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OBJECTIVE: Omphalocele is known to be associated with genetic anomalies like trisomy 13, 18 and Beckwith-Wiedemann syndrome, but not with Turner syndrome (TS). Our aim was to assess the incidence of omphalocele in fetuses with TS, the phenotype of this association with other anomalies, their karyotype, and the fetal outcomes. METHOD: Retrospective multicenter study of fetuses with confirmed diagnosis of TS. Data were extracted from a detailed questionnaire sent to specialists in prenatal ultrasound. RESULTS: 680 fetuses with TS were included in this analysis. Incidence of small omphalocele in fetuses diagnosed ≥12 weeks was 3.1%. Including fetuses diagnosed before 12 weeks, it was 5.1%. 97.1% (34/35) of the affected fetuses had one or more associated anomalies including increased nuchal translucency (≥3 mm) and/or cystic hygroma (94.3%), hydrops/skin edema (71.1%), and cardiac anomalies (40%). The karyotype was 45,X in all fetuses. Fetal outcomes were poor with only 1 fetus born alive. CONCLUSION: TS with 45,X karyotype but not with X chromosome variants is associated with small omphalocele. Most of these fetuses have associated anomalies and a poor prognosis. Our data suggest an association of TS with omphalocele, which is evident from the first trimester.
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Hernia Umbilical , Síndrome de Turner , Embarazo , Femenino , Humanos , Síndrome de Turner/complicaciones , Síndrome de Turner/epidemiología , Síndrome de Turner/genética , Hernia Umbilical/diagnóstico por imagen , Hernia Umbilical/epidemiología , Hernia Umbilical/genética , Ultrasonografía Prenatal , Incidencia , Medida de Translucencia Nucal , Cariotipo , Edema , Feto , Fenotipo , Aberraciones CromosómicasRESUMEN
OBJECTIVE: We aimed to investigate how the presence of fetal anomalies and different X chromosome variants influences Cell-free DNA (cfDNA) screening results for monosomy X. METHODS: From a multicenter retrospective survey on 673 pregnancies with prenatally suspected or confirmed Turner syndrome, we analyzed the subgroup for which prenatal cfDNA screening and karyotype results were available. A cfDNA screening result was defined as true positive (TP) when confirmatory testing showed 45,X or an X-chromosome variant. RESULTS: We had cfDNA results, karyotype, and phenotype data for 55 pregnancies. cfDNA results were high risk for monosomy X in 48/55, of which 23 were TP and 25 were false positive (FP). 32/48 high-risk cfDNA cases did not show fetal anomalies. Of these, 7 were TP. All were X-chromosome variants. All 16 fetuses with high-risk cfDNA result and ultrasound anomalies were TP. Of fetuses with abnormalities, those with 45,X more often had fetal hydrops/cystic hygroma, whereas those with "variant" karyotypes had different anomalies. CONCLUSION: Both, 45,X or X-chromosome variants can be detected after a high-risk cfDNA result for monosomy X. When there are fetal anomalies, the result is more likely a TP. In the absence of fetal anomalies, it is most often an FP or X-chromosome variant.
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Ácidos Nucleicos Libres de Células , Síndrome de Down , Síndrome de Turner , Embarazo , Humanos , Femenino , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Síndrome de Down/diagnóstico , Estudios Retrospectivos , Cromosoma X , Diagnóstico Prenatal/métodosRESUMEN
PURPOSE: To assess the spectrum of associated cardiac anomalies, the intrauterine course, and postnatal outcome of fetuses with double inlet ventricle (DIV). METHODS: Retrospective analysis of prenatal ultrasound of 35 patients with DIV diagnosed between 2003 and 2021 in two tertiary referral centers in Germany. All fetuses underwent fetal echocardiography and a detailed anomaly scan. Postnatal outcome and follow-up data were retrieved from pediatric reports. RESULTS: 33 cases of DIV were correctly diagnosed prenatally. 24 fetuses (72.7%) had a double inlet ventricle with dominant left (DILV), 7 (21.2%) with dominant right ventricular morphology (DIRV), and 2 cases (6%) with indeterminate morphology (DIIV). 4 (16.6%) were Holmes hearts. 5 of the 7 fetuses (71.4%) with DIRV had a double outlet right ventricle (DORV). Malposition of the great arteries was present in 84.8%. Chromosomal abnormalities were absent. Termination of pregnancy was performed in 8 cases (24.2%). 24 fetuses (72.7%) were live-born. 5 (20.8%) were female and 19 (79.2%) were male. The median gestational age at birth was 38+2.5 weeks. All but one child received univentricular palliation. The median follow-up time was 5.83 years with an adjusted survival rate of 91.6% (22 of 24 live-born children). There was one case of Fontan failure at 15.7 years. CONCLUSION: DIV remains a major cardiac malformation although both prenatal diagnostics and cardiac surgery have improved over the years. The course of pregnancy is commonly uneventful. All children need univentricular palliation. The children are slightly physically limited, develop a normal intellect, and attend school regularly.
