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OBJECTIVES: To assess the risk of intrauterine fetal death (IUFD) and fetal growth restriction (FGR) in fetuses with an isolated fetal intra-abdominal umbilical vein varix (i-FIUVV). METHODS: A retrospective cohort study combined with a systematic review and meta-analysis of the literature was performed. In the retrospective cohort study, all singleton fetuses with an i-FIUVV in the fetal medicine units of the Amsterdam UMC (between 2007 and 2023) were analyzed. The primary outcome measures were IUFD and FGR. The sample proportions of IUFD and FGR were depicted as risk percentages. The IUFD proportion was compared to the regional reference population and the FGR proportion was compared to the reported proportions in Europe. The secondary outcome measures were gestational age at diagnosis, initial and maximal FIUVV diameter, fetal monitoring in pregnancy, turbulent flow in the varix, thrombus formation in the varix, induction of labor, gestational age at birth, and birthweight centile. The proportion of fetuses with a birthweight below the 10th centile was compared with that of the regional reference population. The systematic review included all cases from eligible literature published between 2007 and 2023 supplemented by the data of our retrospective cohort study. In the systematic review and meta-analysis, the pooled proportions of IUFD and FGR were assessed in fetuses with i-FIUVV. RESULTS: The retrospective cohort included 43 singletons with an i-FIUVV. The IUFD risk was 0% [Confidence Interval, CI: 0%-8.2%], which did not differ significantly from 0.3% in the reference population, p = 1.0. The risk of FGR was 16.3% [CI: 6.8%-30.7%] in the studied population, which is higher than the reported incidence of FGR in Europe ranging from 5%-10%. The proportion of fetuses with birthweights below the 10th centile was higher in our cohort compared with the reference population (23.3 vs. 9.9%, p < 0.01). The systematic review included 12 articles, three abstracts, and our current cohort. In total, 513 cases with an i-FIUVV were included. The pooled risk was 0.4% [CI: 0.1%-1.7%] for IUFD and 5.2% [CI: 1.1%-21.3%] for FGR. The mean gestational age at birth did not exceed 39 weeks in neither the cohort (38.7 weeks) nor the pooled literature (37.6 weeks). CONCLUSION: An i-FIUVV in singletons is not associated with an increased IUFD risk up to 39 weeks of gestation but is possibly associated with FGR. The incidence of FGR in our cohort was higher than in the pooled literature (16.3% vs. 5%) but FGR definitions in the included studies varied. The proportion of birthweights below the 10th percentile in our cohort was significantly higher than in the reference group. Thus, based on these findings, we suggest conducting sonographic growth assessments while simultaneously assessing the i-FIUVV. No further monitoring and follow-up are indicated up to 39 weeks of gestation. After 39 weeks of gestation, data on fetuses with i-FIUVV and their outcomes are lacking.
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Muerte Fetal , Retardo del Crecimiento Fetal , Venas Umbilicales , Várices , Adulto , Femenino , Humanos , Embarazo , Estudios de Cohortes , Muerte Fetal/etiología , Retardo del Crecimiento Fetal/epidemiología , Edad Gestacional , Estudios Retrospectivos , Ultrasonografía Prenatal , Venas Umbilicales/diagnóstico por imagen , Várices/epidemiología , Várices/diagnóstico por imagenRESUMEN
INTRODUCTION: The prenatal detection rate of a right aortic arch (RAA) has increased with the implementation of the three-vessel view (3VV) to the second-trimester anomaly scan formed by the pulmonary artery (PA), aorta (Ao), and superior vena cava (SVC). We examined the value of measuring the distance between PA and Ao in the 3VV in cases with an RAA. METHODS: We conducted a case-control study in which fetuses with an isolated RAA were matched to 3 healthy controls. Using 3VV images, the distances between PA, Ao, and SVC were measured and the ratio between PA to Ao (PAAo) distance and Ao to SVC (AoSVC) distance was calculated. RESULTS: Fifty-four RAA cases and 162 matched controls were included. The mean absolute distance PAAo was 3.1 mm in cases and 1.8 mm in controls (p < 0.001), and the mean PAAo/AoSVC ratio was 2.9 and 1.4, respectively (p < 0.001). The ROC curve of PAAo/AoSVC ratio showed a cut-off point of 1.9 with sensitivity and specificity over 87% for the diagnosis of RAA. CONCLUSIONS: The pulmonary-aortic interspace and the PAAo/AoSVC ratio were significantly larger for RAA cases as compared to controls. If an increased pulmonary-aortic interspace is observed, a PAAo/AoSVC of ≥1.9 can be helpful in the diagnosis of an RAA.
