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AIM OF THE STUDY: The aim of the study is to examine the detection rates of malformations before and after the introduction of extended basic screening in Hesse by the Federal Joint Committee (Gemeinsamer Bundesausschuss, GQH) on July 1, 2013. METHOD: This is a retrospective, mainly exploratory data analysis of quality assurance data from the Office for Quality Assurance in Hesse (GQH). The data was collected in the period from January 1, 2010 to December 31, 2016 in the obstetric departments of the Hessian hospitals using documentation forms. The classification and evaluation of the diagnoses is based on ICD-10-GM-2019. RESULTS: At least one malformation is present in 0.7% of the cases. With a share of 30.0%, most of the congenital malformations are from the musculoskeletal system. 12.2% of the malformations come from the facial cleft, closely followed by malformations of the circulatory system with 11.3%. The highest prenatal detection rate (PDR) is found in congenital malformations of the nervous system at 56.8%. The lowest PDR is found in those of the genital organs with 2.1%. The PDR of cardiovascular malformations is 32.9%. Overall, a PDR of 25.2% is achieved. There was no change in the number of prenatal malformation diagnoses after the introduction of extended basic ultrasound. The distribution of malformation diagnoses not detected prenatally to the organ systems also has not changed after the introduction. CONCLUSION: The introduction of extended basic ultrasound did not bring the desired improvement with regard to the PDR in Hesse. Alternative approaches should be considered.
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Diagnóstico Pré-Natal , Ultrassonografia Pré-Natal , Humanos , Gravidez , Feminino , Estudos Retrospectivos , UltrassonografiaRESUMO
Since the beginning of the pandemic, SARS-CoV-2 infection has dominated clinical practice. In the treatment of high-risk populations, there has long been uncertainty about the extent and consequences of infection. This high-risk population includes pregnant patients. The establishment of clinical registry studies was able to contribute an assessment of the pandemic situation for this collective within a very short time and with enormous effort. Based on a clinical case, the following report describes the association between SARS-CoV-2 infection of a pregnant patient with clinical signs of preeclampsia to the development of posterior reversible encephalopathy syndrome (PRES). Based on the case, the differential diagnostic workup between fulminant course of infection and preeclampsia is presented. The article presents the current data on the occurrence of PRES in pregnancy in the context of SARS-CoV-2 infection and addresses possible differential diagnoses. Interdisciplinary care of the patient allows an overview of aspects of each specialty to be presented.
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COVID-19 , Síndrome da Leucoencefalopatia Posterior , Humanos , COVID-19/diagnóstico , COVID-19/terapia , SARS-CoV-2RESUMO
INTRODUCTION: Breastfeeding to strengthen the immune system suggests allergy prevention as a possible option. The connection between breastfeeding and the development of atopic-allergic diseases is being discussed. The primary aim of this work was to investigate an association of the first early skin-to-skin contact following cesarean section with the development of atopic diseases within the 1st year of life. METHODS: The present study was conducted as a bicentric prospective cohort study in central Germany with a 15-month recruitment period. Data collection was by telephone interviews with a follow-up of 12 months. The statistical evaluation procedure was based on a hierarchical test of the association of early skin-to-skin contact between mother and child with the two main outcome measures. The primary outcome is the duration of breastfeeding. The second outcome is the onset of atopic-allergic disease within the 1st year of life. RESULTS: Mothers breastfed longer if they had skin-to-skin contact within the first 30 minutes postpartum [χ²(df=5) = 19.020, p=0.002], if they breastfed their newborns early immediately after birth (p<0.001), and if the first skin-to-skin contact lasted more than one hour [χ²(df=4) = 19.617, p<0.001]. Regarding atopic-allergic diseases, no significant effects of skin-to-skin contact were found in relation to disease development. Regarding breastfeeding, no significant effects of atopic-allergic diseases could be detected either. CONCLUSIONS: The results of this study reflect the benefits of skin-to-skin contact in the context of breastfeeding and atopic disease. The current scientific knowledge regarding skin contact and the development of atopic-allergic diseases should be extended and deepened.
