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Introduction Pre-eclampsia (PE) is a common diagnosis in pregnancy and affects pregnancies worldwide. Early-onset PE often leads to severe maternal and fetal complications. Prophylactic use of aspirin (150 mg/day) before the 16th week of pregnancy can reduce the risk of PE. This study aimed to investigate the effects of maternal factors on the development of uteroplacental perfusion and fetal biometry from the first to the second trimester in a risk group receiving aspirin prophylaxis compared to a control group without Aspirin. Methods This case-control study included 448 women at high risk for PE (risk group, RG) receiving aspirin prophylaxis and 468 women at low PE risk without aspirin intake (control group, CG). Parameters recorded and considered in the first (T1) and second (T2) trimesters included uterine artery pulsatility multiple of the median (UtAPI MoM), notching at T1 and T2 and fetal biometry parameters at T2. Maternal factors were also captured, and their respective effects were examined. Results UtAPI MoM at T1 and T2 showed a significant positive correlation (r = 0.39, p < 0.001), with UtAPI MoM at T2 significantly higher for notching "yes" at T1. Pre-existing arterial hypertension and UtAPI development demonstrated a significant association (p = 0.006). Women without this risk factor showed a significantly (p < 0.001) greater decline in UtAPI development. The likelihood of notching "yes" at T2 (p < 0.001; OR: 5.80) was increased with higher UtAPI MoM at T1. The mean values (T1 and T2) of UtAPI MoM were significantly higher in the risk group than in the control group. Patients in the risk group exhibited notching at T2 (p < 0.001; OR: 5.64) more often compared to the control group. The 95% CI of the estimated fetal weight for notching "yes" at T1 was below the 50th percentile. Gestational age and head circumference/abdomen circumference (HC/AC) ratio showed a significant negative correlation (p < 0.001; b = -0.01). The control group showed significantly higher estimated fetal weights than the risk group. The HC/AC ratio in the risk group was above the HC/AC ratio in the control group but without proving significance. Conclusions Persistent notching and elevated UtAPI MoM levels in the second trimester may be risk factors for early-onset PE. Women with pre-existing arterial hypertension, notching and elevated UtAPI MoM values ââin the first and second trimesters require special monitoring during the course of pregnancy.
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Background: This study assesses the effects of the 'Radiant' image enhancement technique on fetal nuchal translucency (NT) measurements during first-trimester sonographic exams. Methods: A retrospective analysis of 263 ultrasound images of first-trimester midsagittal sections was conducted. NT measurements were obtained using a semi-automatic tool. Statistical methods were applied to compare NT measurements with and without 'Radiant' enhancement. An in vitro setup with predefined line distances provided additional data. Results: Incremental increases in NT measurements were observed with varying levels of 'Radiant' application: an average increase of 0.19 mm with 'Radiant min', 0.24 mm with 'Radiant mid', and 0.30 mm with 'Radiant max.' The in vitro results supported these findings, showing consistent effects on line thickness and measurement accuracy, with the smallest mean deviation occurring at the 'Radiant mid' setting. Conclusions: 'Radiant' image enhancement leads to significant increases in NT measurements. To avoid systematic biases in clinical assessments, it is advisable to disable 'Radiant' during NT measurement procedures. Further studies are necessary to corroborate these findings and to consider updates to the NT reference tables based on this technology.
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PURPOSE: Ductus venosus (DV) Doppler velocimetry reflects fetal cardiac function. Gestational diabetes mellitus (GDM) is assumed to impair cardiac function due to fetal hyperglycemia. The purpose of this study was to assess the ability of DV Doppler to predict an adverse perinatal outcome (APO) in term pregnancies with GDM. METHODS: This is a retrospective cohort study including GDM pregnancies of singleton, non-anomalous fetuses without any signs of placental dysfunction. All GDM women who primarily had a vaginal delivery attempt and in which DV Doppler was examined from 37+0 weeks on were included. Receiver operating characteristic curve (ROC) analyses were performed to assess the predictive value of DV pulsatility index (DV-PI) regarding a composite APO (CAPO). Furthermore, a subgroup analysis was performed regarding the presence of a large-for-gestational-age (LGA) newborn. RESULTS: A total of n=89 cases were included. Overall, CAPO occurred in 26 out of 89 cases (29.2%). All DV Doppler examinations showed a positive A wave. DV-PI was>95th percentile in 8 out of 89 cases (9%). Overall, ROC analysis showed no significant association of DV-PI with CAPO (AUC=0.523, p=0.735). However, regarding individual APO parameters, ROC analysis showed a significant association of DV-PI with 5th-min AGPAR (AUC=0.960, p=0.027), which was not confirmed after exclusion of LGA cases. CONCLUSION: In GDM pregnancies at term, DV Doppler sonography seems to have no benefit for APO prediction.
