INTRODUCTION: Sacrococcygeal teratoma (SCT) is the most common congenital tumor. The incidence of malignant types is rare but increases with late detection or in case of relapse. Prenatal diagnosis is based on ultrasound examination and magnetic resonance imaging (MRI). Since this is a rare congenital anomaly, we should report all cases to improve prenatal diagnosis and postnatal management. MATERIAL AND METHODS: Retrospective analysis of sixteen cases of sacrococcygeal teratoma delivered and treated at the University Hospital Brno between 2005 and 2020. The following criteria were evaluated: gestational week of the primary diagnosis, exact description of ultrasound findings, pregnancy management, delivery mode, correlation of prenatal ultrasound with postnatal findings in the newborn, as well as the occurrence of early and late complications in newborns and children. RESULTS: Out of sixteen cases, seven cases (43.8%) were indicated for pregnancy termination based on ultrasound findings, the parent's decision, and an estimation of an adverse pregnancy outcome. In nine cases (56.2%), the pregnancy continued and was ended by delivery. In one case, there was an early postnatal death of a newborn after birth in the 25th week of gestation. In eight cases, live fetuses were born in which the tumor was surgically removed between day 1 and 14 months after birth. There was a strong correlation between the tumor description made by prenatal ultrasound diagnosis and related severe complications in newborns. The incidence of severe early and late complications in ongoing pregnancies was very low-only one case of infection in the surgical wound requiring reoperation (12.5%) was described. In two patients (25%), a transient stoma establishment was necessary for secondary ileus. One case of recurrence of the disease at two years of age occurred, requiring the administration of chemotherapy (12.5%), and one patient has mild persistent urinary incontinence. CONCLUSION: Sacrococcygeal teratoma is one of the rarest congenital malformations. A detailed prenatal ultrasound examination is essential to estimate the pregnancy prognosis. The most predictive ultrasound predictor of favorable early and late postnatal outcomes and long-term child development is the presence of cystic sacrococcygeal formation, the most common tumor type, and the absence of signs of cardiac failure due to fetal anemia. In these cases, with early surgical treatment provided, the incidence of severe complications and long-term consequences in children is very low, and parents should be informed during prenatal counseling. It is necessary to register all the SCT cases due to the rarity of this congenital anomaly for further statistical analysis of the importance of ultrasound markers.

• MeSH
• Adult MeSH
• Gestational Age MeSH
• Humans MeSH
• Magnetic Resonance Imaging MeSH
• Infant, Newborn MeSH
• Prognosis MeSH
• Retrospective Studies MeSH
• Sacrococcygeal Region * diagnostic imaging   MeSH
• Pregnancy MeSH
• Teratoma * diagnostic imaging   surgery   congenital   MeSH
• Ultrasonography, Prenatal * MeSH
• Pregnancy Outcome MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Infant, Newborn MeSH
• Pregnancy MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Review MeSH

BACKGROUND: In recent decades, magnetic resonance imaging (MRI) has gained prominence as a standard diagnostic method for preoperative assessment in patients with anorectal malformations and a colostomy, with the potential to replace the classic fluoroscopic distal pressure colostogram (FDPC). Three MRI techniques are available: MRI-distal pressure colostogram with gadolinium (MRI-DPCG) or saline (MRI-DPCS) instillation into the colostomy and native MRI without colostomy instillation. OBJECTIVE: To evaluate and compare the diagnostic accuracy of MRI (native MRI, MRI-DPCG and MRI-DPCS) in the preoperative workup of boys with an anorectal malformation and a colostomy and to compare it to FDPC. MATERIALS AND METHODS: Sixty-two boys with preoperative MRI using one of the three approaches and 43 with FDPC met the inclusion criteria for this retrospective study. The presence and localization of rectal fistulas according to the Krickenbeck classification were evaluated and compared with intraoperative findings. RESULTS: The accuracy of fistula detection for MRI in general (regardless of the technique), MRI-DPCS, MRI-DPCG, native MRI and FDPC was 95% (59/62, P<0.001), 100% (12/12, P=0.03), 100% (30/30, P<0.001), 85% (17/20, P=0.41) and 72% (31/43, P=0.82), respectively. The accuracy of describing fistula type in patients with a correctly detected fistula using these methods was 96% (45/47, P<0.001), 100% (9/9, P<0.001), 100% (23/23, P<0.001), 87% (13/15, P<0.001) and 67% (13/21, P=0.002), respectively. CONCLUSION: MRI is a reliable method for detecting and classifying fistulas in boys with an anorectal malformation and a colostomy and can be considered the modality of first choice for preoperative workup.