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Aorta Torácica , Arteria Pulmonar , Ultrasonografía Prenatal , Humanos , Femenino , Estudios de Casos y Controles , Embarazo , Aorta Torácica/diagnóstico por imagen , Aorta Torácica/embriología , Aorta Torácica/anomalías , Arteria Pulmonar/diagnóstico por imagen , Arteria Pulmonar/embriología , Arteria Pulmonar/anomalías , Ultrasonografía Prenatal/métodos , Adulto , Vena Cava Superior/diagnóstico por imagen , Vena Cava Superior/embriología , Vena Cava Superior/anomalíasRESUMEN
OBJECTIVE: We aimed to assess current prenatal detection rate (DR) of aortic coarctation (CoA) and its impact on neonatal outcome in the Netherlands to evaluate the efficacy of the Dutch screening protocol in which the cardiac four-chamber view, outflow tracts and three-vessel view are compulsory. METHODS: All prenatally and postnatally diagnosed CoA cases between 2012 and 2021 were extracted from our PRECOR-registry. Annual DRs were calculated with a focus on the trend over time and attributing factors for detection. Postnatal outcome was compared between prenatally detected and undetected cases. RESULTS: 49/116 cases (42.2%) were detected prenatally. A higher chance of detection was found for cases with extracardiac malformations (71.4%; p = 0.001) and the more severe cases with an aortic arch hypoplasia and/or ventricular septal defect (63.2%; p = 0.001). Time-trend analysis showed no improvement in DR over time (p = 0.33). Undetected cases presented with acute circulatory shock in 20.9% and were more likely to have severe lactic acidosis (p = 0.02) and impaired cardiac function (p < 0.001) before surgery. CONCLUSION: Even in a well-organized screening program, the DR of CoA still requires improvement, especially in isolated cases. The increased risk of severe lactic acidosis in undetected cases stresses the need for urgent additions to the current screening program, such as implementation of the three-vessel trachea view and measurement of outflow tracts.
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Acidosis Láctica , Coartación Aórtica , Defectos del Tabique Interventricular , Embarazo , Recién Nacido , Femenino , Humanos , Coartación Aórtica/diagnóstico por imagen , Ecocardiografía/métodos , Países Bajos/epidemiología , Ultrasonografía Prenatal/métodos , Estudios RetrospectivosRESUMEN
OBJECTIVES: To determine the proportion of children that require surgery in the first year of life and thereafter in order to improve the counseling of parents with a fetus with a right aortic arch (RAA). METHODS: Fetuses diagnosed with isolated RAA, defined as the absence of intra- or extracardiac anomalies, between 2007 and 2021 were extracted from the prospective registry PRECOR. RESULTS: In total, 110 fetuses were included, 92 with a prenatal diagnosis of RAA and 18 with double aortic arch (DAA). The prevalence of 22q11 deletion syndrome was 5.5%. Six pregnancies were terminated and five cases were false-positive; therefore, the follow-up consisted of 99 neonates. Surgery was performed in 10 infants (10%) in the first year of life. In total, 25 (25%) children had surgery at a mean age of 17 months. Eight of these 25 (32%) had a DAA. Only one child, with a DAA, required surgery in the first week of life due to obstructive stridor. CONCLUSIONS: Children with a prenatally diagnosed RAA are at a low risk of acute respiratory postnatal problems. Delivery in a hospital with neonatal intensive care and pediatric cardiothoracic facilities seems only indicated in cases with suspected DAA. Expectant parents should be informed that presently 25% of the children need elective surgery and only incidentally due to acute respiratory distress.
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Síndromes del Arco Aórtico , Anillo Vascular , Embarazo , Lactante , Recién Nacido , Femenino , Humanos , Niño , Aorta Torácica/diagnóstico por imagen , Aorta Torácica/cirugía , Ultrasonografía Prenatal , Estudios Retrospectivos , Diagnóstico Prenatal , Síndromes del Arco Aórtico/diagnóstico por imagen , Síndromes del Arco Aórtico/cirugíaRESUMEN
OBJECTIVE: Children and adults with talipes equinovarus (TEV) have smaller calves and shorter feet compared to non-affected controls. Do these changes have a prenatal onset? METHODS: A prospective cohort study (January 2020-July 2021) was conducted with serial ultrasonographic measurements at 20 and 28 weeks gestation and measurements directly and 6 weeks after birth. Calf circumference and width, foot length and length of humerus, ulna, radius, femur, tibia and fibula were measured in TEV and were compared to a control population. Calculated sample size necessitated a minimal population of 10 cases with TEV and 50 controls. RESULTS: Twenty cases with TEV and 62 controls were included. Fetal calf circumference (p < 0.001) and width (p < 0.001) were smaller in the TEV group in comparison to the control group, which persisted after birth. Growth in foot length (p < 0.001) and calf width (p 0.003) declined prenatally over time. The bone lengths and upper leg circumference were not smaller or shorter in TEV compared to controls. CONCLUSION: This prospective cohort study demonstrated the prenatal onset of reduced calf and foot size in fetuses with TEV from 20 weeks and onwards, which persists directly after birth. To investigate whether reduction in circumference initiates TEV or is caused by TEV, further examination is needed.