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Diabetes Gestacional , Resultado del Embarazo , Ultrasonografía Doppler , Ultrasonografía Prenatal , Humanos , Femenino , Embarazo , Diabetes Gestacional/diagnóstico por imagen , Adulto , Estudios Retrospectivos , Sensibilidad y Especificidad , Recién Nacido , Reproducibilidad de los Resultados , Estudios de Cohortes , PronósticoRESUMEN
OBJECTIVE: Criss-cross heart (CCH) is a rare congenital cardiac defect defined by crossing of ventricular inflow streams contributing to less than 0.1â% of all congenital heart anomalies. Due to its rarity and complexity, prenatal diagnosis in these patients remains challenging. We sought to describe prenatal findings and postnatal course in eight cases of prenatally diagnosed CCH. METHODS: This is a retrospective case series of prenatally diagnosed CCH in three centers between 2010-2017. We reviewed fetal echocardiograms as well as postnatal clinical charts and surgical reports. RESULTS: 8 cases of CCH were included. The median gestational age at diagnosis was 27 weeks. 7 patients were found with situs solitus, one fetus with situs ambiguous. In all patients, the four-chamber view was abnormal. There was atrioventricular discordance in half of the patients, while all patients showed ventriculoarterial discordance. All patients were found with additional cardiac anomalies, including ventricular septal defect, double outlet right ventricle, right aortic arch, atrial septal defect and pulmonary stenosis. Three patients underwent amniocentesis without pathological findings. All patients were born alive at a median gestational age of 38â+â2 weeks and survived our median follow-up of 181 days. CONCLUSION: CCH can be diagnosed prenatally by detailed fetal echocardiography when observing an abnormal four-chamber view with crossing of inflow streams into both ventricles and a lack of parallel orientation of the atrioventricular valve axis due to a clockwise or counterclockwise rotation of the ventricular mass along its axis. With the help of prenatal ultrasound, parental guidance and counselling as well as postnatal pediatric cardiac management can be warranted.
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Corazón con Ventrículos Entrecruzados , Ventrículo Derecho con Doble Salida , Cardiopatías Congénitas , Defectos del Tabique Interventricular , Femenino , Humanos , Embarazo , Niño , Lactante , Corazón con Ventrículos Entrecruzados/diagnóstico por imagen , Estudios Retrospectivos , Ventrículo Derecho con Doble Salida/cirugía , Diagnóstico Prenatal , Ultrasonografía Prenatal , Cardiopatías Congénitas/diagnóstico por imagen , Estudios Multicéntricos como AsuntoRESUMEN
OBJECTIVES: To analyse prenatal parameters predicting biventricular (BV) outcome in pulmonary atresia with intact ventricular septum/critical pulmonary stenosis (PAIVS/CPS). METHODS: We evaluated 82 foetuses from 01/08 to 10/18 in 3 centres in intervals 1 (< 24 weeks), 2 (24-30 weeks) and 3 (> 30 weeks). RESULTS: 61/82 (74.4%) were livebirths, 5 (8.2%) lost for follow-up, 3 (4.9%) had compassionate care leaving 53 (64.6% of the whole cohort and 86.9% of livebirths) with intention to treat. 9 died, 44/53 (83.0%) survived. 24/38 (63.2%) with information on postnatal outcome had BV outcome, 14 (36.8%) non-BV outcome (2 × 1.5 circulation). One with BV outcome had prenatal valvuloplasty. Best single parameter for BV outcome was tricuspid/mitral valve (TV/MV) ratio (AUC 0.93) in intervals 2 and 3 (AUC 0.92). Ventriculo-coronary-arterial communications (VCAC) were present in 11 (78.6%) in non-BV outcome group vs. 2 (8.3%) in BV outcome group (p < 0.001). Tricuspid insufficiency (TI)-Vmax > 2.5 m/s was present in BV outcome group in75.0% (18/24) vs. 14.3% (2/14) in non-BV outcome group. Including the most predictive markers (VCAC presence, TI- Vmax < 2.5 m/s, TV/MV ratio < cutoff) to a score, non-BV outcome was correctly predicted when > 1 criterion was fulfilled in all cases. After recently published criteria for foetal intervention, only 4/9 (44.4%) and 5/14 (35.7%) in our interval 2 + 3 with predicted non-BV outcome would have been candidates for intervention. Two (1 × intrauterine intervention) in interval 2, two in interval 3 reached BV outcome and one 1.5 circulation without intervention. CONCLUSION: TV/MV ratio as simple parameter has high predictive value. After our score, non-BV outcome was correctly predicted in all cases. Criteria for foetal intervention must further be evaluated.