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Fryns syndrome (FS) is a multiple congenital anomaly syndrome with different multisystemic malformations. These include congenital diaphragmatic hernia, pulmonary hypoplasia, and craniofacial dysmorphic features in combination with malformations of the central nervous system such as agenesis of the corpus callosum, cerebellar hypoplasia, and enlarged ventricles. We present a non-consanguineous northern European family with two recurrent cases of FS: a boy with multiple congenital malformations who died at the age of 2.5 months and a female fetus with a complex developmental disorder with similar features in a following pregnancy. Quad whole exome analysis revealed two likely splicing-affecting disease-causing mutations in the PIGN gene: a synonymous mutation c.2619G>A, p.(Leu873=) in the last nucleotide of exon 29 and a 30 bp-deletion c.996_1023+2del (NM_176787.5) protruding into intron 12, with both mutations in trans configuration in the affected patients. Exon skipping resulting from these two variants was confirmed via RNA sequencing. Our molecular and clinical findings identified compound heterozygosity for two novel splice-affecting variants as the underlying pathomechanism for the development of FS in two patients.
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Biallelic pathogenic variants in the neuroblastoma amplified sequence (NBAS) gene affecting the Sec39 domain are associated with a predominant hepatic phenotype named infantile liver failure syndrome type 2 (ILFS2). Individuals are at risk of developing life-threatening acute liver failure episodes, most likely triggered by febrile infections. Pregnancy, delivery, and the postpartum period are well known triggers of decompensation in different inherited metabolic diseases and therefore entail a potential risk also for individuals with ILFS2. We studied pregnancy, birth, and postpartum period in a woman with ILFS2 (homozygous for the NBAS variant c.2708 T > G, p.(Leu903Arg)). During two pregnancies there were no complications associated with the underlying genetic condition. Two healthy boys were born by cesarean section. To reduce the risk of fever and febrile infections, we avoided prolonged labor, epidural analgesia, and breastfeeding. Maternal body temperature and liver function were closely monitored. In case of elevated body temperature, antipyretic treatment (acetaminophen, metamizole) was given without delay. Alanine and aspartate aminotransferases as well as liver function remained normal throughout the observation period. Hence, pregnancy and childbirth are feasible in women with ILFS2 under careful monitoring.
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Open spina bifida (OSB) is a congenital, non-lethal malformation with multifactorial etiology. Fetal therapy can be offered under certain conditions to parents after accurate prenatal diagnostic and interdisciplinary counseling. Since the advent of prenatal OSB surgery, various modifications of the original surgical techniques have evolved, including laparotomy-assisted fetoscopic repair. After a two-year preparation time, the team at the University of Giessen and Marburg (UKGM) became the first center to provide a three-port, three-layer fetoscopic repair of OSB via a laparotomy-assisted approach in the German-speaking area. We point out that under the guidance of experienced centers and by intensive multidisciplinary preparation and training, a previously described and applied technique could be transferred to a different setting.
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Introduction: Negative effects of impaired postpartum mother-infant-bonding on mental health of mothers, their newborn children and subsequent child development are well documented. Previous research demonstrated an association between a negative birth experience and postpartum mental health affecting postpartum mother-infant bonding. This study investigates the extent to which prepartum depression and birth experience influence the postpartum mental health of mothers and their bonding toward their newborns, and whether these influences differ according to parity and self-reported prior mental health problems. Method: Three hundred and fifty-four women (18-43 years; M = 30.13, SD = 5.10) filled in the Edinburgh Postnatal Depression Scale (EPDS), the Maternal-Fetal Attachment Scale (MFAS), Salmon's Item List (SIL) assessing the birth experience, and the Postpartum Bonding Questionnaire (PBQ) at pre- and postpartum; they were also asked about birth complications and parity status. Results: Primipara reported significantly more birth complications (p = 0.048), with path analysis confirming this result (p < 0.001). Birth complications were associated with a more negative rating of the overall birth experience (p < 0.001). Mothers with self-reported prior mental health problems had higher prepartum depression scores (p < 0.001) but did not differ in other variables from mothers without prior self-reported mental health problems. Differences in depression scores between mothers with self-reported prior mental health problems and those without vanished at postpartum assessment (p > 0.05). Path-analysis highlighted the key role of postpartum depression, which was the only significant predictor of postpartum impairment in maternal-child bonding (p < 0.001). Birth experience and prepartum depression scores exerted an indirect effect on postpartum maternal-child bonding, mediated by postpartum depression. Discussion: The present study demonstrates the relevance of prepartum mental health of expectant mothers, especially of those who self-report prior mental health problems. The results support that reducing mental health problems of pregnant mothers might contribute to a more positive birth experience and potentially reduce postpartum depressive symptoms. As postpartum depression is associated with impaired parent-child bonding, such targeted interventions could promote child development. Group differences between primiparous and multiparous mothers suggest that the birth experience may be an influential factor for postpartum mental health.