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Pie Equinovaro , Femenino , Humanos , Recién Nacido , Embarazo , Pie Equinovaro/diagnóstico por imagen , Fémur/diagnóstico por imagen , Feto , Edad Gestacional , Estudios Prospectivos , Ultrasonografía PrenatalRESUMEN
The Netherlands launched a nationwide implementation study on non-invasive prenatal testing (NIPT) as a first-tier test offered to all pregnant women. This started on April 1, 2017 as the TRIDENT-2 study, licensed by the Dutch Ministry of Health. In the first year, NIPT was performed in 73,239 pregnancies (42% of all pregnancies), 7,239 (4%) chose first-trimester combined testing, and 54% did not participate. The number of trisomies 21 (239, 0.33%), 18 (49, 0.07%), and 13 (55, 0.08%) found in this study is comparable to earlier studies, but the Positive Predictive Values (PPV)-96% for trisomy 21, 98% for trisomy 18, and 53% for trisomy 13-were higher than expected. Findings other than trisomy 21, 18, or 13 were reported on request of the pregnant women; 78% of women chose to have these reported. The number of additional findings was 207 (0.36%); these included other trisomies (101, 0.18%, PPV 6%, many of the remaining 94% of cases are likely confined placental mosaics and possibly clinically significant), structural chromosomal aberrations (95, 0.16%, PPV 32%,) and complex abnormal profiles indicative of maternal malignancies (11, 0.02%, PPV 64%). The implementation of genome-wide NIPT is under debate because the benefits of detecting other fetal chromosomal aberrations must be balanced against the risks of discordant positives, parental anxiety, and a potential increase in (invasive) diagnostic procedures. Our first-year data, including clinical data and laboratory follow-up data, will fuel this debate. Furthermore, we describe how NIPT can successfully be embedded into a national screening program with a single chain for prenatal care including counseling, testing, and follow-up.
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Síndrome de Down/diagnóstico , Pruebas Genéticas/métodos , Genoma Humano , Implementación de Plan de Salud , Diagnóstico Prenatal/métodos , Síndrome de la Trisomía 13/diagnóstico , Síndrome de la Trisomía 18/diagnóstico , Adolescente , Adulto , Aberraciones Cromosómicas , Síndrome de Down/epidemiología , Síndrome de Down/genética , Femenino , Estudios de Seguimiento , Humanos , Persona de Mediana Edad , Países Bajos/epidemiología , Embarazo , Primer Trimestre del Embarazo , Pronóstico , Síndrome de la Trisomía 13/epidemiología , Síndrome de la Trisomía 13/genética , Síndrome de la Trisomía 18/epidemiología , Síndrome de la Trisomía 18/genética , Adulto JovenRESUMEN
OBJECTIVE: We aimed to evaluate the additional value of advanced fetal anatomical assessment by ultrasound in pregnancies with twice inconclusive noninvasive testing (NIPT) due to low fetal fraction (FF). METHODS: We performed a multicenter-retrospective study between 2017 and 2020 including 311 pregnancies with twice inconclusive NIPT due to low FF ≤ 1%. Women were offered invasive testing and advanced fetal anatomical assessment at ≤18 weeks' gestation. Ultrasound findings, genetic testing, and pregnancy/postnatal outcomes were evaluated. RESULTS: Ninety-two/311 (29.6%) women underwent invasive testing. Structural anomalies were diagnosed in 13/311 (4.2%) pregnancies (nine at the first scan and four at follow-up). In 6/13 (46.2%) cases, genetic aberrations were confirmed (one case of Trisomy 13 (detectable by NIPT), two of Triploidy, one of 16q12-deletion, HCN4-mutation and UPD(16) (nondetectable by NIPT). Genetic aberrations were found in 4/298 (1.3%) structurallynormal pregnancies (one 47XYY, two microscopic aberrations, one monogenic disorder found postpartum). Structural anomalies in genetically normal fetuses (2.0%) were not more prevalent compared to the general pregnant population (OR 1.0 [0.4-2.2]). CONCLUSION: In pregnancies with twice inconclusive NIPT due to low FF, fetal structural anomalies are not more prevalent than in the general obstetric population. The detailed anatomical assessment has the added value to detect phenotypical features suggestive of chromosomal/genetic aberrations and identify pregnancies where advanced genetic testing may be indicated.