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Bahías , Cardiopatías Congénitas , Embarazo , Recién Nacido , Humanos , Masculino , Femenino , Niño , Lactante , Estudios Retrospectivos , Ultrasonografía Prenatal , Diagnóstico Prenatal , Cardiopatías Congénitas/diagnóstico por imagen , FetoRESUMEN
PURPOSE: Aorto-left ventricular tunnel (ALVT) is an extremely rare, albeit prenatally detectable, extracardiac channel that connects the ascending aorta to the cavity of the left ventricle. MATERIALS AND METHODS: All ALVTs diagnosed prenatally (2006-2020) in five tertiary referral centers were retrospectively assessed for prenatal ultrasound findings, intrauterine course, postnatal outcome, and surgical treatment. We focused on the size of the tunnel and alterations of perfusion of the left ventricular outflow tract and aortic arch. RESULTS: 11 fetuses were diagnosed with ALVT at a mean gestational age of 24.8 weeks. All cases were associated with severe dilatation of the left ventricle and a to-and-fro flow in the left outflow tract. Signs of congestive heart failure were present in five fetuses, four of which were terminated and one of which died in the neonatal period. One fetus died in utero at 34 weeks without prior signs of cardiac failure. Of the five survivors, two underwent the Ross procedure. In both cases the prenatal left ventricular outflow was exclusively via a large tunnel. The remaining three neonates underwent patch closure of the tunnel. In these cases, the prenatal outflow of the left ventricle was via the aortic valve and simultaneously over the tunnel. CONCLUSION: Prenatal diagnosis of ALVT should be considered in the presence of left ventricular hypertrophy, dilatation of the aortic root, and to-and-fro flow in the aortic outflow tract. Signs of heart failure are associated with an unfavorable outcome. Large tunnels, particularly in combination with the absence of flow over the aortic valve, may be an unfavorable predictor of surgical repair.
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Insuficiencia de la Válvula Aórtica , Túnel Aórtico-Ventricular , Recién Nacido , Embarazo , Femenino , Humanos , Lactante , Insuficiencia de la Válvula Aórtica/cirugía , Estudios Retrospectivos , Aorta/diagnóstico por imagen , Aorta/cirugía , Diagnóstico Prenatal , Ventrículos Cardíacos/diagnóstico por imagen , Ventrículos Cardíacos/cirugíaRESUMEN
PURPOSE: To evaluate the outcome of first trimester intervention by intrafetal laser (IFL) in pregnancies complicated by twin reversed arterial perfusion (TRAP). MATERIALS AND METHODS: For a 10-year study period, all patients with TRAP diagnosed <â14.0 weeks of gestation were retrospectively analyzed for intrauterine course and outcome. Monoamniotic pregnancies were excluded. Patients were offered either intervention by IFL in the first trimester, expectant management, or termination of pregnancy (TOP). Adverse outcome was defined as either intrauterine death (IUD), neonatal death, or preterm birth. RESULTS: In 45 cases TRAP was diagnosed. 17 monoamniotics were excluded. The cohort was divided into two groups according to management. Group A: 24 cases underwent IFL and group B: 4 cases were managed expectantly. No patient opted for TOP. In group A, 70.8â% of pump twins were born alive, including one preterm delivery, and 29.2â% died within four days after the intervention. All 4 expectantly managed cases in group B had an adverse outcome (1 preterm delivery, 3 IUDs <â15.0 weeks). There were no neonatal deaths. In cases treated by IFL, a comparison of survivors and non-survivors identified no significant differences in gestational age at IFL or any of the assessed biometrical and functional parameters. There was a trend towards better outcome in the second half of the study period. CONCLUSION: IFL in first trimester TRAP sequence is technically feasible but is associated with significant mortality, albeit less than previously reported. No risk stratification is possible using the investigated parameters. However, there seems to be a learning curve.
