K Aparna Sharma, Vatsla Dadhwal, Tanisha Gupta, Anubhuti Rana
{"title":"Role of Antenatal IVIG in Improving Fetal Outcomes in Rh Isoimmunized Pregnancies: A Single-Centre Analysis.","authors":"K Aparna Sharma, Vatsla Dadhwal, Tanisha Gupta, Anubhuti Rana","doi":"10.1159/000553637","DOIUrl":"10.1159/000553637","url":null,"abstract":"<p><strong>Introduction: </strong>Rh isoimmunization remains a major cause of haemolytic disease of the fetus and newborn, particularly when fetal anaemia develops early in gestation. Antenatal intravenous immunoglobulin (IVIG) has been proposed to improve fetal outcomes, but evidence remains limited, especially from low- and middle-income settings.</p><p><strong>Methods: </strong>This study was conducted at a tertiary care centre in India and included pregnant women with severe anti-D isoimmunization managed between 2023 and 2025. Inclusion criteria were pregnant women, with a previous pregnancy complicated by hydrops with perinatal death and/or requirement of intrauterine transfusion (IUT) before 24 weeks. They received antenatal IVIG (1 g/Kg/week from 13 to 14 weeks for 4-6 doses) and were compared with cases managed without IVIG. Outcomes analysed included presence of fetal hydrops, the requirement for IUT and the total number of IUTs, gestational age at first IUT, gestational age at delivery, and pregnancy outcome (live birth, stillbirth, or abortion) and neonatal outcomes.</p><p><strong>Results: </strong>Thirty-four pregnancies were included with17 managed with IVIG and 17 managed without IVIG based on the timing of referral. The incidence of fetal hydrops was significantly lower in the IVIG group (5.9% vs. 52.9%, p = 0.008), and preterm delivery occurred less frequently (70.5% vs. 100%, p = 0.04). The need for IUT, gestational age at first IUT, number of IUTs, gestational age at delivery, and birth weight were comparable between groups. Live birth rate and survival at discharge were higher in the IVIG group, though differences did not reach statistical significance. Infusion-related reactions occurred in 17.6% of IVIG-treated patients and were mild.</p><p><strong>Conclusion: </strong>Antenatal IVIG was associated with reduced fetal hydrops and preterm delivery in severe Rh isoimmunized pregnancies. However, these findings should be interpreted with caution as improved outcomes may also reflect earlier referral, surveillance, and intervention.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-7"},"PeriodicalIF":1.7,"publicationDate":"2026-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148548235","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":"Fetoscopic Laser Surgery for Complicated Monochorionic Twin Pregnancies in Mothers Living with HIV: Case Series.","authors":"Savino Gil-Pugliese, Gabriela Cecilia Taborda, María Agustina Nobile-Recalde, Alicia Mazer-Zumaeta, Marcelo Vega-Sayago, Marcela de Breuil, Rocío Melisa Ferreyra, Oswaldo Gonzales-Carrillo, Enrique Gil-Guevara","doi":"10.1159/000553590","DOIUrl":"10.1159/000553590","url":null,"abstract":"<p><strong>Introduction: </strong>Evidence on fetal surgery in mothers living with HIV is limited. All intrauterine invasive procedures carry a risk of fetal exposure to maternal blood, and therefore, a theoretical risk of vertical transmission must be considered. Currently, there is no published data on fetoscopic procedures in mothers living with HIV.</p><p><strong>Case presentation: </strong>We present a multicenter case series of three monochorionic diamniotic twin pregnancies in mothers living with HIV, all complicated by twin-to-twin transfusion syndrome and treated with fetoscopic laser surgery. The procedures were performed between 18.4 and 23.0 weeks of gestation, and all patients were receiving effective combination antiretroviral therapy. At the time of fetal surgery, maternal viral load was 52 copies/mL in two cases and <50 copies/mL in the remaining case. Prophylactic intraoperative zidovudine was administered in one of the two cases with a viral load of 52 copies/mL. At the time of delivery, none of the patients received intrapartum zidovudine prophylaxis, as viral loads were <50 copies/mL in all cases. Deliveries occurred between 29.0 and 37.6 weeks of gestation, including both cesarean and vaginal deliveries. Neonatal antiretroviral prophylaxis was administered in all cases, and postnatal follow-up revealed no evidence of vertical transmission.