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Ácidos Nucleicos Libres de Células , Aberraciones Cromosómicas , Femenino , Humanos , Canales Regulados por Nucleótidos Cíclicos Activados por Hiperpolarización/genética , Masculino , Embarazo , Primer Trimestre del Embarazo , Diagnóstico Prenatal , Estudios Retrospectivos , Trisomía/diagnóstico , Trisomía/genética , Ultrasonografía , Ultrasonografía PrenatalRESUMEN
OBJECTIVES: In this era of non-invasive-prenatal testing (NIPT), when dating scans are usually performed around 10 weeks of gestation, an increased NT before the official established timeframe (CRL between 45 and 84 mm) may be encountered. Information on management of these pregnancies is limited. Therefore, we evaluated the relationship between an early increased NT and adverse pregnancy outcome. Secondary, we evaluated the rate of chromosomal anomalies that might have been missed in first trimester should solely NIPT be performed as first-tier test, and the rate of adverse pregnancy outcome if NT normalizes before 14 weeks. METHODS: We performed a retrospective cohort study that included all pregnancies between January 1, 2007 and June 1, 2020 in Amsterdam UMC locations AMC and VUmc. We included fetuses with a crown-rump length (CRL) < 45 mm (â¼11 weeks) and a nuchal translucency (NT) measurement ≥2.5 mm. Fetuses referred with an early increased NT and a major fetal anomaly at the dating scan were excluded, as were cases of parents with a family history of monogenetic disease(s) or recognized carriers of a balanced translocation. RESULTS: We included 120 fetuses of which 66.7% (80/120) had an adverse pregnancy outcome. Congenital anomalies were present in 56.7% (68/120), 45.8% (55/120) had a chromosomal anomaly. The prevalence of congenital anomalies was 30.3% in fetuses with NT 2.5-3.4 mm compared to 66.7% with NT ≥ 3.5 mm (p < 0.001). 16.7% (20/120) had a chromosomal anomaly that might have been missed by conventional NIPT in first trimester. We found an adverse pregnancy outcome of 24% in the group with a normalized NT compared to 78.1% in the group with a persistently increased NT (p < 0.001). CONCLUSION: An early increased NT should make the sonographer alert. In this selected cohort, an early increased NT was associated with a high probability of having an adverse pregnancy outcome. Regardless of CRL, we deem that an early increased NT ≥ 3.5 mm warrants referral to a Fetal Medicine Unit for an extensive work-up. NT normalization seems favorable, but a prospective study should define the appropriate work-up for NT in the lower range (2.5-3.4 mm).
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Edad Gestacional , Medida de Translucencia Nucal/clasificación , Derivación y Consulta/normas , Adulto , Estudios de Cohortes , Femenino , Humanos , Medida de Translucencia Nucal/estadística & datos numéricos , Embarazo , Resultado del Embarazo/epidemiología , Estudios Prospectivos , Derivación y Consulta/estadística & datos numéricos , Estudios Retrospectivos , Ultrasonografía Prenatal/métodosRESUMEN
OBJECTIVE: The limited number of large fetal cohort studies on common arterial trunk (CAT) impedes prenatal counseling at midgestation. This study evaluates the prognosis of CAT from a fetal perspective. METHOD: Fetuses with a prenatally diagnosed CAT were extracted from the PRECOR registry (2002-2016). We evaluated fetal and postnatal survival and the presence of additional morbidity at last follow-up. Literature databases were searches systematically for additional cases. RESULTS: Thirty-eight cases with a prenatal diagnosis of CAT were identified in our registry, of which 18/38 (47%) opted for pregnancy termination (TOP). Two cases resulted in spontaneous intrauterine demise (10%, 2/20), six cases demised postnatally (33%, 6/18), leaving 60% (12/20) alive, after exclusion of TOP, at a mean age of six (range: 2-10 years). Additional morbidity was found in 42% (5/12) of survivors, including 22q11.2 deletion syndrome, Adams-Oliver syndrome and intestinal atresia, whereas 8% (1/12) had developmental delay. The remaining 30% (6/12) of survivors appeared isolated with normal development. All of whom six required replacement of the initial right ventricle to pulmonary artery conduit. Additionally, we reviewed 197 literature cases on short-term outcome. CONCLUSION: The risk of fetal and neonatal demise, as well as significant morbidity amongst survivors, should be included in prenatal counseling for CAT.