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Cardiopatías Congénitas/diagnóstico por imagen , Atresia Pulmonar/diagnóstico por imagen , Estenosis de la Válvula Pulmonar/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Ecocardiografía , Femenino , Humanos , Masculino , Embarazo , Resultado del Embarazo , Diagnóstico Prenatal , Atresia Pulmonar/cirugía , Estenosis de la Válvula Pulmonar/congénito , Resultado del TratamientoRESUMEN
OBJECTIVE: Congenital corrected transposition of the great arteries (ccTGA) is a rare congenital cardiac anomaly which remains difficult to diagnose prenatally. We aim to investigate the natural history, associated anomalies and the outcome of patients in prenatally diagnosed ccTGA. METHOD: This was an international multicenter retrospective analysis of fetuses with a diagnosis of ccTGA from 2002 to 2017. We reviewed clinical and echocardiographic databases of seven centers. Anatomic survey and fetal echocardiography were performed according to international guidelines of ISUOG. RESULTS: We considered 69 fetuses with prenatally suspected ccTGA. There was an overall survival rate of 91â% among 54 patients with a confirmed diagnosis. Survival to live birth was 96â% (52/54) and survival on an intention-to-treat basis was 94â% (49/52). The mean gestational age at the time of diagnosis was 25.6â±â5.9 weeks of gestation. In 7 out of 54 fetuses (13â%), ccTGA was an isolated finding. Dextro/mesocardia was present in 15 cases (27.8â%). Intracardiac anomalies were present in 46/54 cases (85.2â%) with the most frequent anomaly being a ventricular septal defect present in 41 fetuses (75.9â%). Complete heart block was diagnosed in 10 cases (18.5â%). Extracardiac anomalies were observed in 9 out of 54 cases (16.7â%). Prenatal karyotyping of the fetus was available in 30/54 (55.6â%) cases with chromosomal anomalies in 4/30 (13.3â%). CONCLUSION: ccTGA is a rare cardiac anomaly often accompanied by a variable spectrum of further intracardiac abnormalities. Accurate diagnosis of ccTGA, which can be integrated into parental counselling, is feasible with a favorable short-term outcome for affected neonates.
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Cardiopatías Congénitas , Transposición de los Grandes Vasos , Arterias , Femenino , Humanos , Recién Nacido , Embarazo , Diagnóstico Prenatal , Estudios Retrospectivos , Transposición de los Grandes Vasos/diagnóstico por imagen , Ultrasonografía PrenatalRESUMEN
OBJECTIVE: Micrognathia in connection with glossoptosis (called Robin sequence) may lead to life-threatening respiratory problems immediately after birth. An objective detection during prenatal routine ultrasound sonography is possible using an index that relates fetal lower jaw length to femur length or gestational age. The aim of this study was to test the method's sensitivity and specificity and to discuss its predictive power concerning neonatal respiratory insufficiency. DESIGN: Patients with subjectively identified suspicious signs in the sagittal profile view were included in the study: Two-dimensional serial ultrasound scans of their fetal mandible were used to measure the lower jaw lengths and compare them to predicted values according to an index, derived from 313 healthy fetuses. Follow-up data provided additional information on the clinical appearance of the newborns. RESULTS: The index showed a high sensitivity: 15 of the 16 cases with a micrognathia were correctly diagnosed (sensitivity of 93.75%). Follow-up data showed that newborns with similar index values differed in terms of their upper airway obstruction and treatment need. CONCLUSION: Fetal mandibular micrognathia can be objectively evaluated with the help of the index. The method allows an early detection of micrognathia, which helps to take the necessary steps for proper treatment of potential life-threatening respiratory impairment. Observations ranging outside the prediction interval could prompt the ultrasonographer to check for other associated malformations.