• MeSH
• Anorectal Malformations * diagnostic imaging   surgery   MeSH
• Colostomy MeSH
• Humans MeSH
• Magnetic Resonance Spectroscopy MeSH
• Magnetic Resonance Imaging methods   MeSH
• Rectal Fistula * surgery   MeSH
• Rectum diagnostic imaging   surgery   abnormalities   MeSH
• Retrospective Studies MeSH
• Check Tag
• Humans MeSH
• Male MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

BACKGROUND: Individuals with congenital solitary functioning kidney (SFK) are at an increased risk of kidney damage. According to some studies, the risk is higher in unilateral kidney agenesis (UKA) than in unilateral multicystic dysplastic kidney (UMCDK). We hypothesized that with early detection of children with UKA and UMCDK, there would be no difference in the presence of hypertension, proteinuria, and reduced glomerular filtration rate (GFR) between UKA and UMCDK. METHODS: Based on a long-term follow-up protocol, we evaluated a cohort of 160 children followed from birth for SFK (84 with UKA and 76 with UMCDK) detected by prenatal or routine neonatal ultrasound screening. Hypertension, proteinuria, and reduced GFR were monitored as markers of kidney damage. We compared the characteristics and outcomes of the subgroups of children with UKA and UMCDK. RESULTS: GFR was reduced in 42 (26.2%) children, of whom 41 showed only mild reduction. Hypertension and proteinuria were found in 22 (13.8%) and 14 (8.8%) children, respectively. Combined kidney damage was present in 57 (35.6%) children. The UMCDK and UKA subgroups differed in GFR at final examination, with UMCDK patients being significantly more likely to have normal GFR compared to UKA patients (82% vs. 67%; p = 0.039). CONCLUSIONS: One third of the children showed signs of SFK damage, albeit mild. Patients with UKA had reduced GFR significantly more often than those with UMCDK, but did not differ in the rates of hyperfiltration injury or congenital anomalies of the kidneys and urinary tract (CAKUT) in SFK.

• MeSH
• Early Diagnosis * MeSH
• Child MeSH
• Glomerular Filtration Rate * MeSH
• Hypertension diagnosis   etiology   epidemiology   physiopathology   MeSH
• Infant MeSH
• Kidney * abnormalities   physiopathology   diagnostic imaging   MeSH
• Humans MeSH
• Multicystic Dysplastic Kidney * diagnosis   complications   physiopathology   MeSH
• Follow-Up Studies MeSH
• Kidney Diseases congenital   MeSH
• Infant, Newborn MeSH
• Neonatal Screening methods   MeSH
• Child, Preschool MeSH
• Prognosis MeSH
• Proteinuria * etiology   diagnosis   MeSH
• Solitary Kidney * complications   diagnosis   physiopathology   MeSH
• Congenital Abnormalities diagnosis   diagnostic imaging   MeSH
• Check Tag
• Child MeSH
• Infant MeSH
• Humans MeSH
• Male MeSH
• Infant, Newborn MeSH
• Child, Preschool MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Comparative Study MeSH

OBJECTIVE: To determine the added value of fetal magnetic resonance imaging (MRI) when clarifying a suspected anomaly detected by mid-trimester scan. METHODS: Women attending two centers of fetal medicine between January 2017 and December 2021 were identified. The centers carried out routine mid-trimester ultrasound scans to detect fetal anomalies. Those with a suspected anomaly which required further clarification were referred for fetal magnetic resonance imaging (MRI). The medical records of all referred women were examined to determine the anomalies found at scan, MRI and termination of pregnancy or delivery. A total of 9571 women had a routine mid-trimester scan and an anomaly was either diagnosed or suspected in 449 (4.7%); an MRI examination was made in 76 cases (0.79%). RESULTS: MRI confirmed the presence of an abnormality in 61 referrals (80%) and failed to yield a result in one case. Outcome information was available for 69 cases: the MRI confirmation rate was 89% (48/54) in those with abnormal outcome and 40% (6/15) if the outcome was normal, P.

