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15 pages, 1700 KB  
Article
Is the Placenta an Immune Battlefield in Oocyte Donation? Histological Evidence of Graft-Versus-Host-like Phenomena in Triplet Pregnancies and the Development of PARS (Placental Allograft Rejection-like Score)
by Eva Manuela Pena-Burgos, Jose Juan Pozo-Kreilinger, Rita María Regojo-Zapata and María De La Calle
Biomedicines 2026, 14(5), 965; https://doi.org/10.3390/biomedicines14050965 - 23 Apr 2026
Viewed by 473
Abstract
Background/Objectives: Oocyte donation (OD) pregnancies involve complete maternal–fetal genetic disparity and are associated with increased placental dysfunction and adverse perinatal outcomes. However, a unified histopathological framework to characterize alloimmune-mediated placental injury in OD gestations is lacking. This study evaluates immune and vascular [...] Read more.
Background/Objectives: Oocyte donation (OD) pregnancies involve complete maternal–fetal genetic disparity and are associated with increased placental dysfunction and adverse perinatal outcomes. However, a unified histopathological framework to characterize alloimmune-mediated placental injury in OD gestations is lacking. This study evaluates immune and vascular alterations in OD triplet placentas and proposes a structured scoring system, the Placental Allograft Rejection-like Score (PARS), to quantify immunovascular dysregulation. Methods: This retrospective study included all OD triplet pregnancies with placental examination performed during 24 years at a tertiary referral center. Maternal, obstetric, fetal, neonatal, and pathological variables were analyzed at the pregnancy level. Histological and immunohistochemical features previously shown to differ between OD and non-OD pregnancies were grouped into six domains: innate immunity, adaptive immunity, checkpoint regulation, vascular remodeling, complement activation, and trophoblastic behavior. Binary thresholds, immunoreactive scores or established morphological cut-offs, were applied to construct a 20-point score classified into three grades. Results: Forty-five OD triplet pregnancies were analyzed. Intra-pregnancy concordance for PARS components was high, with intraclass correlation coefficient ≥0.70 in 87.3% pregnancies. Increasing PARS grades demonstrated a clear clinical gradient. Grade 3 pregnancies had significantly lower birthweight, higher rates of prematurity (<34 weeks), and increased fetal growth restriction. Placental weight decreased progressively with higher PARS. Histologically, grade 3 placentas showed significantly increased accelerated villous maturation and intervillous fibrin deposition. Conclusions: PARS integrates immune and vascular placental lesions into a structured and reproducible framework that correlates with clinically relevant perinatal outcomes and may support future clinical risk stratification, although further validation in larger, multicenter prospective cohorts is required. Full article
(This article belongs to the Section Immunology and Immunotherapy)
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16 pages, 1109 KB  
Article
Lacosamide Safety During Pregnancy and Breastfeeding: A Single-Centre Experience and Comprehensive Narrative Review
by Kamila Saramak, Manuela Kaml, Marina Peball, Luisa Delazer, Gerald Walser, Anna Hussl, Iris Unterberger and Alexandra Astner-Rohracher
Pharmacy 2026, 14(2), 58; https://doi.org/10.3390/pharmacy14020058 - 1 Apr 2026
Viewed by 1374
Abstract
(1) Background: The management of epilepsy during pregnancy requires balancing effective seizure control against potential teratogenic effects of antiseizure medications (ASMs). Data on the safety of lacosamide (LCM), a third-generation ASM, during pregnancy and breastfeeding are limited. (2) Methods: To evaluate the safety [...] Read more.
(1) Background: The management of epilepsy during pregnancy requires balancing effective seizure control against potential teratogenic effects of antiseizure medications (ASMs). Data on the safety of lacosamide (LCM), a third-generation ASM, during pregnancy and breastfeeding are limited. (2) Methods: To evaluate the safety and efficacy of LCM during pregnancy and breastfeeding, we report a single-centre case series and provide a comprehensive narrative review of the literature. (3) Results: In total, 22 cases of maternal exposure to LCM throughout pregnancy (1 monotherapy, 21 polytherapy) were identified, resulting in 21 live births (95.5%). Congenital malformations (atrial septal defect) were observed in one offspring exposed to LCM and levetiracetam (4.8%). Twelve newborns were breastfed (57.1%) without neurodevelopmental delay after twelve months. The literature search identified 16 studies, overall reporting data on 627 pregnancies with LCM (236 monotherapy, 391 polytherapy). Among 632 available pregnancy outcomes (3 twin pregnancies and 1 triplet in the polytherapy group) the proportion of live births was 81.3% (514/632). Major congenital malformations were reported in 2.5% (6/236) with LCM monotherapy and 11.9% (47/396) with polytherapy. (4) Conclusions: According to the literature, no major safety concerns, especially in LCM monotherapy, and no specific malformations associated with LCM exposure were identified. Conclusions are limited by the heterogeneity of studies and the small number of monotherapy-exposed cases. Larger, prospective studies with longer follow-up are required. Full article
(This article belongs to the Special Issue Pharmacy Practice for Women’s/Reproductive Health)
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21 pages, 3335 KB  
Systematic Review
Risks of Miscarriage or Preterm Delivery in Dichorionic Triamniotic Triplets with Multifetal Embryo Reduction to Singleton Pregnancy Versus Expectant Management: A Systematic Review
by Christos Anthoulakis, Eirini Iordanidou, Theodoros Theodoridis and Grigoris Grimbizis
Reprod. Med. 2026, 7(1), 11; https://doi.org/10.3390/reprodmed7010011 - 4 Mar 2026
Viewed by 1679
Abstract
Background/Objectives: Dichorionic triamniotic (DCTA) triplet pregnancies are associated with increased rates of placenta-specific complications primarily attributed to vascular anastomoses in the monochorionic (MC) pair. Selective fetal reduction to twins (of one of the MC pair) is a complex and not a widely [...] Read more.
