Prenatálně diagnostikované nitrolební krvácení u plodu je spojeno s širokým spektrem postižení novorozence, od zcela nekomplikovaného fyziologického vývoje až po závažnou tíži neurologického postižení či úmrtí. Incidence čítá 0,6–1/1 000 porodů. Nitrolební krvácení je v závislosti na anatomické lokalizaci klasifikováno na intraventrikulární, intracerebrální, cerebrální, subarachnoidální, subdurální. V kazuistice popisujeme raritní případ spontánního nitrolebního krvácení u plodu sledovaného pro hydrops, těhotenství komplikované pro polyhydramnion. Byla provedena rešerše literatury. V diskuzi prezentujeme diagnostický algoritmus a výsledky provedených vyšetření. Pro ucelení kazuistiky doplňujeme informaci o vedení porodu a časném úmrtí novorozence.
Prenatally diagnosed intracranial hemorrhage in the fetus is associated with a wide range of neonatal disorders, from completely uncomplicated physiological development to severe neurological impairment or death. The incidence is 0.6–1/1,000 births. Intracranial hemorrhage, depending on the anatomical location, is classified as intraventricular, intracerebral, cerebral, subarachnoid, and subdural. In this case report, we describe a rare case of spontaneous intracranial hemorrhage in a fetus monitored for hydrops and pregnancy complicated by polyhydramnios. A literature research was carried out. In the discussion, we present the diagnostic algorithm and the results of the examinations performed. To complete the case report, we add information about the management of childbirth and early death of the newborn.
- MeSH
- Adult MeSH
- Hydrops Fetalis * etiology MeSH
- Intracranial Hemorrhages * etiology mortality MeSH
- Infant Mortality MeSH
- Humans MeSH
- Palliative Care methods MeSH
- Polyhydramnios etiology MeSH
- Prenatal Diagnosis methods MeSH
- Hematoma, Subdural etiology mortality MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
The aim of our manuscript is to report of a successful perinatal outcome after treatment of acute polyhydramnios caused by duodenal atresia. A 34-year-old G3P1 was referred due to polyhydramnios in the 30th week of pregnancy. Ultrasound revealed polyhydramnios, amniotic fluid index (AFI) 28, and a double bubble sign that indicated duodenal atresia and dilatated oesophagus. In the 32nd week of gestation, the volume of amniotic fluid increases, AFI 35, along with symptoms of dyspnea and abdominal pain. Due to the clinical picture and the early gestational age, it was decided to perform an amnioreduction. In the 36th week of gestation cesarean section was performed. The baby was taken for exploratory laparotomy and found to have a simultaneous complete duodenal atresia and annular pancreas with associated dilated the first portion of the duodenum and the stomach. A side-to-side duodenoduodenostomy via single-layer hand-sewn anastomosis was performed over a transanastamotic feeding tube (TAFT). The postoperative course was uneventful. Amnioreduction is useful and safe in the treatment of acute polyhydramnios caused by duodenal atresia and thus has a significant role in prolonging gestation until fetal maturity.
- MeSH
- Cesarean Section adverse effects MeSH
- Adult MeSH
- Humans MeSH
- Amniotic Fluid MeSH
- Polyhydramnios * etiology therapy MeSH
- Pregnancy MeSH
- Pregnancy Outcome MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Pregnancy MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
Cíl studie: Přehled týkající se idiopatického polyhydramnia a s ním spojených komplikací. Typ studie: Přehledový článek. Název a sídlo pracoviště: Gynekologicko-porodnická klinika 1. LF UK a Nemocnice Na Bulovce, Praha a Gynekologicko-porodnická klinika UK 2. LF a FN Motol, Praha. Metodika: Literární rešerše s využitím databází Web of Science, Ovid, Cochrane, Medline a analýza článků publikovaných v recenzovaných časopisech s impakt faktorem v letech 1958–2020. Výsledky: Polyhydramnion se vyskytuje u 0,2-2 % těhotenství. Gravidity s polyhydramniem jsou častěji komplikovány abnormální polohou plodu nebo poruchou naléhání a mohou být spojeny s nepříznivými těhotenskými výsledky, zejména s vyšším výskytem intrauterinních úmrtí plodu, abrupcí placenty, indukovaných porodů, císařských řezů, prodlouženou první porodní dobou a dystokií ramének. Závěr: Středně těžké a těžké formy idiopatického polyhydramnia jsou spojeny s vyšším rizikem nepříznivých těhotenských výsledků, přičemž hlavním preventivním opatřením je intenzivní sledování těhotné ženy a plodu v těhotenství a v průběhu samotného porodu.