• MeSH
• Adult MeSH
• Pregnancy Trimester, Second * MeSH
• Humans MeSH
• Magnetic Resonance Imaging * MeSH
• Prenatal Diagnosis methods   MeSH
• Pregnancy MeSH
• Ultrasonography, Prenatal * methods   MeSH
• Congenital Abnormalities * diagnostic imaging   MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Pregnancy MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Multicenter Study MeSH

Prenatální kardiologie je specializovaná oblast dětské kardiologie, která se zaměřuje na diagnostiku a léčbu onemocnění srdce u plodu, nejčastěji srdečních vad. Prenatální detekce významných srdečních vad v České republice je vysoká a její úspěšnost převyšuje v současnosti 80 %. Ukončení těhotenství z důvodu významných srdečních vad pokleslo ze 70 % v roce 1991 na 43 % v roce 2023, ale zůstává vysoké u jednokomorových vad a přítomných extrakardiálních anomálií. Zahájení screeningu srdce v 1. trimestru vedlo ke zvýšenému ukončování vad v nízkém gestačním stáří, ale neovlivnilo celkově klesající trend v ukončování těhotenství. U srdečních vad s příznivou prognózou frekvence ukončení těhotenství významně poklesla a v dnešní době je zcela výjimečná. Tento článek podává přehled o pokroku v prenatální detekci srdečních onemocnění a léčbě arytmií a některých specifických srdečních vad, které se staly rutinní součástí klinické praxe.

Prenatal cardiology is a subspecialty of pediatric cardiology focused mainly on the diagnosis and treatment of heart lesions, predominantly congenital heart defects. A nationwide prenatal detection of major congenital heart defects in the Czech Republic exceeded 80 % in the current era. Termination of pregnancy of major heart defects has decreased from 70 % in 1991 to 43 % in 2023 but remains high in fetuses with univentricular heart and those major heart defects with associated comorbidities. The introduction of first trimester screening resulted in higher termination rate at early stage but did not revert the overall decreasing trend in termination of pregnancy. In cardiac abnormalities with favorable outcome, the termination rate decreased significantly, becoming rather exceptional in recent years. This review focuses on advances in prenatal detection of heart anomalies and treatment of arrhythmias and some specific heart defects that are increasingly used in clinical practice.

• MeSH
• Echocardiography methods   MeSH
• Humans MeSH
• Fetus MeSH
• Prenatal Diagnosis * MeSH
• Tachycardia diagnosis   MeSH
• Heart Defects, Congenital * diagnosis   therapy   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Review MeSH

Cíle: Retrospektivní epidemiologická analýza četnosti a poměru pohlaví u dětí narozených s diagnózou vro- zeného hydrocefalu v České republice v období 1961–2020. Metodika: V práci jsou využita data z Národního registru vrozených vad vedeného v rámci Registru reprodukčního zdraví v Ústavu zdravotnických informací a statistiky České republiky (ÚZIS ČR) a data z předchozích analýz v rámci grantového projektu našeho kolektivu. Dalším zdrojem dat byly údaje o prenatální diagnostice ze Společnosti lékařské genetiky a genomiky. Výsledky: V období 1961-2020 se v České republice narodilo více než 7,5 milionu dětí. Z toho u 2572 narozených dětí byl zachycen vrozený hydrocefalus, u 1369 chlapců, u 1185 dívek a v 18 případech bylo pohlaví neznámé/neurčeno. V 677 případech byla diagnóza vrozeného hydrocefalu zjištěna prenatálně a následně byla gravidita z genetické indikace ukončena. Incidence vrozeného hydrocefalu v období 1961-1965 je významně vyšší než v ostatních obdobích. Dále do roku 1995 byl zjištěn sestupný trend a po roce 1995 incidence opět stoupá. Podíl prenatální diagnostiky průběžně stoupal a dosáhl maxima v posledních letech sledovaného období. Z celkového počtu narozených dětí bez vrozených vad bylo 51,22 % chlapců a 48,78 % děvčat. Mezi dětmi narozenými s vrozeným hydrocefalem bylo oproti tomu statisticky významně více chlapců (53,60 %) a méně dívek (46,40 %), P=0,016. Podrobnější analýza ukázala, že poměr pohlaví u narozených s vrozeným hydrocefa- lem se v průběhu času mění. Podíl chlapců mezi dětmi narozenými s hydrocefalem byl v prvních dvou, stejně jako posledních dvou dekádách oproti dětem bez VV mírně a nevýznamně vyšší. V období 1981–1990 byl podíl chlapců mezi dětmi s danou VV statisticky významně vyšší než mezi dětmi bez VV (cca 56 % vs. 51 %). Naopak v období 1991–2000 byl podíl chlapců mezi dětmi s danou VV lehce a statisticky nevýznamně nižší než mezi dětmi bez VV. Závěr: Celková incidence vrozeného hydrocefalu v průběhu sledovaného období klesla na nejnižší hodnoty na začátku 90. let minulého století, pak se opět zvyšovala. Za zvýšením počtu případů stojí s největší pravděpodobností rozvoj prenatální i postnatální ultrazvukové diagnostiky. Dále jsme prokázali, že mezi dětmi s hydrocefalem bylo statisticky významně více chlapců oproti dětem narozeným bez VV.