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PURPOSE: Fetal megacystis (MC) can be severe and is mainly caused by fetal lower urinary tract obstruction (LUTO). Mortality of fetal LUTO can be high as a result of pulmonary hypoplasia and/or (chronic) renal insufficiency. Several technical procedures for vesicoamniotic shunting (VAS) were developed to improve fetal MC outcomes. MATERIAL AND METHODS: We present the outcome of nine fetuses with MC who received VAS in the prenatal period (14 + 6 to 27 + 6 weeks GA) using the Somatex® intrauterine shunt system. MC was defined as an increased longitudinal measurement of the bladder >15 mm. The median follow-up time after birth was 18 months. RESULTS: Eight Fetuses had uncomplicated VAS intervention. One case developed PPROM 24 h after VAS leading to abortion. Pregnancy was later terminated in further two cases. All six live-born infants received intensive care treatment. Invasive-mechanical ventilation was necessary in one case who died 24 h post-partum of severe cardiac depression. Five infants who survived the follow-up time developed chronic renal insufficiency (CRI), with one infant developing end-stage renal failure requiring peritoneal dialysis. CONCLUSION: Overall, 5 of 9 LUTO fetuses (55%) undergoing VAS with the Somatex® intrauterine shunt system showed long-term survival beyond the neonatal period of 28 d (5/9; 55%) with varying morbidity.
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Terapias Fetais , Insuficiência Renal Crônica , Obstrução Uretral , Gravidez , Recém-Nascido , Lactente , Feminino , Humanos , Obstrução Uretral/cirurgia , Obstrução Uretral/etiologia , Seguimentos , Ultrassonografia Pré-Natal/métodos , Bexiga Urinária , Estudos RetrospectivosRESUMO
Aim: Based on the recent FIGO recommendations, we wish to report on preservation of the uterus in a patient with placenta increta by applying the leaving the placenta in situ approach.Methods: A 30-year-old gravida 2, Para 1 was referred at 25 + 5 gestational weeks due to a placenta previa bipartita increta diagnosed by transvaginal ultrasound, a history of a cesarean and vaginal bleeding. After informed consent, the parents opted for conservative treatment. The patient was admitted and the options of treatment were communicated within a multidisciplinary team. At 31 + 4 gestational weeks, severe recurrent hemorrhage led to a repeat cesarean.Results: A boy of 1910 g was delivered and the placenta was left in situ. Estimated blood loss was <200 ml. An MRI on day 13 still showed regular placental circulation, but after 4 weeks, perfusion and HCG levels had significantly decreased. The patient was examined every 3 days and readmitted after 6 weeks with a sudden rise of d-dimers. Within 24 hours, the complete placenta was delivered. On postoperative day 54, MRI confirmed uterine involution without a placental tissue.Conclusions: Delayed placental delivery in patients with abnormal placental invasion is a legitimate option to preserve fertility and possibly to reduce intrapartum hemorrhage.