Objective: A comprehensive overview on idiopathic polyhydramnios and associated complications. Design: Review article. Setting: Department of Obstetrics and Gynaecology, First Faculty of Medicine, Charles University and Hospital Na Bulovce, Prague, Czech Republic; Department of Obstetrics and Gynaecology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic. Methods: Literature search using the databases Web of Science, Ovid, Cochrane, Medline databases and an analysis of articles published in peer-reviewed journals with impact factor in the years 1958–2020. Results: Polyhydramnios occurs in 0.2-2% of pregnancies. Pregnancies with polyhydramnios are more often complicated by abnormal foetal lie or presentation and, moreover, should be associated with adverse pregnancy outcomes, particularly with the higher incidence of intrauterine foetal death, placental abruption, labour induction, caesarean sections, prolonged first stage of labor and shoulder dystocia. Conclusion: The moderate and severe forms of idiopathic polyhydramnios are associated with the higher risk of adverse pregnancy outcomes that implies the need for intensive monitoring of a pregnant woman and the foetus both in pregnancy and during the delivery itself.
Prezentujeme našu skúsenosť so štyrmi prípadmi pitiev plodov s abnormálnym prenatálnym sonografickým vyšetrením a suspekciou na Noonanovej syndróm (NS). Jednalo sa o pitvy plodov v rozmedzí 17. až 24. týždňa gestácie (t.g.). Prenatálne ultrazvukové vyšetrenie vo všetkých prípadoch zaznamenalo zvýšené hodnoty nuchálnej translucencie (NT) a lymfatické vaky na krku. Niektoré plody prejavovali známky fetálneho hydropsu a bol zistený polyhydramnion. Nekroptickými vyšetreniami sme potvrdili súbor podobných znakov a vrodených vývojových vad, ktoré spadajú do základných charakteristík NS. Jednalo sa predovšetkým o známky rozvíjajúceho sa fetálneho hydropsu s nuchálnym edémom, v niektorých prípadoch až charakteru cystického hygromu, pleurálne a abdominálne výpotky, vrodené vývojové vady srdca a obličiek, vady skeletu a faciálny dysmorfizmus. U všetkých plodov bol vyšetrený karyotyp, bez nálezu aneuploidií chromozómov. Následná genetická analýza mutácií kauzálnych génov (hlavne PTPN11, KRAS, RAF 1,...), túto diagnózu potvrdila. Prípady demonštrujú širokú škálu znakov prenatálnej prezentácie tohoto syndrómu. Z dôvodu rozsiahlosti diferenciálnej diagnózy, je sumarizácia prenatálneho skríningu, nekroptického nálezu a molekulárne genetického vyšetrenia nevyhnutná.
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.
- MeSH
- Diagnosis, Differential MeSH
- Hydrops Fetalis diagnosis pathology MeSH
- Abortion, Induced MeSH
- Humans MeSH
- DNA Mutational Analysis MeSH
- Noonan Syndrome * diagnosis MeSH
- Autopsy MeSH
- Polyhydramnios diagnosis pathology MeSH
- Prenatal Diagnosis MeSH
- Congenital Abnormalities MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Female MeSH
Syndróm vrodenej obštrukcie dýchacích ciest (CHAOS) je zriedkavý ale život ohrozujúci stav, ktorý vyplýva z obštrukcie horných dýchacích ciest. Najčastejšou príčinou CHAOSu je atrézia hrtana, subglotická stenóza a kompletná diafragma hrtana. Vrodená cysta hrtana sa vyskytuje zriedkavo. Aj keď môže byť príčinou významnej obštrukcie horných dýchacích orgánov, väčšinou nespôsobuje významnú stenózu dýchacích ciest. U malých detí je často asymptomatická. Autori prezentujú raritný prípad novorodenca s vážnou obštrukciou horných dýchacích orgánov, ktorý bol podmienený veľkou kongenitálnou cystou hrtana.
