共查询到20条相似文献,搜索用时 562 毫秒
1.
Objective
To determine the perinatal outcomes of fetuses diagnosed with a pathogenic copy number variant (CNV) or variant of uncertain significance (VUS); and to characterize these variants in terms of testing indication, genomic location, size, and inheritance.Methods
Retrospective study of singleton pregnancies with a pathogenic CNV or VUS from a single laboratory during 2012–2018. Probabilistic record linkage between the prenatal diagnosis dataset and perinatal outcome data for births from 20 weeks gestation was performed. If no birth record was found, this implied a pregnancy loss <20 weeks.Results
We included 6945 prenatal microarray results; a pathogenic CNV was detected in 230 (3.3%, 95% CI: 2.9%–3.8%) and a VUS in 483 (7.0%, 95% CI: 6.4%–7.6%). Of pregnancies with a pathogenic CNV, 20.0% (95% CI: 15.3%–25.6%) had a live birth, 3.0% (95% CI: 1.5%–6.2%) had a perinatal death (stillbirth or neonatal death), and 77% (95% CI: 71.1%–81.9%) had no birth record. Of those with a VUS, 64.4% (95% CI: 60.0%–68.5%) had a live birth, 1.8% (95% CI: 1.0%–3.5%) had a perinatal death, and no birth record was found for 33.7% (95% CI: 29.7%–38.1%). Most pathogenic CNVs (61.1%) were <7 Mb in size. The most common microdeletion syndromes were DiGeorge, Wolf-Hirschhorn, and Cri-du-chat syndromes.Conclusion
This study provides an overview of perinatal outcomes and frequency of recurrent CNVs observed in the prenatal microarray era. 相似文献2.
3.
Jan S. Erkamp Vincent W.V. Jaddoe Liesbeth Duijts Irwin K.M. Reiss Annemarie G.M.G.J. Mulders Eric A.P. Steegers Romy Gaillard 《黑龙江环境通报》2020,40(6):746-757
Objective
To determine screening performance of maternal, fetal and placental characteristics for selecting pregnancies at risk of gestational hypertension and preeclampsia in a low-risk multi-ethnic population.Method
In a prospective population-based cohort among 7124 pregnant women, we collected maternal characteristics including body mass index, ethnicity, parity, smoking and blood pressure in early-pregnancy. Fetal characteristics included second and third trimester estimated fetal weight and sex determined by ultrasound. Placental characteristics included first and second trimester placental growth factor concentrations and second and third trimester uterine artery resistance indices.Results
Maternal characteristics provided the best screening result for gestational hypertension (area-under-the-curve [AUC] 0.79 [95% Confidence interval {CI} 0.76-0.81]) with 40% sensitivity at 90% specificity. For preeclampsia, the maternal characteristics model led to a screening performance of AUC 0.74 (95% CI 0.70-0.78) with 33% sensitivity at 90% specificity. Addition of second and third trimester placental ultrasound characteristics only improved screening performance for preeclampsia (AUC 0.78 [95% CI 0.75-0.82], with 48% sensitivity at 90% specificity).Conclusion
Routinely measured maternal characteristics, known at the start of pregnancy, can be used in screening for pregnancies at risk of gestational hypertension or preeclampsia within a low-risk multi-ethnic population. Addition of combined second and third trimester placental ultrasound characteristics only improved screening for preeclampsia.4.