</p><p><strong>Conclusion: </strong>Fetoscopic laser surgery for complicated monochorionic twin pregnancies in mothers living with HIV receiving effective antiretroviral therapy and having undetectable or low viral loads appears to be safe. The theoretical risk of vertical transmission in such cases is likely negligible and should not be considered a contraindication to the procedure under optimal conditions.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-7"},"PeriodicalIF":1.7,"publicationDate":"2026-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148445236","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}
Mariam Taleb, Jena L Miller, Meredith A Atkinson, Ahmet A Baschat, Mara Rosner, Yair J Blumenfeld, Julie S Moldenhauer, Juliana S Gebb, Anthony Johnson, Mauro H Schenone, Michael V Zaretsky, Ramen H Chmait, Juan M Gonzalez, Russell S Miller, Angie C Jelin, Jonathan M Davis, Daniel S Warren, Daniel F Hanley, Anita J Moon-Grady
{"title":"Fetal Echocardiography and Hyperoxia Testing after Serial Amnioinfusions: Results from the RAFT Trial Bilateral Renal Agenesis Arm.","authors":"Mariam Taleb, Jena L Miller, Meredith A Atkinson, Ahmet A Baschat, Mara Rosner, Yair J Blumenfeld, Julie S Moldenhauer, Juliana S Gebb, Anthony Johnson, Mauro H Schenone, Michael V Zaretsky, Ramen H Chmait, Juan M Gonzalez, Russell S Miller, Angie C Jelin, Jonathan M Davis, Daniel S Warren, Daniel F Hanley, Anita J Moon-Grady","doi":"10.1159/000553472","DOIUrl":"10.1159/000553472","url":null,"abstract":"<p><strong>Introduction: </strong>Pulmonary hypoplasia and severe pulmonary hypertension associated with severe oligo/anhydramnios may be mitigated by amnioinfusion in fetal bilateral renal agenesis (BRA). We report fetal cardiovascular testing in live-born BRA subjects of the Renal Anhydramnios Fetal Therapy (RAFT) trial.</p><p><strong>Methods: </strong>Fetuses in the BRA RAFT trial cohort underwent third trimester echocardiography with maternal hyperoxia (MH). Echocardiographic parameters, compared between baseline and MH, are presented for expectant management and amnioinfusion participants using descriptive and inferential statistics.</p><p><strong>Results: </strong>Of 20 BRA pregnancies, 17 had amnioinfusions and 3 expectant management; 13 had fetal echocardiograms. Middle cerebral artery pulsatility index (PI) increased with MH (1.82 vs. 2.12, p = 0.032), as did umbilical artery PI (0.89 vs. 1.02, p = 0.056), without change in cardiac output or right ventricular percentage of the output, as expected. Fetuses in the intervention arm showed significant decrease in pulmonary artery PI compared to no decrease or an increase in the control arm. All fetuses with clear reactivity had favorable respiratory status at 30 days of life. Minimal reactivity (<10%) was not predictive of poor outcome. Pulmonary artery branch dimensions were significantly larger in the treated fetuses.</p><p><strong>Conclusion: </strong>Fetal echocardiography with MH provides antenatal evidence of rescued pulmonary phenotype in BRA fetuses undergoing serial percutaneous amnioinfusions.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-11"},"PeriodicalIF":1.7,"publicationDate":"2026-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13479309/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148435797","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}
Giovanni Savarese, Maurizio Guida, Monica Ianniello, Raffaella Ruggiero, Alessandro Ottaiano, Simone Marcella, Roberto Sirica, Nadia Petrillo, Antonio Fico, Giorgia Bartolini, Laura Sarno, Gabriele Saccone