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Nacimiento Prematuro , Embarazo , Femenino , Recién Nacido , Humanos , Primer Trimestre del Embarazo , Estudios Retrospectivos , Gemelos , Edad Gestacional , Perfusión , Resultado del Embarazo , Embarazo GemelarRESUMEN
INTRODUCTION: The aim of this study is to evaluate the outcome of pregnancies complicated by monochorionic monoamniotic twin reversed arterial perfusion sequence (MOMA TRAP) diagnosed in the first trimester. METHODS: All patients diagnosed with MOMA TRAP sequence <14.0 weeks of gestation in a 10-year study period were retrospectively analyzed for intrauterine course and outcome. All patients were offered either expectant management or intrauterine intervention. Adverse outcome was defined as either intrauterine death (IUD), neonatal death or preterm birth <34.0 weeks of gestation. RESULTS: In the study period, 17 cases with MOMA TRAP sequence were diagnosed. Of these, 2 couples opted for termination of pregnancy. The remaining 15 were divided into 2 groups depending on the management: group A (n = 8) with expectant management and group B (n = 7) with intrauterine intervention. All fetuses in group A died before 20 weeks. Survival in group B was significantly better with 4/7 (57.1%) life births at a median of 39.6 weeks of gestation (p = 0.0256). The reasons for IUD in the 3 cases in group B were hemodynamic, strangulation, and bleeding complications during intervention. CONCLUSIONS: Intrauterine intervention in MOMA TRAP pregnancies significantly improves neonatal survival, although it is still associated with a substantial risk for IUD by hemodynamic complications or entanglement.
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Transfusión Feto-Fetal , Nacimiento Prematuro , Femenino , Humanos , Recién Nacido , Perfusión , Embarazo , Resultado del Embarazo , Primer Trimestre del Embarazo , Embarazo Gemelar , Estudios RetrospectivosRESUMEN
PURPOSE: To assess the intrauterine course, associated conditions and postnatal outcome of fetuses with pulmonary atresia with ventricular septal defect (PAVSD). METHODS: All cases of PAVSD diagnosed prenatally over a period of 10 years with a minimum follow-up of 6.5 years were retrospectively collected in 3 tertiary referral centers. RESULTS: 50 cases of PAVSD were diagnosed prenatally. 44.0â% of fetuses had isolated PAVSD, 4.0â% had associated cardiac anomalies, 10.0â% had extra-cardiac anomalies, 38.0â% had chromosomal anomalies, 4.0â% had non-chromosomal syndromes. Among the 32 liveborn children, 56.3â% had reverse flow in the patent arterial duct, 25.0â% had major aortopulmonary collateral arteries (MAPCAs) with ductal agenesis and 18.7â% had a double supply. 17 pregnancies were terminated (34.0â%), there was 1 intrauterine fetal death (2.0â%), 1 neonatal death (2.0â%), and 6 deaths (12.0â%) in infancy. 25 of 30 (83.3â%) liveborn children with an intention to treat were alive at the latest follow-up.âThe mean follow-up among survivors was 10.0 years (range 6.5-15.1). 56.0â% of infants underwent staged repair, 44.0â% had one-stage complete repair. After exclusion of infants with additional chromosomal or syndromal anomalies, 88.9â% were healthy, and 11.1â% had mild limitations. The presence of MAPCAs did not differ significantly between survivors and non-survivors (pâ=â0.360), between one-stage or staged repair (pâ=â0.656) and healthy and impaired infants (pâ=â0.319). CONCLUSION: The prognosis in cases without chromosomal or syndromal anomalies is good. MAPCAs did not influence prognosis or postoperative health. The incidence of repeat interventions due to recurrent stenoses is significantly higher after staged compared with single-stage repair.
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Defectos del Tabique Interventricular , Atresia Pulmonar , Femenino , Feto , Defectos del Tabique Interventricular/diagnóstico por imagen , Defectos del Tabique Interventricular/cirugía , Humanos , Lactante , Embarazo , Diagnóstico Prenatal , Arteria Pulmonar , Atresia Pulmonar/diagnóstico por imagen , Atresia Pulmonar/cirugía , Estudios RetrospectivosRESUMEN
PURPOSE: To assess the intrauterine course, the outcome, and to establish a new prenatal echocardiographic scoring system to predict biventricular (BV) versus univentricular (UV) outcome of fetuses with severe pulmonary stenosis or atresia with intact ventricular septum (PSAIVS). METHODS: All cases of PSAIVS diagnosed prenatally over a period of 14years were retrospectively collected in 2 tertiary referral centers. RESULTS: Forty-nine fetuses with PSIVS (n = 11) or PAIVS (n = 38) were identified prenatally. Nineteen (38.8%) fetuses had additional ventriculocoronary connections (VCCs) and 21 (42.9%) fetuses had right ventricular hypoplasia. Four (8.2%) pregnancies were terminated, 2 (4.1%) ended in intrauterine fetal death, 4 (8.2%) in neonatal death, and 5 (10.2%) children died in infancy or childhood, including one case with compassionate care. Thirty-four of 44 (77.3%) fetuses with the intention-to-treat were alive at latest follow-up, 25 (73.5%) with BV, and 9 (26.5%) with UV circulation. Most significant predictive markers of UV circulation were Vmax of tricuspid regurgitation (TR) <2 m/s, right ventricle/left ventricle length ratio ≤0.6, and presence of VCC. A scoring system including these 3 markers had 100% sensitivity and 100% specificity predicting an UV outcome if more than one of these criteria was fulfilled. All 25 liveborn infants that were suitable for BV repair survived, whereas only 9 out of 14 candidates for UV repair survived. None of the 14 fetuses with predicted UV outcome would have met the inclusion criteria for fetal intervention, as 10 of them had VCC and the remaining 4 had absent TR or Vmax <2 m/s. CONCLUSION: The prognosis of prenatally diagnosed PSAIVS is good if BV circulation can be achieved, while postnatal mortality in UV circulation is high within the first 4 months of life. Postnatal outcome can be predicted prenatally with high accuracy using a simple scoring system. This information is mandatory for parental counseling and may be useful in selecting fetuses for intrauterine valvuloplasty.
