to standard management. The control group will be managed according to standard institutional protocols, without performing amniocentesis for this indication. The primary outcome will be total antenatal doses of corticosteroids, and secondary outcomes will be days of maternal stay and the occurrence of clinical chorioamnionitis. A cost analysis will be undertaken. To observe a reduction from 90% to 70% in corticosteroid doses, a reduction in 1 day of hospital stay (SD of 2) and a reduction from 24% to 12% of clinical chorioamnionitis, a total of 340 eligible patients randomised 1 to 1 to each study arm is required (power of 80%, with type I error α=0.05 and two-sided test, considering a dropout rate of 20%). Randomisation will be stratified by gestational age and centre. ETHICS AND DISSEMINATION: Prior to receiving approval from the Ethics Committee (HCB/2020/1356) and the Spanish Agency of Medicines and Medical Devices (AEMPS) (identification number: 2020-005-202-26), the trial was registered in the European Union Drug Regulating Authorities Clinical Trials database (2020-005202-26). AEMPS approved the trial as a low-intervention trial. All participants will be required to provide written informed consent. Findings will be disseminated through workshops, peer-reviewed publications and national/international conferences. PROTOCOL VERSION: V.4 10 May 2021. TRIAL REGISTRATION NUMBERS: NCT04831086 and Eudract number 2020-005202-26.

COVID-19 and pregnancy: An opportunity to correct an historic gender bias.

Current literature and clinical guidelines do not include pregnant women as an a priori risk group for COVID-19. However, a gender vision of health begs the question: Why are pregnant women not considered a risk group for COVID-19? The answer is clear: historically, most community scientific studies have not considered female gender, or pregnancy as a state, to be a focus of special interest or effort. Unfortunately, this bias seems to be maintained in the COVID-19 epidemic: most current guidelines for diagnosing SARS-CoV-2 infection during pregnancy apply the same standard criteria as for the general population.

Prenatal Evaluation of the Fetal Conus Medullaris on a Routine Scan.

OBJECTIVE: To assess the ability to identify the conus medullaris (CM) and measure the conus-sacrum distance (CS distance) on a routine scan and the relationship with maternal and fetal factors. METHODS: This was a prospective study. The assessment of the CM and the CS distance and the influence of the body mass index (BMI), gestational age (GA) and fetal position were analyzed. The correlation between the femur length (FL) and the GA with the CS distance was evaluated. RESULTS: A total of 696 fetuses were analyzed. The CM could be visualized in 82.3% of the cases, and the CS distance could be analyzed in 81.2% of the cases. The CM assessment was statistically associated with BMI and fetal position but not with GA. The CS distance assessment was statistically associated with BMI and GA but not with fetal position. We determined a significant association between the FL/CS distance and between the GA/CS distance. CONCLUSIONS: Assessment of the CM is possible on most routine scans. The CS distance could be introduced to routine scans for the assessment of prenatal skin-covered spinal dysraphism. High BMI, advanced GA and breech presentation could be potential factors limiting the feasibility of evaluating the CM.

Initial experience with non-invasive prenatal testing of cell-free DNA for major chromosomal anomalies in a clinical setting.

OBJECTIVE: To evaluate non-invasive prenatal testing (NIPT) of cell-free DNA (cfDNA) as a screening method for major chromosomal anomalies (CA) in a clinical setting. METHODS: From January to December 2013, Panorama™ test or Harmony™ prenatal test were offered as advanced NIPT, in addition to first-trimester combined screening in singleton pregnancies. RESULTS: The cohort included 333 pregnant women with a mean maternal age (MA) of 37 years who underwent testing at a mean gestational age of 14.6 weeks. Eighty-four percent were low-risk pregnancies. Results were provided in 97.3% of patients at a mean reporting time of 12.9 calendar days. Repeat sampling was performed in six cases and results were obtained in five of them. No results were provided in four cases. Four cases of Down syndrome were detected and there was one discordant result of Turner syndrome. We found no statistical differences between commercial tests except in reporting time, fetal fraction and MA. The cfDNA fraction was statistically associated with test type, maternal weight, BMI and log ßhCG levels. CONCLUSIONS: NIPT has the potential to be a highly effective screening method for major CA in a clinical setting.

Sonographic evaluation of the fetal conus medullaris.