Objectives: Retrospective epidemiological analysis of the frequency and sex ratio of children born with a diagnosis of congenital hydrocephalus in the Czech Republic in the period 1961–2020. Methodology: The work uses data from the National Registry of Congenital Anomalies maintained within the National Registry of Reproductive Health at the Institute of Health Information and Statistics of the Czech Republic (ÚZIS ČR) and data from previous grant-supported analyses of our team. Another source of data was prenatal diagnosis data from the Czech Society of Medical Genetics. Results: In the period 1961-2020, more than 7.5 million children were born in the Czech Republic. Of these, 2,572 children were born with congenital hydrocephalus, 1,369 were boys, 1,185 were girls, and in 18 cases the gender was unknown/undetermined. In 677 cases, the diagnosis of congenital hydrocephalus was established prenatally and the pregnancy was subsequently electively terminated. The incidence of congenital hydrocephalus in the period 1961-1965 is significantly higher than in other periods. Furthermore, a downward trend was detected until 1995, and after 1995 the incidence rises again. The proportion of prenatal diagnostics gradually increased and reached a peak in the last years of the observed period. Of the total number of children born without birth defects, 51.22% were boys and 48.78% were girls. In the case of children born with congenital hydrocephalus, there were statistically significantly more boys (53.60%) and less girls (46.40%), P=0.016. A more detailed analysis showed that the sex ratio of those born with congenital hydrocephalus changes over time. The proportion of boys among children born with hydrocephalus was slightly and insignificantly higher in the first two, as well as the last two decades compared to children without hydrocephalus. In the period 1981 – 1990, the share of boys among children with a given anomaly was statistically significantly higher than among children without anomalies (approx. 56% vs. 51%). On the contrary, in the period 1991–2000, the share of boys among children with a given anomaly was slightly lower than among children without anomalies. The difference is not statistically significant. Conclusion: The overall incidence of congenital hydrocephalus during the monitored period decreases to the lowest values in the early 90s of the last century, then increases again. The increase in the number of cases is most likely due to the development of prenatal and postnatal ultrasound diagnostics. Furthermore, we demonstrated statistically significantly more affected boys compared to the children born without birth defects.

Durální arteriovenózní fistula (DAVF) je vzácnou, v diferenciální diagnóze často opomíjenou příčinou pulzatorického tinnitu. Symptomatologie, klinická relevance a terapie těchto cévních malformací závisí na typu, determinovaném zejména charakterem jejich žilního toku. V diagnostice hraje rozhodující roli digitální subtrakční angiografie. V práci popisujeme vlastní zkušenosti s DAVF a v přehledu literatury se zabýváme klinickými aspekty těchto potenciálně velmi závažných anomálií.