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Obstrucción de las Vías Aéreas , Glosoptosis , Micrognatismo , Síndrome de Pierre Robin , Femenino , Humanos , Recién Nacido , Mandíbula/diagnóstico por imagen , Micrognatismo/diagnóstico por imagen , Síndrome de Pierre Robin/diagnóstico por imagen , Embarazo , Diagnóstico PrenatalRESUMEN
PURPOSE: The aim of our retrospective evaluation was to compare the outcome of patients with prenatal and postnatal diagnosis of Tetralogy of Fallot (TOF) and to analyze prenatal echocardiographic parameters predicting intervention within 30 days postnatal. MATERIALS AND METHODS: We evaluated 142 patients in our pediatric heart center and prenatal diagnosis center and prenatal practice Praenatal plus in Cologne between 01/08-06/16. RESULTS: Within the prenatal diagnosis group, 6/74 fetuses (8.1â%) had TOF with pulmonary atresia (TOF-PA), and 6 (8.1â%) had absent pulmonary valve syndrome (TOF-APVS). 14 (18.9â%) had an abnormal karyotype including 9/14 (64.3â%) with microdeletion 22q11.2. 25 (33.8â%) had extracardiac malformation. 4 (5.4â%) had agenesis of ductus arteriosus (DA), 22 (29.7â%) had right aortic arch (RAA) and 9 (12.2â%) had major aortopulmonary collateral arteries (MAPCAs). Within the postnatal diagnosis group, no patient had TOF-PA, 4/68 (5.9â%) had TOF-APVS.â12 (17.6â%) had extracardiac malformations, 9 (13.2â%) had an abnormal karyotype including 2/9 with microdeletion 22q11.2. 10 (14.7â%) had RAA, 9 (13.2â%) had MAPCAs. There were no cases with agenesis of DA. Increasing z-score values of the left/right pulmonary artery (LPA/RPA) prenatally were associated with a lower probability for early postnatal intervention (RPA: pâ=â0.017; LPA: pâ=â0.013). Within the prenatal diagnosis group, 12 of 41 (29.3â%) live-born patients with follow-up and intention to treat needed early intervention versus 7 (10.3â%) in the postnatal diagnosis group (pâ=â0.02). Within the postnatal diagnosis group, there were no deaths, while 2 (4.9â%) post-intervention deaths occurred in the prenatal diagnosis group. CONCLUSION: There are no significant differences concerning post-intervention survival in the prenatal diagnosis group versus the postnatal diagnosis group.âComplex cases may be underrepresented in the postnatal diagnosis group.âSmaller RPA/LPA values prenatally seem to be associated with early postnatal intervention.
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Cardiopatías Congénitas , Atresia Pulmonar , Tetralogía de Fallot , Femenino , Humanos , Recién Nacido , Embarazo , Diagnóstico Prenatal , Atresia Pulmonar/diagnóstico por imagen , Estudios Retrospectivos , Tetralogía de Fallot/diagnóstico por imagen , Tetralogía de Fallot/cirugía , Ultrasonografía PrenatalRESUMEN
OBJECTIVE: The objective of this study was to analyze the spectrum of prenatally diagnosed absent pulmonary valve syndrome (APVS) and the outcome from diagnosis onwards. Fetuses with APVS and tetralogy of Fallot (TOF/APVS) and with APVS and intact ventricular septum (APVS/IVS) were included. METHOD: Multicenter retrospective study of the International Prenatal Cardiology Collaboration Group. Clinical and echocardiographic databases of nine referral centers were reviewed from 2012-2016. RESULTS: The cohort included 71 cases, 59 with TOF/APVS and 12 with APVS/IVS. In 18.3% of cases, diagnosis was achieved within first trimester. Association with hydrops fetalis was high within first trimester (69%). No fetus with known outcome survived after first trimester diagnosis. Karyotype anomalies occurred in 45% of cases with known karyotype. Intrauterine fetal demise occurred in 14.3%. Overall survival after initial diagnosis in the total cohort was 28.1% (28.8% TOF/APVS and 25.0% APVS/IVS). Survival to birth was 50% in TOF/APVS and 44.4% in APVS/IVS. Survival of subjects born alive beyond neonatal period was 84.6% in TOF/APVS and 100% in APVS/IVS. CONCLUSION: Diagnosis of APVS is feasible within first trimester. Outcomes remain guarded, especially if first trimester diagnosis is included into the analysis because of associated karyotypic anomalies, the presence of hydrops fetalis, and patent ductus arteriosus. © 2017 John Wiley & Sons, Ltd.