Background/Objectives: Dichorionic triamniotic (DCTA) triplet pregnancies are associated with increased rates of placenta-specific complications primarily attributed to vascular anastomoses in the monochorionic (MC) pair. Selective fetal reduction to twins (of one of the MC pair) is a complex and not a widely available procedure. Multifetal reduction (MFR) to singleton pregnancy can reduce adverse pregnancy outcomes but is controversial due to medico-legal and socio-ethical issues. The aim of this study is to identify the rate of miscarriage < 24 weeks or preterm birth < 34 weeks following MFR to singleton pregnancy in DCTA triplets and compare the results with expectant management. Methods: This systematic review was conducted according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines and registered in the Prospective Register of Systematic Reviews System (ID: CRD42023422585). Results: Overall, from 21 citations of relevance, 6 studies with a total of 548 DCTA triplet pregnancies fulfilled the inclusion/exclusion criteria. In comparison with expectant management (n = 336), meta-analysis demonstrated that MFR to singleton pregnancy (n = 212) was associated with a lower rate (9.4% vs. 48.5%) of preterm birth (RR = 0.19, 95%CI 0.07–0.51), whereas the rate of miscarriage (14.6% vs. 9.2%) did not significantly increase (RR = 1.53, 95%CI 0.91–2.55). Conclusions: In DCTA triplet pregnancies, MFR to singleton pregnancy was associated with a reduced preterm birth rate and not associated with an increased miscarriage rate. Given the fact that the MC pair is reduced only to lower the rate of preterm birth, appropriate counselling and justification are important. In the absence of randomized controlled trials, data from systematic reviews are the best available evidence for counseling on the different management options. Full article
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18 pages, 4623 KB  
Article
Preimplantation Genetic Testing of Spinocerebellar Ataxia Type 2—Robust Tools for Direct and Indirect Detection of the ATXN2 CAG Repeat Expansion
by Nur Asherah, Mulias Lian, Arnold S. Tan, Riho Taguchi, Pengyian Chua, Shuling Liu, Caroline G. Lee and Samuel S. Chong
Int. J. Mol. Sci. 2026, 27(3), 1546; https://doi.org/10.3390/ijms27031546 - 4 Feb 2026
Viewed by 891
Abstract
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disorder caused by a pathogenic CAG trinucleotide repeat expansion in the ATXN2 gene. At-risk couples can embark on unaffected pregnancies through preimplantation genetic testing of monogenic disorders (PGT-M) of SCA2, which should involve [...] Read more.
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disorder caused by a pathogenic CAG trinucleotide repeat expansion in the ATXN2 gene. At-risk couples can embark on unaffected pregnancies through preimplantation genetic testing of monogenic disorders (PGT-M) of SCA2, which should involve accurate repeat expansion detection together with risk haplotype tracking using informative linked markers. Two couples underwent SCA2 PGT-M involving analysis of whole genome amplified embryonic trophectoderm cells by ATXN2 (CAG)n triplet-primed PCR (TP-PCR) and linkage-based risk allele genotyping using customized markers. To simplify and expedite the identification of informative markers for future PGT-M cases, putative microsatellite markers closely linked to ATXN2 were initially screened for polymorphism using a small set of anonymous DNA samples obtained from Coriell Cell Repository. Shortlisted markers with high polymorphism likelihood were then multiplexed in a single-tube reaction and genotyped on 190 anonymous DNA samples to determine their polymorphic information content. Across both SCA2 PGT-M clinical cases, the linked marker genotypes corroborated the TP-PCR results, allowing clear differentiation between unaffected and affected embryos. In both cases, transfer of an unaffected embryo led to a successful pregnancy and live birth of a healthy baby. In silico mining, filtering, and curation identified 287 microsatellites located within 1.65 Mb of either side of the ATXN2 CAG repeat. Of these, eight upstream and nine downstream polymorphic markers were successfully co-amplified in a single-tube assay and demonstrated high overall heterozygosity in both Chinese and Caucasian populations. Conclusion: To ensure high diagnostic accuracy for PGT-M of SCA2, we developed a heptadecaplex microsatellite marker panel for haplotype-based linkage analysis to complement TP-PCR-based direct detection of the ATXN2 CAG repeat. The panel can rapidly identify informative markers from virtually any couple, and it works equally well on MDA-amplified DNAs for embryonic haplotype analysis. Full article
(This article belongs to the Special Issue Preimplantation Genetic Testing in Assisted Reproductive Technologies)
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16 pages, 2314 KB  
Article
Placental Pathological Findings and Clinical Outcomes in Triplet Pregnancies Conceived via Oocyte Donation and Non-Oocyte Donation: A Case–Control Study
by Eva Manuela Pena-Burgos, Maria De la Calle, Jose Juan Pozo-Kreilinger, Cecilia García-Díaz and Rita María Regojo-Zapata
Diagnostics 2025, 15(21), 2681; https://doi.org/10.3390/diagnostics15212681 - 23 Oct 2025
Cited by 1 | Viewed by 858
Abstract
Objective: This study aimed to assess whether oocyte donation in triplet pregnancies is associated with increased risk of placental abnormalities and pregnancy complications compared to triplet pregnancies conceived through assisted reproductive technology (ART) without oocyte donation. Methods: This single-center, retrospective, case–control [...] Read more.
