American journal of perinatology最新文献

{"title":"Effect of Maternal Body Mass Index on N-Terminal Pro B-Type Natriuretic Peptide Levels in the Third Trimester.","authors":"Upma Saxena, Priyanka Yadav, Abhishek Lachyan, Anita Rani","doi":"10.1055/a-2463-4410","DOIUrl":"10.1055/a-2463-4410","url":null,"abstract":"<p><p>Maternal body mass index (BMI) and cardiac biomarkers, such as N-terminal pro-B-type natriuretic peptide (NT-proBNP), have been subjects of interest in obstetric research due to their potential implications for maternal and fetal health. Previous studies have explored the relationship between maternal BMI and various pregnancy outcomes, but the impact on NT-proBNP levels remains unclear. This study aims to investigate whether maternal BMI influences NT-proBNP levels in the third trimester of pregnancy, which could provide insights into maternal cardiovascular health during late gestation.A total of 234 singleton pregnant women in their third trimester (28-40 weeks) were recruited from Antenatal Care Clinic. Exclusion criteria included preexisting cardiac or renal conditions, hypertension, diabetes mellitus, and other specific medical conditions. Participants were categorized into BMI groups (< 23, 23-24.9, 25-29.9, and ≥30 kg/m²), and their NT-proBNP levels were measured using quantitative enzyme-linked immunosorbent assay kits. Statistical analyses including Spearman correlation, chi-squared test, Kruskal-Wallis test, and regression analysis were performed to assess the association between maternal BMI and NT-proBNP levels.The study population exhibited a range of BMI and NT-proBNP levels within normal ranges. No significant correlation was found between maternal age, parity, and NT-proBNP levels. Similarly, no significant association was observed between maternal BMI and NT-proBNP levels across different BMI categories. Trend analyses showed no consistent relationship between BMI and NT-proBNP levels. Multivariate and univariate regression analyses confirmed the lack of significant association between maternal BMI and NT-proBNP levels.Contrary to expectations, this study found no significant effect of maternal BMI on NT-proBNP levels in the third trimester of pregnancy. These findings suggest that factors other than maternal BMI may predominantly influence NT-proBNP levels during late gestation. Further research is warranted to elucidate the complex interactions between maternal physiology, BMI, and cardiovascular biomarkers during pregnancy. · This study aimed to examine the influence of maternal BMI on NT-proBNP.. · No significant correlation between maternal BMI and NT-proBNP levels was found.. · Other factors likely influence NT-proBNP levels, warranting further research..</p>","PeriodicalId":7584,"journal":{"name":"American journal of perinatology","volume":" ","pages":"1141-1151"},"PeriodicalIF":1.5,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142779184","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"COVID-19 Serostatus Does Not Affect the Intrauterine Transfer of Micronutrients and Fatty Acids or Maternal-Fetal Lymphocyte Cell Composition: An Observational Study.","authors":"Mullapudi V Surekha, Gargi Meur, Nadimpalli Suneetha, Nagalla Balakrishna, Putcha U Kumar, Bhukya Tulja, K Suryam Reddy, Ahmed Ibrahim, Pratha Sunitha","doi":"10.1055/a-2480-5329","DOIUrl":"10.1055/a-2480-5329","url":null,"abstract":"<p><p>Studies on the effects of coronavirus disease 2019 (COVID-19) on pregnant mothers and their newborns, specifically in relation to their micronutrient status, fatty acids (FAs), and inflammatory status are sparse. We hypothesized that COVID-19 infection would adversely affect the transfer of nutrients, and FAs from mothers to their fetuses via the umbilical cord and maternal-fetal distribution of inflammatory cells. This study aimed to determine the effect of COVID-19 on micronutrients, inflammatory markers, and FAs profiles in pregnant mothers and their newborns' cord blood.This was a cross-sectional study of 212 pregnant mothers in the third trimester and their newborns, recruited after testing for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) serostatus. Peripheral blood of mothers and cord blood were collected at birth and analyzed for vitamin B12 (Vit B12), folic acid, 25(OH)D3, FAs, and peripheral blood mononuclear cells. Student's <i>t</i>-test or analysis of variance (ANOVA) was used to express statistical significance. Non-normal data were tested using the Mann-Whitney <i>U</i> test and Kruskal-Wallis test, with proportions compared with the chi-square test.Vit B12 