Vagisha Pruthi Nimrah Abbasi Varsha Thakur Shiri Shinar Anne O’Connor Rachel Silver Tasha Simpson Tim Van Mieghem 《黑龙江环境通报》2023,43(7):881-888
Objective
Ultrasound assessment of the fetal anatomy and fetal echocardiography are feasible in the first trimester of pregnancy. This study was designed to assess the performance of a comprehensive fetal anatomy assessment in a high-risk population at a tertiary fetal medicine unit.Methods
A retrospective review of high-risk patients undergoing comprehensive fetal anatomy ultrasound assessment between 11 weeks and 13 + 6 weeks of gestation was conducted. Findings of the early anatomy ultrasound scan were compared with those of the second trimester anatomy scan, and birth outcomes or post-mortem results.Results
Early anatomy ultrasounds were performed in 765 patients. The sensitivity of the scan for detecting fetal anomalies compared to the birth outcome was 80.5% (95% CI 73.5–86.3) and specificity was 93.1% (95%CI 90.6–95.2). Positive and negative predictive values were 78.5% (95% CI 71.4–84.6) and 93.9% (95% CI 91.4–95.8), respectively. The most missed and overdiagnosed abnormalities were ventricular septal defects. The second trimester ultrasound had sensitivity of 69.0% (95% CI 55.5–80.5) and specificity of 87.5% (95% CI 84.3–90.2).Conclusions
In a high-risk population, early assessments had similar performance metrics as the second trimester anatomy ultrasound. We advocate for a comprehensive fetal assessment in the care of high-risk pregnancies. 相似文献5.
Manon Gijtenbeek Monique C. Haak Tom J. P. Huberts Johanna M. Middeldorp Frans J. C. M. Klumper Femke Slaghekke Enrico Lopriore Dick Oepkes Jeanine M. M. van Klink 《黑龙江环境通报》2020,40(7):825-830
Objective
To investigate whether perioperative fetal hemodynamic changes in twin-to-twin transfusion syndrome (TTTS) are associated with neurodevelopmental impairment (NDI) at two years.Methods
Doppler parameters of three sonograms (day before, first day after and 1 week after laser surgery for TTTS) were assessed for correlation with neurodevelopmental outcome at two years (2008-2016). NDI was defined as: cerebral palsy, deafness, blindness, and/or a Bayley-III cognitive/motor developmental test-score > 2SD below the mean.Results
Long-term outcome was assessed in 492 TTTS survivors. NDI was present in 5% (24/492). After adjustment for severe cerebral injury (present in 4%), associated with NDI were: middle cerebral artery peak systolic velocity (MCA-PSV) >1.5 multiples of the median (MoM) 1 day after surgery (odds ratio [OR] 4.96; 95% confidence interval [CI]: 1.17-21.05, P = .03), a change from normal umbilical artery pulsatility index (UA-PI) presurgery to UA-PI >p95 postsurgery (OR 4.19; 95% CI: 1.04-16.87, P = .04), a change from normal to MCA-PSV >1.5MoM (OR 4.75; 95% CI: 1.43-15.77, P = .01).Conclusion
Perioperative fetal hemodynamic changes in TTTS pregnancies treated with laser are associated with poor neurodevelopmental outcome. Prospective research on the cerebrovascular response to altered hemodynamic conditions is necessary to further understand the cerebral autoregulatory capacity of the fetus in relation to neurodevelopmental outcome. 相似文献6.
Julia Wynn Jennifer Hoskovec Rebecca D. Carter Meredith J. Ross Sriram C. Perni 《黑龙江环境通报》2023,43(10):1344-1354
Objective
Carrier screening with reflex to single-gene noninvasive prenatal testing (sgNIPT) is an alternative approach for identifying pregnancies at risk for inherited autosomal recessive conditions without the need for a sample from the reproductive partner. This study is the largest clinical validation of this approach in a general population setting.Methods
The clinical performance of carrier screening with reflex to sgNIPT for cystic fibrosis, spinal muscular atrophy, alpha thalassemias, and beta hemoglobinopathies was assessed by collecting pregnancy outcome data on patients who underwent this testing and comparing the neonatal outcome to the assay-predicted fetal risk.Results
Of 42,067 pregnant individuals who underwent screening, 7538 carriers (17.9%) had reflex sgNIPT, and neonatal or fetal outcomes were obtained for 528 cases, including 25 affected pregnancies. Outcomes demonstrated high concordance with sgNIPT, for example, all pregnancies with 9 in 10 personalized fetal risk results were affected (positive predictive value (PPV) of 100% for the sub-group) and the sgNIPT assay showed a sensitivity of 96.0% (95% CI: 79.65%–99.90%), specificity of 95.2% (95% CI: 92.98%–96.92%), average PPV of 50.0% (95% CI: 35.23%–64.77%), and negative predictive value (NPV) of 99.8% (95% CI: 98.84%–99.99%). The end-to-end performance of carrier screening with reflex to sgNIPT was calculated to have a sensitivity of 92.4% and specificity of 99.9%, which are unaffected by partner carrier screening or misattributed paternity unlike a traditional carrier screening workflow, which has a 35% sensitivity and a maximum of 25% PPV (1 in 4) in a real-life setting.Conclusion
This study builds upon earlier findings to confirm that carrier testing with reflex to sgNIPT is highly accurate for general population screening. Given this high accuracy and an NPV of 99.8%, this workflow should be considered as an option for most of the general pregnant population. When the biological partner sample is unavailable, this workflow should be recommended as the first-line approach. 相似文献7.
