Manesha Putra, Odessa P Hamidi, Camille Driver, Emma E Peek, Matthew A Bolt, Diane Gumina, Shane A Reeves, John C Hobbins
{"title":"Corpus Callosum Length and Cerebellar Vermian Height in Fetal Growth Restriction.","authors":"Manesha Putra, Odessa P Hamidi, Camille Driver, Emma E Peek, Matthew A Bolt, Diane Gumina, Shane A Reeves, John C Hobbins","doi":"10.1159/000538123","DOIUrl":"10.1159/000538123","url":null,"abstract":"<p><strong>Introduction: </strong>Growth-restricted fetuses may have changes in their neuroanatomical structures that can be detected in prenatal imaging. We aim to compare corpus callosal length (CCL) and cerebellar vermian height (CVH) measurements between fetal growth restriction (FGR) and control fetuses and to correlate them with cerebral Doppler velocimetry in growth-restricted fetuses.</p><p><strong>Methods: </strong>This was a prospective cohort of FGR after 20 weeks of gestation with ultrasound measurements of CCL and CVH. Control cohort was assembled from fetuses without FGR who had growth ultrasound after 20 weeks of gestation. We compared differences of CCL or CVH between FGR and controls. We also tested for the correlations of CCL and CVH with middle cerebral artery (MCA) pulsatility index (PI) and vertebral artery (VA) PI in the FGR group. CCL and CVH measurements were adjusted by head circumference (HC).</p><p><strong>Results: </strong>CCL and CVH were obtained in 68 and 55 fetuses, respectively. CCL/HC was smaller in FGR fetuses when compared to control fetuses (difference = 0.03, 95% CI: [0.02, 0.04], p < 0.001). CVH/HC was larger in FGR fetuses compared to NG fetuses (difference = 0.1, 95% CI: [-0.01, 0.02], p = < 0.001). VA PI multiples of the median were inversely correlated with CVH/HC (rho = -0.53, p = 0.007), while CCL/HC was not correlated with VA PI. Neither CCL/HC nor CVH/HC was correlated with MCA PI.</p><p><strong>Conclusions: </strong>CCL/HC and CVH/HC measurements show differences in growth-restricted fetuses compared to a control cohort. We also found an inverse relationship between VA PI and CVH/HC. The potential use of neurosonography assessment in FGR assessment requires continued explorations.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"255-266"},"PeriodicalIF":2.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140093748","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Hakan Golbasi, Burak Bayraktar, Ceren Golbasi, Ibrahim Omeroglu, Zubeyde Emiralioglu Cakir, Sevim Tuncer Can, Osman Caglar Pehlivanoglu, Atalay Ekin
{"title":"Splenic Artery Doppler Waveforms in Gestational Diabetes and Association with Fetal Pancreas: A Prospective Case-Control Study.","authors":"Hakan Golbasi, Burak Bayraktar, Ceren Golbasi, Ibrahim Omeroglu, Zubeyde Emiralioglu Cakir, Sevim Tuncer Can, Osman Caglar Pehlivanoglu, Atalay Ekin","doi":"10.1159/000539585","DOIUrl":"10.1159/000539585","url":null,"abstract":"<p><strong>Introduction: </strong>This study evaluated fetal pancreas size and echogenicity, and splenic artery (SA) waveforms in pregnant women with gestational diabetes mellitus (GDM).</p><p><strong>Methods: </strong>This prospective case-control study was performed from October 2022 to November 2023 and included 124 pregnant women (62 with GDM and 62 controls). Pancreatic circumference, pancreatic echogenicity, umbilical artery Doppler measurements (systolic/diastolic ratio [S/D] and pulsatility index [PI]), SA Doppler measurements (S/D, PI, peak systolic velocity [PSV], time-averaged maximum velocity, and pressure gradient [PG] mean and maximum) values were compared between the GDM and control groups.</p><p><strong>Results: </strong>The mean pancreatic circumference was higher and grade 2/3 echogenicity was more common in the GDM group, while grade 1 echogenicity was more common in the control group (p < 0.001 and p < 0.001, respectively). SA S/D and PI measurements were significantly higher in the GDM group than in the control group (p < 0.001 and p = 0.001, respectively). Moreover, PGmax was significantly higher in the GDM group than in the control group (p = 0.038). Pancreatic circumference was positively correlated with SA PSV (p = 0.004). Additionally, pancreatic circumference was positively correlated with PGmean and PGmax (p = 0.010 and p = 0.016, respectively). The increase in pancreas echogenicity was positively correlated with SA S/D and PI measurements (p = 0.007 and p = 0.002, respectively). PGmax was also positively correlated with increased pancreas echogenicity (p = 0.023).