Objective: This study aimed to assess whether oocyte donation in triplet pregnancies is associated with increased risk of placental abnormalities and pregnancy complications compared to triplet pregnancies conceived through assisted reproductive technology (ART) without oocyte donation. Methods: This single-center, retrospective, case–control study analyzed triplet pregnancies conceived via ART. The case group included pregnancies resulting from oocyte donation, while the control group comprised triplet pregnancies conceived by ART without oocyte donation. Maternal, obstetric, fetal, and neonatal outcomes were assessed. Gross and histopathological placental findings were evaluated using standardized criteria. Univariate and multivariate statistical analyses were performed. Results: A total of 77 triplet pregnancies (231 fetuses) were included: 29 in the oocyte donation group (87 fetuses) and 48 in the non-oocyte donation group (144 fetuses). Multivariate analysis revealed significantly higher rates of pregnancy-induced hypertension (p = 0.03), preeclampsia (p = 0.03), fetal growth restriction (p = 0.04), and fetal death (p = 0.01) in the oocyte donation group. Placental evaluation showed a higher frequency of infarcts (p = 0.04) and chronic inflammatory lesions—chronic villitis (p = 0.02) and chronic deciduitis (p = 0.03)—as well as signs of fetal vascular malperfusion, including avascular villi (p = 0.02) and stromal–vascular karyorrhexis (p = 0.01). Intervillous fibrin deposition was also more common in this group (p = 0.02). Conclusions: Oocyte donation in triplet pregnancies is associated with increased rates of placental abnormalities and adverse maternal and fetal outcomes when compared with ART without oocyte donation. Placental examination may provide valuable insights into the mechanisms involved. Further research is warranted to clarify the underlying immunological and vascular pathways. Synopsis: In our cohort of 77 triplet pregnancies, those conceived via oocyte donation showed significantly higher rates of preeclampsia, fetal growth restriction, and fetal death. Placental examination revealed more chronic villitis, deciduitis, intervillous fibrin, avascular villi, and stromal–vascular karyorrhexis, suggesting immune and vascular dysfunction in oocyte donation pregnancies. Full article
(This article belongs to the Special Issue Hot Topics in Modern and Personalized Pathology)
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13 pages, 515 KB  
Article
Prediction of Adverse Pregnancy Outcomes Based on Maternal and Pregnancy Characteristics in Triplet Pregnancies
by Gülen Yerlikaya-Schatten, Jasmin Ernst, Florian Heinzl, Sophie Pils and Stephanie Springer
Diagnostics 2025, 15(20), 2576; https://doi.org/10.3390/diagnostics15202576 - 13 Oct 2025
Cited by 1 | Viewed by 1537
Abstract
Objective: Multifetal gestations are linked to an increased risk of pregnancy-related hypertensive disorders and other adverse outcomes. The probability positively correlates with the number of fetuses. Therefore, the objective of the study was to assess the use of various maternal and pregnancy-related [...] Read more.
