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1.
J Clin Med ; 12(22)2023 Nov 09.
Artigo em Inglês | MEDLINE | ID: mdl-38002614

RESUMO

Cesarean section (CS) is the most widely performed and one of the most painful surgeries. This study investigated postoperative pain after CS using patient-related outcomes (PROs) to identify risk factors for severe pain. The secondary outcome was to evaluate the influence of surgery indication (primary CS (PCS) vs. urgent CS (UCS)). This multi-center, prospective cohort study included data submitted to the pain registry "quality improvement in postoperative pain treatment" (QUIPS) between 2010 and 2020. In total, 11,932 patients were evaluated. Median of maximal pain was 7.0 (numeric rating scale (NRS) 0 to 10); 53.9% suffered from severe pain (NRS ≥ 7), this being related to impairment of mood, ambulation, deep breathing and sleep, as well as more vertigo, nausea and tiredness (p < 0.001). Distraction, relaxation, mobilization, having conversations, patient-controlled analgesia (PCA) and pain monitoring were shown to be protective for severe pain (p < 0.001). Maximal pain in PCS and UCS was similar, but UCS obtained more analgesics (p < 0.001), and experienced more impairment of ambulation (p < 0.001) and deep breathing (p < 0.05). Severe pain has a major effect on daily-life activities and recovery after CS, and depends on modifiable factors. More effort is needed to improve the quality of care after CS.

2.
Ultraschall Med ; 44(5): e226-e240, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35777369

RESUMO

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.


Assuntos
Baías , Cardiopatias Congênitas , Gravidez , Recém-Nascido , Humanos , Masculino , Feminino , Criança , Lactente , Estudos Retrospectivos , Ultrassonografia Pré-Natal , Diagnóstico Pré-Natal , Cardiopatias Congênitas/diagnóstico por imagem , Feto
3.
Arch Gynecol Obstet ; 308(4): 1287-1300, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-36310336

RESUMO

PURPOSE: Report on the diagnosis of prenatally detected fetal kidneys with bilateral polycystic appearance in a single center between 1999 and 2020 with special focus on renal morphology and biometry, amniotic fluid and extrarenal findings and proposal for an diagnostic algorithm. METHODS: Retrospective observational study including pregnancies with prenatally detected kidneys with bilateral polycystic appearance (n = 98). Cases and outcomes were compared according to prenatal findings with special focus on renal morphology, amount of amniotic fluid, and presence of extrarenal abnormalities. RESULTS: Most frequent diagnoses were autosomal recessive polycystic kidney disease (ARPKD, 53.1%), Meckel-Gruber syndrome (MKS, 17.3%) and autosomal dominant polycystic kidney disease (ADPKD, 8.2%). Other diagnoses included: Joubert-, Jeune-, McKusick-Kaufman- and Bardet-Biedl syndrome, overgrowth syndromes, Mainzer-Saldino syndrome and renal tubular dysgenesis. Renal abnormalities most frequently observed were hyperechogenic parenchyma, kidney enlargement, changes of corticomedullary differentiation and cystic changes of various degree. Oligo- and anhydramnios were mainly seen in ARPKD, RTD and second-trimester MKS. Extrarenal findings included skeletal (35.7%) and cardiac (34.7%) abnormalities as well as abnormalities of the central nervous system (27.6%). CONCLUSION: Gestational age at manifestation, kidney size, visibility of cysts, echogenicity, amniotic fluid volume, and the presence of associated extrarenal malformations allow to differentiate between the most frequent underlying diseases presenting with bilateral polycystic kidneys on prenatal ultrasound by following a diagnostic algorithm.


Assuntos
Doenças Renais Policísticas , Rim Policístico Autossômico Dominante , Rim Policístico Autossômico Recessivo , Feminino , Humanos , Gravidez , Doenças Renais Policísticas/diagnóstico por imagem , Rim/diagnóstico por imagem , Rim/anormalidades , Líquido Amniótico/diagnóstico por imagem , Ultrassonografia Pré-Natal , Algoritmos
4.
Clin Pract ; 12(5): 826-831, 2022 Oct 12.
Artigo em Inglês | MEDLINE | ID: mdl-36286073

RESUMO

Uterine artery pseudoaneurysm (UAP) is a rare and potentially life-threatening vascular anomaly caused by inadequate sealing of a ruptured wall of a uterine artery. It mainly occurs after a traumatic lesion and can lead to delayed postpartum hemorrhage. We report a rare case of UAP after an uncomplicated vaginal delivery in a patient with a history of deep-infiltrating endometriosis. Selective coil embolization was successfully performed. UAPs should always be considered in cases of unexplained abdominal pain after surgery or childbirth with or without vaginal bleeding.

