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1.
Arch Gynecol Obstet ; 2024 May 21.
Article in English | MEDLINE | ID: mdl-38771531

ABSTRACT

BACKGROUND: Academic advancement of the midwifery profession highlights the need to establish standardized qualifications in obstetric ultrasound diagnosis, being a central part of prenatal care. Thus, introduction of an evidence-based training program is warranted. We aimed to reviewed curriculum designs used in midwifery ultrasound education. METHODS: A systematic literature research was conducted. Embase, PubMed and Google Scholar database was reviewed for publications using the terms "[midwife], [midwives], [midwifery students], [obstetric ultrasound], [midwife sonographer] and [education], [teaching], [program], [course], [curriculum] and [learning]". Papers with full description of curriculum designs or educational programs on obstetrical ultrasound for midwives were included and scrutinized against pre-defined criteria according to the PICO (Population, Intervention, Comparator, Outcomes) scheme. RESULTS: 29 publications were included. Studies demonstrated a significant disparity according to course concepts being used. Differing parameters included: Duration, structure, learning approaches, course content, examination concepts and target groups (practising midwives vs. midwives in education). CONCLUSION: An evidence-based ultrasound educational program for midwives remains to be developed, including further educational guidelines. Clinical applications by midwives, as well as the distinctions from medical practise, particularly in terms of legal considerations, needs to be defined.

2.
J Clin Med ; 13(5)2024 Feb 22.
Article in English | MEDLINE | ID: mdl-38592066

ABSTRACT

Ultrasound imaging stands as a fundamental technology in the realms of obstetrics and gynecology, utilizing high-frequency sound waves to create detailed images of the internal structures of the body [...].

3.
Arch Gynecol Obstet ; 2024 Feb 16.
Article in English | MEDLINE | ID: mdl-38363396

ABSTRACT

BACKGROUND: Critical aortic stenosis (AS) in fetuses may progress to hypoplastic left heart syndrome (HLHS) with need for postnatal single ventricular (SV) palliation. Fetal aortic valvuloplasty (FAV) is performed to achieve postnatal biventricular (BV) circulation. However, the impact of FAV on fetal myocardial function is difficult to measure. Prediction of postnatal circulatory status and, therefore, counseling is challenging. METHODS: Retrospective study of fetuses with critical AS who underwent FAV. Global Longitudinal Peak Systolic Strain (GLPSS) of the left ventricle (LV) and right ventricle (RV) were retrospectively analyzed before and after intervention. Fisher's Exact Test and Mann-Whitney-U Test were used for univariant statistical analysis. RESULTS: 23 fetuses with critical AS were included. After intervention fetuses demonstrated more negative LV-GLPSS mean values post- vs. pre-intervention (- 5.36% vs. - 1.57%; p < 0.05). RV-GLPSS was decreased in all fetuses, there was no peri-interventional change. 20 fetuses were born alive. Postnatally, 10 had BV and 10 SV circulation. Improved post-interventional LV-GLPSS strain values correlated with BV outcome (p < 0.05). Pre-interventional continuous LV-GLPSS values correlated with postnatal SV vs. BV outcome (p < 0.05). CONCLUSION: In some fetuses, LV myocardial function assessed by speckle tracking echocardiography (STE) improves after FAV. Improved post-interventional LV-GLPSS correlates with biventricular postnatal outcome. Furthermore, pre-interventional LV- and RV-GLPSS correlate with postnatal outcome. Further studies are needed to asses, if pre-interventional STE parameters might predict which fetuses will benefit from FAV with postnatal BV circulation.