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Cardiopatías Congénitas/diagnóstico , Adulto , Estudios de Cohortes , Ecocardiografía/métodos , Femenino , Feto/anomalías , Cardiopatías Congénitas/complicaciones , Cardiopatías Congénitas/epidemiología , Humanos , Recién Nacido , Países Bajos/epidemiología , Embarazo , Atención Prenatal/métodos , Pronóstico , Estudios RetrospectivosRESUMEN
INTRODUCTION: The majority of arthrogryposis multiplex congenita (AMC) and lethal forms of AMC such as foetal akinesia deformation sequence (FADS) cases are missed prenatally. We have demonstrated the additional value of foetal motor assessment and evaluation in a multidisciplinary team for the period 2007-2016. An applied care pathway was developed for foetuses presenting with joint contracture(s) in one anatomic region (e.g., talipes equinovarus [TEV]), more than one body part with non-progressive contractures and motility (AMC) and with deterioration over time (FADS). METHODS: The multidisciplinary team of Amsterdam University Medical Centre Expertise Centre FADS and AMC developed the care pathway. Additional tools are provided including a motor assessment by ultrasound examination and a post-mortem assessment form. RESULTS: An eight-step care pathway is presented with a proposed timing for prenatal sonographic examination, genetic examinations, multidisciplinary meetings, prenatal and postnatal counselling of the parents by a specialist also treating after birth, and the follow-up of prenatal and postnatal findings with counselling for future pregnancies. DISCUSSION/CONCLUSION: The scheduled serial structural and motor sonograpahic assessment together with follow-up examinations and genetic analysis should be tailored per prenatal centre per available resources. The multidisciplinary care pathway may pave the way to increase the detection rate and diagnosis of isolated contracture(s), TEV with underlying genetic causes, and the rare phenotypes AMC/FADS and prompt treatment after birth within expertise teams.
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Artrogriposis , Contractura , Artrogriposis/diagnóstico por imagen , Artrogriposis/genética , Contractura/diagnóstico por imagen , Contractura/genética , Vías Clínicas , Femenino , Feto , Humanos , EmbarazoRESUMEN
PURPOSE: Congenital heart defects (CHD) are associated with genetic syndromes. Rapid aneuploidy testing and chromosome microarray analysis (CMA) are standard care in fetal CHD. Many genetic syndromes remain undetected with these tests. This cohort study aims to estimate the frequency of causal genetic variants, in particular structural chromosome abnormalities and sequence variants, in fetuses with severe CHD at mid-gestation, to aid prenatal counselling. METHODS: Fetuses with severe CHD were extracted from the PRECOR registry (2012-2016). We evaluated pre- and postnatal genetic testing results retrospectively to estimate the frequency of genetic diagnoses in general, as well as for specific CHDs. RESULTS: 919 fetuses with severe CHD were identified. After exclusion of 211 cases with aneuploidy, a genetic diagnosis was found in 15.7% (111/708). These comprised copy number variants in 9.9% (70/708). In 4.5% (41/708) sequence variants were found that would have remained undetected with CMA. Interrupted aortic arch, pulmonary atresia with ventricular septal defect and atrioventricular septal defect were most commonly associated with a genetic diagnosis. CONCLUSION: In case of normal CMA results, parents should be offered exome sequencing sequentially, if time allows for it, especially if the CHD is accompanied by other structural malformations due to the large variety in genetic syndromes.
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Cardiopatías Congénitas , Estudios de Cohortes , Femenino , Feto , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/epidemiología , Cardiopatías Congénitas/genética , Humanos , Embarazo , Diagnóstico Prenatal , Prevalencia , Estudios RetrospectivosRESUMEN
OBJECTIVES: The aim of this study was to analyze the annual detection rate (DR) of transposition of the great arteries (TGA) and tetrology of Fallot (ToF), after the introduction of the three-vessel view as a mandatory plane in 2012. METHODS: All registered TGA and ToF cases were retrospectively extracted from our registry between 2007 and 2016. We compared the DR in a 10-year period, before 2011, with the DR of TGA and ToF after 2012. RESULTS: In the period before 2012, 23 of the 52 TGA cases were prenatally detected (44.2%), compared with 42 of the 51 cases (82.4%) after 2012. For ToF, the DRs increased from 28 of 64 cases (43.8%) to 42 of 62 cases (67.7%) in the aforementioned periods. The increase in DRs for both defects was statistically significant (P ≤ 0.001 and P ≤ 0.05). CONCLUSIONS: In this nationally organized prenatal screening program with a quality monitoring system and a uniform protocol, DRs of 82.4% for TGA and 67.7% for ToF were reached after the introduction of the three-vessel view as a mandatory item. The three-vessel view significantly contributes to the detection of these conotruncal anomalies.