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Cardiopatías Congénitas/diagnóstico por imagen , Atresia Pulmonar/diagnóstico por imagen , Estenosis de la Válvula Pulmonar/diagnóstico por imagen , Tabique Interventricular/diagnóstico por imagen , Procedimientos Quirúrgicos Cardíacos , Ecocardiografía , Femenino , Cardiopatías Congénitas/cirugía , Humanos , Masculino , Embarazo , Resultado del Embarazo , Diagnóstico Prenatal , Pronóstico , Atresia Pulmonar/cirugía , Estenosis de la Válvula Pulmonar/cirugía , Índice de Severidad de la Enfermedad , Ultrasonografía Prenatal , Tabique Interventricular/cirugíaRESUMEN
OBJECTIVE: To assess the intrauterine course and outcome of fetal cardiac intervention (FCI) in fetuses with critical aortic stenosis (CAS), severe mitral regurgitation (MR), severe left atrial dilatation (LAD), and restrictive foramen ovale (RFO) or intact atrial septum. METHODS: All fetuses with a prenatal diagnosis of CAS, severe MR, severe LAD, and RFO were retrospectively collected in one tertiary center for fetal medicine over a period of 10 years. Video recordings, pre- and postnatal charts were reviewed for cardiac and extracardiac anomalies, intrauterine course, and postnatal outcome. RESULTS: Nineteen fetuses with CAS, severe MR, severe LAD, and RFO were diagnosed in the study period. In 5 cases, FCI was not considered as the parents either opted for expectative management or for termination. In the remaining 14 fetuses, 21 FCI were performed: 14 balloon valvuloplasties, 2 atrioseptostomies, and 5 fetal atrial stent insertions. Seven of 14 fetuses (50%) had fetal hydrops, 5 of 14 fetuses (36%) presented with intact atrial septum. Procedure-related death occurred in 5 fetuses after aortic valvuloplasty or concomitant atrioseptostomy but in none after fetal atrial stenting. Due to progressive hydrops, two terminations of pregnancy were performed. Among the 7 live births, 3 died in the neonatal period. The remaining 4 received single ventricle palliation, 2 following fetal aortic valvuloplasty and 2 after fetal atrial stent insertion. CONCLUSIONS: CAS with severe MR, severe LAD, and RFO has a high overall mortality even in cases undergoing intrauterine intervention. Parameters that accurately predict the intrauterine and postnatal outcome have yet to be defined.
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Estenosis de la Válvula Aórtica/cirugía , Corazón Fetal/cirugía , Cardiopatías Congénitas/cirugía , Insuficiencia de la Válvula Mitral/cirugía , Estenosis de la Válvula Aórtica/diagnóstico por imagen , Valvuloplastia con Balón , Femenino , Corazón Fetal/diagnóstico por imagen , Foramen Oval , Cardiopatías Congénitas/diagnóstico por imagen , Humanos , Insuficiencia de la Válvula Mitral/diagnóstico por imagen , Embarazo , Resultado del Embarazo , Atención Prenatal , Estudios Retrospectivos , Resultado del Tratamiento , Ultrasonografía PrenatalRESUMEN
BACKGROUND: Protein-losing enteropathy (PLE) is characterised by gastrointestinal protein leakage due to loss of mucosal integrity or lymphatic abnormalities. PLE can manifest as congenital diarrhoea and should be differentiated from other congenital diarrhoeal disorders. Primary PLEs are genetically heterogeneous and the underlying genetic defects are currently emerging. OBJECTIVES: We report an infant with fatal PLE for whom we aimed to uncover the underlying pathogenic mutation. METHODS: We performed whole exome sequencing (WES) for the index patient. Variants were classified based on the American College of Medical Genetics and Genomics guidelines. WES results and our detailed clinical description of the patient were compared with the literature. RESULTS: We discovered a novel homozygous stop mutation (c.988C>T, p.Q330*) in the Plasmalemma Vesicle-Associated Protein (PLVAP) gene in a newborn with fatal PLE, facial dysmorphism, and renal, ocular and cardiac anomalies. The Q330* mutation is predicted to result in complete loss of PLVAP protein expression leading to deletion of the diaphragms of endothelial fenestrae, resulting in plasma protein extravasation and PLE. Recently, another single homozygous stop mutation in PLVAP causing lethal PLE in an infant was reported. CONCLUSIONS: Our findings validate PLVAP mutations as a cause of syndromic PLE. Prenatal anomalies, severe PLE and syndromic features may guide the diagnosis of this rare disease.