4.
Arch Gynecol Obstet ; 309(3): 987-992, 2024 03.
Article in English | MEDLINE | ID: mdl-36840770

ABSTRACT

AIM: Less than a dozen cases of psoas abscesses in pregnancy have been described in the literature. We reviewed the literature when treating a patient with a psoas abscess after ipsilateral double J-ureteral stent placement (in the following: "double J-stent") due to infected hydronephrosis. METHODS: In January 2022, this review was searched using the Pubmed/MEDLINE database and the mesh terms "Psoas Abscess" AND "Pregnancy". Studies were included in any language and of all years, describing a psoas abscess during pregnancy. When patients did not have a psoas abscess, the abscess occurred after pregnancy, or when there was no full text available, the article was excluded. MAIN RESULTS: Ten case reports about patients with psoas abscesses during pregnancy were included. The classical symptomatic triad of psoas muscle abscess included lower back pain, limping and persistent fever with daily spikes. However, in most cases, not all three symptoms can be found. Especially, fever is absent in more than half of the patients. Psoas abscesses are described between 13 and 39 weeks of gestation. Primary psoas abscesses with haematogenous spread are more common during pregnancy than secondary with spread per continuitatem. In the literature, the main reasons for psoas abscess are spinal tuberculosis, drug abuse or underlying diseases such as Crohn's disease. It is not uncommon for the definite cause to be unclear. Regarding the patient's symptoms, pyelonephritis is often considered a possible aetiology. In general, the main treatment options include antibiotic treatment and abscess drainage. There is no higher caesarean section rate, and no negative outcome for the foetus has been described. CASE PRESENTATION: In our patient, a 38-year-old obese Caucasian woman, who had received a left double J-stent for infected hydronephrosis at 15 weeks of gestation, we successfully treated a psoas abscess of 20 × 10 cm with a sonographically assisted abscess drainage and antibiotics. The further course of pregnancy and the elective repeat caesarean section at 38 + 0 weeks of gestation were without any problems. Double J-stent placement and laser stone lithotripsy during puerperium were performed because of recurrent urolithiasis. CONCLUSIONS: Although rare, psoas abscesses can occur during pregnancy, and it has often been treated surgically in the past. A psoas abscess as a complication after infected hydronephrosis and intervention during pregnancy has never been reported in the literature. Even for obese patients, minimally invasive therapy may be a treatment option that has rarely been reported in the literature.


Subject(s)
Psoas Abscess , Pyonephrosis , Humans , Female , Pregnancy , Adult , Psoas Abscess/surgery , Psoas Abscess/diagnosis , Cesarean Section/adverse effects , Pyonephrosis/complications , Pyonephrosis/drug therapy , Anti-Bacterial Agents/therapeutic use , Drainage/adverse effects , Obesity/complications
5.
Arch Gynecol Obstet ; 309(4): 1341-1351, 2024 Apr.
Article in English | MEDLINE | ID: mdl-36966429

ABSTRACT

PURPOSE: In adults and fetuses, N-terminal pro-B-type natriuretic peptide (NT-proBNP) is a marker of cardiac failure and myocardial remodelling. We examined the effect of anemia and intrauterine transfusion (IUT) on NT-proBNP concentrations in fetuses with anemia and established gestational age-dependent reference values of a control group. METHODS: We analyzed NT-proBNP levels in anemic fetuses that underwent serial intrauterine transfusions (IUT), focusing on different causes and severity of anemia and comparing the results to a non-anemic control group. RESULTS: In the control group, the average NT-proBNP concentration was 1339 ± 639 pg/ml, decreasing significantly with increasing gestational age (R = - 74.04, T = - 3.65, p = 0.001). Subjects had significantly higher NT-proBNP concentrations before initiation of IUT therapy (p < 0.001), showing fetuses with parvovirus B19 (PVB19) infection having the highest concentrations. Hydropic fetuses also showed an increased NT-proBNP concentration compared to non-hydropic fetuses (p < 0.001). During the course of therapy, NT-proBNP concentration before subsequent IUT decreased significantly from pathologically high levels, while MoM-Hb and MoM-MCA-PSV remained pathological. CONCLUSION: NT-pro BNP levels in non-anemic fetuses are higher than in postnatal life, decreasing with ongoing pregnancy. Anemia is a hyperdynamic state and its severity correlates with circulating NT-proBNP levels. Highest concentrations occur in fetuses with hydrops and with PVB19 infection, respectively. Treatment by IUT leads to a normalisation of NT-proBNP concentrations, so the measurement of its levels may be useful in therapy monitoring.