{"title":"Noninvasive Cell-Free DNA-Based Approach for the Diagnosis of Aneuploidies in Spontaneous Abortion.","authors":"Giovanni Savarese, Maurizio Guida, Monica Ianniello, Raffaella Ruggiero, Alessandro Ottaiano, Simone Marcella, Roberto Sirica, Nadia Petrillo, Antonio Fico, Giorgia Bartolini, Laura Sarno, Gabriele Saccone","doi":"10.1159/000551626","DOIUrl":"10.1159/000551626","url":null,"abstract":"<p><strong>Introduction: </strong>Spontaneous abortion is the most common complication in early pregnancy, with chromosomal abnormalities accounting for up to 50% of first-trimester losses. Conventional genetic analyses often rely on invasive procedures that may be limited by technical challenges and patient reluctance. This study aimed to evaluate the feasibility and diagnostic performance of cell-free DNA (cfDNA)-based testing as a noninvasive approach for detecting chromosomal abnormalities in first-trimester spontaneous abortion.</p><p><strong>Methods: </strong>This retrospective observational study included pregnant individuals diagnosed with spontaneous abortion between 7 + 0 and 14 + 6 weeks of gestation from 2022 to 2025. cfDNA was extracted from maternal plasma and analyzed using the VeriSeq™ NIPT Solution v2 (Illumina). A subset of participants who underwent dilation and curettage (D&C) also had fetal tissue analyzed via chromosomal microarray analysis (CMA), which served as the reference standard. Primary outcomes included the rate of non-informative results (NIR), fetal fraction (FF) ≥4%, and detection rate of chromosomal abnormalities. Sensitivity, specificity, and predictive values of cfDNA were calculated relative to CMA.</p><p><strong>Results: </strong>A total of 299 participants underwent cfDNA testing, of whom 28 also had fetal tissue CMA. The mean FF was 5.83%, with 231/299 (77.3%) samples having FF ≥4%. NIR occurred in 6 cases (2.0%), while 62 (20.7%) had FF <4%. Among cfDNA results with FF ≥4%, 130/231 (56.3%) showed chromosomal abnormalities, with trisomy 16 being the most common. In the D&C subgroup, cfDNA and CMA results were fully concordant (sensitivity and specificity: 100%). FF was positively correlated with gestational age (r = 0.42, p < 0.001).</p><p><strong>Conclusions: </strong>cfDNA-based testing represents a feasible and accurate noninvasive method for detecting chromosomal abnormalities following first-trimester pregnancy loss. It may offer an effective alternative to invasive genetic testing, particularly when tissue sampling is unavailable or declined. However, the retrospective design and the lack of detailed maternal clinical characteristics, including body mass index and other factors potentially influencing FF, represent important limitations that should be considered when interpreting these findings.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-6"},"PeriodicalIF":1.7,"publicationDate":"2026-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148420173","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}
Laia Grau, Míriam Pérez-Cruz, Mar Bennassar, Olga Gómez, Elisenda Eixarch, Narcís Masoller, Montserrat Izquierdo Renau, Eduard Gratacós, Josep M Martínez, Joan Sabrià
{"title":"Clinical Outcome and Safety of Amnioreduction in Singleton Pregnancies with Severe Polyhydramnios.","authors":"Laia Grau, Míriam Pérez-Cruz, Mar Bennassar, Olga Gómez, Elisenda Eixarch, Narcís Masoller, Montserrat Izquierdo Renau, Eduard Gratacós, Josep M Martínez, Joan Sabrià","doi":"10.1159/000552923","DOIUrl":"10.1159/000552923","url":null,"abstract":"<p><strong>Introduction: </strong>Severe polyhydramnios is associated with fetal anomalies and adverse perinatal outcomes. The safety of amnioreduction in singleton pregnancies remains unclear. We aimed to evaluate pregnancy outcomes and procedure-related complications of amnioreduction in singleton pregnancies with severe polyhydramnios, excluding other invasive procedures apart from diagnostic amniocentesis.</p><p><strong>Methods: </strong>Retrospective analysis of amnioreduction procedures performed in 40 singleton pregnancies at a fetal therapy referral center (2013-2024). Inclusion criteria were severe polyhydramnios (defined by an Amniotic Fluid Index ≥35 cm) associated with maternal intolerance and/or short cervix evaluated by ultrasound (with a cut-off <15 mm). Procedure-related complications occurring within 48 h, including premature rupture of membranes, placental abruption, chorioamnionitis, preterm delivery below 37 weeks, and fetal demise were recorded. Maternal and pregnancy data, technical procedural characteristics, and perinatal outcomes were compared between complicated and uncomplicated procedures.