5.
Clin Case Rep ; 10(8): e6175, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35937027

RESUMO

Prenatal detection of complex giant hepatic arteriovenous malformation requires an examination of the affected fetal hemodynamic situation with emphasis on the affected arterial supply pattern. Early pediatric surgeon presentation is needed, as timely surgical intervention appears to be essential.

6.
Nutrients ; 14(7)2022 Apr 05.
Artigo em Inglês | MEDLINE | ID: mdl-35406128

RESUMO

While nutrition during pregnancy is critical for the health of both mother and child, little is known about the diet quality of women during pregnancy, its correlation with gestational weight gain (GWG)/body composition, and chosen maternal adipokines. Therefore, we evaluated the Healthy Eating Index (HEI) of 110 pregnant women and analyzed its correlation with GWG/body composition, physical activity, leptin, resistin, adiponectin, and interleukin 6 (IL-6), respectively. Diet quality was medium in 63% of women, characterized by a high intake of animal-based products. HEI was negatively influenced by pre-pregnancy obesity (ß = −0.335, p = 0.004), and positively influenced by higher age (>35 yrs., ß = 0.365, p ≤ 0.001), upper arm circumference (ß = 0.222, p = 0.052), and total activity during the third trimester (ß = 0.258, p = 0.008). GWG was associated with pre-pregnancy obesity (ß = −0.512, p ≤ 0.001), thigh circumference (ß = 0.342, p = 0.007), upper arm fat area (ß = 0.208, p = 0.092), and maternal age group (>35 yrs. ß = −0.166, p = 0.082), but not with HEI. Leptin and IL-6 displayed associations with variables representative of body composition, such as pre-pregnancy BMI, thigh circumference, upper arm fat area, and upper arm circumference, but were not influenced by HEI. Neither were adiponectin and resistin. IL-6 was also associated with total activity. In conclusion, GWG, leptin, and IL-6 were influenced by nutritional status (body composition/pre-pregnancy BMI), not by maternal diet. Physical activity level also had an impact on IL-6. Thus, efforts should be intensified to improve diet quality and participation in sports before and during pregnancy, particularly in overweight or obese women.


Assuntos
Adipocinas , Dieta , Ganho de Peso na Gestação , Adiponectina , Índice de Massa Corporal , Estudos Transversais , Feminino , Alemanha , Humanos , Interleucina-6 , Leptina , Obesidade , Gravidez , Resistina
7.
Arch Gynecol Obstet ; 306(1): 71-83, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-34596737

RESUMO

PURPOSE: Report on the diagnosis of prenatally suspected multisystem ciliopathies in a single center between 2002 and 2020. METHODS: Retrospective observational single-center study including pregnancies with prenatal ultrasound features of multisystem ciliopathies, such as hyperechogenic kidneys together with polydactyly and/or other skeletal and extraskeletal findings. Cases were compared according to their prenatal findings and outcomes. RESULTS: 36 cases of multisystem ciliopathies were diagnosed. Meckel-Gruber syndrome (MKS) was the most common ciliopathy (n = 19/36, 52.8%), followed by disorders that belong to the group of short-rib thoracic dysplasia (SRTD, n = 10/36, 27.8%) McKusick-Kaufmann syndrome (MKKS, n = 4/36, 11.1%), Bardet-Biedl syndrome (BBS, n = 2/36, 5.5%) and Joubert syndrome (n = 1/36, 2.8%). All cases showed abnormalities of the kidneys, most often hyperechogenic parenchyma (n = 26/36, 72.2%), cystic dysplasia (n = 24/36, 66.7%), and/or bilateral kidney enlargement (n = 22/36, 61.1%). Oligohydramnios was mainly present in fetuses with MKS. Polydactyly (n = 18/36), abnormalities of the CNS (n = 25/36), and heart defects (n = 10/36) were associated in 50%, 69.4%, and 27.8%, respectively. CONCLUSION: Prenatal detection of renal abnormalities associated with skeletal or brain abnormalities should raise the suspicion for multisystem ciliopathies. Prenatal ultrasound can help to differentiate between different diseases and pave the way for subsequent targeted genetic testing.