Subject(s)
Anemia , Fetal Diseases , Peptide Fragments , Pregnancy , Female , Adult , Humans , Fetal Diseases/therapy , Natriuretic Peptide, Brain , Anemia/therapy , Fetus , Blood Transfusion, Intrauterine/methods
6.
Prenat Diagn ; 44(2): 138-147, 2024 02.
Article in English | MEDLINE | ID: mdl-37060206

ABSTRACT

OBJECTIVE: Evaluation of course and outcome of pregnancies with prenatally diagnosed fetal urinoma in a single center over a 20-year period. METHODS: Retrospective study including all prenatally suspected or diagnosed fetal urinomas. Cases were analyzed by ultrasound findings during pregnancy, comparing urinomas caused by lower urinary tract obstruction (LUTO) and ureteropelvic or ureterovesical junction obstruction (UPJO/UVJO). Course of pregnancy and outcomes were compared according to the underlying etiology. RESULTS: 87 cases of fetal urinomas were identified between 2002 and 2022. The underlying etiology was LUTO in 56.3% and UPJO/UVJO in 43.7%. Complications mainly included oligo- or anhydramnios, thoracic hypoplasia as well as associated renal abnormalities. Postnatally, loss of function (LOF) in kidneys affected by urinomas was seen in 78.6% of children overall, but significantly more often in cases of UPJO/UVJO than in LUTO (86.2% vs. 70.2%, p < 0.05). CONCLUSION: Association of prenatal urinoma and postnatal LOF of the affected kidney is high, especially in cases caused by UPJO/UVJO. In survivors with urinoma caused by UPJO/UVJO, the general prognosis is excellent if the contralateral kidney was normal. In survivors with urinomas caused by LUTO, long-term prognosis depends on postnatal renal and pulmonary function.


Subject(s)
Ureteral Obstruction , Urinoma , Pregnancy , Child , Female , Humans , Urinoma/diagnosis , Retrospective Studies , Prenatal Diagnosis , Kidney/diagnostic imaging , Fetus , Ultrasonography, Prenatal
7.
J Clin Med ; 12(21)2023 Oct 29.
Article in English | MEDLINE | ID: mdl-37959298

ABSTRACT

Artificial intelligence (AI) has gained prominence in medical imaging, particularly in obstetrics and gynecology (OB/GYN), where ultrasound (US) is the preferred method. It is considered cost effective and easily accessible but is time consuming and hindered by the need for specialized training. To overcome these limitations, AI models have been proposed for automated plane acquisition, anatomical measurements, and pathology detection. This study aims to overview recent literature on AI applications in OB/GYN US imaging, highlighting their benefits and limitations. For the methodology, a systematic literature search was performed in the PubMed and Cochrane Library databases. Matching abstracts were screened based on the PICOS (Participants, Intervention or Exposure, Comparison, Outcome, Study type) scheme. Articles with full text copies were distributed to the sections of OB/GYN and their research topics. As a result, this review includes 189 articles published from 1994 to 2023. Among these, 148 focus on obstetrics and 41 on gynecology. AI-assisted US applications span fetal biometry, echocardiography, or neurosonography, as well as the identification of adnexal and breast masses, and assessment of the endometrium and pelvic floor. To conclude, the applications for AI-assisted US in OB/GYN are abundant, especially in the subspecialty of obstetrics. However, while most studies focus on common application fields such as fetal biometry, this review outlines emerging and still experimental fields to promote further research.

8.
J Clin Med ; 12(21)2023 Oct 30.
Article in English | MEDLINE | ID: mdl-37959306

ABSTRACT

BACKGROUND: Cordocentesis is used in clinical situations in which lower-risk diagnostic procedures do not deliver the desired results. The aim of this study was to evaluate the risk for procedure-related complications and fetal loss in correlation to maternal risk factors. METHODS: This is a multicenter retrospective study investigating the complications, risk factors and perinatal outcome of diagnostic cordocentesis between 1998 and 2019 in three different centers. RESULTS: A total of 1806 cordocenteses were performed and procedure-related complications (IUFD within 48 h, contractions, bradycardia, unsuccessful puncture, chorioamniotic separation) were noted in 1.6% of cases. Fetuses with chromosomal aberrations, intrauterine growth restriction and hydropic fetuses had a significantly higher rate of fetal loss compared to other indications. Fetal blood sampling (FBS) performed before 17+0 weeks of gestation was associated with a higher risk of procedure-related complications. Maternal BMI ≥ 40 increased the risk for fetal loss, whereas maternal age, number of previous miscarriages, number of previous abortions, history of vaginal bleeding or nicotine abuse did not affect the risk for complications or overall fetal loss rate. CONCLUSIONS: In the hands of experienced operators, FBS is a safe way to further fetal diagnostics, and the risk of complications is low.

9.
J Clin Med ; 12(22)2023 Nov 09.
Article in English | MEDLINE | ID: mdl-38002614

ABSTRACT

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.