Braxton Forde Foong-Yen Lim David N. McKinney Mounira Habli Kara B. Markham Mallory Hoffman Sammy Tabbah Marc Oria Jose L. Peiro 《黑龙江环境通报》2023,43(9):1239-1246
Objective
To evaluate the impact of amnioinfusion and other peri-operative factors on pregnancy outcomes in the setting of Twin-twin transfusion syndrome (TTTS) treated via fetoscopic laser photocoagulation (FLP).Methods
Retrospective study of TTTS treated via FLP from 2010 to 2019. Pregnancies were grouped by amnioinfusion volume during FLP (<1 L vs. ≥1 L). The primary outcome was latency from surgery to delivery. An amnioinfusion statistic (AIstat) was created for each surgery based on the volume of fluid infused and removed and the preoperative deepest vertical pocket. Regression analysis was planned to assess the association of AIstat with latency.Results
Patients with amnioinfusion of ≥1 L at the time of FLP had decreased latency from surgery to delivery (61 ± 29.4 vs. 73 ± 28.8 days with amnioinfusion <1 L, p < 0.001) and increased preterm prelabor rupture of membranes (PPROM) <34 weeks (44.7% vs. 33.5%, p = 0.042). Amnioinfusion ≥1 L was associated with an increased risk of delivery <32 weeks (aRR 2.6, 95% CI 1.5–4.5), 30 weeks (aRR 2.4, 95% CI 1.5–3.8), and 28 weeks (aRR 1.9, 95% CI 1.1–2.3). Cox-proportional regression revealed that AIstat was inversely associated with latency (HR 1.1, 95% CI 1.1–1.2).Conclusion
Amnioinfusion ≥1 L during FLP was associated with decreased latency after surgery and increased PPROM <34 weeks. 相似文献8.
Objective
Traditional obstetric practice relies upon history-based assessment to screen for preeclampsia and guide preventative therapies but is hampered by low sensitivity, high false-positive rates and low treatment rates. First-trimester screening algorithms represent the most efficacious approach for risk prediction and could target early initiation of aspirin to well-defined high-risk populations. A large randomised controlled trial has demonstrated the clinical benefits of this approach, but widespread practice implementation has remained elusive.Methods
We performed a systematic review and meta-analysis summarising studies linking first-trimester preeclampsia screening algorithms with the initiation of preventative therapy and examined their effect on pre-term preeclampsia rates compared with standard maternity care. Odds ratios were calculated together with 95% confidence intervals.Results
7 studies with a total of 377,790 participants were included. Within singleton populations, early initiation of aspirin in response to a high-risk screening algorithm result reduced the prevalence of pre-term preeclampsia by 39% compared with routine antenatal care (odds ratio 0.61; 95% CI: 0.52–0.70). There were significant reductions in the prevalence of preeclampsia at <32–34 weeks, preeclampsia at any gestation and stillbirth.Conclusion
First-trimester screening algorithms for preeclampsia aligned with early initiation of preventative therapy with aspirin reduce the prevalence of pre-term preeclampsia. 相似文献9.