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Ecocardiografía/métodos , Enfermedades Fetales/diagnóstico por imagen , Tetralogía de Fallot/diagnóstico por imagen , Transposición de los Grandes Vasos/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Protocolos Clínicos , Femenino , Humanos , Recién Nacido , Masculino , Países Bajos/epidemiología , Embarazo , Diagnóstico Prenatal/estadística & datos numéricos , Sistema de Registros/estadística & datos numéricosRESUMEN
BACKGROUND: The aim of the study was to assess the screening performance of first trimester maternal serum measurements of A-disintegrin-and-metalloprotease 12-s (ADAM12s) and placental protein 13 (PP13) for preeclampsia (PE), gestational hypertension (GH) and small-for-gestational-age (SGA) fetuses. METHODS: In this retrospective case-control study 220 pregnant women were matched for gestational and maternal age at sampling. Results were expressed as multiples of the median (MoM) and compared using Kruskal-Wallis and Mann-Whitney U-test. Screening performance was assessed by receiver operator characteristics (ROC) curves and area under the curve (AUC). RESULTS: Seventeen cases of PE, 30 cases of GH and eight cases of SGA fetuses were matched with 165 controls. ROC-analysis yielded AUCs for ADAM12s and PP13 of 0.63 and 0.59 for PE, 0.68 and 0.57 for GH and 0.59 and 0.62 for SGA, respectively. Combined ADAM12 and PP13 did not improve the AUC value. When the specificity was set at 80%, corresponding detection rate of ADAM12s was 52% for GH. CONCLUSIONS: Combined ADAM12s and PP13 measurements do not predict adverse pregnancy outcome, but decreased first trimester ADAM12s levels are associated with GH.
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Proteínas ADAM/sangre , Galectinas/sangre , Proteínas de la Membrana/sangre , Proteínas Gestacionales/sangre , Proteína ADAM12 , Adulto , Biomarcadores/sangre , Estudios de Casos y Controles , Femenino , Humanos , Recién Nacido Pequeño para la Edad Gestacional/sangre , Placenta/metabolismo , Embarazo , Resultado del Embarazo , Proteínas Gestacionales/metabolismo , Estudios Retrospectivos , Adulto JovenRESUMEN
BACKGROUND: Congenital heart defects are the most common congenital anomaly. Despite the increasing survival of these children, there is still an increased incidence of fetal demise, frequently attributed to cardiac failure. Considering that abnormal placental development has been described in congenital heart disease, our hypothesis is that placental insufficiency may contribute to fetal death in congenital heart disease. OBJECTIVE: This study aimed to assess cases with fetal congenital heart disease and intrauterine demise, and analyze factors that are related to the demise. STUDY DESIGN: All congenital heart disease cases diagnosed prenatally during the period January 2002 to January 2021 were selected from the regional prospective congenital heart disease registry, PRECOR. Multiple pregnancies and pregnancies with fetal trisomy 13 or 18, triploidy, and Turner's syndrome were excluded from the analysis, because fetal demise is attributed to the chromosomal abnormality in these cases. Cases were categorized into 4 groups based on the possible cause of fetal death as follows: cardiac failure, additional (genetic) diagnosis, placental insufficiency, and a group in which no cause was found. A separate analysis was performed for isolated congenital heart disease cases. RESULTS: Of the 4806 cases in the PRECOR registry, 112 had fetal demise, of which 43 were excluded from the analysis (13 multiple pregnancies, 30 genetic). Of these, 47.8% were most likely related to cardiac failure, 42.0% to another (genetic) diagnosis, and 10.1% to placental insufficiency. No cases were allocated to the group with an unknown cause. Only 47.8% of the cases had isolated congenital heart disease, and in this group 21.2% was most likely related to placental insufficiency. CONCLUSION: This study shows that in addition to cardiac failure and other (genetic) diagnoses, placental factors play an important role in fetal demise in congenital heart disease, especially in cases of isolated heart defects. Therefore, these findings support the importance of regular ultrasonographic assessment of fetal growth and placental function in fetal congenital heart disease.