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Válvula Pulmonar/anomalías , Tetralogía de Fallot/diagnóstico por imagen , Europa (Continente)/epidemiología , Femenino , Humanos , Embarazo , Primer Trimestre del Embarazo , Estudios Retrospectivos , Tetralogía de Fallot/epidemiología , Ultrasonografía PrenatalRESUMEN
BACKGROUND: Rd (SC4) is a low-frequency antigen of the Scianna blood group system. Only very few reports on anti-Rd in pregnancy exist. Mild to moderate hemolytic disease of the newborn caused by anti-Rd has been reported. This report may add further information on the clinical significance of anti-Rd for the fetus. CASE REPORT: In a case of severe fetal anemia (hemoglobin concentration, 3.0 g/dL) repeated intrauterine transfusions were required. The strongly positive direct antiglobulin test (DAT) of the fetal red blood cells led to the diagnosis of hemolytic disease. The routine antibody screen was negative, extended testing revealed a maternal anti-Rd with a titer of 256. Both the newborn and her father were confirmed to carry the SC*01.04 allele. CONCLUSION: Anti-Rd can cause fetal anemia. Low-frequency antigens including Rd are normally not present on screening cells. Antibodies directed against low-frequency antigens will usually not be detected by routine antibody screening in pregnancy. Thus, in cases of fetal anemia the DAT should always be included in the diagnostic workup.
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Anemia/diagnóstico , Eritroblastosis Fetal/diagnóstico , Enfermedades Fetales/diagnóstico , Alelos , Anemia/sangre , Anemia/inmunología , Bilirrubina/sangre , Antígenos de Grupos Sanguíneos/inmunología , Prueba de Coombs , Eritroblastosis Fetal/sangre , Eritroblastosis Fetal/inmunología , Femenino , Enfermedades Fetales/sangre , Enfermedades Fetales/inmunología , Hemoglobinas/metabolismo , Humanos , Recién Nacido , Masculino , EmbarazoRESUMEN
Purpose The purpose of this study was to assess the cardiac axis in fetuses with conotruncal anomalies during four-chamber view scanning. Materials and Methods We retrospectively evaluated the cardiac axis of 150 fetuses with conotruncal anomalies within the second and third trimester between October 2008 and August 2014. The cardiac axis was obtained by the angle of two lines in a transverse view of the fetal thorax at the level of the four-chamber view. The first line divided the thorax into two equal halves starting from the spine posteriorly ending at the sternum. The second line was placed through the interventricular septum of the fetal heart. The angle was calculated using OsiriX software. Results 23 had double outlet right ventricle (DORV), 17 had truncus arteriosus communis (TAC), 36 had tetralogy of Fallot (TOF), and 74 had complete transposition of the great arteries (d-TGA). In fetuses with DORV ≤â24â+â6 weeks of gestation (wks), the mean cardiac axis was 52.5° (pâ=â0.005), at ≥â25â+â0 wks it was 51.1° (pâ=â0.0003). In fetuses with TAC ≤â24â+â6 wks, the mean cardiac axis was 56.8° (pâ=â0.01), at ≥â25â+â0 wks it was 50.0° (pâ=â0.05). In fetuses with TOF ≤â24â+â6 wks, the mean cardiac axis was 67.5° (pâ<â0.0001), at ≥â25â+â0 wks it was 63.8° (pâ<â0.0001). In fetuses with d-TGA ≤â24â+â6 wks, the mean cardiac axis was 45.6°, at ≥â25â+â0 wks it was 45.4° (not significant). Throughout gestation, the cardiac axis did not show a difference in the two separate examinations. Conclusion In fetuses with DORV, TAC and TOF, the cardiac axis is significantly different from the normal axis, but in fetuses with TGA there is no significant difference compared to the normal axis. Therefore, analysis of the heart axis could be useful for screening for conotruncal anomalies.