</p><p><strong>Conclusion: </strong>This study showed that fetal pancreas size and echogenicity were significantly higher in pregnant women with GDM than in controls. SA Doppler waveforms were consistent with an increase in vascular resistance associated with elevations of both S/D and PI in the GDM group.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"500-509"},"PeriodicalIF":1.6,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141179162","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Cara Buskmiller, Sara Vincent, Jessian L Munoz, Magdalena Sanz Cortes, Roopali Donepudi, Divya Chilukuri, Michael A Belfort, Ahmed A Nassr
{"title":"Suture Characteristics after Exposure to Amniotic Fluid from an in vitro Model of Fetal Surgery.","authors":"Cara Buskmiller, Sara Vincent, Jessian L Munoz, Magdalena Sanz Cortes, Roopali Donepudi, Divya Chilukuri, Michael A Belfort, Ahmed A Nassr","doi":"10.1159/000539561","DOIUrl":"10.1159/000539561","url":null,"abstract":"<p><strong>Introduction: </strong>Suture tensile properties have only been tested in extrauterine environments. Amniotic fluid (AF) is a complex milieu of enzymes and inflammatory factors. This study tested the mechanical properties of sutures with a variety of inherent properties, after exposure to AF from patients with conditions prompting fetal intervention.</p><p><strong>Methods: </strong>AF was obtained from 3 patients with twin-twin transfusion syndrome (TTTS), and 3 patients with neural tube defects. Six types of 2-0 sutures were placed on 1.2 N of tension to mimic placement in vivo, and incubated in AF at 37°C (98.6°F). These included ethylene terephthalate (Ethibond), glycomer 631 (V-Loc), poliglecaprone 25 (Monocryl), poly-4-hydroxybutyrate (Monomax), polydioxanone (PDS), and polyglactin 910 (Vicryl). Failure load, stress, strain, and initial modulus were tested after 24 h of incubation and after 4 weeks, and compared with control (unincubated) sutures using t tests, Kruskal-Wallis tests, and stress-strain curves.</p><p><strong>Results: </strong>Poliglecaprone 25 and polyglactin 910 dissolve more quickly in AF compared to outside the uterus, disintegrating at 4 weeks. Ethylene terephthalate and PDS experienced little change across 4 weeks of incubation. Glycomer 631 and poly-4-hydroxybutyrate exhibited interesting behavior in AF: glycomer 631 became more deformable at 24 h but later regained toughness by 4 weeks, while poly-4-hydroxybutyrate became tougher and in some cases stronger with time in AF. As a class, braided sutures act more like rigid materials, and monofilaments act like deformable plastics.</p><p><strong>Conclusion: </strong>These findings along with other suture characteristics such as ease of handling and availability may inform fetal intervention teams as they optimize procedures in a relatively new surgical field.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"463-473"},"PeriodicalIF":1.6,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141199197","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Julia Maria Kim, Kathrin Oelmeier, Janina Braun, Kerstin Hammer, Johannes Steinhard, Helen Ann Köster, Raphael Koch, Walter Klockenbusch, Ralf Schmitz, Mareike Möllers
{"title":"Fetal Thymus Size at 19-22 Weeks of Gestation: A Possible Marker for the Prediction of Low Birth Weight?","authors":"Julia Maria Kim, Kathrin Oelmeier, Janina Braun, Kerstin Hammer, Johannes Steinhard, Helen Ann Köster, Raphael Koch, Walter Klockenbusch, Ralf Schmitz, Mareike Möllers","doi":"10.1159/000533964","DOIUrl":"10.1159/000533964","url":null,"abstract":"<p><strong>Introduction: </strong>The purpose was to compare thymus size measured during second trimester screening of fetuses who were subsequently small for gestational age at birth (weight below 10th percentile, SGA group) with fetuses with normal birth weight (control group). We hypothesized that measuring the fetal thymic-thoracic ratio (TT-ratio) might help predict low birth weight.