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Proteínas Portadoras/genética , Homocigoto , Proteínas de la Membrana/genética , Mutación , Enteropatías Perdedoras de Proteínas/genética , Resultado Fatal , Humanos , Recién Nacido , Masculino , Enteropatías Perdedoras de Proteínas/metabolismo , Enteropatías Perdedoras de Proteínas/patología , Secuenciación del ExomaRESUMEN
Objective To assess the spectrum of associated anomalies, the intrauterine course, postnatal outcome and management of fetuses with double outlet right ventricle (DORV). Methods All cases of DORV diagnosed prenatally over a period of 8 years were retrospectively collected in a single tertiary referral center. All additional prenatal findings were assessed and correlated with the outcome. The accuracy of prenatal diagnosis was assessed. Results Forty-six cases of DORV were diagnosed prenatally. The mean gestational age at first diagnosis was 21+4 weeks (range, 13-37). A correct prenatal diagnosis of DORV was made in 96.3% of the cases. If the relation of the great arteries, the position of the ventricular septal defect (VSD) and additional cardiac anomalies are taken into account, the prenatal diagnosis was correct in 92.6% of the cases. One case was postnatally classified as transposition of the great arteries with subpulmonary VSD and was excluded from further analysis. A total of 41 (91.1%) fetuses with DORV had major additional cardiac anomalies, 30 (66.7%) had extracardiac anomalies and 13 (28.9%) had chromosomal or syndromal anomalies. Due to their complex additional anomalies, five (11.1%) of our 45 fetuses had multiple malformations and were highly suspicious for non-chromosomal genetic syndromes, although molecular diagnosis could not be provided. Disorders of laterality occurred in 10 (22.2%) fetuses. There were 17 terminations of pregnancy (37.8%), two (4.4%) intrauterine and seven (15.6%) postnatal deaths. Nineteen of 22 (86.4%) live-born children with an intention to treat were alive at last follow-up. The mean follow-up among survivors was 32 months (range, 2-72). Of 21 children who had already undergone postnatal surgery, eight (38.1%) achieved biventricular repair and 13 (61.9%) received univentricular palliation. One recently born child is still waiting for surgery. All children predicted prenatally to need a single ventricle palliation, and all children predicted to achieve biventricular repair, ultimately received the predicted type of surgery. After surgery, 14 of 18 (77.8%) children were healthy without any impairment. Conclusion DORV is a rare and often complex cardiac anomaly that can be diagnosed prenatally with high precision. DORV is frequently associated with major additional anomalies, leading to a high intrauterine and postnatal loss rate due to terminations or declined postnatal therapy. Without additional anomalies, the prognosis is good, although approximately 60% of children will have single ventricle palliation.
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Ventrículo Derecho con Doble Salida/diagnóstico por imagen , Ventrículo Derecho con Doble Salida/epidemiología , Ventrículo Derecho con Doble Salida/cirugía , Ecocardiografía , Femenino , Alemania/epidemiología , Humanos , Recién Nacido , Embarazo , Estudios Retrospectivos , Ultrasonografía PrenatalRESUMEN
PURPOSE: Isolated classic bladder exstrophy (CBE) is the most common variant of the bladder-exstrophy-epispadias complex (BEEC). The BEEC represents a spectrum ranging from isolated epispadias over CBE to the most severe form, cloacal exstrophy. We report on a series of 12 cases with CBE diagnosed prenatally and illustrate the spectrum of prenatal ultrasound findings with comparison to prior published reports on this entity. METHODS: This was a retrospective study involving 12 fetuses with CBE at two large tertiary referral centers in Germany over a 14-year period (2004-2018). RESULTS: Median diagnosis was made with ultrasound in 24 + 5 (IQR25,75: 21 + 2, 29 + 0) weeks of gestation. All fetuses presented with the pathognomonic findings non-visualization of the fetal bladder and protruding abdominal mass below the umbilical cord insertion. All fetuses showed normal kidney anatomy and normal amniotic fluid throughout pregnancy. Epispadia was visible prenatally on ultrasound in 6/8 male fetuses. 1/12 Parents opted for termination of pregnancy, 11/12 fetuses were live born and received reconstructive surgery. CONCLUSIONS: Isolated CBE is an extremely rare prenatal sonographic finding. Prenatal diagnostics should exclude additional malformations within the spectrum of cloacal malformations.