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Ecocardiografía/métodos , Cardiopatías Congénitas/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Aorta Torácica/diagnóstico por imagen , Femenino , Tabiques Cardíacos/diagnóstico por imagen , Humanos , Recién Nacido , Masculino , Embarazo , Segundo Trimestre del Embarazo , Tercer Trimestre del Embarazo , Valores de Referencia , Estudios Retrospectivos , Tórax/diagnóstico por imagenRESUMEN
Purpose To assess the spectrum of associated anomalies, the intrauterine course, the outcome and possible prognostic markers in prenatally diagnosed Ebstein's anomaly (EA). Materials and Methods All cases of EA diagnosed over a period of 13 years with a minimum follow-up of 1 year were retrospectively collected in 4 tertiary referral centers in Germany. Results In the study period 76 cases of EA were prenatally diagnosed. The mean gestational age at diagnosis was 25.0 weeks (range: 13â-â35). 41 (53.9â%) cases were isolated and 35 (46.1â%) had other cardiac and/or extracardiac anomalies. 19 (25.0â%) pregnant women opted for termination of pregnancy, intrauterine fetal death occurred in 7 cases (9.2â%), neonatal death in 14 cases (18.4â%), death in infancy or childhood in 9 cases (11.8â%) and 27 children (35.5â%) were alive at the last follow-up.âAfter exclusion of terminations, the only parameter inversely correlated with intrauterine survival was hydrops fetalis. Prognostic parameters significantly associated with postnatal non-survival were an abnormal Celermajer index (right atrium/heart ratio >â0.7), cardiomegaly (cardiothoracic circumference ratio >â0.5), absence of antegrade flow over the pulmonary valve and earlier diagnosis in pregnancy. Conclusion Prenatally diagnosed EA has a high morbidity and mortality with the highest loss rate in the intrauterine and neonatal period. In our study, hydrops fetalis was the only parameter significantly associated with intrauterine demise, while other prenatal markers were only significantly associated with postnatal mortality.
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Anomalía de Ebstein , Diagnóstico Prenatal , Niño , Anomalía de Ebstein/diagnóstico por imagen , Femenino , Feto , Alemania , Humanos , Embarazo , Estudios Retrospectivos , Válvula Tricúspide/anomalías , Válvula Tricúspide/diagnóstico por imagenRESUMEN
OBJECTIVE: Functionally univentricular hearts (UVHs) represent cardiac anomalies in which either the pulmonary or systemic circulation cannot be supported independently. The purpose of our study was to determine perinatal outcomes after prenatal diagnosis of functionally UVH. METHODS: We retrospectively evaluated patients who presented between 2008 and June 2015 in our centre and in prenatal practice praenatal.de in Cologne. We included double inlet left ventricle (DILV), tricuspid valve atresia (TA), pulmonary valve atresia and intact ventricular septum (PA:IVS), unbalanced atrioventricular septal defect (AVSD), heterotaxy, hypoplastic left heart syndrome (HLHS) and hypoplastic left heart complex (HLHC). RESULTS: Of initially 155 patients, 128 were liveborn (82.6%). Ten neonates (7.8%) were lost to follow-up, in three (2.5%) neonates, parents decided for compassionate care. Overall survival after prenatal diagnosis of functionally UVH was 67.1%, and 90.4% on an intention-to-treat basis. Survival after surgery reached 93.7%. The majority of deaths occurred within the group of dominant RV (10/74, 13.5%). High risk HLHS with restrictive foramen ovale was associated with the lowest survival rate (13/17, 76.5%) with significant difference compared to survival rate in dominant LV (40/41, 97.6%, p < 0.05). CONCLUSION: These results should be explained to parents to ensure informed decisions and counselling. © 2016 John Wiley & Sons, Ltd.