Objective: Multifetal gestations are linked to an increased risk of pregnancy-related hypertensive disorders and other adverse outcomes. The probability positively correlates with the number of fetuses. Therefore, the objective of the study was to assess the use of various maternal and pregnancy-related characteristics for the prediction of adverse pregnancy outcomes in triplet pregnancies, dependent on different possible predictive factors such as maternal age, BMI, assisted reproductive technology (ART), parity, uterine artery Doppler (UtA-PI) measured and chorionicity. Methods: This was a screening study in 99 triplet pregnancies to evaluate the risk for adverse pregnancy outcomes for PE, hypertension, fetal growth restriction (FGR), intrauterine fetal death (IUFD), small for gestational age (SGA) and preterm birth below 32 + 0 gestational weeks, dependent on different possible predictive factors. Logistic regression analysis was performed. Results: 99 triplet pregnancies were included. Additionally, 58 women (58.6%) developed adverse pregnancy outcomes: FGR 16.2%, SGA (3.0%). Gestational hypertension was observed in 16 pregnancies (16.2%), and preeclampsia was diagnosed in 11 cases (11.1%). Furthermore, 6 pregnancies (6.2%) were complicated by IUFD, and 36 pregnancies (36.4%) resulted in preterm birth before 32 + 0 weeks of gestation. Conclusions: Hypertension and PE are common maternal complications in triplet pregnancies. While higher maternal age is a clear predictor of hypertension and PE, a model based on maternal and pregnancy characteristics did not provide sufficient predictive accuracy. Full article
(This article belongs to the Special Issue Insights into Perinatal Medicine and Fetal Medicine—2nd Edition)
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12 pages, 226 KB  
Article
Factors Associated with Adverse Birth Outcomes in Women with an Intellectual or Other Developmental Disability
by Kyle Bradford Jones, Isabel K. Taylor, Tyson Schwab, Camille King, Godwin Okoye and Jaewhan Kim
Healthcare 2025, 13(7), 780; https://doi.org/10.3390/healthcare13070780 - 31 Mar 2025
Cited by 1 | Viewed by 1816
Abstract
Objective. Women with intellectual or developmental disabilities (IDDs) experience poorer prenatal care and worse perinatal health and birth outcomes than the general population. The purpose of this study is to describe the maternal characteristics and to identify factors associated with the increased risk [...] Read more.
Objective. Women with intellectual or developmental disabilities (IDDs) experience poorer prenatal care and worse perinatal health and birth outcomes than the general population. The purpose of this study is to describe the maternal characteristics and to identify factors associated with the increased risk of adverse birth outcomes among women with an IDD. Methods. Electronic medical records and the Utah Population Database were used to identify demographic and medical characteristics of pregnant individuals between 14 and 45 years old with an IDD and the related birth outcomes. Random-effects logistic regression was used to identify factors that were associated with adverse birth outcomes. Results. A total of 5147 births by 2250 mothers with an IDD (average births per mother = 2.33) were identified. Multigestational pregnancy (twins or triplets) (OR = 32.85, p < 0.01), fewer prenatal care visits (OR = 3.01, <0.01), gestational hypertension (OR = 2.74, p < 0.01), and the presence of a mental illness (OR = 1.28, p = 0.01) had an increased risk for preterm delivery. Associated low birth weight factors included multigestational pregnancy (OR = 22.82, p < 0.01), gestational hypertension (OR = 3.23, p < 0.01), maternal smoking status (OR = 1.54, p < 0.01), fewer prenatal visits (OR = 2.91, p < 0.01), and maternal mental health disorder (OR = 1.66, p < 0.01). Cesarean deliveries were associated with gestational hypertension (OR = 2.33, p < 0.01), Medicaid coverage (OR = 1.76, p < 0.01), and gestational diabetes (OR = 1.42, p < 0.01). Neonatal intensive care unit (NICU) admission was associated with increasing maternal age, multigestational pregnancy, the number of prenatal care visits, hypertension, and maternal mental disorders. Conclusions. These results suggest that sociodemographic factors and health problems put women with an IDD at a higher risk of adverse pregnancy and infant outcomes. Appropriate clinical care and social supports should be utilized to optimize the health and outcomes of this population. Full article
(This article belongs to the Special Issue Maternal and Child Health: Advances in Translational Research)
10 pages, 227 KB  
Article
Perinatal Outcomes of Singleton, Twin and Triplet Gestations after Oocyte Donation: A Retrospective, Population-Based Cohort Analysis
by Or Eliner, Roni Rahav Koren, Hila Shalev Ram, Mattan Levi, Einat Haikin Herzberger, Amir Wiser and Netanella Miller
Children 2024, 11(8), 962; https://doi.org/10.3390/children11080962 - 10 Aug 2024
Cited by 2 | Viewed by 2091
Abstract
Background/Objectives: Although high live birth rates are associated with oocyte donation (OD), these pregnancies are associated with increased obstetric and perinatal risks. This study evaluated maternal and neonatal risks after OD compared to in vitro fertilization (IVF) with autologous oocytes, and to spontaneous [...] Read more.