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Enfermedades Fetales , Cardiopatías Congénitas , Insuficiencia Cardíaca , Insuficiencia Placentaria , Niño , Embarazo , Femenino , Humanos , Insuficiencia Placentaria/epidemiología , Placenta , Estudios Prospectivos , Muerte Fetal/etiología , Cardiopatías Congénitas/diagnóstico por imagen , Cardiopatías Congénitas/epidemiologíaRESUMEN
OBJECTIVE: Routine obstetric ultrasound increasingly leads to the detection of structural fetal anomalies. In twin pregnancies with one anomalous twin, counseling on management strategies is complicated. PATIENTS AND METHODS: Twin pregnancies (n = 212) were referred to a tertiary center between January 2007 and July 2009. In a retrospective analysis, twins discordant for a structural fetal anomaly were compared to twins without anomalies in the prenatal ultrasound. Outcome parameters were survival and gestational age at birth. RESULTS: Anomalies were seen in at least one fetus of 30 twin pairs. The two pregnancies in which the anomalies were concordant were terminated. Selective feticide was performed in three cases of major but non-lethal anomalies in dichorionic twins. The remaining 25 cases were managed expectantly. In three of these cases, spontaneous fetal demise of the affected fetus was observed. In five cases with major (lethal) anomalies, the pregnant women and their partners opted for non-intervention comfort care after birth for the affected fetus. Median gestational age at delivery was 257 days for twins without structural anomalies and was 254 days (n = 22) for twins with one anomalous fetus. This was not significantly different (Mann Whitney U, p = .69). Again, no difference was found for median gestational age at delivery in normal vs. discordant anomalous dichorionic twins if subdivided for chorionicity (Mann Whitney U, p = .68). CONCLUSION: In this cohort we describe the request for expectant management by pregnant women and their partners of those twins discordant for major (lethal) anomalies. Expectant management was not associated with increased risk of premature delivery. Fetocide was only opted for in a small number of cases with severe but non-lethal anomalies in dichorionic twins.
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Anomalías Congénitas/diagnóstico por imagen , Enfermedades en Gemelos/diagnóstico por imagen , Adulto , Femenino , Feto , Edad Gestacional , Humanos , Embarazo , Resultado del Embarazo , Reducción de Embarazo Multifetal , Estudios Retrospectivos , Ultrasonografía PrenatalRESUMEN
BACKGROUND: Massive perivillous fibrin deposition (MPFD) is associated with adverse pregnancy outcomes and is mainly caused by maternal factors with limited involvement of fetal or genetic causes. We present one consanguineous couple with six fetuses developing Fetal Akinesia Deformation Sequence (FADS) and MPFD, with a possible underlying genetic cause. This prompted a literature review on prevalence of FADS and MPFD. METHODS: Fetal ultrasound examination, motor assessment, genetic testing, postmortem examination, and placenta histology are presented (2009-2019). Literature was reviewed for the association between congenital anomalies and MPFD. RESULTS: All six fetuses developed normally during the first trimester. Thereafter, growth restriction, persistent flexed position, abnormal motility, and contractures in 4/6, consistent with FADS occurred. All placentas showed histologically confirmed MPFD. Genetic analyses in the five available cases showed homozygosity for two variants of unknown significance in two genes, VARS1 (OMIM*192150) and ABCF1 (OMIM*603429). Both parents are heterozygous for these variants. From 63/1999 manuscripts, 403 fetal outcomes were mobilized. In 14/403 fetuses, congenital abnormalities in association with MPFD were seen of which two fetuses with contractures/FADS facial anomalies. CONCLUSION: The low prevalence of fetal contractures/FADS facial anomalies in association with MPFD in the literature review supports the possible fetal or genetic contribution causing FADS and MPFD in our family. This study with literature review supports the finding that fetal, fetoplacental, and/or genetic components may play a role in causing a part of MPFDs.