OBJECTIVE: The aim of this study is to determine the most reproducible method in the sonographic evaluation of the conus medullaris (CM) and its relationship with gestational age (GA). METHODS: This is a prospective study of singleton structurally normal fetuses between 20 and 30 weeks' gestation. Sonographic evaluation of the CM was performed using two methodologies: a qualitative assessment of the CM level in relation to the lumbar vertebrae and a quantitative measurement of the distance from the CM to the last spine ossification centre (conus-sacrum or CS distance). Both parameters were analysed offline by two operators using 3D stored volumes. Interobserver variability of methods, the relationship between CS and femur length (FL) or GA was evaluated. RESULTS: We analysed 101 3D volumes. Interobserver concordance was low for the CM level (k = 0.4, P < 0.05) and high for CS distance (ICC = 0.950). A significant correlation between CS and both FL and GA was observed. CONCLUSIONS: CS distance but not CM level is reproducible. CS distance is significantly correlated with both FL and GA. CS distance could be useful in the assessment of prenatal skin-covered spinal dysraphism.

Systematic review of screening for trisomy 21 in twin pregnancies in first trimester combining nuchal translucency and biochemical markers: a meta-analysis.

AIM: This article is a systematic review of the literature to establish the detection rate and false-positive rate of the combined test for the screening of trisomy 21 in twins. MATERIAL AND METHODS: We conducted a literature search (MEDLINE, EMBASE and ScienceDirect and Cochrane) to identify studies between 1995 and 2013 that provided data on the combined test in twins. Selected studies included data on maternal age, number of fetuses affected by Down syndrome, test strategy, sensitivity and specificity of the test. RESULTS: The combined test in twins had a pooled sensitivity of 0.893 [95% confidence interval (CI) 0.797-0.947] and a pooled specificity of 0.946 (95% CI 0.933-0.957). The performance of the test was good (summary receiver operating characteristic area under the curve: 0.817). In dichorionic twins, sensitivity and specificity were 0.862 (95% CI 0.728-0.936) and 0.952 (95% CI 0.942-0.96), respectively. In monochorionic twins, the sensitivity and specificity were 0.874% (95% CI 0.526-0.977) and 0.954% (95% CI 0.943-0.963), respectively. CONCLUSIONS: The results of this meta-analysis show that the accumulative evidence on the performance of the combined test in twin pregnancies is good. Nowadays, it seems to be the best first-trimester screening test available for twin pregnancies.

Concordance between prenatal ultrasound and autopsy findings in a tertiary center.

OBJECTIVE: The aim of this study was to evaluate the ultrasound (US)/autopsy concordance in elective termination of pregnancies (TOP) due to fetal causes. METHODS: We performed a retrospective evaluation of elective TOP from 2004 to 2012. Inclusion criteria were gestational age at termination <24 weeks, fetal pathology and availability of US/autopsy data. Based on the US-autopsy concordance, cases were divided into four groups: Group 1: agreement; Group 2: autopsy confirmed all US findings but provided additional information; Group 3: autopsy didn't confirm all US findings; Group 4: disagreement. RESULTS: One hundred and fifty-one patients fulfilled the inclusion criteria during the study period. Central nervous system malformations (91.5%), cardiovascular anomalies (90.2%) and renal system malformations (91.3%) were confirmed by autopsy. We found less concordance in the abdominal and musculoskeletal anomalies (61.5% and 66.7%, respectively). There were 130 (86%) fetuses in group 1, 7 in group 2 (4.6%), 3 in group 3 (1.9%) and 11 in group 4 (7.2%). In 5.29% of cases, the autopsy added relevant information to the diagnosis and counselling. CONCLUSIONS: Diagnosis concordance between US and necropsy is achieved in almost 90% of cases. An autopsy may help to adjust the diagnosis and help in counselling the parents for a future pregnancy.

Cumulative sum plots and retrospective parameters in first-trimester ductus venosus quality assurance.