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Anomalías Múltiples/epidemiología , Cardiopatías Congénitas/mortalidad , Ventrículos Cardíacos/anomalías , Adolescente , Adulto , Femenino , Alemania/epidemiología , Cardiopatías Congénitas/diagnóstico por imagen , Cardiopatías Congénitas/cirugía , Defectos de los Tabiques Cardíacos/diagnóstico por imagen , Defectos de los Tabiques Cardíacos/mortalidad , Defectos de los Tabiques Cardíacos/cirugía , Ventrículos Cardíacos/diagnóstico por imagen , Síndrome de Heterotaxia/diagnóstico por imagen , Síndrome de Heterotaxia/mortalidad , Síndrome de Heterotaxia/cirugía , Humanos , Síndrome del Corazón Izquierdo Hipoplásico/diagnóstico por imagen , Síndrome del Corazón Izquierdo Hipoplásico/mortalidad , Síndrome del Corazón Izquierdo Hipoplásico/cirugía , Recién Nacido , Perdida de Seguimiento , Masculino , Persona de Mediana Edad , Embarazo , Atresia Pulmonar/diagnóstico por imagen , Atresia Pulmonar/mortalidad , Atresia Pulmonar/cirugía , Estudios Retrospectivos , Tasa de Supervivencia , Atresia Tricúspide/diagnóstico por imagen , Atresia Tricúspide/mortalidad , Atresia Tricúspide/cirugía , Ultrasonografía Prenatal , Adulto JovenRESUMEN
The VATER/VACTERL association is typically defined by the presence of at least three of the following congenital malformations: vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. The identification of 14 twin pairs with an initial diagnosis of VATER/VACTERL association at our clinical centers led to the performance of a classical twin study. This involved a thorough evaluation of these 14 twin pairs and a further 55 twin pairs identified from a systematic review of the literature. The zygosity, concordance, and malformation status of all 69 twin pairs were evaluated. Twenty-four twin pairs fulfilled the criteria for inclusion in a comparison of the concordance rates between monozygous (MZ) and dizygous (DZ) twin pairs. The pairwise concordance rates were 15% [95% confidence interval (CI) 4-42%] for MZ and 18% (95% CI 5-48%) for DZ twin pairs (P=0.53). The probandwise concordance rates were 27% (95% CI 11-52%) for MZ and 31% (95% CI 13-58%) for DZ twin pairs (P=0.40). Although based on a limited number of twin pairs, the findings of the present study are consistent with the low number of familial cases reported to date, and suggest that the role of inherited genetic factors in the majority of VATER/VACTERL cases is limited.
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Ano Imperforado/patología , Enfermedades en Gemelos/patología , Cardiopatías Congénitas/patología , Esófago/anomalías , Esófago/patología , Humanos , Radio (Anatomía)/anomalías , Radio (Anatomía)/patología , Columna Vertebral/anomalías , Columna Vertebral/patología , Tráquea/anomalías , Tráquea/patología , Gemelos Dicigóticos , Gemelos MonocigóticosRESUMEN
The etiology of gastroschisis remains elusive. A classic twin study was used to assess the relative contribution of environmental and genetic factors in its development. Screening of 4872 twin pregnancies identified three unreported twin pairs comprising two monozygous and one dizygous discordant pair of twins. Review of the literature identified an additional 21 twin pairs. We observed lower pair- and proband-wise concordance rates for monozygotic compared to dizygotic twin pairs, pair- and proband-wise concordance ratios below 1.0. Our results suggest environmental to play a greater role than genetic factors in the development of gastroschisis.
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Enfermedades en Gemelos/genética , Gastrosquisis/genética , Embarazo Gemelar , Adulto , Enfermedades en Gemelos/epidemiología , Femenino , Gastrosquisis/epidemiología , Predisposición Genética a la Enfermedad , Alemania/epidemiología , Edad Gestacional , Humanos , Masculino , Embarazo , Resultado del Embarazo , Sistema de Registros , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genéticaRESUMEN
BACKGROUND: Isolated esophageal atresia (EA) is a rare congenital malformation whose etiology remains largely unknown. Nine twin pairs with EA were identified from our clinical service, prompting the performance of a systematic review of the literature and the first reported twin study of isolated EA. METHODS: A total of 330 twin pairs with EA were identified from the literature. The zygosity, concordance, and malformation (isolated vs. nonisolated) status of all 339 twin pairs were evaluated. A total of 72 twin pairs (4 of 9 / 68 of 330) fulfilled the criteria for inclusion in a classic twin study of isolated EA. RESULTS: The pairwise concordance rates were 50% (95% confidence interval [CI], 34-66%) for monozygous (MZ) twin pairs and 26% (95% CI, 15-42%) for dizygous (DZ) twin pairs (p = 0.033). The probandwise concordance rates were 67% (95% CI, 53-78%) for MZ twin pairs and 42% (95% CI, 29-56%) for DZ twin pairs (p = 0.011). The MZ/DZ ratios were 1.9 for pairwise analysis and 1.6 for probandwise analysis. The familial risk ratios for MZ and DZ twin pairs were 1700 and 900, respectively. CONCLUSION: The observation of higher concordance rates for MZ compared to DZ twin pairs indicates that genetic factors contribute to isolated EA.