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Muerte Fetal , Fibrina , Transportadoras de Casetes de Unión a ATP , Artrogriposis , Consanguinidad , Femenino , Muerte Fetal/etiología , Feto/diagnóstico por imagen , Feto/metabolismo , Fibrina/metabolismo , Humanos , EmbarazoRESUMEN
OBJECTIVE: Discordance in nuchal translucency measurements in monochorionic diamniotic twin pregnancies was assessed as predictor of Twin-to-Twin Transfusion Syndrome. STUDY DESIGN: A total of 61 monochorionic diamniotic twins were enrolled. Nuchal translucency (NT) and crown-rump-length (CRL) discordance was calculated as the percentage of delta NT and CRL (absolute difference NT/CRL fetus 1 and fetus 2) of the largest measurement, and correlated with subsequent development of Twin-to-Twin Transfusion Syndrome. RESULTS: Twin-to-Twin Transfusion Syndrome developed in 14/61 (23%) of cases. A NT discordance of 20% or more best predicted Twin-to-Twin Transfusion Syndrome development, with a sensitivity of 64% and a specificity of 78%. We found a positive predictive value of 50% and negative predicted value of 86% for Twin-to-Twin Transfusion Syndrome development if NT discordance was 20% or more. CONCLUSION: NT discordance of more than 20% in monochorionic diamniotic twins is associated with an increased risk for subsequent development of Twin-to-Twin Transfusion Syndrome, and with earlier presentation of symptoms.
Asunto(s)
Transfusión Feto-Fetal/diagnóstico por imagen , Medida de Translucencia Nucal , Gemelos , Adulto , Femenino , Transfusión Feto-Fetal/diagnóstico , Humanos , Masculino , Valor Predictivo de las Pruebas , EmbarazoRESUMEN
OBJECTIVE: To evaluate the inter- and intraobserver agreement for measurement of the size and volume of a niche and assessment of the shape, with the use of three-dimensional (3D) ultrasound. STUDY DESIGN: In this reproducibility study, 20 3D ultrasound volumes of uteri with a niche were selected, based on complete visualisation of the uterus and niche in both the longitudinal and transversal plane. Niche measurements were performed off-line twice by one observer and once by another observer. Niche measurements and assessment of shape were performed in the longitudinal and transversal plane, and niche volume in the longitudinal plane. The mean difference, 95% limits of agreement, the intraclass correlation coefficient (ICC) and Cohen's kappa were calculated to assess the inter- and intraobserver agreement. RESULTS: The interobserver agreement was excellent for all niche measurements (ICC >0.86), including depth and residual myometrial thickness (RMT), except for width at niche base in the transversal plane (ICC 0.74) and niche volume (ICC 0.79), which were classified as good agreement. Wide limits of agreement and a high mean difference were found for maximal width in the transversal plane. The intraobserver agreement was excellent for all measurements (ICC >0.80), except for RMT in the longitudinal and transversal plane, which were classified as good agreement (ICC 0.73 and 0.62, respectively). Wide limits of agreement were found for maximal width and width at niche base in the transversal plane. The overall agreement in the transversal plane was lower than in the longitudinal plane, but still all in the range of good agreement. The inter- and intraobserver agreement was good to poor for the assessment of niche shape. CONCLUSION: Using 3D ultrasound, various niche parameters, including depth (both perpendicular to niche base and maximal depth), maximal width, width at niche base, RMT and volume, can be measured with a high level of agreement, in particular if measured in the longitudinal plane.
Asunto(s)
Cicatriz/diagnóstico por imagen , Imagenología Tridimensional , Útero/diagnóstico por imagen , Cesárea/efectos adversos , Cicatriz/etiología , Femenino , Humanos , Miometrio/diagnóstico por imagen , Variaciones Dependientes del Observador , Reproducibilidad de los Resultados , UltrasonografíaRESUMEN
BACKGROUND: The VU University Medical Center (VUmc) was the first hospital in the Netherlands to introduce the Delfia Xpress for the analysis of free beta-human chorionic gonadotrophin (beta-hCG) and pregnancy associated plasma protein-A (PAPP-A) in the first trimester screening program for Down syndrome. Since then, others have implemented this system. In this study, we tested the equality of measurements for free beta-hCG and PAPP-A between Delfia Xpress systems and one AutoDelfia system. METHODS: A total of 40 serum samples were aliquoted and stored at -20 degrees C. Samples were analyzed by six Delfia Xpress systems and one AutoDelfia system over a time period of 2 years. RESULTS: The relationships between free beta-hCG and PAPP-A were excellent for the different Delfia Xpress systems (r>0.99, p<0.0001). For PAPP-A, the agreement between the main system at VUmc and five other systems was linear with slopes between 0.99 and 1.06. Similarly, agreement for free beta-hCG was linear with slopes between 0.99 and 1.09. Likewise, agreement for PAPP-A and free beta-hCG was excellent for the AutoDelfia vs. the main Delfia Xpress at the VUmc (r>0.99, p<0.0001). For both PAPP-A and free beta-hCG, the relationships were linear with slopes of 1.08 and 1.07. CONCLUSIONS: We demonstrate an excellent agreement for the analysis of PAPP-A and free beta-hCG between Delfia Xpress systems and one AutoDelfia system.