OBJECTIVE: This study aimed to evaluate the application of two quality assurance methods to the ductus venosus pulsatility index (DVPI), as a first-trimester aneuploidy marker, including retrospective assessment of distribution parameters and cumulative sum (CUSUM) plots. METHODS: The DVPI was measured in 14 444 singleton fetuses at 11+0 to 13+6 weeks in two Fetal Medicine centers during a 4-year period. Sonologist-specific quality assurance distribution parameters, previously described for nuchal translucency, were assessed: the median multiples of the median (MoM), the logarithmic standard deviation of DVPI MoMs and the weekly DVPI percent decrease. Quality assurance results were compared between median MoMs and MoM-based CUSUM plots. RESULTS: When sonologist-specific DVPI distribution parameters were retrospectively applied for quality assurance, a 1.0 median MoM, a 0.1 median logarithmic standard deviation and a 3.4 median weekly DVPI drop percentage were observed. CUSUM plots showed good agreement with 0.9-1.1 MoMs range for median MoM, in the assessment of sonologist-specific performances. CONCLUSION: Retrospective and prospective DVPI quality assurance methods appear to be applicable to DVPI at 11+0 to 13+6 weeks. Its use should be encouraged if DVPI is to be added to first-trimester Down syndrome or cardiac defects screening.

Analysis of three different strategies in prenatal screening for Down's syndrome in twin pregnancies.

OBJECTIVES: To compare the performance of three different strategies in prenatal screening for Down's syndrome in twins [nuchal translucency, the combined test, the combined test + ductus venosus pulsatility index (DVPI)]. METHODS: We included 277 twin pregnancies with two cases of trisomy 21 (both dichorionic). We performed a computer simulation of Down's syndrome NT screening, combined test screening and the combined test with the addition of DVPI screening using the commercialized software SsdwLab6. The strategies were compared using the area under the receiver operating characteristic curve. RESULTS: NT screening false-positive rate (FPR) was 10.9% (95% CI: 8.3-13.5). The combined test FPR was 6.2% (95% CI: 4.1-8.2%) and the combined test plus DVPI was 6% (95% CI: 4-8). FPR was higher in advanced maternal age patients. Detection rate was 100% in all cases. The area under the curve was 0.987 (95% CI: 0.972-0.994) in NT screening; 0.987 (95% CI: 0.978-0.997) in the combined test and 0.983 (95% CI: 0.977-0.996) in the combined test + DVPI. CONCLUSIONS: Down's syndrome screening is feasible in twins with low FPR. The results of this study are similar to the results achieved in singletons. The combined test appears to be the most effective. The addition of DVIP does not significantly improve the prenatal screening for trisomy 21.

Updated reference ranges for the ductus venosus pulsatility index at 11-13 weeks.

OBJECTIVE: To update the reference ranges for the ductus venosus pulsatility index (DVPI) at 11+0 to 13+6 gestational weeks. METHODS: DVPI was calculated in 14,444 singleton fetuses at 11+0 to 13+6 weeks in two Fetal Medicine Centers, during a 4-year period. Using previously described medians, DVPI evolution was assessed both over the study period on a yearly basis and over gestation, grouping fetuses according to 5-mm crown-rump length (CRL) ranges. Weighted DVPI medians, the 5th and 95th percentiles and distribution parameters for unaffected and trisomy 21 fetuses were newly calculated. RESULTS: A significant DVPI multiple of the median decrease was observed over both the study period (p < 0.01) and over gestation (p < 0.01) using previous medians, in the two centers. Newly calculated weighted medians were lower than those previously described, decreasing with CRL. Distribution parameters calculated using the new medians were different from those previously described. CONCLUSION: DVPI reference ranges were lower than those previously reported and decreased with CRL. Updated medians and distribution parameters should be considered to include the DVPI as a Gaussian marker in trisomy 21 screening and for quality control purposes.

First trimester risk assessment for trisomy 21 in twin pregnancies combining nuchal translucency and first trimester biochemical markers.

OBJECTIVE: The aim is to describe the performance of first-trimester combined risk assessment in twin pregnancies. METHODS: Maternal serum free beta-human chorionic gonadotrophin and pregnancy-associated plasma protein A (PAPP-A) were determined at 8 to 12 weeks and fetal nuchal translucency (NT) was measured at 11 to 13+6 weeks. The individual risk was estimated for each fetus using the combined test in dichorionic twins. In monochorionic twins, the mean risk assessment of the two fetuses was used. An invasive diagnostic procedure was offered when the risk was ≥ 1 : 270 in either one of the fetuses. RESULTS: From February 2007 to June 2011, 447 twin pregnancies were enrolled in this study. There were 402 (89.9%) dichorionic and 45 (10.1%) monochorionic twins. In dichorionic twins, mean crown-rump length (CRL) was 63.9 mm; median NT multiples of the median (MoM) was 0.97; median Β-hCG was MoM 1.74; median PAPP-A was 1.72. In monochorionic twins, mean CRL was 61.9 mm; median NT MoM was 0. 98; median Β-hCG MoM was 1.44; and median PAPP-A was 1.51. Two pregnancies with Down syndrome were detected by first trimester screening, both in dichorionic twins. The false positive rate was 5.7% (95% confidence interval 4.1-7.3) and 4.4% (95% confidence interval 0.1-8.8%) in dichorionic and monochorionic twins, respectively. CONCLUSIONS: The combined test in twins appears to be a good method for Down syndrome screening with a high detection rate and an acceptable false-positive rate.