Assuntos
Ciliopatias , Doenças Renais Policísticas , Polidactilia , Transtornos da Motilidade Ciliar , Ciliopatias/genética , Encefalocele , Feminino , Feto , Humanos , Doenças Renais Policísticas/diagnóstico por imagem , Doenças Renais Policísticas/genética , Polidactilia/diagnóstico por imagem , Gravidez , Retinose Pigmentar , Estudos Retrospectivos
8.
Fetal Diagn Ther ; 48(11-12): 778-784, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34903686

RESUMO

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.


Assuntos
Transfusão Feto-Fetal , Nascimento Prematuro , Feminino , Humanos , Recém-Nascido , Perfusão , Gravidez , Resultado da Gravidez , Primeiro Trimestre da Gravidez , Gravidez de Gêmeos , Estudos Retrospectivos
9.
Fetal Diagn Ther ; 48(10): 720-737, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34818226

RESUMO

INTRODUCTION: The aim of this study was to obtain expert consensus on the content of a curriculum for learning chorionic villus sampling (CVS) and amniocentesis (AC) and the items of an assessment tool to evaluate CVS and AC competence. METHODS: We used a 3-round iterative Delphi process. A steering committee supervised all processes. Seven international collaborators were identified to expand the breadth of the study internationally. The collaborators invited fetal medicine experts to participate as panelists. In the first round, the panelists suggested content for a CVS/AC curriculum and an assessment tool. The steering committee organized and condensed the suggested items and presented them to the panelists in round 2. In the second round, the panelists rated and commented on the suggested items. The results were processed by the steering committee and presented to the panelists in the third round, where final consensus was obtained. Consensus was defined as support by more than 80% of the panelists for an item. RESULTS: Eighty-six experts agreed to participate in the study. The panelists represented 16 countries across 4 continents. The final list of curricular content included 12 theoretical and practical items. The final assessment tool included 11 items, systematically divided into 5 categories: pre-procedure, procedure, post-procedure, nontechnical skills, and overall performance. These items were provided with behavioral scale anchors to rate performance, and an entrustment scale was used for the final overall assessment. CONCLUSION: We established consensus among international fetal medicine experts on content to be included in a CVS/AC curriculum and on an assessment tool to evaluate CVS/AC skills. These results are important to help transition current training and assessment methods from a time- and volume-based approach to a competency-based approach which is a key step in improving patient safety and outcomes for the 2 most common invasive procedures in fetal medicine.


Assuntos
Amniocentese , Amostra da Vilosidade Coriônica , Amostra da Vilosidade Coriônica/efeitos adversos , Consenso , Feminino , Humanos , Gravidez
10.
Arch Gynecol Obstet ; 303(1): 129-134, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-32815025

RESUMO

BACKGROUND: Elevated concentrations of circulating testosterone are present in hyperreactio luteinalis (HL), a pregnancy-specific, self-limited condition. HL is associated with maternal virilization in about 30% of cases. The correlation between testosterone levels and maternal virilization has not yet been quantified. Our aim was to identify a testosterone cut-off level which may allow to predict maternal virilization. METHODS: A literature research was performed. Publications were chosen if serum testosterone concentrations and presence or absence of maternal virilization was mentioned. Additionally, we report serial levels of steroids analyzed by Liquid chromatography-tandem mass spectrometry (LC-MS/MS) in one case of HL managed at our institution. RESULTS: In all, 31 cases fulfilled the search criteria. We found significant overlap between testosterone levels in asymptomatic women and women with signs of virilization (range 6.2-37.3 nmol/l and 13.7-197.5 nmol/l, respectively). The method applied for testosterone analysis was mentioned in three reports only. Peak serum testosterone concentration in our case was 120.3 nmol/l. CONCLUSION: From the available data, maternal virilization in HL cannot be predicted by the level of circulating testosterone. However, comparability of results is hampered by the analytical methods applied. LC-MS/MS should preferably be used for reporting concentrations of circulating testosterone.