10.
J Clin Med ; 12(14)2023 Jul 24.
Article in English | MEDLINE | ID: mdl-37510974

ABSTRACT

To summarize the evidence on non-hemorrhagic adrenal infarction (NHAI) and identify questions arising in diagnosis and management, cases in the PubMed database were merged with our case series. A total of 92 publications were retrieved, 15 of which reported on NHAI during pregnancy. Including the four in our case series, 24 cases have been described so far. Severe, unremitting pain requiring opioid analgesia was the leading symptom, often combined with nausea and vomiting. Laboratory results were non-contributory in most cases. Diagnosis was established via MRI in nine cases (37.5%) and via CT in six (25%); nine patients (37.5%) underwent both investigations. Location was predominantly on the right side (n = 16, 66.7%). In addition to analgesia, anticoagulation with heparin was commenced in 18 cases (75%). When thrombophilia screening was performed, major thrombogenic polymorphisms were detected in six cases (33.3%). One woman developed signs of adrenal insufficiency. The reported perinatal outcome was unremarkable. Unilateral NHAI has emerged as a rare but important cause of severe abdominal pain in pregnancy. The threshold to perform an MRI in pregnant women with characteristic clinical findings should be low. To prevent fetal radiation exposure, diagnostic imaging via CT should be avoided. In addition to symptomatic treatment with opioid analgesia, initiation of anticoagulant treatment should be strongly considered.

11.
J Clin Med ; 12(13)2023 Jun 28.
Article in English | MEDLINE | ID: mdl-37445401

ABSTRACT

OBJECTIVE: to assess the course and outcome of fetuses affected by primary cardiomyopathy (CM). METHODS: Retrospective study of 21 cases with prenatal diagnosis of a primary CM in one tertiary center over a period of 20 years. Charts were reviewed for echocardiographic findings, pregnancy outcome, and postnatal course. The utility of prenatal evaluation was discussed. RESULTS: The mean gestational age (GA) at diagnosis was 26.7 (±5.1) weeks. A total of 33.3% (7/21) had associated anomalies. Genetic etiology was confirmed in 50.0% (10/20, with one case lost to follow up). The overall survival rate of the entire study population was 40% (8/20) including termination of pregnancy in 20% (4/20) and an intrauterine mortality rate of 5% (1/20). Of the initial survivors (n = 15), a neonatal and early infant mortality rate of 46.7% (7/15) was calculated. Prenatal isolated right ventricular involvement was the only identified significant parameter for survival (p = 0.035). Four phenotypical groups were identified: 42.9% (9/21) hypertrophic (HCM), 38.1% (8/21) dilated (DCM), 14.3% (3/21) isolated noncompaction (NCCM), and 4.8% (1/21) restrictive CM (RCM). Fetuses assigned to isolated NCCM revealed a 100% survival rate. CONCLUSION: Prenatal detection is feasible but needs to a introduce classification method for better consulting and management practices. A poor outcome is still observed in many cases, but an increase in examiners' awareness may influence optimal multispecialized care.

12.
J Clin Med ; 12(9)2023 Apr 24.
Article in English | MEDLINE | ID: mdl-37176528

ABSTRACT

BACKGROUND: Portal hypertension in pregnancy is characterized by an increased perinatal and maternal complication rate. The purpose of this study was to evaluate the perinatal and maternal outcomes of these high-risk pregnancies at our tertiary center. METHODS: We identified pregnancies with portal hypertension in our departmental database for the years 2013 to 2021. The medical history and perinatal and maternal data were extracted from medical records. RESULTS: Eleven cases were identified. In pregnancy, delivery and postpartum, complications occurred in 72.7% of cases and included among others ascites, subclavian thrombosis, variceal-ligation-induced ulcer bleeding and postoperative hemorrhage. The cesarean delivery rate was 72.7% (n = 8); five of these were done for obstetric or fetal indications. The rate of preterm birth and admissions to neonatal intensive care unit were high (54.5% and 45.5%, respectively). CONCLUSIONS: Our case series substantiates the high maternal and perinatal complication rates seen in portal hypertension. The prevention of thromboembolic and bleeding complications was the main challenge. Care by an interdisciplinary team of experts is crucial for a successful perinatal and maternal outcome.