</p><p><strong>Results: </strong>In 90% of the cases, a recognizable etiology for polyhydramnios was identified, with fetal structural anomalies being the most frequent cause, accounting for 62.5% of cases. Overall complication rate was 8.8%, including 3 placental abruptions and 2 cases of premature rupture of membranes. Complicated procedures were associated with earlier delivery (31.9 ± 3.7 vs. 36.8 ± 1.9 weeks, p = 0.016) and shorter procedure-to-delivery interval (8.6 ± 14.7 vs. 33.4 ± 16.4 days, p = 0.003). Repeated amnioreductions did not increase complication rates. No significant association was observed between pregnancy- or amniodrainage-related variables - including the number of amnioreduction sessions - and the occurrence of complications.</p><p><strong>Conclusion: </strong>These findings support that amnioreduction performed by highly trained personnel following a standardized protocol is a safe intervention in singleton pregnancies complicated by severe polyhydramnios. These data may provide valuable guidance in prenatal counseling for cases in which prolonging gestation is crucial due to fetal structural anomalies.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-8"},"PeriodicalIF":1.7,"publicationDate":"2026-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13493088/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148420151","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}
Saulo Molina-Giraldo, Jorge Cantor-Guarnizo, Isabela Sánchez-Mayorca, Juliana Salazar-Sierra, Felipe Rojas-Borda, Natalia Gutierrez-Olaya, Cristian Leonardo Vargas, Rafael García-Gutierrez, Martha Pinto-Quiñonez, Rafael Leonardo Aragón
{"title":"Fetus Establish Tracheal Access for Lifeguard as a Complementary Maneuver for Tracheal Deviation Secondary to Complications of Pulmonary Sequestration: Case Report and Technical Description.","authors":"Saulo Molina-Giraldo, Jorge Cantor-Guarnizo, Isabela Sánchez-Mayorca, Juliana Salazar-Sierra, Felipe Rojas-Borda, Natalia Gutierrez-Olaya, Cristian Leonardo Vargas, Rafael García-Gutierrez, Martha Pinto-Quiñonez, Rafael Leonardo Aragón","doi":"10.1159/000553316","DOIUrl":"10.1159/000553316","url":null,"abstract":"<p><strong>Introduction: </strong>Bronchopulmonary sequestration (BPS) is a congenital pulmonary malformation that, in severe cases, can lead to fetal hemodynamic compromise, hydrothorax, mediastinal shift, and an increased risk of neonatal airway obstruction. Objective ultrasound-based parameters such as the congenital pulmonary airway malformation volume ratio (CVR), mediastinal shift, and the tracheoesophageal displacement index (TEDI) have been proposed as key predictors of perinatal complications. The ex utero intrapartum treatment (EXIT) procedure enables secure airway management in neonates at risk of severe obstruction.</p><p><strong>Case presentation: </strong>We report the case of a 27-year-old pregnant patient at 29 weeks of gestation diagnosed with left extra-lobar BPS, with a CVR of 1.7, associated hydrothorax, and mediastinal shift. The fetus underwent laser ablation of the feeding vessel and thoracoamniotic shunting, with improvement in ultrasound parameters. At 36 weeks, persistent residual hydrothorax and a TEDI of 16 were documented, prompting a planned EXIT procedure. An endoscopic-guided intubation technique, termed Fetus Establish Tracheal Access for Lifeguard (FETAL), was developed and successfully employed for airway access. The neonate underwent definitive postnatal surgical resection with favorable postoperative recovery.</p><p><strong>Conclusion: </strong>A structured strategy allowed timely intervention at each stage of fetal management, optimizing the perinatal outcome. The FETAL technique represents a safe and effective alternative for fetal airway management during EXIT in selected cases at high risk of tracheal obstruction.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-9"},"PeriodicalIF":1.7,"publicationDate":"2026-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148411065","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}