</p><p><strong>Methods: </strong>Using three-vessel view echocardiograms from our archives, we measured the anteroposterior thymus size and the intrathoracic mediastinal diameter to derive TT-ratios in the SGA (n = 105) and control groups (n = 533) between 19+0 and 21+6 weeks of gestation. We analyzed the association between TT-ratio and SGA adjusted to the week of gestation using logistic regression. Finally, we determined the possible TT-ratio cut-off point for discrimination between SGA and control groups by means of receiver operating characteristics (ROC) curve analysis.</p><p><strong>Results: </strong>The TT-ratio was significantly higher in the SGA group than in the control group (p < 0.001). An increase of the TT-ratio by 0.1 was associated with a 3.1-fold increase in the odds of diagnosing SGA. We determined that a possible discrimination cut-off point between SGA and healthy controls was achieved using a TT-ratio of 0.390 (area under the ROC curve 0.695).</p><p><strong>Conclusion: </strong>An increased TT-ratio may represent an additional prenatal screening parameter that improves the prediction of birth weight below the 10th percentile. Prospective studies are now needed to evaluate the use of fetal thymus size as predictive parameter for adverse fetal outcome.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"7-15"},"PeriodicalIF":2.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10288309","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Eran Ashwal, Jonathan Sgro, Patrick Shannon, Karen Chong, Phyllis Glanc, David Chitayat
{"title":"Lung Hypoplasia in Fetuses with Skeletal Dysplasia Determined by Fetal Lung Weight: Which Ultrasound Measurement/Ratio Has the Highest Detection Rate.","authors":"Eran Ashwal, Jonathan Sgro, Patrick Shannon, Karen Chong, Phyllis Glanc, David Chitayat","doi":"10.1159/000534209","DOIUrl":"10.1159/000534209","url":null,"abstract":"<p><strong>Introduction: </strong>To determine lung hypoplasia in cases with fetal skeletal dysplasia based on the total lung weight at autopsy as the most accountable surrogate marker for pulmonary hypoplasia.</p><p><strong>Methods: </strong>This retrospective cohort study included all pregnancies with antenatal diagnosis of skeletal dysplasia (2012-2018). We included only cases in which information on fetal biometry was available within 2 weeks before delivery and had autopsy and skeletal X-rays + molecular analysis using extracted fetal DNA. We compared the predictive accuracy of fetal sonographic body-proportional ratios (BPRs) including: (1) thoracic circumference-to-abdominal circumference ratio, (2) the femur length-to-abdominal circumference (FL/AC) ratio, (3) head circumference-to-abdominal circumference ratio, and (4) foot length-to-femur length ratio. Lung hypoplasia was defined as total lung weight below -2 SD from the expected mean for gestational age.</p><p><strong>Results: </strong>Fifty three pregnancies with antenatal diagnosis of skeletal dysplasia underwent autopsy included. Lung hypoplasia was determined in 34 (64.1%). Median of gestational age at last sonographic assessment was 21.3 (19.9-24.9) weeks. FL/AC ratio demonstrated the highest area under the curve of 0.817 (95% CI: 0.685-0.949; p < 0.0001). FL/AC ≤0.1550 demonstrated the highest detection rate of 88.2% along with the highest negative predictive value of 75%.</p><p><strong>Conclusion: </strong>Using a novel, more practical approach to predict lung hypoplasia in skeletal dysplasia, fetal sonographic BPRs and, specifically, FL/AC ratio demonstrate a high detection rate of lung hypoplasia.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"23-29"},"PeriodicalIF":2.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41107791","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Chris Minella, Eric Jeandidier, Antoine Koch, Maria Cristina Antal, Romain Favre, Nicolas Sananes, Anne-Sophie Weingertner