Is the addition of the ductus venosus useful when screening for aneuploidy and congenital heart disease in fetuses with normal nuchal translucency?

OBJECTIVE: The aim of this study was to examine the possible role of Doppler ultrasound assessment of ductus venosus (DV) blood flow at 11⁺°-13⁺6 weeks' gestation in fetuses with normal nuchal translucency (NT) in screening for autosomal trisomies (AT) and for congenital heart diseases (CHD) in chromosomally normal fetuses. METHODS: First-trimester combined screening for trisomy 21 (T21) was carried out prospectively for 7 years in singleton pregnancies. NT and the pulsatility index for DV (DVPI) were calculated. The DV was analyzed according to its association with AT and CHD. The detection rate (DR), false-positive rate (FPR), positive predictive value (PPV), and odds ratio (OR) for abnormal DV were calculated. RESULTS: Abnormal DV as an early marker of euploid CHD gives a DR of 12.5%, an FPR of 4.3%, a PPV of 1.4%, and a negative predictive value (NPV) of 99.5%, with an OR of 3.1 (95% CI 1.3-7.4). Moreover, abnormal DV as an early marker of AT shows a DR of 35.7%, an FPR of 4.3%, a PPV of 1.2%, an NPV of 99.9%, and an OR of 12.3 (95% CI 4.1-36), and the values are 33.3, 4.3, 0.97, and 99.9% and 11 (95% CI 3.2-36.9), respectively, for T21. CONCLUSIONS: Our data supports the association between increased DVPI and CHD or AT. The sensitivity of this marker is not strong enough to be used a screening test.

Early first-trimester free-ß-hCG and PAPP-A serum distributions in monochorionic and dichorionic twins.

OBJECTIVE: To examine the distribution of first-trimester biochemical markers of aneuploidy in twins according to chorionicity. METHODS: Maternal serum free-ß-human chorionic gonadotropin (hCG) and pregnancy-associated plasma protein A (PAPP-A) were measured between 8-13 + 6 weeks as a part of a routine first-trimester screening program in conjunction with fetal nuchal translucency measured at 11 to 13 + 6 weeks' gestation. Data from 279 twin pregnancies were extracted from our fetal databases. Down syndrome cases were excluded. Individual marker concentrations were expressed as weight, ethnicity, smoking and maternal diabetes corrected. To compare the distributions of the biochemical parameters, a generalized additive model was used adjusted to a smoothing regression model with the values transformed with base 10'' logarithm using R software (generalized additive model-smoothing spline regression). RESULTS: Free-ß-hCG and PAPP-A distributions, analyzed with a generalized additive model adjusted to a smoothing regression model, were significantly different depending on the chorionicity. We graphically displayed the relationship between the predicted concentration of the free-ß-hCG and PAPP-A and the gestational age in days for monochorionic and dichorionic twins adjusted by weight. CONCLUSION: Pregnancy-associated plasma protein A and free-ß-hCG values are gestational age specific. It is necessary to make a distinction between monochorionic and dichorionic twins because biochemical markers are lower in monochorionic than in dichorionic twins.

Control de calidad en el cribado prenatal de aneuploidías / Quality control in prenatal screening for aneuploidy

Un aspecto esencial e imprescindible de los programas de cribado prenatal es el control de calidad. En este sentido, contrariamente a lo que ocurre en el ámbito del laboratorio clínico, donde las pruebas analíticas están sometidas a estrictos controles de calidad para determinar y confirmar su fiabilidad, en el campo de la medicina fetal y más concretamente en el ámbito de la ecografía prenatal, el concepto de evaluación de la calidad y la certificación solo recientemente ha sido objeto de interés. En todo programa de cribado prenatal, aunque la tasa de detección del síndrome de Down (SD) sigue siendo una prioridad y un indicador de su efectividad, este parámetro no puede ser utilizado como un marcador fiable de la calidad del mismo, fundamentalmente debido a la baja prevalencia de dicha condición. Los esfuerzos en el control de calidad del cribado prenatal de aneuploidías deben incluir indicadores más fiables, realistas y de aplicación individualizada. Este artículo pretende revisar y clarificar los conceptos fundamentales en el ámbito del control de calidad en el cribado prenatal de aneuploidías y propone estrategias para mejorar su fiabilidad (AU)