Background/Objectives: Although high live birth rates are associated with oocyte donation (OD), these pregnancies are associated with increased obstetric and perinatal risks. This study evaluated maternal and neonatal risks after OD compared to in vitro fertilization (IVF) with autologous oocytes, and to spontaneous pregnancies (SPs), among singletons, twins and triplets. Methods: A retrospective, large, population-based cohort study was conducted based on electronic data from Maccabi Healthcare Services. A total of 469,134 pregnancies were grouped according to the mode of conception. The main outcome measures were preterm birth (PTB), small for gestational age (SGA) and pregnancy-induced hypertension (PIH). The data were analyzed separately for singletons, twins and triplets. Results: The mean maternal age was older in the OD group compared with the IVF and SP groups (singletons: 39.7 ± 4.1 vs. 34.5 ± 4.8 and 31.7 ± 5.3 years; twins: 39 ± 4.6 vs. 32.6 ± 4.4 and 31.2 ± 5.1 years; and triplets: 35.6 ± 2.5 vs. 32 ± 3.9 and 29.7 ± 5 years). The mean gestational age was younger among the OD group compared to the SP group (singletons: 37.5 ± 3 vs. 39 ± 2 p = 0.001, and twins: 35 ± 3 vs. 36 ± 2.5 p = 0.001). Higher rates of PTB < 37, PTB < 34 and PTB < 28 weeks were found among OD singletons. Multivariable logistic regressions for PTB < 37 weeks and SGA in singletons demonstrated that OD and IVF are significant risk factors (OR = 4.1, 95%CI = 3.3–5.2; OR = 4.3, 95%CI = 4.1–4.6; OR = 1.9, 95%CI = 1.3–2.6; OR = 2.2, 95%CI = 2–2.4, respectively). Significantly higher rates of PIH were demonstrated among the OD vs. IVF and SP groups in singleton (4.3% vs. 1.7% and 0.7%) and in twin pregnancies (7.5% vs. 4.3% and 3.4%). Conclusions: OD pregnancies are at increased risk for PTB, SGA and PIH. Full article
(This article belongs to the Section Pediatric Neonatology)
10 pages, 915 KB  
Article
High Concentrate Supplementation during Late Pregnancy and Lambing Reduced Mortality of Triplet-Bearing Maternal Ewes
by Emmanuelle Haslin, Sarah E. Blumer, Darren Gordon, Gavin A. Kearney, Paul R. Kenyon, Lyndon J. Kubeil, Gordon Refshauge, Jason P. Trompf and Andrew N. Thompson
Animals 2024, 14(16), 2302; https://doi.org/10.3390/ani14162302 - 8 Aug 2024
Viewed by 1942
Abstract
Low survival of triplet-bearing ewes and their lambs represents lost production and a welfare issue. The effects of feed-on-offer (FOO; low: 1205 vs. high: 1980 kg DM/ha) and concentrate supplementation (low: 50 vs. high: 300+ g/ewe/day) levels during late pregnancy and lambing on [...] Read more.
Low survival of triplet-bearing ewes and their lambs represents lost production and a welfare issue. The effects of feed-on-offer (FOO; low: 1205 vs. high: 1980 kg DM/ha) and concentrate supplementation (low: 50 vs. high: 300+ g/ewe/day) levels during late pregnancy and lambing on the survival of triplet-bearing ewes and their lambs were investigated on 10 commercial farms using 1772 triplet-bearing Maternal ewes. Ewe and lamb survival were estimated at marking, and ewe body condition score (BCS) was recorded in late pregnancy and at marking. Although FOO treatment had no effect on triplet-bearing ewe mortality, receiving higher supplementation decreased mortality by 40% and increased BCS at marking by 0.14 compared with a lower supplementation (p < 0.05). Supplementation, FOO treatments, weather conditions during lambing and shelter availability had no effect on triplet-lamb survival. These findings suggest no additional benefit to triplet-bearing ewe survival when FOO levels exceed 1200 kg DM/ha during late pregnancy and lambing, but increased supplementation can reduce ewe mortality. Further research is required to determine the response to the supplementation level at lower FOO levels on triplet-bearing Merino ewes and their lambs and establish whether supplementation of triplet-bearing ewes during late pregnancy and lambing with higher levels of concentrates would be cost-effective. Full article
(This article belongs to the Special Issue Nutrition and Reproduction Relationships in Animals)
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13 pages, 7824 KB  
Case Report
The Clinical Heterogeneity of Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)—A Report of Three Cases, Including Twins
by Alicja Leśniak, Marta Glińska, Michał Patalan, Iwona Ostrowska, Monika Świrska-Sobolewska, Kaja Giżewska-Kacprzak, Agata Kotkowiak, Anna Leśniak, Mieczysław Walczak, Robert Śmigiel and Maria Giżewska
Genes 2024, 15(8), 997; https://doi.org/10.3390/genes15080997 - 30 Jul 2024
Cited by 2 | Viewed by 3205
Abstract
Spinal muscular atrophy with respiratory distress type 1 (SMARD1; OMIM #604320, ORPHA:98920) is a rare autosomal recessive congenital motor neuron disease. It is caused by variants in the IGHMBP2 gene. Clinically, it presents with respiratory failure due to diaphragmatic paralysis, progressive muscle weakness [...] Read more.