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Tratamento Conservador/métodos , Placenta Acreta/terapia , Adulto , Cesárea/métodos , Feminino , Humanos , Recém-Nascido de Baixo Peso , Recém-Nascido , Recém-Nascido Prematuro , Imageamento por Ressonância Magnética , Placenta/patologia , Placenta Acreta/diagnóstico por imagem , Hemorragia Pós-Parto/terapia , Gravidez , Ultrassonografia Pré-NatalRESUMO
Anti-idiotypic (Id) monoclonal antibodies can serve as surrogate for tumor-associated antigens in vaccination strategies. The murine anti-Id monoclonal antibody ACA125 that mimics the CA125 carbohydrate antigen expressed on ovarian cancer cells induces an anti-anti-Id antibody (Ab3) response that is associated with prolonged survival of ovarian cancer patients. To increase the Ab3 antibody response, we evaluated two strategies in a mouse model: (a) coinjection of human interleukin (IL)-6 together with the fusion protein chACA125, which consists of the anti-Id ACA125 single-chain Fv antibody joined to the human IgG1 CH2/CH3 domain; and (b) injection of the fusion protein chACA125-IL-6, which consists of the ACA125 single-chain Fv fused to human IL-6 via the IgG1 CH2/CH3 domain. Vaccination of mice with the chACA125-IL-6 fusion protein resulted in higher titers of anti-CA125 (Ab3) antibodies compared with application of the chACA125 antibody with or without systemic coadministration of IL-6. Application of the chACA125-IL-6 fusion protein did not elicit detectable antihuman IL-6 antibody titers, whereas coinjection of human IL-6 did. Taken together, these data suggest that the chACA125-IL-6 fusion protein directly stimulates ACA125-specific B cells via the IL-6 domain, whereas coinjection of IL-6 leads to an overall immune stimulation. Antigen-IL-6 fusion proteins will improve vaccination regimens and anticancer immunotherapeutic strategies by increasing the antigen-specific humoral immune response.
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Anticorpos Anti-Idiotípicos/imunologia , Antígenos de Neoplasias/imunologia , Antígeno Ca-125/imunologia , Vacinas Anticâncer/uso terapêutico , Imunoconjugados/uso terapêutico , Imunoterapia Ativa , Interleucina-6/uso terapêutico , Neoplasias Ovarianas/terapia , Animais , Anticorpos Anti-Idiotípicos/administração & dosagem , Anticorpos Antineoplásicos/biossíntese , Anticorpos Antineoplásicos/imunologia , Linfócitos B/imunologia , Vacinas Anticâncer/imunologia , Feminino , Humanos , Imunização Secundária , Imunoconjugados/administração & dosagem , Imunoconjugados/imunologia , Imunoglobulina G/biossíntese , Imunoglobulina G/imunologia , Região Variável de Imunoglobulina/administração & dosagem , Região Variável de Imunoglobulina/imunologia , Região Variável de Imunoglobulina/uso terapêutico , Interleucina-6/administração & dosagem , Interleucina-6/imunologia , Camundongos , Camundongos Endogâmicos BALB C , Neoplasias Ovarianas/imunologia , Estrutura Terciária de Proteína , Proteínas Recombinantes de Fusão/administração & dosagem , Proteínas Recombinantes de Fusão/imunologia , Proteínas Recombinantes de Fusão/uso terapêutico , Especificidade da EspécieRESUMO
PURPOSE: A Phase I/IIb multicenter study was conducted to evaluate the safety and immunogenicity of the anti-idiotypic antibody vaccine ACA125 that functionally imitates the tumor antigen CA125 in 119 patients with advanced ovarian carcinoma. A preliminary report on the initial 42 patients demonstrated safety and immunogenicity. EXPERIMENTAL DESIGN: Using the complete intention-to-treat population (n = 119) who received a mean of 9.7 ACA125 applications, survival was analyzed with respect to immunological responses. RESULTS: In 81 patients (68.1%), a specific anti-anti-idiotypic antibody (Ab3) response could be induced. Additionally, the development of CA125-specific antibodies (Ab1') and antibody-dependent cell-mediated cytotoxicity of CA125-positive tumor cells was observed in 50.4% and 26.9% of patients, respectively. The median survival of all patients was 19.4 months (range, 0.5-56.1 months). Ab3-positive patients showed a significantly longer survival (median, 23.4 months; P < 0.0001) as compared with Ab3-negative patients (median, 4.9 months). A positive Ab3 response remained associated with longer survival when controlling for other prognostic factors including FIGO (International Federation of Gynecologists and Obstetricians) stage, response to and type of first-line chemotherapy, number of previous treatments, or concomitant antitumor therapy. With regard to safety, repeated vaccination was well tolerated. No serious adverse events related to the application of ACA125 occurred. CONCLUSIONS: Although the uncontrolled design of this study prevents definitive conclusions with respect to subgroups, the data support a relationship between Ab3 response and survival time. Thus, the need for further randomized, controlled clinical trials to establish efficacy of the vaccine ACA125 seems to be indicated.