levels were significantly low and adrenic acid levels significantly high in COVID-19 seropositive mothers while 25(OH)D3 was significantly low in seropositive cord blood. Irrespective of COVID-19 serostatus, folate, vit B12, saturated FA levels were significantly high in cord blood indicating their increased transfer from mothers to the fetus. However, monounsaturated (MUFA) and polyunsaturated fatty acid (PUFA) levels were significantly lower in cord blood. Irrespective of COVID-19 serostatus, CD4⁺ T helper cells (percentage of lymphocytes) were significantly higher in cord blood, while NK cells, NK-T cells, and CD8⁺ T-cytotoxic cells-percentage of lymphocytes-were significantly lower in cord blood when compared with corresponding mother's blood.The results indicate that while COVID-19 did not impede the transfer of essential nutrients such as MUFA and PUFA from mother to fetus, or affect maternal-fetal immune cell responses, it did appear to affect the levels of vit B12, vitamin D, and adrenic acid. · COVID-19 did not impede essential fatty acids transfer through cord blood.. · COVID-19 affected maternal-fetal immune responses.. · COVID-19 affected vitB12, vitamin D and adrenic acid levels..</p>","PeriodicalId":7584,"journal":{"name":"American journal of perinatology","volume":" ","pages":"1213-1222"},"PeriodicalIF":1.5,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142885233","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Association between Perinatal Complications and Adverse Childhood Experiences: Findings from a Nationwide Online Survey.","authors":"Yousuke Imanishi, Ichiro Wada, Takahiro Tabuchi","doi":"10.1055/a-2464-3665","DOIUrl":"10.1055/a-2464-3665","url":null,"abstract":"<p><p>This study aimed to evaluate the association between maternal adverse childhood experiences (ACEs) levels and the risk of perinatal complications.This is a retrospective cohort study of 5,693 mother-child pairs born between 2019 and 2021, who completed questionnaires on maternal ACE scores and perinatal complications such as preterm birth, low birth weight infants, pregnancy-induced hypertension (PIH), gestational diabetes mellitus (GDM), and premature rupture of membrane (PROM). Odds ratios (OR) and 95% confidence intervals (CI) were calculated using logistic regression according to the three ACE score groups after adjusting for confounding factors such as maternal age, child's sex, household income, and maternal education.Maternal ACEs have a significant positive correlation with preterm birth (OR: 1.42, 95% CI: 1.09-1.86, <i>p</i> for trend = 0.009), PIH (OR: 1.55, 95% CI: 1.17-2.07, <i>p</i> for trend = 0.002), and PROM (OR: 1.42, 95% CI: 1.09-1.84, <i>p</i> for trend = 0.01). These associations remained unchanged when stratified according to smoking, alcohol consumption, and obesity.Maternal ACEs were associated with the risk of perinatal complications such as preterm birth, PIH, and PROM. · Maternal ACEs are linked to higher risks of preterm birth, PIH, and PROM.. · Parental divorce, emotional abuse, and neglect were the most common ACEs among Japanese mothers.. · Mothers with ACEs score ≥ 2 had a higher risk of perinatal complications..</p>","PeriodicalId":7584,"journal":{"name":"American journal of perinatology","volume":" ","pages":"1168-1178"},"PeriodicalIF":1.5,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142821822","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transverse versus Vertical Incision in the Surgical Management of Placenta Accreta Spectrum.","authors":"Austin Oberlin, Katherine Yoh, Eve Overton, Whitney A Booker, John G Ilagan, Dib Sassine, Alexandra Diggs, Sherelle Laifer-Narin, Adela Cimic, Laurence E Ring, Maria Sheikh, Caryn St Clair, June Hou, Alexandre Buckley De Meritens, Jason D Wright, Mary D'Alton, Chia-Ling Nhan Chang, Mirella Mourad, Fady Khoury-Collado","doi":"10.1055/a-2479-2604","DOIUrl":"10.1055/a-2479-2604","url":null,"abstract":"<p><p>Traditionally, midline vertical skin incisions have been utilized during surgery for placenta accreta spectrum (PAS), as it is considered to maximize exposure and allow for a uterine incision to avoid the placenta. However, literature directly comparing outcomes of vertical versus transverse incisions in PAS is sparse. Our objective was to compare maternal outcomes between patients who underwent a vertical versus a transverse skin incision for PAS.Retrospective review of patients with pathologically confirmed PAS undergoing scheduled surgery at our institution between September 2019 and November 2023. Starting in October 2021, select patients