Alice D'Amico Danilo Buca Giuseppe Rizzo Asma Khalil Claudia Silvi Alexander Makatsariya Luigi Nappi Marco Liberati Francesco D'Antonio 《黑龙江环境通报》2021,41(4):391-399
The main aim of this systematic review was to explore the outcome of fetuses with isolated echogenic bowel (EB) on antenatal ultrasound. Inclusion criteria were singleton pregnancies with isolated EB no associated major structural anomalies at the time of diagnosis. The outcomes observed were: chromosomal anomalies, cystic fibrosis (CF), associated structural anomalies detected only at follow-up scans and at birth, regression during pregnancy, congenital infections, intra-uterine (IUD), neonatal (NND) and perinatal (PND) death. Twenty-five studies (12 971 fetuses) were included. Chromosomal anomalies occurred in 3.3% of the fetuses, mainly Trisomy 21 and aneuploidies involving the sex chromosomes. Cystic fibrosis occurred in 2.2%. Congenital infections affected 2.2%, mainly congenital Cytomegalovirus (CMV) infection. The majority of fetuses with EB experienced regression or disappearance of the EB at follow-up scans. Associated anomalies were detected at a follow-up scan in 1.8%. Associated anomalies were detected at birth and missed at ultrasound in 2.1% of cases. IUD occurred in 3.2% of cases while the corresponding figures for NND and PND were 0.4% and 3.1%. Fetuses with EB are at increased risk of adverse perinatal outcome, highlighting the need for a thorough antenatal management and postnatal follow-up. Assessment during pregnancy and after birth should be performed in order to look for signs of fetal aneuploidy, congenital infections and associated structural anomalies. 相似文献
10.
Raphaële Mangione Etienne Voirin-Mathieu Marianne Yvert Nicolas Fries Eve Mousty Vanina Castaigne Françoise Muller Sophie Dreux for the DILDIG Study Group 《黑龙江环境通报》2023,43(3):328-338
Objectives
To define the prognostic markers of fetal dilated bowel loops.Methods
National non-interventional study of 133 consecutive prenatal observations of dilated loops including ultrasound examinations, complementary laboratory tests, magnetic resonance imaging (MRI), outcomes, and postnatal diagnosis.Results
One hundred twenty seven cases were classified according to outcome: Group 1, very severe (n = 43), Group 2, children needing specific care (n = 39), and Group 3, healthy children (n = 45). Prenatal ultrasound scan suggested duodenal obstruction in 30 cases, small bowel obstruction in 81, colonic obstruction in 11, and diffuse dilatation in 5. Diameter of dilated loops did not significantly differ between the groups. A poor prognosis was significantly associated with duodenal obstruction, genetic anomalies (53% vs. 21.8%), including aneuploidies or CFTR gene mutations and abnormal amniotic fluid biochemistry (86.4% vs. 38.7%). A good prognosis was associated with regression of dilatation and normal MRI.Conclusion
In this study, postnatal outcomes for fetuses with intestinal dilatation were best predicted by assessing the level of obstruction with prenatal ultrasound and MRI, determining the presence of associated malformations, amniotic fluid biochemical and genetic testing, and monitoring for regression of bowel dilatation. These results should help inform future guidelines on the prenatal and neonatal management of congenital intestinal obstruction. 相似文献11.
Meta-analysis of randomized studies on the use of low-dose aspirin in women at high risk of preeclampsia (PE) has demonstrated that if treatment is initiated at ≤16 weeks' gestation, there is significant reduction in the risk of PE [relative risk (RR) 0.47, 95% confidence interval (CI) 0.36–0.62], fetal growth restriction (RR 0.46, 95% CI 0.33–0.64), preterm birth (RR 0.35, 95% CI 0.22–0.57) and perinatal death (RR 0.41, 95% CI 0.19–0.92), whereas the effect of treatment after 16 weeks is substantially less (RR 0.78, 95% CI 0.61–0.99; RR 0.98, 95% CI 0.88–1.08; RR 0.90, 95% CI 0.83–0.97; and RR 0.93, 95% CI 0.73–1.19, respectively). Moreover, the decrease in the risk of PE from early onset treatment seems to be related to the dose of aspirin, and a dose of >80 mg daily should be considered for optimal benefits. © 2014 John Wiley & Sons, Ltd. 相似文献
12.