Assuntos
Complicações na Gravidez/diagnóstico , Testosterona/sangue , Virilismo/sangue , Adulto , Cromatografia Líquida , Feminino , Humanos , Cistos Ovarianos , Gravidez , Espectrometria de Massas em Tandem
11.
Prenat Diagn ; 41(3): 301-307, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33242216

RESUMO

OBJECTIVE: Evaluation of course and outcome of pregnancies with prenatally diagnosed fetal teratomas of various locations in a single center between 2002 and 2019. METHODS: Retrospective observational single-center study including prenatally suspected or diagnosed fetal teratomas. Focus was put on ultrasound findings during pregnancy. Complications, need for intervention and outcomes were compared according to tumor location. RESULTS: 79 cases of fetal teratomas were seen at our center between 2002 and 2019. Most frequent tumor locations were the sacrococcygeal region (59.5%), neck (20.2%) and oropharynx (7.6%). Complications mainly included polyhydramnios and cardiac compromise. Need for intervention during pregnancy was significantly higher in pericardial teratomas. Preterm birth before 37 and early preterm birth before 32 weeks occurred in 72.7% and 29.1%, respectively. Major causes of perinatal death were tumor bleeding in sacrococcygeal teratomas (SCTs) and respiratory failure in cervical and oropharyngeal teratomas. CONCLUSION: There is a high need for intervention in pregnancies complicated by fetal teratomas. Pericardiocentesis in pericardial teratomas is often inevitable to reduce the risk of intrauterine demise. Amniotic fluid drainage in associated severe polyhydramnios helps to reduce the risk of preterm birth, a major cause of additional morbidity and mortality. MRI in supplement to prenatal ultrasound is useful in fetal teratomas of the neck and oropharynx in order to plan delivery.


Assuntos
Diagnóstico Pré-Natal/métodos , Teratoma/diagnóstico , Adulto , Feminino , Alemanha/epidemiologia , Idade Gestacional , Humanos , Imageamento por Ressonância Magnética/métodos , Gravidez , Diagnóstico Pré-Natal/estatística & dados numéricos , Estudos Retrospectivos , Teratoma/epidemiologia , Teratoma/cirurgia , Ultrassonografia/métodos
12.
Klin Padiatr ; 232(5): 228-248, 2020 Sep.
Artigo em Alemão | MEDLINE | ID: mdl-32659844

RESUMO

This consensus-based guideline was developed by all relevant German pediatric medical societies. Ultrasound is the standard imaging modality for pre- and postnatal kidney cysts and should also exclude extrarenal manifestations in the abdomen and internal genital organs. MRI has selected indications. Suspicion of a cystic kidney disease should prompt consultation of a pediatric nephrologist. Prenatal management must be tailored to very different degrees of disease severity. After renal oligohydramnios, we recommend delivery in a perinatal center. Neonates should not be denied renal replacement therapy solely because of their age. Children with unilateral multicystic dysplastic kidney do not require routine further imaging or nephrectomy, but long-term nephrology follow-up (as do children with uni- or bilateral kidney hypo-/dysplasia with cysts). ARPKD (autosomal recessive polycystic kidney disease), nephronophthisis, Bardet-Biedl syndrome and HNF1B mutations cause relevant extrarenal disease and genetic testing is advisable. Children with tuberous sclerosis complex, tumor predisposition (e. g. von Hippel Lindau syndrome) or high risk of acquired kidney cysts should have regular ultrasounds. Even asymptomatic children of parents with ADPKD (autosomal dominant PKD) should be monitored for hypertension and proteinuria. Presymptomatic diagnostic ultrasound or genetic examination for ADPKD in minors should only be done after thorough counselling. Simple cysts are very rare in children and ADPKD in a parent should be excluded. Complex renal cysts require further investigation.


