RESUMEN
OBJECTIVES: We analyze the incidence, etiology, outcome of pregnancy and therapeutic regimes of prenatally and postnatally detected isolated and complex congenital talipes equinovarus in a tertiary referral center. METHODS: We included fetuses with at least one prenatal ultrasound examination conducted by a sub-specialized practitioner for prenatal medicine. Retrospective evaluation was made of prenatal, obstetrical and neonatal/pediatric records and where applicable pathological records or records of the involved department of pediatric surgery with a minimum follow-up of 24 months. RESULTS: 106 children with uni- or bilateral CTEV were detected prenatally in a period of 17 years. There were 55 liveborn infants. The majority of the liveborn infants had isolated CTEV (37/55), whereas in the group of the stillborns most of the individuals suffered from complex CTEV (46/51). The gender-distribution showed a majority of male individuals in the liveborn group with isolated CTEV 22/37 and 11/18 in fetuses with non-isolated CTEV. Accordingly, 2/5 fetuses with isolated CTEV and 25/46 with complex CTEV in the group of the terminated pregnancies were males. 33/49 children were treated in a conservative manner, 16/49 needed additional surgery on the CTEV. Twenty-nine of forty-nine had excellent and 19/49 very good outcome. One of forty-nine had a good outcome. Fifteen of fifty-five liveborn children suffered from severe additional anomalies, like arthrogryposis multiplex congenita and spina bifida aperta. In the group of the stillborns all non-isolated CTEV were cases with severe additional anomalies (46/51). Mean time of prenatal diagnosis was 23(3/7) gestational weeks. Six cases with CTEV were detected postnatally only. There was one prenatal false positive diagnosis. CONCLUSIONS: Prenatal detection of CTEV is feasible during pregnancy. The outcome of children with isolated CTEV is good. In complex CTEV outcome depends on the additional anomalies the fetus has. In isolated CTEV fetal karyotyping should be offered; in complex CTEV fetal karyotyping is mandatory. The prenatal diagnosis of an (isolated) CTEV should always include an appropriate parental counseling together with pediatric orthopedics and pediatric surgeons. Repeated ultrasound scans can confirm diagnosis and reduce the risk of misjudgement of additional fetal anomalies as those may be frequently seen in fetuses with CTEV.
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Pie Equinovaro/diagnóstico por imagen , Adolescente , Adulto , Pie Equinovaro/epidemiología , Femenino , Alemania/epidemiología , Humanos , Nacimiento Vivo , Masculino , Persona de Mediana Edad , Embarazo , Mortinato , Ultrasonografía Prenatal , Adulto JovenRESUMEN
OBJECTIVES: We analyse the prenatal detection and pregnancy outcome of twin reversed arterial perfusion syndrome (TRAP-sequence) in monochorionic twin pregnancies. METHODS: We included all cases in which the prenatal diagnosis of a TRAP-sequence had been established and reviewed the prenatal, obstetrical, and pathological records of the acardiac twin as well as the neonatal/pediatric records of the donor twin. Minimal follow-up for the donor twin after birth was 6 months. RESULTS: We detected six cases of TRAP-sequence in 412 examined monochorionic multiple pregnancies (incidence 1.46%) Mean gestational age at diagnosis was 20.4 (13.1-28.0) gestational weeks. All donor twins survived without detectable mid- or long-term sequelae. There was neither missed prenatal diagnosis nor a false-positive diagnosis of TRAP-sequence. Mean birthweight of the acardiac twins was 1,400 g (830-2800 g). There was an uneventful medical history in the maternal records of all included women. Fetal karyotype was available for 5/6 twin-pairs, all revealing a normal distribution of the chromosomes. All acardiac twins had post-mortem examination with specification of the subtypes of acardiac twin displaying 3/6 acardius acephalus, 2/6 acardius amorphus, and 1/6 acardius anceps. CONCLUSIONS: The antenatal diagnosis of TRAP-sequence is feasible and can be established during the first-trimester-screening. The discrimination of the adequate time to end the pregnancy, though a crucial concern, remains a challenging question. Future studies should address this topic.