Karen Mei Xian Lim Celine Lewis Hung Chew Wong Glenda Sze Ling Chong Arundhati Gosavi Mahesh Arjandas Choolani 《黑龙江环境通报》2023,43(1):42-50
Background
Poor knowledge and the lack of deliberation have been cited as reasons for women making uninformed choices about aneuploidy screening. Adequate pre-test counselling is of particular importance where non-invasive prenatal screening (NIPS) is being increasingly offered as a primary screening test.Design
Women attending the antenatal clinic with a singleton pregnancy below 14 weeks were randomised to receive routine counselling or the intervention—a 16-min educational video on aneuploidy screening before their consult. The primary outcome, rate of informed choice, was assessed using an adapted multidimensional measure of informed choice questionnaire, where informed choice was defined as good knowledge and value-consistent behaviour. Secondary outcomes included informed choice with deliberation, decisional conflict and anxiety.Results
Two hundred and eighty-six women were recruited. 69.8% of women in the intervention group made an informed choice compared with 53.6% in the control group (Risk Ratio [RR] 1.30, p = 0.014). A significantly higher number of women in the intervention group had good knowledge compared to controls (81% vs. 60.9%; RR 1.33, p = 0.001). Decisional conflict did not differ between groups, but women in the intervention group had higher anxiety scores (p < 0.001).Conclusion
The study intervention was effective in helping women make informed choice. Qualitative studies to determine the reason for increased anxiety are needed.Trial registration
Trial registry: ClinicalTrials.gov ; Identifier: NCT05492981. 相似文献13.
Simen Vergote Francesca Maria Russo David Basurto Jan Deprest Neeltje Crombag 《黑龙江环境通报》2023,43(8):1018-1027
Objective
To explore the views and practices of maternal-fetal medicine specialists on offering fetoscopic endoluminal tracheal occlusion (FETO) for left- and right-sided congenital diaphragmatic hernia (LCDH, RCDH) in the post Tracheal Occlusion To Accelerate Lung growth (TOTAL)-trial era.Method
Cross-sectional knowledge, attitude and practice survey was conducted among 105 attendees of the 19th World Congress of Fetal Medicine.Results
On average, respondents were knowledgeable about CDH, involved in research, and provided antenatal treatment options. Four out of five (82%) agreed that neonatal survival in LCDH can be reliably predicted in the prenatal period. Few respondents considered the exact risks and benefits of FETO for severe LCDH as being unclear (16%), yet half were uncertain about this for moderate LCDH (57%) and severe RCDH (45%). Most respondents offer FETO for severe LCDH (97%) and RCDH (79%), but only 59% offer it for moderate LCDH. However, half of respondents (58%) stated that not offering FETO for moderate LCDH would be a psychological burden for parents.Conclusion
Respondents consider the risk-benefit ratio of FETO for severe LCDH clear and consistently offer FETO, but not for moderate LDCH and severe RCDH. However, not offering the option of FETO to parents was considered a psychological burden. 相似文献14.
Julia Geppert Chris Stinton Samantha Johnson Aileen Clarke Dimitris Grammatopoulos Sian Taylor-Phillips 《黑龙江环境通报》2020,40(4):454-462
Objective
To evaluate the test accuracy of non-invasive prenatal testing (NIPT) for fetal trisomy 21, 18, and 13 using cell-free (cf) DNA analysis in maternal plasma with microarray quantitation.Method
Systematic review and meta-analysis. Searches in MEDLINE, Pre-MEDLINE, EMBASE, Web of Science, and the Cochrane Library to 09.07.2018.Results
Five studies analyzing 3074 samples, including 187 trisomy 21, 43 trisomy 18, and 19 trisomy 13 cases, were identified. Risk of bias was high in all studies, introduced particularly by exclusions from analysis and by the role of the sponsor. Sensitivity of microarray-based cfDNA testing was 99.5% (95%CI 96.3%-99.9%) for trisomy 21, 97.7% (95%CI 87.9%-99.6%) for trisomy 18, and 100% (95%CI 83.2%-100%) for trisomy 13. Specificity was 100% (95% CI 99.87%-100%) for trisomy 21, 99.97% (95%CI 99.81%-99.99%) for trisomy 18, and 99.97% (95%CI 99.81%-99.99%) for trisomy 13. Pooled test failure rate was 1.1%. A direct comparison of microarray- and sequencing-based cfDNA found equivalent test accuracy.Conclusion
Included studies suggest that NIPT using microarray-based cfDNA testing has high sensitivity and specificity for detecting fetal trisomy 21, 18, and 13. However, the evidence base is small and at high risk of bias. 相似文献15.