Congenital high airway obstruction syndrome (CHAOS) is a rare but life-threatening condition that results from the obstruction of the upper airways. The most common cause for CHAOS are laryngeal atresia, subglottic stenosis and complete diaphragm of larynx. Congenital laryngeal cysts are rare condition. Although it may cause a significant obstruction of the upper airways, it generally does not significantly narrow the airways. Young children are often asymptomatic. In this report, a newborn with severe airway obstruction at birth, caused by a giant congenital laryngeal cyst, is presented.
- MeSH
- Anti-Bacterial Agents therapeutic use MeSH
- Cesarean Section MeSH
- Cysts * surgery congenital MeSH
- Larynx anatomy & histology diagnostic imaging MeSH
- Humans MeSH
- Laryngeal Diseases * diagnosis therapy MeSH
- Infant, Newborn MeSH
- Airway Obstruction pathology MeSH
- Oxygen Inhalation Therapy MeSH
- Pneumothorax MeSH
- Polyhydramnios MeSH
- Tracheostomy MeSH
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities MeSH
- Treatment Outcome MeSH
- Rare Diseases MeSH
- Check Tag
- Humans MeSH
- Infant, Newborn MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
Cieľ štúdie: Prezentácia kazuistiky prenatálne diagnostikovanej cystickej adenomatoidnej malformácie plodu (congenital cystic adenomatoid malformation – CCAM). Zhrnutie klinických a histologických obrazov cystickej adenomatoidnej malformácie u plodov; ultrazvuková diagnostika, prognóza, in utero dispenzarizácia, načasovanie pôrodu a postnatálny management v neonatálnej perióde. Typ štúdie: Kazuistika. Názov a sídlo pracoviska: Nemocnica s poliklinikou, Zvolen, a.s., gynekologicko-pôrodnícke oddelenie. Vlastné pozorovanie: Prípad prenatálne diagnostikovanej cystickej adenomatoidnej malformácie plodu. Záver: Kongenitálna cystická adenomatoidná malformácia je vzácna kongenitálna choroba. Môže byť vyjadrená rôznymi klinickými a histologickými obrazmi. Pri dnešnej dostupnosti ultrasonografického skríningu je diagnostika týchto vrodených chýb obvykle posunutá do prenatálneho obdobia.
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.
- MeSH
- Cystic Adenomatoid Malformation of Lung, Congenital * diagnosis classification MeSH
- Diagnosis, Differential MeSH
- Adult MeSH
- Fatal Outcome MeSH
- Fetal Hypoxia MeSH
- Humans MeSH
- Placenta pathology MeSH
- Lung Diseases MeSH
- Polyhydramnios pathology MeSH
- Prenatal Diagnosis MeSH
- Prognosis MeSH
- Receptors, Thyroid Hormone MeSH
- Pregnancy MeSH
- Thyroxine administration & dosage therapeutic use MeSH
- Thyroiditis drug therapy MeSH
- Rare Diseases MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Pregnancy MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
- MeSH
- Cesarean Section MeSH
- Adult MeSH
- Abortion, Induced MeSH
- Pregnancy Complications * MeSH
- Humans MeSH
- Mediastinal Neoplasms MeSH
- Fetal Diseases MeSH
- Polyhydramnios MeSH
- Parturition MeSH
- Patient Handoff MeSH
- Prenatal Diagnosis MeSH
- Primary Health Care MeSH
- Pregnancy MeSH
- Treatment Outcome MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Pregnancy MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
Cíl: Popis případu prenatální diagnostiky velkého placentárního chorioangiomu s příznivými výstupy. Design: Kazuistika. Pracoviště: Gynekologické a porodnické oddělení, Federální univerzita Triangulo Mineiro (UFTM), Uberaba-MG, Brazílie. Kazuistika: Placentární chorioangiom je nejčastější benigní nádor, ale chorioangiom velkých rozměrů se vyskytuje zřídka, incidence se pohybuje mezi 1:16,000 až 1:50,000 těhotenství. Zaznamenali jsme případ 18leté pacientky, poprvé těhotné, která podstoupila rutinní ultrazvukové vyšetření, při kterém byl zjištěn polyhydramnion spojený s placentární vaskulární lézí připomínající chorioangiom, což bylo zjištěno a potvrzeno i magnetickou rezonancí. Klíčová slova: chorioangiom, placentární, těhotenství, ultrazvuk, magnetická rezonance