Jimmy Espinoza, Magdalena Litwińska, Ramesha Papanna, Anthony Johnson, Sami Backley, Felicia Venable Lemoine, Sen Zhu, Dejian Lai, Randy Sam Mohtar, Arlyn S Llanes, Ramen H Chmait
{"title":"The Solomon Technique and Extreme Preterm Birth after Laser Surgery for Twin-Twin Transfusion Syndrome.","authors":"Jimmy Espinoza, Magdalena Litwińska, Ramesha Papanna, Anthony Johnson, Sami Backley, Felicia Venable Lemoine, Sen Zhu, Dejian Lai, Randy Sam Mohtar, Arlyn S Llanes, Ramen H Chmait","doi":"10.1159/000553250","DOIUrl":"10.1159/000553250","url":null,"abstract":"<p><strong>Introduction: </strong>We compare adverse pregnancy outcomes after the Solomon technique versus selective laser surgery for twin-twin transfusion syndrome (TTTS).</p><p><strong>Methods: </strong>A retrospective cohort study of monochorionic-diamniotic twin pregnancies that underwent laser surgery for TTTS at two centers between 2006 and 2024. Pregnancy outcomes were compared between patients treated with the Solomon versus the selective laser technique. The primary outcomes were delivery <4 weeks after surgery and delivery <28 weeks. Secondary outcomes included placental abruption and recurrent TTTS or twin anemia polycythemia sequence requiring additional surgery. Multivariable robust Poisson regression models were used to estimate relative risks (RRs) for outcomes adjusted for TTTS stage, selective fetal growth restriction, and cervical length, among other covariables. Solomonization' s effect on surgery-to-delivery interval was evaluated via Cox regression. p < 0.05 was used.</p><p><strong>Results: </strong>Of 1,680 TTTS cases, 80 were excluded due to dual fetal death (n = 47) or missing laser technique or delivery data (n = 33). In the remaining 1,600 cases, 44.9% (n = 719) underwent the Solomon technique. Multivariable robust Poisson regression showed that Solomonization was independently associated with delivery <4 weeks after surgery (RR: 2.46; 95% CI: 1.31-4.60; p = 0.005), delivery <28 weeks (RR: 1.67; 95% CI: 1.15-2.51; p = 0.008), and placental abruption (RR: 1.74; 95% CI: 1.02-2.97; p = 0.04). Cox regression demonstrated a shorter surgery-to-delivery interval with the Solomon technique (hazard ratio: 1.66; 95% CI: 1.49-1.84; p < 0.001). The Solomon group had higher laser time, energy consumption, and PPROM rates, earlier gestational age at delivery, and lower 30-day survival rate of at least one twin. Recurrent TTTS or post-laser twin anemia polycythemia sequence requiring additional surgery were similar between groups.</p><p><strong>Conclusion: </strong>The Solomon technique is associated with increased risks, including extreme preterm delivery, shorter surgery-to-delivery interval, and placental abruption.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-10"},"PeriodicalIF":1.7,"publicationDate":"2026-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148360199","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}
Xiang-Yi Jing, Qi Tian, Jia-Chun Guo, Si-Yun Li, Fan Jiang, Dong-Zhi Li, Li Zhen
{"title":"Prenatal and Molecular Characteristics of 23 Cases with Silver-Russell Syndrome.","authors":"Xiang-Yi Jing, Qi Tian, Jia-Chun Guo, Si-Yun Li, Fan Jiang, Dong-Zhi Li, Li Zhen","doi":"10.1159/000553333","DOIUrl":"10.1159/000553333","url":null,"abstract":"<p><strong>Introduction: </strong>To date, only case reports regarding prenatal diagnosis of Silver-Russell syndrome (SRS) have been documented in the literature. In this study, we aimed to elucidate the prenatal characteristics associated with SRS along with their molecular aspects.</p><p><strong>Methods: </strong>This was a retrospective study of 23 cases with SRS. All cases received either prenatal or postnatal diagnoses of SRS with molecular confirmation harboring disease-causing defects in the mechanisms known to be associated with SRS. The medical records of patients were meticulously collected and reviewed.