Quality control is an essential aspect of prenatal screening programs. In this respect, contrary to what happens in the field of the clinical laboratory, where the analytical tests are submitted to strict quality controls to determine and to confirm their reliability in the field of the foetal medicine, and more specifically in the área of prenatal ultrasound, the concept of quality assessment and certification has only recently been a subject of interest. In any prenatal screening program, although the detection rate of Down’s Síndrome (SD) remains being a priority and an indicator of its efficiency, this parameter cannot be used as a reliable marker of its quality, mainly due to the low prevalence of this condition. Efforts in the quality control of prenatal screening for aneuploidy should include more reliable, realistic and individualised applications. This article aims to review and clarify the key concepts in the field of quality control in prenatal screening for aneuploidy and proposes strategies to improve reliability (AU)

Diagnóstico prenatal y evolución de cardiopatías congénitas / Prenatal diagnosis and outcome of congenital heart diseases

Objetivo. Evaluar el diagnóstico prenatal y resultados posnatales de las cardiopatías congénitas diagnosticadas en nuestra Sección de Medicina Fetal. Métodos. Se incluyeron en el estudio aquellas gestaciones en las que se realizaron controles ecográficos en nuestro Servicio de Obstetricia con seguimiento prenatal y posnatal entre enero 2004 y febrero 2009. Confirmamos la concordancia diagnóstica prenatal/posnatal y describimos el seguimiento posnatal. Excluimos del estudio: comunicaciones interventriculares <3mm, los defectos septales atriales tipo ostium secundum y la persistencia del ductus arterioso. Resultados. En el periodo de estudio, se atendieron 11.821 gestaciones y se realizaron 829 ecocardiografías: 744 en gestaciones únicas (89,7%) y 85 en gestaciones múltiples (10,3%). Se diagnosticaron 108 cardiopatías congénitas (CC) (prevalencia 0,9%). La edad materna media fue de 33 años (rango 26-44 años). La edad gestacional media, en el momento del diagnóstico del defecto cardíaco, fue de 21,6 semanas (rango 12-40). Se encontraron alteraciones cromosómicas asociadas en 15 casos (13.8%) y anomalías extracardíacas en 40 fetos (37%). Se analizó la microdelección del cromosoma 22 en todos los casos de anomalías conotruncales. La tasa de falsos negativos fue del 5,5%, la concordancia pre y posnatal de 85,7%. Se realizaron 47 (43,1%) interrupciones del embarazo y una reducción embrionaria. Seguimos a los recién nacidos afectos de CC: 52 están vivos (supervivencia 47,7%) y 6 murieron (mortalidad 5,5%). Nuestra tasa de detección es del 94,4%, con una especificidad del 99,9%, valor predictivo positivo del 95,3% y valor predictivo negativo del 99,9%. Conclusiones. El trabajo en equipo multidisciplinar nos permite una detección prenatal de CC satisfactoria y una gran precisión diagnóstica(AU)

Objective. To evaluate the prenatal diagnosis and the postnatal outcome in congenital heart diseases diagnosed in our f Foetal Medicine Unit. Material and method. We reviewed all fatal echocardiographs performed in our unit between January 2004 and February 2009. We confirmed the prenatal / post-natal diagnostic concordance and we also reviewed the postnatal outcome. We excluded from the study: interventricular communications < 3mm, atrial septal defects type ostium secundum and the persistence of ductus arteriosus. Results. In the study period, we attended to 11,821 pregnancies and we performed 829 echocardiographs. There were 744 single births (89.7%) and 85 were multiple (10.3%). We prenatally diagnosed 108 congenital heart diseases (prevalence). The median maternal age was 33 (range 26-44) and the median gestational age at diagnosis was 21.6 weeks (range 12-40). We found associated chromosomal abnormalities in 15 cases (13.8%) and extracardiac malformations in 40 foetuses (37%). We analysed CATCH twenty two mutation in all cases with conotruncal anomalies, but in all cases the result was negative. Our false negative rate was 5.5%, pre- and post-natal concordance was 85.7%. There were 47 interruptions and we performed one embryonic reduction. We followed up all our newborns with congenital heart diseases: 52 are alive (47.7%) and 6 died (mortality: 5.5%). Our detection rate is 94.4%, with a specificity of 99.9%, positive predictive value 95.3% and negative predictive value 99.9%. Conclusions. Multidisciplinary team work leads to a better detection of congenital heart disease and to a better diagnostic accuracy(AU)