Spinal muscular atrophy with respiratory distress type 1 (SMARD1; OMIM #604320, ORPHA:98920) is a rare autosomal recessive congenital motor neuron disease. It is caused by variants in the IGHMBP2 gene. Clinically, it presents with respiratory failure due to diaphragmatic paralysis, progressive muscle weakness starting in the distal parts of the limbs, dysphagia, and damage to sensory and autonomic nerves. Unlike spinal muscular atrophy (SMA), SMARD1 has a distinct genetic etiology and is not detected in the population newborn screening programs. Most children with SMARD1 do not survive beyond the first year of life due to progressive respiratory failure. Artificial ventilation can prolong survival, but no specific treatment is available. Therapy focuses on mechanical ventilation and improving the patient’s quality of life. Research into gene therapy is ongoing. We report three female patients with SMARD1, including twins from a triplet pregnancy. In twin sisters (patient no. 1 and patient no. 2), two heterozygous variants in the IGHMBP2 gene were identified: c.595G>C/p.Ala199Pro and c.1615_1623del/p.Ser539_Tyr541del. In patient no. 3, a variant c.1478C>T/p.Thr493Ile and a variant c.439C>T/p.Arg147* in the IGHMBP2 gene were detected. Our findings underscore the variability of clinical presentations, even among patients sharing the same pathogenic variants in the IGHMBP2 gene, and emphasize the importance of early genetic diagnosis in patients presenting with respiratory failure, with or without associated diaphragmatic muscle paralysis. Full article
(This article belongs to the Section Molecular Genetics and Genomics)
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9 pages, 220 KB  
Article
The Outcome after Laser Therapy of Monochorionic Twin Pregnancies Complicated by Twin-Twin Transfusion Syndrome with Coexistent Selective Fetal Growth Restriction
by Javier U. Ortiz, Johanna Guggenberger, Oliver Graupner, Eva Ostermayer, Bettina Kuschel and Silvia M. Lobmaier
J. Clin. Med. 2024, 13(8), 2432; https://doi.org/10.3390/jcm13082432 - 21 Apr 2024
Cited by 4 | Viewed by 3642
Abstract
Background: Most previous studies evaluated outcomes of twin–twin transfusion syndrome (TTTS) without considering the coexistence of selective fetal growth restriction (sFGR). The objectives of this study were to compare twin survival and pregnancy complications after laser therapy of TTTS with and without sFGR. [...] Read more.
Background: Most previous studies evaluated outcomes of twin–twin transfusion syndrome (TTTS) without considering the coexistence of selective fetal growth restriction (sFGR). The objectives of this study were to compare twin survival and pregnancy complications after laser therapy of TTTS with and without sFGR. Methods: For this purpose, a retrospective cohort study including 98 monochorionic diamniotic twins and three dichorionic triamniotic triplets treated in a single tertiary center was conducted. Results: Overall, 46 twins had selective fetal growth restriction (26 type I, 13 type II, 7 type III). At birth, donor survival (61% vs. 91%), double survival (57% vs. 82%), and overall survival (75% vs. 88%) were significantly lower in the group with coexistent sFGR. Recipient survival (89% vs. 86%), miscarriage (7% vs. 2%), PPROM < 32 weeks (48% vs. 29%), and preterm delivery < 32 weeks (52% vs. 45%) were not significantly higher in the group with coexistent sFGR. Donor twins with sFGR type I (69% vs. 91%) and types II–III (50% vs. 91%) showed significantly lower survival than those without sFGR. Multivariate regression analysis identified sFGR and its subtypes as independent predictors of donor demise. Conclusions: the coexistence of sFGR in TTTS pregnancies was associated with poor donor outcomes and is probably the most important predictor of donor survival. Full article
18 pages, 1113 KB  
Article
Maternal, Perinatal and Neonatal Outcomes of Triplet Pregnancies According to Chorionicity: Our 15-Year Experience in a Tertiary-Level Center
by Mireia Bernal Claverol, Irene Aracil Moreno, María Ruiz Minaya, María Fernández Muñoz, Zurine Raquel Reyes Angullo, Pablo González Navarro, Natalio García-Honduvilla, Miguel A. Ortega, Santiago García Tizón, María P. Pintado-Recarte and Juan A. de León-Luis
J. Clin. Med. 2024, 13(6), 1793; https://doi.org/10.3390/jcm13061793 - 20 Mar 2024
Cited by 7 | Viewed by 5017
Abstract
Introduction: The goal of this study was to evaluate the effect of chorionicity on maternal, fetal and neonatal morbidity and mortality in triplet pregnancies in our environment. Methods: A retrospective observational study was carried out on triplet pregnancies that were delivered [...] Read more.