15.
Arch Gynecol Obstet ; 308(4): 1287-1300, 2023 10.
Article in English | MEDLINE | ID: mdl-36310336

ABSTRACT

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.


Subject(s)
Polycystic Kidney Diseases , Polycystic Kidney, Autosomal Dominant , Polycystic Kidney, Autosomal Recessive , Female , Humans , Pregnancy , Polycystic Kidney Diseases/diagnostic imaging , Kidney/diagnostic imaging , Kidney/abnormalities , Amniotic Fluid/diagnostic imaging , Ultrasonography, Prenatal , Algorithms
16.
Ultraschall Med ; 44(5): e226-e240, 2023 Oct.
Article in English | MEDLINE | ID: mdl-35777369

ABSTRACT

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.


Subject(s)
Bays , Heart Defects, Congenital , Pregnancy , Infant, Newborn , Humans , Male , Female , Child , Infant , Retrospective Studies , Ultrasonography, Prenatal , Prenatal Diagnosis , Heart Defects, Congenital/diagnostic imaging , Fetus
17.
Arch Gynecol Obstet ; 308(1): 117-125, 2023 07.
Article in English | MEDLINE | ID: mdl-35916962

ABSTRACT

PURPOSE: Evaluating procedure-related complications and perinatal outcomes after intrauterine transfusion (IUT) before or after 20+0 weeks of gestation in fetuses with severe anemia due to intrauterine human parvovirus B19 infection. METHODS: A retrospective study investigating fetuses requiring IUT for fetal Parvo B19 infection in two tertiary referral centers between December 2002 and December 2021. Procedure-related complications, intrauterine fetal death (IUFD), and perinatal outcome were correlated to gestational age (GA) at first IUT, the presence of hydrops and fetal blood sampling results. RESULTS: A total of 186 IUTs were performed in 103 fetuses. The median GA at first IUT was 19+3 (13+0-31+4) weeks of gestation. IUFD occurred in 16/103 fetuses (15.5%). Overall survival was 84.5% (87/103). Hydrops (p = 0.001), lower mean hemoglobin at first IUT (p = 0.001) and low platelets (p = 0.002) were strongly associated with IUFD. There was no difference observed in fetuses transfused before or after 20+0 weeks of gestation. CONCLUSION: IUT is a successful treatment option in fetuses affected by severe anemia due to parvovirus B19 infection in specialized centers. In experienced hands, IUT before 20 weeks is not related to worse perinatal outcome.


Subject(s)
Anemia , Erythema Infectiosum , Parvoviridae Infections , Parvovirus B19, Human , Pregnancy Complications, Infectious , Pregnancy , Female , Humans , Erythema Infectiosum/complications , Erythema Infectiosum/therapy , Retrospective Studies , Blood Transfusion, Intrauterine , Parvoviridae Infections/complications , Parvoviridae Infections/therapy , Anemia/etiology , Anemia/therapy , Pregnancy Complications, Infectious/therapy , Fetal Death/etiology , Fetus , Edema , Hydrops Fetalis/etiology , Hydrops Fetalis/therapy
18.
Ultraschall Med ; 44(1): e62-e71, 2023 Feb.
Article in English | MEDLINE | ID: mdl-34225376

ABSTRACT

OBJECTIVES: Prenatal prediction of postnatal univentricular versus biventricular circulation in patients with borderline left ventricle (bLV) remains challenging. This study investigated prenatal fetal echocardiographic parameters and postnatal outcome of patients with a prenatally diagnosed bLV. METHODS: We report a retrospective study of bLV patients at four prenatal centers with a follow-up of one year. BLV was defined as z-scores of the left ventricle (LV) between -2 and -4. Single-ventricle palliation (SVP), biventricular repair (BVR), and no surgical or catheter-based intervention served as the dependent outcome. Prenatal ultrasound parameters were used as independent variables. Cut-off values from receiver operating characteristic curves (ROC) were determined for significant discrimination between outcomes. RESULTS: A total of 54 patients were diagnosed with bLV from 2010 to 2018. All were live births. Out of the entire cohort, 8 (15 %) received SVP, 34 (63 %) BVR, and 12 (22 %) no intervention. There was no significant difference with regard to genetic or extracardiac anomalies. There were significantly more patients with endocardial fibroelastosis (EFE) in the SVP group compared to the BVR group (80 % vs. 10 %), (p < 0.001). Apex-forming LV (100 % vs. 70 %) and lack of retrograde arch flow (20 % vs. 80 %) were associated with no intervention (p < 0.001). With respect to BVR vs. SVP, the LV sphericity index provided the highest specificity (91.7 %) using a cutoff value of ≤ 0.5. CONCLUSION: The majority of bLV patients maintained biventricular circulation. EFE, retrograde arch flow, and LV sphericity can be helpful parameters for counseling parents and further prospective studies can be developed.