Valoración de la translucencia nucal y anatomía fetal en la ecografía de 11-13+6 semanas: técnica bidimensional frente a tridimensional / Assessment of nuchal translucency and foetal anatomy in the 11-13.6 weeks ultrasound: two-dimensional versus three-dimensional technique

Introducción. se valora la posibilidad de evaluar la anatomía fetal y la medición de la translucencia nucal (TN) a partir del estudio diferido de un volumen capturado mediante ecografía tridimensional (3D). Objetivo. comparar los resultados obtenidos mediante la exploración ecográfica bidimensional (2D) y 3D. Método. estudio prospectivo realizado en 100 gestaciones únicas, que acuden para cribado de aneuploidías entre la 11 y 13,6 semanas. Se practica ecografía 2D vía abdominal por un primer explorador (E1), con estudio anatómico (definido en base a un score anatómico), valoración de TN (según criterios de la Fetal Medicine Foundation) y mapa Doppler color (ductus venoso y vasos umbilicales). El mismo explorador (E1) captura un volumen fetal total 3D vía abdominal, con y sin Doppler color. Los volúmenes 3D se valoran en diferido mediante navegación multiplanar por dos exploradores (E1, E2). Resultados. la medición del CRL pudo hacerse por ambos exploradores en el 100% de los casos en 2D y 3D, sin diferencias significativas entre ambos. La TN pudo valorarse en el 100% de los casos mediante la ecografía 2D, y en el 63 y el 48% mediante ecografía 3D en E1 y E2, respectivamente. Los porcentajes de valoración de la anatomía son inferiores mediante la exploración 3D, aunque alcanza el 90-100% en estructuras como cabeza, tórax, abdomen, estómago y extremidades. No se encuentran diferencias en el tiempo de exploración entre ambas técnicas. Se demuestra que a mayor experiencia del explorador, menor es el tiempo de análisis en diferido, aunque este tiempo se estabiliza a partir de 20 volúmenes analizados (curva de aprendizaje). Conclusión. la obtención de un solo volumen fetal total 3D vía transabdominal entre las 11 y las 13,6 semanas permite una valoración en diferido de la anatomía básica y de la TN, aunque en cifras inferiores al 2D(AU)

Introduction. An evaluation is made of the possibility of assessing foetal anatomy and measuring nuchal translucency (NT) from the deferred study of the volume captured using three-dimensional (3D) ultrasound. Objective. To compare the results obtained by the two-dimensional (2D) and 3D ultrasound examination. Method. A prospective study performed on 100 single pregnancies, who came for aneuploidy screening between 11-13.6 weeks gestation. A 2D abdominal ultrasound was performed by a first examiner (E1), with an anatomical study (defined based on an anatomy score), an NT evaluation (based on criteria of the Foetal Medicine Foundation) and a colour Doppler map (ductus venosus and umbilical vessels. The same examiner (E1) captured a total foetal volume by abdominal 3D, with and without colour Doppler. The 3D volumes were assessed by two examiners (E1 and E2) in deferred mode using multiplanar navigation. Results. Measurement of the crown-rump length (CRL) could be made in 2D and 3D by both examiners in 100% of cases, with no significant differences between them. The NT could be assessed in 100% of cases using 2D ultrasound, and in 63% and 48% of cases using 3D ultrasound by E1 and E2, respectively. The anatomy assessment percentages were lower with 3D, although they reached 90-100% in structures such as the head, thorax, abdomen, stomach and limbs. There were no differences in the examination times between the techniques. It showed that the more experienced the examiner, the lower the time of deferred analysis; although this time was established from 20 volumes analysed (learning curve). Conclusion. The obtaining a single total foetal volume by trans-abdominal 3D ultrasound between 11-13.6 weeks allows an assessment to be made of the basic anatomy and the NT, although in percentages lower than in 2D(AU)