</p><p><strong>Results: </strong>Of the 12 prenatally diagnosed cases, seven were identified due to intrauterine growth restriction (IUGR), two were detected following positive non-invasive prenatal testing results indicating trisomy 7, and three diagnoses were prompted by advanced maternal age. Of the 11 postnatally diagnosed cases, all exhibited IUGR in utero. Among all 18 cases presenting with IUGR, four were classified as early-onset IUGR, while the remaining 14 were diagnosed in the third trimester. Maternal uniparental disomy 7 accounted for the molecular defect in SRS in fifteen instances, followed by loss of imprinting center 1 methylation at 11p15 in five instances and maternal duplication of chromosome region 11p15.5 in another three instances.</p><p><strong>Conclusion: </strong>Our findings highlight the significance of IUGR as a prenatal marker for SRS. Targeted molecular testing for SRS, including methylation-specific assays at key imprinted loci, should be integrated into the standard genetic evaluation of fetuses with unexplained IUGR.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-7"},"PeriodicalIF":1.7,"publicationDate":"2026-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148351408","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}
Leticia Benítez, Romain Corroenne, Jessian Louis Munoz, Ahmed A Nassr, Roopali Donepudi, Michael A Belfort, Magdalena Sanz-Cortes
{"title":"Consequences of Selective Fetal Growth Restriction in Perinatal Outcomes after Fetoscopic Laser Photocoagulation for Twin-to-Twin Transfusion Syndrome, Based on Single or Dual Survival.","authors":"Leticia Benítez, Romain Corroenne, Jessian Louis Munoz, Ahmed A Nassr, Roopali Donepudi, Michael A Belfort, Magdalena Sanz-Cortes","doi":"10.1159/000553016","DOIUrl":"10.1159/000553016","url":null,"abstract":"<p><strong>Introduction: </strong>Approximately half of twin-to-twin transfusion syndrome (TTTS) cases are complicated by selective fetal growth restriction (sFGR). Although fetoscopic laser photocoagulation (FLP) is the standard treatment, perinatal outcomes in cases with concomitant sFGR - particularly according to single or dual fetal survival after laser - are not well established. The objective of this study was to compare post-FLP obstetrical and neonatal outcomes between TTTS+sFGR and isolated TTTS, with separate analyses in pregnancies with immediate single or dual fetal survival.</p><p><strong>Methods: </strong>This was a retrospective cohort study including all TTTS cases treated with FLP at a single institution between November 2011 and April 2023. TTTS was diagnosed according to Quintero criteria. sFGR was defined as an estimated fetal weight <10th percentile in one twin with an inter-twin weight discordance ≥25% at the time of FLP. Outcomes included immediate post-FLP fetal demise (within 48 h after FLP), preterm premature rupture of membranes (PPROM), gestational age (GA) at delivery, and neonatal survival at birth and at 30 days, analyzed according to post-FLP single or dual fetal survival.</p><p><strong>Results: </strong>Among 424 cases, 188 (44.3%) had TTTS + sFGR. GA and cervical length at FLP were similar between groups, but TTTS+sFGR cases showed more severe disease, with a higher proportion of Quintero stage III. Dual fetal survival after FLP was lower in TTTS+sFGR compared with isolated TTTS (iTTTS; 79.6% vs. 88.5%). In pregnancies with single fetal survival post-FLP, TTTS+sFGR was associated with higher rates of delivery before 32 weeks (p = 0.03) and increased post-FLP PPROM (p = 0.03). Ex-donor fetuses in this group had significantly lower survival at birth and at 30 days compared with iTTTS. Even in cases with dual survival post-FLP, ex-donor survival at birth and at 30 days remained lower in TTTS + sFGR, while no other perinatal outcomes differed.</p><p><strong>Conclusion: </strong>When stratified by immediate single or dual post-FLP survival, pregnancies with TTTS complicated by sFGR showed consistently worse obstetrical and neonatal outcomes compared with isolated TTTS, particularly due to reduced ex-donor survival across both groups. Further studies are needed to elucidate the mechanisms underlying these findings.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-9"},"PeriodicalIF":1.7,"publicationDate":"2026-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148327842","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}