Dural arteriovenous fistula (DAVF) is a rare condition not constantly taken into consideration in the differential diagnosis of pulsatory tinnitus. Symptomatology, clinical relevance, and therapy of DAVF depend on its type determined primarily by the characteristics of venous drainage. For reliable detection of DAVF, digital subtraction angiography is necessary. Here we report one case of DAVF and comment on clinical aspects of that potentially very serious anomaly.

• Keywords
• pulzatorický tinnitus,
• MeSH
• Central Nervous System Vascular Malformations * diagnostic imaging   diagnosis   classification   complications   MeSH
• Computed Tomography Angiography methods   MeSH
• Diagnosis, Differential MeSH
• Angiography, Digital Subtraction methods   MeSH
• Humans MeSH
• Cerebrovascular Circulation MeSH
• Aged MeSH
• Tinnitus * diagnosis   etiology   classification   MeSH
• Check Tag
• Humans MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Case Reports MeSH
• Research Support, Non-U.S. Gov't MeSH

Most patients with congenital anomalies of the kidney and urinary tract (CAKUT) remain genetically unexplained. In search of novel genes associated with CAKUT in humans, we applied whole-exome sequencing in a patient with kidney, anorectal, spinal, and brain anomalies, and identified a rare heterozygous missense variant in the DACT1 (dishevelled binding antagonist of beta catenin 1) gene encoding a cytoplasmic WNT signaling mediator. Our patient's features overlapped Townes-Brocks syndrome 2 (TBS2) previously described in a family carrying a DACT1 nonsense variant as well as those of Dact1-deficient mice. Therefore, we assessed the role of DACT1 in CAKUT pathogenesis. Taken together, very rare (minor allele frequency ≤ 0.0005) non-silent DACT1 variants were detected in eight of 209 (3.8%) CAKUT families, significantly more frequently than in controls (1.7%). All seven different DACT1 missense variants, predominantly likely pathogenic and exclusively maternally inherited, were located in the interaction region with DVL2 (dishevelled segment polarity protein 2), and biochemical characterization revealed reduced binding of mutant DACT1 to DVL2. Patients carrying DACT1 variants presented with kidney agenesis, duplex or (multi)cystic (hypo)dysplastic kidneys with hydronephrosis and TBS2 features. During murine development, Dact1 was expressed in organs affected by anomalies in patients with DACT1 variants, including the kidney, anal canal, vertebrae, and brain. In a branching morphogenesis assay, tubule formation was impaired in CRISPR/Cas9-induced Dact1-/- murine inner medullary collecting duct cells. In summary, we provide evidence that heterozygous hypomorphic DACT1 variants cause CAKUT and other features of TBS2, including anomalies of the skeleton, brain, distal digestive and genital tract.

• MeSH
• Adaptor Proteins, Signal Transducing genetics   metabolism   MeSH
• Nuclear Proteins metabolism   MeSH
• Kidney abnormalities   MeSH
• Humans MeSH
• Urinary Tract * abnormalities   MeSH
• Mice MeSH
• Dishevelled Proteins genetics   MeSH
• Urogenital Abnormalities * genetics   MeSH
• Animals MeSH
• Check Tag
• Humans MeSH
• Mice MeSH
• Animals MeSH
• Publication type
• Journal Article MeSH

Základní metodou pro zobrazení mozku plodu je ultrazvuk (UZ). Fetálnímagnetická rezonance (fMR) zůstává stále metodou doprovodnou k UZ vyšetření.Jednou z výhod fetální MR je, že dokáže zobrazit mozek ve více rovinách bezohledu na polohu matky a měnící se polohu plodu během vyšetření. Zobrazení jetaké možné zhotovit u nepříznivého BMI (body mass index) matky nebo v případěpřítomnosti oligohydramnionu, kdy jsou možnosti provedení ultrazvuku omezené.MR umožňuje lepší vizualizaci mozkových struktur, poskytuje vyšší tkáňovýkontrast než ultrazvuk, a může tedy odhalit i anomálie, které nejsou při UZzobrazení patrné.

Ultrasonography (US) is the primary technique used for assessing the fetal brain. Fetal mag- netic resonance imaging (fMRI) is an alterna- tive modality for evaluating the fetal brain and can image the brain in multiple planes regard- less of the fetal lie. MRI is better in cases of adverse BMI (body mass index) of the mother and in the situation of oligohydramnion, when the acoustic conditions for ultrasound are lim- ited. MRI has the advantage of allowing better visualization and characterization of brain structures, has a higher contrast resolution than ultrasound, and can detect anomalies not visible in the US.