{"title":"Trisomy 22: First and Second Trimester Cytogenetic Analysis and Phenotypic Presentation in a Series of Seven Cases.","authors":"Chris Minella, Eric Jeandidier, Antoine Koch, Maria Cristina Antal, Romain Favre, Nicolas Sananes, Anne-Sophie Weingertner","doi":"10.1159/000534619","DOIUrl":"10.1159/000534619","url":null,"abstract":"<p><strong>Introduction: </strong>Trisomy 22 is a chromosomal disorder rarely encountered prenatally. Even fewer live births are observed and generally correspond to confined placental mosaic trisomy 22, or even more uncommonly, to true fetal mosaic trisomy 22.</p><p><strong>Case presentation: </strong>We examine and describe a series of seven cases of trisomy 22 encountered prenatally in terms of their cytogenetic and phenotypic presentations and discuss their interrelationships along with case management and outcomes. We aimed to identify aspects of prenatal data suggestive of fetal trisomy 22 and to determine whether a prognosis can be established from these factors.</p><p><strong>Conclusion: </strong>Our conclusion is that prenatal data elements can provide key elements of information to guide multidisciplinary care and support for the couple and the neonate.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"112-124"},"PeriodicalIF":2.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71479859","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Julia Zepf, Ladina Vonzun, Ladina Rüegg, Nele Strübing, Franziska Krähenmann, Martin Meuli, Luca Mazzone, Ueli Moehrlen, Nicole Ochsenbein-Kölble
{"title":"Fetal Spina Bifida Repair in Obese Mothers: Is Maternal and Fetal Safety Compromised?","authors":"Julia Zepf, Ladina Vonzun, Ladina Rüegg, Nele Strübing, Franziska Krähenmann, Martin Meuli, Luca Mazzone, Ueli Moehrlen, Nicole Ochsenbein-Kölble","doi":"10.1159/000536071","DOIUrl":"10.1159/000536071","url":null,"abstract":"<p><strong>Introduction: </strong>The Management of Myelomeningocele Study (MOMS) eligibility criteria preclude in utero surgery for fetal spina bifida (fSB) when the maternal body mass index (BMI) is ≥35 kg/m2. Some centers still respect this criterion, while others, like ours, do not. This study aimed to assess whether maternal and fetal safety is compromised with higher maternal BMIs.</p><p><strong>Methods: </strong>Data of 192 patients with open fSB repair at our center were retrospectively analyzed. According to their BMI, patients were divided into three groups: group 1 (BMI <30 kg/m2), group 2 (BMI 30-35 kg/m2), and group 3 (BMI >35 kg/m2). Subgroup analysis was performed to assess differences in maternal and fetal outcomes. Additionally, complications were divided into grades 1 to 5 according to their severity and outcome consequences and compared among groups.</p><p><strong>Results: </strong>Out of 192 patients, 146 (76.0%) had a BMI <30 kg/m2, 28 (14.6%) had a BMI 30-35 kg/m2, and 18 (9.4%) had a BMI >35 kg/m2. Significant differences occurring more often in either group 2 or 3 compared to group 1 were maternal wound seroma (50% or 56% vs. 32%, p = 0.04), amniotic fluid leakage (14% or 6% vs. 2%, p = 0.01) as well as vaginal bleeding (11% or 35% vs. 9%, p = 0.01). On the contrary, duration of tocolysis with atosiban was shorter in patients with BMI >30 kg/m2 (4 or 5 vs. 6 days, p = 0.01). When comparing severity of maternal or fetal complications, grade 1 intervention-related complications occurred significantly more often in group 3 compared to group 1 or 2 (78% vs. 45% or 57%, p = 0.02). Gestational age at delivery was around 36 weeks in all groups without significant differences.</p><p><strong>Conclusion: </strong>This investigation did not identify clinically relevant maternal and/or fetal outcome problems related to BMIs >35 kg/m2. Additional studies are however needed to confirm our results.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"175-183"},"PeriodicalIF":2.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10994580/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139402450","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Bo B Bet, Agnes E van Steijn, Ingeborg H Linskens, Ingmar Knobbe, Elisabeth van Leeuwen, Eva Pajkrt, Sally-Ann Clur