Objective: To describe a case of prenatal diagnosis of a giant placental chorioangioma with favorable outcome. Design: A case report. Setting: Gynecology and Obstetrics Service, Federal University of Triângulo Mineiro (UFTM), Uberaba-MG, Brazil. Case report: The placental chorioangioma is the most common benign tumor, but the type giant has a small prevalence, ranging from 1:16.000 to 1:50.000 pregnancies. We reported a case of a patient aged 18, pregnant for the first time, who performed a routine obstetric ultrasound was found to have polyhydramnios associated with placental vascular lesions suggestive of chorioangioma also was defined by fetal magnetic resonance imaging and confirmed by pathological examination. Keywords: chorioangioma, placental, pregnancy, ultrasound, magnetic resonance imaging
- MeSH
- Cesarean Section MeSH
- Pregnancy Trimester, Second MeSH
- Hemangioma * blood supply ultrasonography MeSH
- Humans MeSH
- Magnetic Resonance Imaging MeSH
- Adolescent MeSH
- Pregnancy Complications, Neoplastic * ultrasonography MeSH
- Live Birth MeSH
- Placenta Diseases * ultrasonography MeSH
- Polyhydramnios etiology ultrasonography MeSH
- Term Birth MeSH
- Watchful Waiting MeSH
- Pregnancy MeSH
- Ultrasonography, Doppler, Color MeSH
- Ultrasonography, Prenatal MeSH
- Check Tag
- Humans MeSH
- Adolescent MeSH
- Pregnancy MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
Congenital gastric outlet obstruction is a rare condition representing only 1% of all gastrointestinal atresias. Prenatal diagnosis is uncommon and mostly confined to the third trimester of cases presenting a combination of polyhydramnios with dilated stomach. We report a case of congenital gastric outlet obstruction by pyloric membrane which was diagnosed prenatally in the third trimester by sonography and magnetic resonance imaging. The anomaly appeared to be isolated, thus a favorable outcome was expected. A baby girl weighing 3,430 g was delivered spontaneously at 36 weeks. Postnatal imaging methods confirmed the presence of a congenital gastric obstruction. 21 h after delivery, the baby underwent laparotomy, at which time a malrotation and pyloric membrane were found and resolved. The postoperative course was uneventful and the baby was discharged at the age of 18 days and remains well at controls.
- MeSH
- Humans MeSH
- Magnetic Resonance Imaging MeSH
- Gastric Outlet Obstruction complications pathology ultrasonography MeSH
- Polyhydramnios etiology ultrasonography MeSH
- Pregnancy MeSH
- Pregnancy Trimester, Third MeSH
- Ultrasonography, Prenatal MeSH
- Check Tag
- Humans MeSH
- Pregnancy MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
- MeSH
- Amniocentesis methods adverse effects utilization MeSH
- In Situ Hybridization, Fluorescence utilization MeSH
- Humans MeSH
- Chorionic Villi Sampling methods MeSH
- Amniotic Fluid cytology MeSH
- Polyhydramnios therapy MeSH
- Fetal Membranes, Premature Rupture diagnosis MeSH
- Prenatal Diagnosis methods MeSH
- Pregnancy Reduction, Multifetal methods MeSH
- Rho(D) Immune Globulin therapeutic use MeSH
- Ultrasonography, Prenatal methods utilization MeSH
- Check Tag
- Humans MeSH
- Female MeSH