Ciele: Analýza prenatálnych vzoriek za obdobie 2015–2020. Porovnanie miery detekcie klinicky relevantných variant cytogenetickou analýzou karyotypu a cytogenomickými metódami MLPA (Multiplex Ligation-Depent Probe Amplification) a mikročipmi (CMA – chromosomal microarray). Súbor a metodika: Analyzovaných bolo 1 029 prenatálnych vzoriek cytogenetickým hodnotením karyotypu (n = 1 029), cytogenomickými metódami MLPA (n = 144) a CMA (n = 111). Všetky nebalansované zmeny boli potvrdené metódou MLPA alebo CMA. Výsledky: Z analyzovaného súboru plodov, po odčítaní aneuploidií – 107 (10,40 %, n = 1 029), bolo analýzou karyotypu zachytených 22 štruktúrnych aberácií (2,39 %, n = 922) – deväť nebalansovaných zmien (0,98 %), 10 balansovaných zmien (1,08 %), jeden prípad nejasnej mozaiky (0,09 %), jeden prípad prítomnosti marker chromozómu (0,09 %) a jeden prípad diskordancie pohlavia (0,09 %). U 255 vzoriek s fyziologickým karyotypom indikovaných k cytogenomickému vyšetreniu bolo zachytených celkom osem (7,21 %, n = 111) patologických variant metódou CMA. Metódou MLPA bolo z týchto ôsmich patogénnych variant zachytených päť (3,47 %, n = 144). Celkový záchyt patogénnych variant metódami MLPA a CMA vrátane konfirmačných vyšetrení patologického karyotypu je 14 (5,14 %) a 17 (6,25 %) (n = 272). Záchyt patologických variant v skupine s izolovanými poruchami bol nižší než v skupine s mnohopočetnými poruchami (5,08 vs. 21,42 %). Záver: Potvrdila sa vyššia úspešnosť záchytu patologických variant so zmenou v počte kópií, metódou CMA než MLPA.

Objective: Analysis of prenatal samples from 2015 to 2020. Comparison detection rates of clinically relevant variants by cytogenetic karyotype analysis and cytogenomic MLPA (Multiplex Ligation-Depent Probe Amplification) and microarray methods (CMA – chromosomal microarray). Material and method: 1,029 prenatal samples were analyzed by cytogenetic karyotyping (N = 1,029), cytogenomic methods – MLPA (N = 144) and CMA (N = 111). All unbalanced changes were confirmed by MLPA or CMA. Results: From the analyzed set of fetuses, after subtraction of aneuploidies – 107 (10.40%, N = 1,029), 22 structural aberrations (2.39%, N = 922) – nine unbalanced changes (0.98%), 10 balanced changes (1.08%), one case of unclear mosaicism (0.09%), one case of presence of a marker chromosome (0.09%) and one case of sex discordance (0.09%) – were detected by karyotype analysis. A total of eight (7.21%, N = 111) pathological variants were detected by CMA in 255 samples with physiological karyotype indicated for cytogenomic examination. Five (3.47%, N = 144) of eight pathogenic variants were detected by MLPA method. The total capture of pathogenic variants by MLPA and CMA methods was 14 (5.14%) and 17 (6.25%) (N = 272), including confirmatory pathological karyotype testing. Detection of pathological variants in the isolated disorders group was lower than in the multiple disorders group (5.08 vs. 21.42%). Conclusion: A higher success rate for the detection of pathological copy number variation variants by the microarray method than by the MLPA method was confirmed.

• MeSH
• Clinical Studies as Topic MeSH
• Humans MeSH
• Microarray Analysis methods   MeSH
• Mosaicism MeSH
• Multiplex Polymerase Chain Reaction methods   MeSH
• Fetus MeSH
• Prenatal Diagnosis * MeSH
• Pregnancy MeSH
• DNA Copy Number Variations MeSH
• Congenital Abnormalities * diagnosis   genetics   MeSH
• Check Tag
• Humans MeSH
• Pregnancy MeSH
• Female MeSH