Introduction: The goal of this study was to evaluate the effect of chorionicity on maternal, fetal and neonatal morbidity and mortality in triplet pregnancies in our environment. Methods: A retrospective observational study was carried out on triplet pregnancies that were delivered in a tertiary center between 2006 and 2020. A total of 76 pregnant women, 228 fetuses and 226 live newborns were analyzed. Of these triplet pregnancies, half were non-trichorionic. We analyzed maternal characteristics and obstetric, fetal, perinatal and neonatal complications based on their chorionicity, comparing trichorionic vs. non-trichorionic triplet pregnancies. Prematurity was defined as <34 weeks. We measured perinatal and neonatal mortality, composite neonatal morbidity and composite maternal morbidity. Results: Newborns with a monochorionic component had a lower gestational age at birth, presented greater prematurity under 34 weeks, lower birth weight, greater probability of birth weight under 2000 g and an APGAR score below 7 at 5 min after birth, more respiratory distress syndrome and, overall, higher composite neonatal morbidity. The monochorionic component of triple pregnancies may entail the development of complications intrinsic to shared circulation and require premature elective termination. This greater prematurity is also associated with a lower birth weight and to the main neonatal complications observed. These findings are in line with those that were previously published in the meta-analysis by our research group and previous literature. Discussion: Triplet gestations with a monochorionic component present a higher risk of obstetric, fetal and neonatal morbidity and mortality. Full article
(This article belongs to the Special Issue Maternal Fetal Medicine and Perinatal Management)
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9 pages, 1672 KB  
Article
Butterflies and Ribbons: Supporting Families Experiencing Perinatal Loss in Multiple Gestation
by Béatrice Boutillier, Nicholas D. Embleton, Sophie Bélanger, Alexie Bigras-Mercier, Audrey Larone Juneau, Keith J. Barrington and Annie Janvier
Children 2023, 10(8), 1407; https://doi.org/10.3390/children10081407 - 18 Aug 2023
Cited by 5 | Viewed by 3513
Abstract
Introduction: In neonatology, multiple pregnancies are common. Unfortunately, it is not rare for one baby to die. Communication with parents in these circumstances has been demonstrated to be sub-optimal. Methods: Two educational programs were evaluated with pre- and post-course surveys, questionnaires administered to [...] Read more.
Introduction: In neonatology, multiple pregnancies are common. Unfortunately, it is not rare for one baby to die. Communication with parents in these circumstances has been demonstrated to be sub-optimal. Methods: Two educational programs were evaluated with pre- and post-course surveys, questionnaires administered to participants, and audits. Results: In the online Butterfly project (UK; n = 734 participants), all participants reported that the training exceeded or met their expectations, 97% reported they learned new skills, and 48% had already applied them. Participants expressed gratitude in their open-ended answers: “I feel a lot more confident in supporting parents in this situation”. In the Ribbon project (workshop for neonatal clinicians, Quebec; n = 242), 97% were satisfied with the training and reported feeling more comfortable caring for bereaved parents. Knowledge improved pre–post training. Audits revealed that 100% of cases were identified on the incubator and the baby’s/babies’ admission card, all changed rooms after the death of their co-twin/triplet, and all had the name of their co-twin/triplet on the discharge summary. All clinicians (55) knew what the ribbon symbol meant when asked during surprise audits at the bedside. Conclusion: Different educational strategies to optimize communication with families after the perinatal loss of a co-twin are appreciated and have a positive impact. Full article
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14 pages, 1014 KB  
Article
Management of Body Condition Score between Pregnancy Scanning and Lamb Marking Impacts the Survival of Triplet-Bearing Ewes and Their Lambs
by Emmanuelle Haslin, Travis Allington, Sarah E. Blumer, Johan Boshoff, Bronwyn E. Clarke, Serina N. Hancock, Gavin A. Kearney, Paul R. Kenyon, Jarryd Krog, Lyndon J. Kubeil, Amy Lockwood, Gordon Refshauge, Jason P. Trompf and Andrew N. Thompson
Animals 2023, 13(13), 2057; https://doi.org/10.3390/ani13132057 - 22 Jun 2023
Cited by 11 | Viewed by 2972
Abstract
This study evaluated the impacts of management of body condition score (BCS) between pregnancy scanning and lamb marking on the mortality of triplet-bearing ewes and their lambs at 19 research sites across Southern Australia. Triplet-bearing ewes of Maternal (crossbred or composite) or Merino [...] Read more.