{"title":"Increased Pulmonary-Aortic Interspace in Fetal Right Aortic Arch: A Matched Case-Control Study.","authors":"Bo B Bet, Agnes E van Steijn, Ingeborg H Linskens, Ingmar Knobbe, Elisabeth van Leeuwen, Eva Pajkrt, Sally-Ann Clur","doi":"10.1159/000536403","DOIUrl":"10.1159/000536403","url":null,"abstract":"<p><strong>Introduction: </strong>The prenatal detection rate of a right aortic arch (RAA) has increased with the implementation of the three-vessel view (3VV) to the second-trimester anomaly scan formed by the pulmonary artery (PA), aorta (Ao), and superior vena cava (SVC). We examined the value of measuring the distance between PA and Ao in the 3VV in cases with an RAA.</p><p><strong>Methods: </strong>We conducted a case-control study in which fetuses with an isolated RAA were matched to 3 healthy controls. Using 3VV images, the distances between PA, Ao, and SVC were measured and the ratio between PA to Ao (PAAo) distance and Ao to SVC (AoSVC) distance was calculated.</p><p><strong>Results: </strong>Fifty-four RAA cases and 162 matched controls were included. The mean absolute distance PAAo was 3.1 mm in cases and 1.8 mm in controls (p < 0.001), and the mean PAAo/AoSVC ratio was 2.9 and 1.4, respectively (p < 0.001). The ROC curve of PAAo/AoSVC ratio showed a cut-off point of 1.9 with sensitivity and specificity over 87% for the diagnosis of RAA.</p><p><strong>Conclusions: </strong>The pulmonary-aortic interspace and the PAAo/AoSVC ratio were significantly larger for RAA cases as compared to controls. If an increased pulmonary-aortic interspace is observed, a PAAo/AoSVC of ≥1.9 can be helpful in the diagnosis of an RAA.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"225-234"},"PeriodicalIF":2.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11151961/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139563564","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.","authors":"Leyli Senturk, Cagri Gulec, Tugba Sarac Sivrikoz, Hulya Kayserili, Ibrahim Halil Kalelioglu, Sahin Avci, Recep Has, Paul Coucke, Tugba Kalayci, Bernd Wollnik, Birsen Karaman, Guven Toksoy, Sofie Symoens, Gokhan Yigit, Atil Yuksel, Seher Basaran, Beyhan Tuysuz, Umut Altunoglu, Zehra Oya Uyguner","doi":"10.1159/000536324","DOIUrl":"10.1159/000536324","url":null,"abstract":"<p><strong>Introduction: </strong>Counseling osteogenesis imperfecta (OI) pregnancies is challenging due to the wide range of onsets and clinical severities, from perinatal lethality to milder forms detected later in life.</p><p><strong>Methods: </strong>Thirty-eight individuals from 36 families were diagnosed with OI through prenatal ultrasonography and/or postmortem clinical and radiographic findings. Genetic analysis was conducted on 26 genes associated with OI in these subjects that emerged over the past 20 years; while some genes were examined progressively, all 26 genes were examined in the group where no pathogenic variations were detected.</p><p><strong>Results: </strong>Prenatal and postnatal observations both consistently showed short limbs in 97%, followed by bowing of the long bones in 89%. Among 32 evaluated cases, all exhibited cranial hypomineralization. Fractures were found in 29 (76%) cases, with multiple bones involved in 18 of them. Genetic associations were disclosed in 27 families with 22 (81%) autosomal dominant and five (19%) autosomal recessive forms, revealing 25 variants in six genes (COL1A1, COL1A2, CREB3L1, P3H1, FKBP10, and IFITM5), including nine novels. Postmortem radiological examination showed variability in intrafamily expression of CREBL3- and P3H1-related OI.</p><p><strong>Conclusion: </strong>Prenatal diagnosis for distinguishing OI and its subtypes relies on factors such as family history, timing, ultrasound, genetics, and postmortem evaluation.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"285-299"},"PeriodicalIF":2.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139722211","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Rethinking Patient Eligibility Standards in Spina Bifida Treatment: A Call for Universality and Adaptation.","authors":"Kainat Fatima, Rayyan Nabi, Hanzala Ahmed Farooqi","doi":"10.1159/000538066","DOIUrl":"10.1159/000538066","url":null,"abstract":"","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"310-312"},"PeriodicalIF":2.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139989703","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}