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Extrofia de la Vejiga/diagnóstico , Diagnóstico Prenatal/métodos , Adulto , Femenino , Humanos , Masculino , Embarazo , Estudios RetrospectivosRESUMEN
PURPOSE: To assess the anatomic variants, associated anomalies and postnatal outcome of fetuses with a prenatally diagnosed agenesis of ductus venosus (ADV). MATERIALS AND METHODS: Retrospective study of 119 cases with agenesis of ductus venosus diagnosed by prenatal ultrasound in two tertiary referral centers from 2006 to 2014. The type and location of the umbilical venous drainage site was noted. Charts were reviewed for associated structural or chromosomal anomalies, pregnancy outcome and postnatal course. RESULTS: In 24 cases (20.2â%) ADV was an isolated finding, while 95 cases (79.8â%) had associated anomalies. We identified 84 cases (70.6â%) with intrahepatic and 35 cases (29.4â%) with extrahepatic drainage of the umbilical vein. 58.8â% of neonates were alive at follow-up.âThere was no statistical association between drainage site and associated anomalies or outcome. Postnatal outcome was determined by the presence and severity of associated anomalies. There was no adverse outcome in the isolated group related to ADV. Overall, there were 6 persistent portosystemic shunts, 3 of them with a spontaneous closure, and one total agenesis of the portal venous system with lethal outcome. CONCLUSION: Postnatal outcome in cases with ADV mainly depends on the presence of associated anomalies. In isolated cases the prognosis is generally good, but neonates with a prenatally diagnosed portosystemic shunt should be followed until its occlusion. Portal venous system agenesis is rare but should be ruled out on prenatal ultrasound.
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Cardiopatías Congénitas , Diagnóstico Prenatal , Ultrasonografía Prenatal , Femenino , Feto , Cardiopatías Congénitas/diagnóstico por imagen , Humanos , Recién Nacido , Embarazo , Estudios Retrospectivos , Venas UmbilicalesRESUMEN
BACKGROUND: Enterolithiasis is a sonographic sign defined by hyperechogenic foci within the - often distended - fetal bowel. OBJECTIVES: We report on a series of 20 cases with enterolithiasis diagnosed prenatally and illustrate the spectrum of associated malformations. METHOD: This was a retrospective study involving 20 fetuses with enterolithiasis at two large tertiary referral centers in Germany over a 17-year period (2000-2017). RESULTS: Median diagnosis was made with ultrasound at 18+2 weeks of gestation (IQR25,75: 14+5, 26+5). Additional malformations included urogenital malformations (cloacal malformation in 7/20 fetuses [35%] and kidney defects in 7/20 fetuses [35%]), cardiac malformations (3/20 fetuses [15%]), and vertebral malformations (5/20 fetuses [25%]). Of 20 fetuses, 14 could be attributed to the anorectal malformation spectrum, 3/20 fetuses presented with caudal regression syndrome, and 1 fetus with bilateral kidney agenesis, congenital diaphragmatic aplasia, and enterovesical fistula, respectively. CONCLUSION: Enterolithiasis is a rare prenatal sonographic feature. Because of the frequent occurrence of uro-recto-genital malformations, thorough prenatal counseling should be performed.