This study evaluated the impacts of management of body condition score (BCS) between pregnancy scanning and lamb marking on the mortality of triplet-bearing ewes and their lambs at 19 research sites across Southern Australia. Triplet-bearing ewes of Maternal (crossbred or composite) or Merino breed were randomly allocated to treatment at pregnancy scanning at an average of 97 days from the start of joining: High or Low BCS. The BCS of individual ewes was assessed at pregnancy scanning, pre-lambing (average of 137 days from the start of joining) and marking (average of 165 days from the end of joining), and ewe and lamb mortality to marking, recorded for each mob. The average BCS at pregnancy scanning was 3.4 for Maternal ewes and 3.3 for Merino ewes. There were no breed by BCS treatment effects on the BCS of ewes at pregnancy scanning or lamb marking or on the change in BCS between pregnancy scanning and pre-lambing or between pre-lambing and marking. The change in BCS differed between the High and Low BCS treatments, between pregnancy scanning and pre-lambing (0.12 vs. −0.33; p < 0.001) and between pre-lambing and marking (−0.39 vs. 0.07; p < 0.001) but did not differ between breeds. The average BCS at marking for ewes managed at the High and Low BCS treatments was 3.1 and 3.0 for Maternals and 3.0 and 2.8 for Merinos. Survival of triplet-bearing Merino ewes (p < 0.01) and their lambs (p < 0.001) was greater when ewes were managed at the High BCS compared to the Low BCS. The BCS treatment did not impact the survival of Maternal ewes or their lambs. The survival of Merino but not Maternal lambs was higher when ewes were in greater BCS pre-lambing (p < 0.01) and when ewes gained BCS between pregnancy scanning and pre-lambing (p < 0.01). Ewe mortality was lower when ewes gained BCS between pregnancy scanning and pre-lambing (p < 0.05). Merino ewes were more likely to die than Maternal ewes for a given change in BCS between pregnancy scanning and pre-lambing (p = 0.065). Overall, our findings demonstrate that producers should manage the nutrition of triplet-bearing Merino ewes so that ewes are in greater BCS at lambing and/or to gain BCS between pregnancy scanning and lambing to improve ewe and lamb survival. Triplet-bearing Maternal ewes should be managed to gain BCS between pregnancy scanning and lambing to improve ewe survival. Full article
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Article
Calcium, Potassium, Sodium, and Magnesium Concentrations in the Placenta, Umbilical Cord, and Fetal Membrane from Women with Multiple Pregnancies
by Konrad Grzeszczak, Patrycja Kapczuk, Patrycja Kupnicka, Elżbieta Cecerska-Heryć, Sebastian Kwiatkowski, Dariusz Chlubek and Danuta Kosik-Bogacka
Life 2023, 13(1), 153; https://doi.org/10.3390/life13010153 - 5 Jan 2023
Cited by 10 | Viewed by 6504
Abstract
Calcium (Ca), potassium (K), sodium (Na), and magnesium (Mg) are the elements responsible for the fundamental metabolic and biochemical processes in the cells of the body. The demand for these elements increases significantly during pregnancy, where an adequate supply protects women from the [...] Read more.
Calcium (Ca), potassium (K), sodium (Na), and magnesium (Mg) are the elements responsible for the fundamental metabolic and biochemical processes in the cells of the body. The demand for these elements increases significantly during pregnancy, where an adequate supply protects women from the hypertension common in pre-eclampsia and preterm labor. This study aimed to evaluate the association between macro-elements (Ca, Mg, Na, and K) in the placenta, fetal membrane, and umbilical cord and the morphometric parameters of newborns from multiple pregnancies. The study involved 57 pregnant European women with healthy uncomplicated twin pregnancies (n = 52) and triple pregnancies (n = 5); 40 pairs of dichorionic diamniotic twins, 11 pairs of monochorionic diamniotic twins, 1 pair of monochorionic monoamniotic twins, 3 trichorionic triamniotic triplets, and 2 dichorionic triamniotic triplets. Placentas (n = 107), umbilical cords (n = 114), and fetal membranes (n = 112) were collected immediately following delivery, and then weighed and measured. The levels of Ca, K, Na, and Mg were determined using inductively coupled plasma atomic emission spectroscopy (ICP-OES) in a Thermo Scientific ICAP 7400 Duo (Waltham, MA, USA). The respective mean concentrations of Ca, K, Na, and Mg (mg/kg−1 dry mass) were: 2466, 8873, 9323, and 436 in the placenta; 957, 6173, 26,757, and 326 in the umbilical cord, and 1252, 7460, 13,562, and 370 in the fetal membrane. In the studied materials from northwestern Poland, we found strong positive correlations between Ca and Mg concentrations in both the umbilical cord (r = 0.81, p = 0.00) and the fetal membrane (r = 0.73, p = 0.00); between K and Mg concentrations in the umbilical cord (r = 0.73, p = 0.00); between Ca and K concentrations in the fetal membrane (r = 0.73, p = 0.00), and we found moderately positive correlations between placental Ca concentration and placental weight (ρ = 0.42, p = 0.00) and between umbilical cord Mg concentrations and the length of the pregnancy (ρ = 0.42, p = 0.00). Negative correlations were found between Na and Ca concentrations in the fetal membrane (r = −0.40, p = 0.00) and Na concentrations in the fetal membrane and Mg concentrations in the placenta (r = −0.16, p = 0.02). Negative correlations were confirmed between the length of pregnancy and head circumference (ρ = −0.42; p = 0.00), infant weight (ρ = −0.42; p = 0.00), infant length (ρ = −0.49; p = 0.00), shoulder width (ρ = −0.49; p = 0.00); and between the infant weight and head circumference (ρ = −0.62; p = 0.00), weight before delivery (ρ = −0.36; p = 0.00), infant length (ρ = −0.45; p = 0.00), shoulder width (ρ = −0.63; p = 0.00), and weight gain during pregnancy (ρ = −0.31; p = 0.01). We found statistically significant correlations between cigarette smoking before pregnancy and the women’s weight before delivery (ρ = 0.32, p = 0.00), and a negative correlation between the women’s ages and infant head circumference (ρ = −0.20, p = 0.02). This is probably the first study to evaluate Ca, Na, K, and Mg concentrations in the afterbirth tissues of multiple pregnancies. It adds to the knowledge of elemental concentrations in multiple pregnancies and their possible effects on fetal morphometric parameters. Full article
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