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Peso al Nacer , Transfusión Feto-Fetal/diagnóstico por imagen , Embarazo Triple , Embarazo Gemelar , Ultrasonografía Prenatal , Adulto , Cesárea , Femenino , Transfusión Feto-Fetal/genética , Transfusión Feto-Fetal/patología , Estudios de Seguimiento , Humanos , Recién Nacido , Cariotipo , Masculino , Embarazo , Resultado del Embarazo , Estudios RetrospectivosRESUMEN
OBJECTIVES: To evaluate the prenatal features, associated anomalies and the postnatal management in fetuses with prenatally detected double-outlet right ventricle (DORV). METHODS: Retrospective analysis of prenatal, pediatric and cardiosurgical records for all fetuses with prenatally diagnosed DORV at a single tertiary referral center. RESULTS: 21 cases were detected prenatally with DORV (average gestational age 23(3/7) weeks). Fetal karyotyping was available in all cases revealing 3 cases with trisomy 18 and one fetus with trisomy 21. 10/21 (47.6%) cases had additional cardiac anomalies only, one fetus (4.8%) had extra-cardiac anomalies only. 8/21 cases (38.1%) presented with both additional cardiac- and extra-cardiac anomalies. A total of 13/21 (61.9%) fetuses were live-born. Average gestational age at delivery was 37(3/7) gestational weeks. There were four Rastelli maneuvers, one Fontan intervention and three children with resection of a coarctation of the aorta among the group of the surviving infants. CONCLUSIONS: Prenatal, sonographic detection of DORV is feasible. The majority of the cases shows a normal karyotype. Outcome strongly depends on the presence and severity of additional anomalies of the fetus. Surgical intervention in DORV can lead to a favorable outcome in simple DORV. DORV not aggravated by additional defects seems to be no contraindication for a vaginal delivery.
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Ventrículo Derecho con Doble Salida/diagnóstico por imagen , Ultrasonografía Prenatal , Cromosomas Humanos Par 18 , Ventrículo Derecho con Doble Salida/genética , Ventrículo Derecho con Doble Salida/cirugía , Síndrome de Down/complicaciones , Síndrome de Down/genética , Femenino , Edad Gestacional , Humanos , Recién Nacido , Cariotipificación , Masculino , Embarazo , Resultado del Embarazo , Estudios Retrospectivos , Trisomía/genéticaRESUMEN
We report on the rare case of prenatally detected Taussig-Bing anomaly complicated by a coarctation of the aorta and a singular coronary artery in an otherwise healthy boy. After initially successful arterial switch, a high-grade stenosis of the singular coronary artery leads to a severe biventricular heart failure 5 weeks after the procedure. Although immediate surgical intervention was carried out, the boy died due to already severely impaired myocardial function. This review discusses the perinatal management, typical diagnostic features, and frequent additional anomalies, as well as surgical strategies in complex Taussig-Bing anomaly.
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Coartación Aórtica/diagnóstico , Estenosis Coronaria/diagnóstico , Ventrículo Derecho con Doble Salida/diagnóstico , Defectos del Tabique Interatrial/diagnóstico , Adulto , Ventrículo Derecho con Doble Salida/cirugía , Ecocardiografía , Resultado Fatal , Femenino , Insuficiencia Cardíaca/etiología , Insuficiencia Cardíaca/mortalidad , Insuficiencia Cardíaca/cirugía , Humanos , Recién Nacido , Masculino , Atención Perinatal , Complicaciones Posoperatorias , Embarazo , Diagnóstico Prenatal , Ultrasonografía Doppler en ColorRESUMEN
Obstetric sonographic imaging in pregnant women is adversely affected by obesity with a negative impact on the detection rate of congenital anomalies. This review aims to analyze relevant data regarding this issue and to discuss clinical and technical problems associated with sonographic examination of obese pregnant women.
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Obesidad/complicaciones , Complicaciones del Embarazo/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Índice de Masa Corporal , Femenino , Humanos , EmbarazoRESUMEN
This report describes the perinatal management of a prenatally detected choroid plexus papilloma in an otherwise unaltered singleton pregnancy of a healthy woman. After elective Caesarean section, a successful embolization of the feeding vessel followed by a craniotomy and complete removal of the remaining tumor were performed. Histological examination confirmed the diagnosis. One-, 2-, and 3-year follow-up showed a normal development of the girl with a regular neuropediatric status. A review of literature including related papers listed in PubMed between 1985 and 2009 are included.