Assuntos
Cistos/patologia , Neoplasias Renais , Rim Policístico Autossômico Dominante , Rim Policístico Autossômico Recessivo , Guias de Prática Clínica como Assunto , Criança , Feminino , Humanos , Recém-Nascido , Neoplasias Renais/patologia , Neoplasias Renais/terapia , Masculino , Rim Policístico Autossômico Dominante/diagnóstico , Rim Policístico Autossômico Dominante/genética , Rim Policístico Autossômico Dominante/terapia , Rim Policístico Autossômico Recessivo/diagnóstico , Rim Policístico Autossômico Recessivo/genética , Rim Policístico Autossômico Recessivo/terapia , Gravidez , Sociedades Médicas
13.
Artigo em Inglês | MEDLINE | ID: mdl-32457700

RESUMO

Background: Carney complex (CNC) is a rare multiple endocrine neoplasia syndrome with autosomal dominant inheritance. Affected individuals present with mucocutaneous lentigines/blue nevi, cardiac and noncardiac myxomatous tumors, and multiple endocrine tumors. Mutations in PRKAR1A have been identified as genetic cause of the disease. Here, we report on pregnancy, delivery and puerperium in a woman with genetically confirmed CNC and her newborn. Case: The 31 year-old gravida 5 para 1 with CNC was referred at 26 weeks of gestation. Adrenocorticotropin-independent hypercortisolism, hyperglycemia, hypertension, low serum potassium, and osteoporotic fractures were present. Treatment with metyrapone, a reversible 11-beta-hydroxylase inhibitor, was initiated. The maternal condition improved, and a 5 weeks' pregnancy prolongation could be achieved. Elective repeat cesarean section was performed at 31 weeks of gestation for recurrent vaginal bleeding. The neonate developed transient hyponatremia necessitating hydrocortisone substitution for 2 weeks. Conclusion: In our case, treatment of CNC-associated hypercortisolism in pregnancy with metyrapone was effective. Maternal side effects did not occur. The newborn presented with transient hypocortisolism most likely due to transplacental drug effect. Our case illustrates that the treatment of rare diseases in pregnancy represents a challenge requiring interdisciplinary team work.


Assuntos
Antimetabólitos/uso terapêutico , Complexo de Carney/patologia , Cesárea/métodos , Síndrome de Cushing/fisiopatologia , Metirapona/uso terapêutico , Complicações Neoplásicas na Gravidez/patologia , Adulto , Complexo de Carney/tratamento farmacológico , Complexo de Carney/cirurgia , Feminino , Humanos , Recém-Nascido , Gravidez , Complicações Neoplásicas na Gravidez/tratamento farmacológico , Complicações Neoplásicas na Gravidez/cirurgia , Resultado da Gravidez
14.
Arch Gynecol Obstet ; 300(2): 355-363, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31115647

RESUMO

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.


Assuntos
Extrofia Vesical/diagnóstico , Diagnóstico Pré-Natal/métodos , Adulto , Feminino , Humanos , Masculino , Gravidez , Estudos Retrospectivos
15.
Arch Gynecol Obstet ; 299(4): 939-945, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30739175

RESUMO

PURPOSE: To perform a multicenter prospective study of ultrasound prenasal thickness (PT), and nasal bone length (NBL) measurement at 11-14 weeks' gestation. METHODS: Ultrasound PT and NBL determination was performed in 504 normal fetuses and 17 fetuses with Down's syndrome (DS). Measurements were made from mid-sagittal 2D images acquired using a standardized technique during nuchal translucency (NT) examination. PT and NBL values were expressed in multiples of the gestation-specific normal median (MoM) and as the PT/NBL ratio. Information on PT and NBL MoMs was also combined using logistic regression. Results were classified as positive according to whether they were greater than the normal 95th centile for PT, PT/NBL and the DS risk from logistic regression equation or below the 5th centile for NBL. RESULTS: The median value in DS cases and unaffected controls were: PT 1.26 and 0.996 MoM; and NBL 0.596 and 0.993 MoM. The proportion of DS fetuses with positive results was 41% for PT, 65% for NBL, and 82% for both the PT/NBL ratio and DS risk from the logistic regression equation. PT/NBL levels did not vary according to gestational age. CONCLUSION: The PT/NBL ratio is a valuable first trimester DS screening marker that can be easily determined concomitant with the NT measurement.