Francesca Bardi Pien Bosschieter Joke Verheij Attie Go Monique Haak Mireille Bekker Esther Sikkel Audrey Coumans Eva Pajkrt Caterina Bilardo 《黑龙江环境通报》2020,40(2):197-205
Objectives
To give an overview of the genetic and structural abnormalities occurring in fetuses with nuchal translucency (NT) measurement exceeding the 95th percentile at first-trimester screening and to investigate which of these abnormalities would be missed if cell-free fetal DNA (cfDNA) were used as a first-tier screening test for chromosomal abnormalities.Methods
This is a national study including 1901 pregnancies with NT≥95th percentile referred to seven university hospitals in the Netherlands between 1 January 2010 and 1 January 2016. All cases with unknown pregnancy outcome were excluded. Results of detailed ultrasound examinations, karyotyping, genotyping, pregnancy and neonatal outcomes, investigation by a clinical geneticist and post-mortem investigations were collected.Results
In total, 821 (43%) pregnancies had at least one abnormality. The rate of abnormalities was 21% for fetuses with NT between 95th and 99th percentile and 62% for fetuses with NT≥99th percentile. Prevalence of single-gene disorders, submicroscopic, chromosomal and structural abnormalities was 2%, 2%, 30% and 9%, respectively.Conclusion
Although cfDNA is superior to the combined test, especially for the detection of trisomy 21, 34% of the congenital abnormalities occurring in fetuses with increased NT may remain undetected in the first trimester of pregnancy, unless cfDNA is used in combination with fetal sonographic assessment, including NT measurement. 相似文献16.
Roni Zemet Inna Amdur-Zilberfarb Moran Shapira Tomer Ziv-Baran Chen Hoffmann Eran Kassif Eldad Katorza 《黑龙江环境通报》2020,40(1):142-150
Objectives
The aim of this study was to evaluate the role of fetal magnetic resonance imaging (MRI) as a complement to ultrasound (US) in the prenatal diagnosis of craniofacial anomalies.Methods
A historical cohort study including all pregnant women who were referred for fetal MRI because of antenatal diagnosis of craniofacial anomalies on screening US. Prenatal diagnostic US, MRI, and postnatal diagnosis were compared for consistencies and discrepancies.Results
Forty-five pregnant women with 73 suspected fetal craniofacial anomalies diagnosed by US underwent MRI. In 40 out of 73 anomalies (54.8%), US and MRI findings were in complete agreement with postnatal diagnoses. MRI correctly ruled out the diagnosis of 24 anomalies suspected on US and diagnosed four additional pathologies that were not demonstrated by US. Out of the 85 anomalies (suspected by imaging or confirmed postnatally), confident diagnosis could be made by MRI in 68 anomalies (80%), not diagnosed in 10 (11.8%), and over-diagnosed in seven (8.2%). By US, confident diagnosis could be made in 44 anomalies (51.8%), not diagnosed in 11 (12.9%), and over-diagnosed in 30 (35.3%).Conclusion
MRI is valuable in the antenatal evaluation of fetal craniofacial anomalies and may be useful as an adjunct to US in the prenatal work-up of craniofacial anomalies. 相似文献17.
18.