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Enfermedades Fetales/diagnóstico por imagen , Enfermedades Intestinales/diagnóstico por imagen , Femenino , Humanos , Recién Nacido , Masculino , Estudios Retrospectivos , Ultrasonografía PrenatalRESUMEN
BACKGROUND: Hydrocolpos and hydrometrocolpos are rare malformations caused by accumulation of secretion due to congenital obstruction of the vagina. Hydro(metro)colpos may be isolated or can be combined with other malformations as part of a syndromic disorder. We report on a series of 20 cases with hydro(metro)colpos diagnosed prenatally, delineate the differential diagnoses, and illustrate the spectrum of associated malformations. SUBJECTS AND METHODS: This was a retrospective study involving 20 fetuses with hydro(metro)colpos at two large tertiary referral centers in Germany over an 18-year period (2000-2017). RESULTS: The median diagnosis was made at 30+4 weeks of gestation, the earliest at 20+6 weeks, the latest at 37+2 weeks. All 20 fetuses presented with the typical cystic structure behind the fetal bladder. Additional malformations included urogenital malformations, hexadactyly, and heart defects. Postnatal follow-up revealed that hydro(metro)colpos was associated with anorectal malformation in 11/20 fetuses, McKusick-Kaufman syndrome or Bardet-Biedl syndrome in 4/20 fe tuses, Mayer-Rokitansky-Küster-Hauser syndrome in 3/20 fetuses, and Herlyn-Werner-Wunderlich syndrome in 1/20. In 1 fetus pressure from an intraabdominal teratoma resulted in prenatal hydro(metro)colpos. CONCLUSION: Hydro(me tro)colpos is a rare prenatal sonographic feature. Multidisciplinary prenatal counseling should include all potential syndromes that can present with hydro(metro)colpos in the prenatal setting.
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Trastornos del Desarrollo Sexual 46, XX/diagnóstico por imagen , Anomalías Múltiples/diagnóstico por imagen , Síndrome de Bardet-Biedl/diagnóstico por imagen , Anomalías Congénitas/diagnóstico por imagen , Cardiopatías Congénitas/diagnóstico por imagen , Hidrocolpos/diagnóstico por imagen , Conductos Paramesonéfricos/anomalías , Polidactilia/diagnóstico por imagen , Ultrasonografía Doppler Dúplex , Ultrasonografía Prenatal/métodos , Enfermedades Uterinas/diagnóstico por imagen , Adulto , Femenino , Alemania , Edad Gestacional , Humanos , Recién Nacido , Masculino , Conductos Paramesonéfricos/diagnóstico por imagen , Valor Predictivo de las Pruebas , Pronóstico , Estudios RetrospectivosRESUMEN
BACKGROUND: Previous studies on renal oligohydramnios (ROH) report highly variable outcome and identify early onset of ROH and presence of extrarenal manifestations as predictors of adverse outcome in most cases. Data on termination of pregnancy (TOP) and associated parental decision-making processes are mostly missing, but context-sensitive for the interpretation of these findings. We provide here a comprehensive analysis on the diagnosis, prenatal decision-making and postnatal clinical course in all pregnancies with ROH at our medical centre over an 8-year period. METHODS: We report retrospective chart review data on 103 consecutive pregnancies from 2008 to 2015 with a median follow-up of 554 days. RESULTS: After ROH diagnosis, 38 families opted for TOP. This decision was associated with onset of ROH (p < 0.001), underlying renal disease (p = 0.001) and presence of extrarenal manifestations (p = 0.02). Eight infants died in utero and 8 cases were lost to follow-up. Of the 49 liveborn children, 11 received palliative and 38 underwent active care. Overall survival of the latter group was 84.2% (n = 32) corresponding to 31% of all pregnancies (32 out of 103) analysed. One third of the surviving infants needed renal replacement therapy during the first 6 weeks of life. CONCLUSIONS: Over one third of pregnancies with ROH were terminated and the parental decision was based on risk factors associated with adverse outcome. Neonatal death was rare in the actively treated infants and the overall outcome promising. Our study illustrates that only careful analysis of the whole process, from prenatal diagnosis via parental decision-making to postnatal outcome, allows sensible interpretation of outcome data.
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Toma de Decisiones , Enfermedades Renales/epidemiología , Riñón/anomalías , Oligohidramnios/diagnóstico , Diagnóstico Prenatal/métodos , Aborto Inducido/estadística & datos numéricos , Adolescente , Adulto , Femenino , Humanos , Lactante , Mortalidad Infantil , Recién Nacido , Enfermedades Renales/etiología , Enfermedades Renales/terapia , Masculino , Oligohidramnios/mortalidad , Padres , Embarazo , Pronóstico , Terapia de Reemplazo Renal/estadística & datos numéricos , Estudios Retrospectivos , Factores de Riesgo , Tasa de Supervivencia , Adulto JovenRESUMEN
OBJECTIVE: To assess the outcome of 12 fetuses with bronchopulmonary sequestration (BPS) and massive pleural effusion after intrafetal vascular laser ablation (VLA). METHODS: All fetuses with BPS and massive pleural effusion that were treated with intrafetal VLA during a 5-year period (2012-2016) were reviewed for safety, intrauterine course, and postnatal outcome. RESULTS: In the study period, 12 fetuses with BPS were treated with VLA. In 7 (58.3%) fetuses, complete cessation of blood flow was achieved after the first VLA, while in 5 (41.7%) fetuses, residual perfusion of the feeding vessel was demonstrated at follow-up. A second intervention was successful in 4 of 5 (80%) fetuses. Overall, in 11 of 12 (91.7%) fetuses, complete coagulation of the feeding vessel could be achieved, followed by a reduction in size or complete resolution of the BPS. All 11 fetuses with successful prenatal intervention were live-born at a median gestational age of 39+1 (range, 37+5-41+2) weeks. Postnatally, 2 (18.2%) of the 11 newborns underwent sequestrectomy, as well as the preterm newborn on which a second fetal intervention was not feasible. CONCLUSION: VLA is an effective and safe treatment of BPS that appears to be of benefit in improving prognosis and decreasing the need for postnatal sequestrectomy.