Assuntos
Síndrome de Down/diagnóstico , Osso Nasal/patologia , Medição da Translucência Nucal/métodos , Ultrassonografia Pré-Natal/métodos , Adolescente , Adulto , Síndrome de Down/patologia , Feminino , Feto , Idade Gestacional , Humanos , Programas de Rastreamento , Pessoa de Meia-Idade , Gravidez , Primeiro Trimestre da Gravidez , Estudos Prospectivos , Adulto Jovem
16.
J Perinat Med ; 47(3): 354-364, 2019 Apr 24.
Artigo em Inglês | MEDLINE | ID: mdl-30676006

RESUMO

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.


Assuntos
Dupla Via de Saída do Ventrículo Direito/diagnóstico por imagem , Dupla Via de Saída do Ventrículo Direito/epidemiologia , Dupla Via de Saída do Ventrículo Direito/cirurgia , Ecocardiografia , Feminino , Alemanha/epidemiologia , Humanos , Recém-Nascido , Gravidez , Estudos Retrospectivos , Ultrassonografia Pré-Natal
18.
Fetal Diagn Ther ; 45(1): 62-68, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-29478043

RESUMO

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.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/diagnóstico por imagem , Anormalidades Múltiplas/diagnóstico por imagem , Síndrome de Bardet-Biedl/diagnóstico por imagem , Anormalidades Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/diagnóstico por imagem , Hidrocolpos/diagnóstico por imagem , Ductos Paramesonéfricos/anormalidades , Polidactilia/diagnóstico por imagem , Ultrassonografia Doppler Dupla , Ultrassonografia Pré-Natal/métodos , Doenças Uterinas/diagnóstico por imagem , Adulto , Feminino , Alemanha , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Ductos Paramesonéfricos/diagnóstico por imagem , Valor Preditivo dos Testes , Prognóstico , Estudos Retrospectivos
19.
Ultraschall Med ; 40(2): 176-193, 2019 Apr.
Artigo em Inglês, Alemão | MEDLINE | ID: mdl-30001568

RESUMO

First-trimester screening between 11 + 0 and 13 + 6 weeks with qualified prenatal counseling, detailed ultrasound, biochemical markers and maternal factors has become the basis for decisions about further examinations. It detects numerous structural and genetic anomalies. The inclusion of uterine artery Doppler and PlGF screens for preeclampsia and fetal growth restriction. Low-dose aspirin significantly reduces the prevalence of severe preterm eclampsia. Cut-off values define groups of high, intermediate and low probability. Prenatal counseling uses detection and false-positive rates to work out the individual need profile and the corresponding decision: no further diagnosis/screening - cell-free DNA screening - diagnostic procedure and genetic analysis. In pre-test counseling it must be recognized that the prevalence of trisomy 21, 18 or 13 is low in younger women, as in submicroscopic anomalies in every maternal age. Even with high specificities, the positive predictive values of screening tests for rare anomalies are low. In the general population trisomies and sex chromosome aneuploidies account for approximately 70 % of anomalies recognizable by conventional genetic analysis. Screen positive results of cfDNA tests have to be proven by diagnostic procedure and genetic diagnosis. In cases of inconclusive results a higher rate of genetic anomalies is detected. Procedure-related fetal loss rates after chorionic biopsy and amniocentesis performed by experts are lower than 1 to 2 in 1000. Counseling should include the possible detection of submicroscopic anomalies by comparative genomic hybridization (array-CGH). At present, existing studies about screening for microdeletions and duplications do not provide reliable data to calculate sensitivities, false-positive rates and positive predictive values.


Assuntos
Ácidos Nucleicos Livres , Primeiro Trimestre da Gravidez , Diagnóstico Pré-Natal , Ácidos Nucleicos Livres/análise , Gonadotropina Coriônica Humana Subunidade beta , Hibridização Genômica Comparativa , Feminino , Alemanha , Humanos , Gravidez , Trissomia
20.
Fetal Diagn Ther ; 44(2): 149-155, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-28898888

RESUMO

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.


Assuntos
Sequestro Broncopulmonar/diagnóstico por imagem , Sequestro Broncopulmonar/terapia , Terapia a Laser/métodos , Derrame Pleural/diagnóstico por imagem , Derrame Pleural/terapia , Ultrassonografia Pré-Natal/métodos , Estudos de Coortes , Feminino , Terapias Fetais/métodos , Humanos , Gravidez , Estudos Retrospectivos , Resultado do Tratamento
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