Objective
To ascertain the perinatal outcomes for an apparently isolated exomphalos detected by prenatal ultrasound.Method
Our dataset captures cases from 614 321 births in the Wessex region of England and the Channel Isles on all cases of pre- or postnatally diagnosed exomphalos from 1994 to 2015. Ascertainment was >95%.Results
Three hundred and thirty five cases were reported to the register: 28 (8%) were not detected prenatally, 18 (6%) had already died in utero, 169 (55%) cases were found to have additional anomalies on first tertiary ultrasound scan and one case was lost to follow-up. Therefore 119 (39%) cases had an apparently isolated exomphalos. Of the 119 cases with only an exomphalos detected on first tertiary ultrasound scan, 25 (21%) had a chromosome abnormality. Of those with a normal or untested karyotype, 61% were confirmed to be an isolated anomaly after birth, 13% had an additional heart abnormality, 9% had Beckwith-Wiedemann syndrome and 11% had additional problems diagnosed postnatally.Conclusion
Our large population-based dataset with an average of 1 year's postnatal follow-up suggests that more than one-third of apparently isolated prenatal cases of exomphalos will have an additional finding detected after birth. These data should help assist clinicians in their prenatal counseling.19.
Jill K. Tjon Melinda M. E. H. Witbreuk Peter A. A. Struijs Bloeme J. van der Knoop Ingeborg H. Linskens Johanna I. P. de Vries 《黑龙江环境通报》2023,43(8):1056-1065
Objective
Children and adults with talipes equinovarus (TEV) have smaller calves and shorter feet compared to non-affected controls. Do these changes have a prenatal onset?Methods
A prospective cohort study (January 2020–July 2021) was conducted with serial ultrasonographic measurements at 20 and 28 weeks gestation and measurements directly and 6 weeks after birth. Calf circumference and width, foot length and length of humerus, ulna, radius, femur, tibia and fibula were measured in TEV and were compared to a control population. Calculated sample size necessitated a minimal population of 10 cases with TEV and 50 controls.Results
Twenty cases with TEV and 62 controls were included. Fetal calf circumference (p < 0.001) and width (p < 0.001) were smaller in the TEV group in comparison to the control group, which persisted after birth. Growth in foot length (p < 0.001) and calf width (p 0.003) declined prenatally over time. The bone lengths and upper leg circumference were not smaller or shorter in TEV compared to controls.Conclusion
This prospective cohort study demonstrated the prenatal onset of reduced calf and foot size in fetuses with TEV from 20 weeks and onwards, which persists directly after birth. To investigate whether reduction in circumference initiates TEV or is caused by TEV, further examination is needed. 相似文献20.
Kazuya Mimura Masayuki Endo Yoko Kawanishi Takeshi Kanagawa Kouji Nagata Keita Terui Makoto Fujii Masayuki Shiraishi Masaya Yamoto Miharu Ito Atsuo Itakura Hiroomi Okuyama Noriaki Usui the Japanese Congenital Diaphragmatic Hernia Study Group 《黑龙江环境通报》2023,43(8):993-1001
This systematic review and meta-analysis aimed to review the optimal timing of delivery at term for neonates with prenatally diagnosed congenital diaphragmatic hernia (CDH). We reviewed the literature up to December 19, 2022 using MEDLINE and the Cochrane Library databases. The inclusion criteria were original articles, comparative studies of CDH neonates delivered at an early term (37–38 weeks of gestation) and at full term (39 weeks of gestation or later), and comparative studies investigating outcomes of CDH neonates. Six studies met the inclusion criteria, including 985 neonates delivered at an early term and 629 delivered at full term. The cumulative rate of survival to discharge showed no significant difference between CDH neonates delivered at an early term (395/515; 76.7%) or at full term (345/467; 73.9%) (risk ratio [RR] 1.01; 95% confidence interval [CI], 0.89–1.16; p = 0.85). Furthermore, the number of neonates requiring oxygen therapy at discharge was not significantly different between CDH neonates delivered at an early term (32/370; 8.6%) and at full term (14/154; 9.1%) (RR, 0.99; 95% CI, 0.36–2.70; p = 0.99). Therefore, the optimal timing of delivery at term for neonates with CDH remains unclear. 相似文献