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Secuestro Broncopulmonar/diagnóstico por imagen , Secuestro Broncopulmonar/terapia , Terapia por Láser/métodos , Derrame Pleural/diagnóstico por imagen , Derrame Pleural/terapia , Ultrasonografía Prenatal/métodos , Estudios de Cohortes , Femenino , Terapias Fetales/métodos , Humanos , Embarazo , Estudios Retrospectivos , Resultado del TratamientoAsunto(s)
Complicaciones Hematológicas del Embarazo/tratamiento farmacológico , Púrpura Trombocitopénica Trombótica/tratamiento farmacológico , Anticuerpos de Dominio Único/uso terapéutico , Factor de von Willebrand/antagonistas & inhibidores , Proteína ADAMTS13/inmunología , Manejo de la Enfermedad , Femenino , Humanos , Embarazo , Complicaciones Hematológicas del Embarazo/diagnóstico , Complicaciones Hematológicas del Embarazo/etiología , Resultado del Embarazo , Púrpura Trombocitopénica Trombótica/diagnóstico , Púrpura Trombocitopénica Trombótica/etiología , Anticuerpos de Dominio Único/administración & dosificación , Anticuerpos de Dominio Único/efectos adversos , Resultado del TratamientoRESUMEN
BACKGROUND: Differential diagnosis of prenatally detected hyperechogenic and enlarged kidneys can be challenging as there is a broad phenotypic overlap between several rare genetic and non-genetic disorders. Metabolic diseases are among the rarest underlying disorders, but they demand particular attention as their prognosis and postnatal management differ from those of other diseases. METHODS: We report two cases of cystic, hyperechogenic and enlarged kidneys detected on prenatal ultrasound images, resulting in the suspected diagnosis of autosomal recessive polycystic kidney disease (ARPKD). Postnatal clinical course and work-up, however, revealed early, neonatal forms of disorders of fatty acid oxidation (DFAO) in both cases, namely, glutaric acidemia type II, based on identification of the novel, homozygous splice-site mutation c.1117-2A > G in the ETFDH gene, in one case and carnitine palmitoyltransferase II deficiency in the other case. RESULTS: Review of pre- and postnatal sonographic findings resulted in the identification of some important differences that might help to differentiate DFAO from ARPKD. In DFAO, kidneys are enlarged to a milder degree than in ARPKD, and the cysts are located ubiquitously, including also in the cortex and the subcapsular area. Interestingly, recent studies have pointed to a switch in metabolic homeostasis, referred to as the Warburg effect (aerobic glycolysis), as one of the underlying mechanisms of cell proliferation and cyst formation in cystic kidney disease. DFAO are characterized by the inhibition of oxidative phosphorylation, resulting in aerobic glycolysis, and thus they do resemble the Warburg effect. We therefore speculate that this inhibition might be one of the pathomechanisms of renal hyperproliferation and cyst formation in DFAO analogous to the reported findings in ARPKD. CONCLUSIONS: Neonatal forms of DFAO can be differentially diagnosed in neonates with cystic or hyperechogenic kidneys and necessitate immediate biochemical work-up to provide early metabolic management.
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Ácidos Grasos/metabolismo , Riñón/diagnóstico por imagen , Errores Innatos del Metabolismo Lipídico/diagnóstico por imagen , Riñón Poliquístico Autosómico Recesivo/diagnóstico por imagen , Adulto , Flavoproteínas Transportadoras de Electrones/genética , Resultado Fatal , Femenino , Glutaratos/sangre , Humanos , Recién Nacido , Proteínas Hierro-Azufre/genética , Errores Innatos del Metabolismo Lipídico/metabolismo , Errores Innatos del Metabolismo Lipídico/terapia , Mutación , Oxidorreductasas actuantes sobre Donantes de Grupo CH-NH/genética , Riñón Poliquístico Autosómico Recesivo/metabolismo , Riñón Poliquístico Autosómico Recesivo/terapia , Embarazo , Ultrasonografía , Ultrasonografía Prenatal , Adulto JovenRESUMEN
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.