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BACKGROUND: Prenatal diagnosis of congenital malformations is considered favorable. Esophageal atresia (EA) is prenatally detected in 10-40% of patients. The aims of our study were to assess factors influencing the prenatal detection rate and to study the outcome in EA patients with and without prenatal diagnosis. METHOD: We included 136 patients in two time periods, group 1 (1996-2002, n = 68) and group 2 (2014-2020, n = 68). We registered clinical variables; prenatal signs, perinatal and postnatal outcome from the electronic patient record. RESULTS: Twenty-five patients (18%) had a prenatal diagnosis of EA, significantly more during 2014-2020 (28%), than during 1996-2002 (9%). Patients with EA type A or B and with associated anomalies had increased likelihood of prenatal diagnosis, odds ratio (OR) 9.00 (1.99-40.69) and 3.53 (1.24-10.06), respectively. Among the 25 patients with prenatal diagnosis all had polyhydramnios and 16 had small/absent stomach. Prenatally diagnosed patients arrived significantly earlier at the surgical unit (median 2 h (2 h-1 days) vs 21 h (2 h-1275 days)), had more delayed primary anastomosis (OR 8.80 (2.68-28.92)) and anastomotic stricture (OR 3.11 (1.20-8.04)), longer length of stay (median 62 days (11-212 days) vs 20 days (2-270 days)) and longer time on ventilator (median 5 days (1-25 days) vs 1.5 days (0.5-33 days)) compared to patients without prenatal diagnosis. In multivariate analysis prenatal diagnosis predicts length of stay. CONCLUSION: Prenatally diagnosed EA patients have more; type A and B malformations, associated anomalies and neonatal morbidity. Consequences of the assumed benefits of prenatal diagnosis; opportunity of early arrival to surgical care and prenatal counselling, must be further studied.
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We present our experience with four cases of fetal autopsies with abnormal prenatal ultrasound findings and suspicion of Noonan syndrome. These were fetuses from the 17th to the 24th age of gestation (GA). In all cases, prenatal ultrasound examination recorded increased nuchal translucency (NT) and presence of lymphatic neck sacs. Some fetuses showed signs of fetal hydrops and polyhydramnion was found. Similar signs and congenital developmental defects were confirmed in the autopsy examination. These were primarily signs of developing fetal hydrops with increased nuchal edema, in some cases up to the character of cystic hygroma, pleural and abdominal effusions, congenital heart and kidney defects, skeletal defects and facial dysmorphism. A karyotype was examined in all cases without chromosome aneuploidy. The diagnosis of NS was confimed by subsequent genetic analysis of causal gene mutations (mainly PTPN11, KRAS, RAF 1,). Our cases demonstrate a wide range of signs of prenatal presentation of this syndrome. Because of wide differential diagnosis, summarizing prenatal ultrasound findings, autopsy examination and molecular genetic testing is essential.
Asunto(s)
Enfermedades Fetales , Hidropesía Fetal , Linfangioma Quístico , Síndrome de Noonan , Femenino , Enfermedades Fetales/diagnóstico , Humanos , Hidropesía Fetal/diagnóstico , Linfangioma Quístico/diagnóstico , Síndrome de Noonan/diagnóstico , Medida de Translucencia Nucal , Embarazo , Ultrasonografía PrenatalRESUMEN
We report a case of a monochorionic diamniotic twin diagnosed with twin-twin transfusion syndrome (TTTS; stage 3) with co-existing severe cerebral damage in the donor twin at 18 + 4 weeks' gestation. After counselling, the parents opted for selective foeticide of the donor twin. For the procedure, radiofrequency ablation (RFA) was used. Serial ultrasound examinations at 20 + 1 and 21 + 1 weeks' gestation showed good recovery of the ex-recipient, after which the patient was sent back to the referring hospital. At 29 + 5 weeks' gestation, an unexpected foetal death was diagnosed. On macroscopic placental examination, (iatrogenic) monoamnionicity was detected. In addition, the umbilical cord of the recipient was found to be constricted by the macerated umbilical cord of the ex-donor. This case demonstrates that iatrogenic monoamnionicity can be a serious complication of RFA in monochorionic twins complicated by TTTS, with a subsequent risk for cord entanglement leading to a fatal outcome for the remaining co-twin. Although the actual incidence of iatrogenic monoamnionicity after RFA remains unknown, increased attention to the intactness of the inter-twin membrane even weeks after the RFA may be required.
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Muerte Perinatal/etiología , Reducción de Embarazo Multifetal/efectos adversos , Ablación por Radiofrecuencia/efectos adversos , Adulto , Femenino , Transfusión Feto-Fetal/cirugía , Humanos , Placenta/irrigación sanguínea , Complicaciones Posoperatorias , Embarazo , Cordón Umbilical/cirugíaRESUMEN
Myelomeningocele (MMC) is a congenital disease without genetic abnormalities. Neurological symptoms are irreversibly impaired after birth, and no effective treatment has been reported to date. Only surgical repairs have been reported so far. In this study, we performed antenatal treatment of MMC with an artificial skin using induced pluripotent stem cells (iPSCs) generated from a patient with Down syndrome (AF-T21-iPSCs) and twin-twin transfusion syndrome (AF-TTTS-iPSCs) to a rat model. We manufactured three-dimensional skin with epidermis generated from keratinocytes derived from AF-T21-iPSCs and AF-TTTS-iPSCs and dermis of human fibroblasts and collagen type I. For generation of epidermis, we developed a protocol using Y-27632 and epidermal growth factor. The artificial skin was successfully covered over MMC defect sites during pregnancy, implying a possible antenatal surgical treatment with iPSC technology.
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Líquido Amniótico/citología , Células Madre Pluripotentes Inducidas/trasplante , Meningomielocele/terapia , Amidas/farmacología , Animales , Moléculas de Adhesión Celular/genética , Técnicas de Cultivo de Célula , Diferenciación Celular/efectos de los fármacos , Células Cultivadas , Reprogramación Celular , Modelos Animales de Enfermedad , Síndrome de Down/patología , Células Epidérmicas , Factor de Crecimiento Epidérmico/farmacología , Epidermis/metabolismo , Proteínas de la Matriz Extracelular/genética , Femenino , Terapias Fetales , Transfusión Feto-Fetal/terapia , Humanos , Células Madre Pluripotentes Inducidas/citología , Células Madre Pluripotentes Inducidas/metabolismo , Cariotipificación , Queratina-14/metabolismo , Queratinocitos/citología , Queratinocitos/efectos de los fármacos , Queratinocitos/metabolismo , Meningomielocele/patología , Polimorfismo de Nucleótido Simple , Embarazo , Piridinas/farmacología , Ratas , Piel/patología , Factores de Transcripción/genética , Factores de Transcripción/metabolismo , Secuenciación del ExomaRESUMEN
OBJECTIVE: Presentation of prenataly diagnosed fetus with congenital cystic adenomatoid malformation (CCAM). Summary of clinical and histological findings in fetuses with CCAM, in utero ultrasound diagnosis, prognosis, in utero dispensarisation, timing of delivery and postanatal management. DESIGN: Case report. SETTINGS: Nemocnica s poliklinikou, Zvolen, a.s., gynekologicko-pôrodnícke oddelenie. CASE REPORT: In this article we would like to introduce the case report of fetus suffering from CCAM. CONCLUSIONS: Congenital cystic adenomatoid malformation is a rare congenital disorder. The clinical and histological findings can vary. The diagnose can be made in prenatal period due to the availability of prenatal ultrasound examination.