Subject(s)
Echocardiography , Heart Ventricles , Pregnancy , Female , Humans , Retrospective Studies , Prospective Studies , Echocardiography/methods , ROC Curve , Ultrasonography, Prenatal/methods
19.
J Med Genet ; 60(1): 48-56, 2023 01.
Article in English | MEDLINE | ID: mdl-34740919

ABSTRACT

BACKGROUND: Fetal akinesia (FA) results in variable clinical presentations and has been associated with more than 166 different disease loci. However, the underlying molecular cause remains unclear in many individuals. We aimed to further define the set of genes involved. METHODS: We performed in-depth clinical characterisation and exome sequencing on a cohort of 23 FA index cases sharing arthrogryposis as a common feature. RESULTS: We identified likely pathogenic or pathogenic variants in 12 different established disease genes explaining the disease phenotype in 13 index cases and report 12 novel variants. In the unsolved families, a search for recessive-type variants affecting the same gene was performed; and in five affected fetuses of two unrelated families, a homozygous loss-of-function variant in the kinesin family member 21A gene (KIF21A) was found. CONCLUSION: Our study underlines the broad locus heterogeneity of FA with well-established and atypical genotype-phenotype associations. We describe KIF21A as a new factor implicated in the pathogenesis of severe neurogenic FA sequence with arthrogryposis of multiple joints, pulmonary hypoplasia and facial dysmorphisms. This hypothesis is further corroborated by a recent report on overlapping phenotypes observed in Kif21a null piglets.


Subject(s)
Arthrogryposis , Humans , Animals , Swine , Mutation/genetics , Arthrogryposis/genetics , Arthrogryposis/pathology , Loss of Heterozygosity , Fetus , Phenotype , Pedigree , Kinesins/genetics
20.
Ultraschall Med ; 44(4): e184-e190, 2023 Aug.
Article in English | MEDLINE | ID: mdl-35512837

ABSTRACT

PURPOSE: Aorto-left ventricular tunnel (ALVT) is an extremely rare, albeit prenatally detectable, extracardiac channel that connects the ascending aorta to the cavity of the left ventricle. MATERIALS AND METHODS: All ALVTs diagnosed prenatally (2006-2020) in five tertiary referral centers were retrospectively assessed for prenatal ultrasound findings, intrauterine course, postnatal outcome, and surgical treatment. We focused on the size of the tunnel and alterations of perfusion of the left ventricular outflow tract and aortic arch. RESULTS: 11 fetuses were diagnosed with ALVT at a mean gestational age of 24.8 weeks. All cases were associated with severe dilatation of the left ventricle and a to-and-fro flow in the left outflow tract. Signs of congestive heart failure were present in five fetuses, four of which were terminated and one of which died in the neonatal period. One fetus died in utero at 34 weeks without prior signs of cardiac failure. Of the five survivors, two underwent the Ross procedure. In both cases the prenatal left ventricular outflow was exclusively via a large tunnel. The remaining three neonates underwent patch closure of the tunnel. In these cases, the prenatal outflow of the left ventricle was via the aortic valve and simultaneously over the tunnel. CONCLUSION: Prenatal diagnosis of ALVT should be considered in the presence of left ventricular hypertrophy, dilatation of the aortic root, and to-and-fro flow in the aortic outflow tract. Signs of heart failure are associated with an unfavorable outcome. Large tunnels, particularly in combination with the absence of flow over the aortic valve, may be an unfavorable predictor of surgical repair.


Subject(s)
Aortic Valve Insufficiency , Aortico-Ventricular Tunnel , Infant, Newborn , Pregnancy , Female , Humans , Infant , Aortic Valve Insufficiency/surgery , Retrospective Studies , Aorta/diagnostic imaging , Aorta/surgery , Prenatal Diagnosis , Heart Ventricles/diagnostic imaging , Heart Ventricles/surgery
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