were offered a transverse skin approach. Patients were eligible if the surgery was scheduled, and the placenta was not entirely covering the anterior uterine wall. The transverse skin incision was approximately 18 to 20 cm and used the patient's prior scar. Primary outcomes included the rate of maternal transfusion >4 units of packed red blood cells (PRBCs), the incidence of surgical complications, and the need for conversion to general anesthesia (GETA).Seventy patients underwent scheduled surgery for PAS. Thirty-three patients had a vertical skin incision, and 37 had a transverse incision. After initiation of the transverse incision approach, 37/43 (86%) had a transverse incision and none required conversion to a vertical incision intraoperatively. The two groups were similar with regard to age, body mass index (BMI; kg/m²), and severity of PAS. There was no difference in the rate of transfusion of >4 units of PRBCs (vertical 12% vs. transverse 22%, <i>p</i> = 0.29), or in the rate of intraoperative complications (i.e., cystotomy; vertical 3% vs. transverse 14%, <i>p</i> = 0.20). In patients with a transverse incision, a significantly lower number of patients required conversion to GETA intraoperatively (vertical 70% vs. transverse 24%, <i>p</i> < 0.001).In appropriately selected patients, a transverse skin incision was associated with lower conversion to GETA without any difference in intraoperative outcomes. · Transverse incision for PAS has equivalent surgical outcomes.. · Fewer patients require GETA with a transverse incision.. · Transverse incision for PAS may need fewer narcotics..</p>","PeriodicalId":7584,"journal":{"name":"American journal of perinatology","volume":" ","pages":"1200-1205"},"PeriodicalIF":1.5,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142680589","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of Cannabis Legalization on Umbilical Cord Tissue Tetrahydrocannabinol Levels.","authors":"Kimberly Spence, Sarah Milota, Paula Buchanan, Nirja Acharya, Amit M Mathur","doi":"10.1055/a-2480-3163","DOIUrl":"10.1055/a-2480-3163","url":null,"abstract":"<p><p>This study aimed to assess the impact of cannabis legalization on both qualitative and quantitative umbilical cord tissue tetrahydrocannabinol (THC) rates and concentrations as a proxy for fetal exposure.This is a retrospective, observational study of umbilical cord tissue THC levels in a single center, comparing THC exposure rates and concentration levels before and after cannabis legalization in the state of Illinois, Epoch 1 (October 1, 2018-June 30, 2019, pre-legalization) and Epoch 2 (July 1, 2019-August 31, 2021, post-legalization).A total of 811 umbilical cords were analyzed during epoch 1 and 2,170 during epoch 2. A higher percentage of umbilical cord tissue tested positive for THC in Epoch 2 compared with Epoch 1 (46.2 vs. 40.6%; <i>p</i> < 0.01). Mean THC levels were 51% higher in umbilical cord tissue in Epoch 2 versus Epoch 1 (6.2 ng/g vs. 4.1 ng/g; <i>p</i> < 0.001).Legalization of recreational cannabis was associated with more fetuses exposed to THC and in higher concentrations. · THC concentration can be measured in umbilical cord tissue after birth.. · THC positivity in umbilical cord tissue can be used as a proxy for fetal exposure to cannabis.. · Umbilical cord tissue THC concentration and rates of positivity increased with the legalization of cannabis..</p>","PeriodicalId":7584,"journal":{"name":"American journal of perinatology","volume":" ","pages":"1206-1212"},"PeriodicalIF":1.5,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142685849","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Review of Third-Trimester Complications in Pregnancies Complicated by Diabetes Mellitus.","authors":"Shaun R Welsey, Jessica Day, Scott Sullivan, Sarah D Crimmins","doi":"10.1055/a-2407-0946","DOIUrl":"10.1055/a-2407-0946","url":null,"abstract":"<p><p>Pregnancies affected by both pregestational and gestational diabetes mellitus carry an increased risk of adverse maternal and neonatal outcomes. While the risks associated with diabetes in pregnancy have been well documented and span across all trimesters, maternal and neonatal morbidity have been associated with select third-trimester complications. Further, modifiable risk factors have been identified that can help improve pregnancy outcomes. This review aims to examine the relationship between select third-trimester complications (large for gestational age, intrauterine fetal demise, hypertensive disorders of pregnancy, preterm birth, perineal lacerations, shoulder dystocia, and cesarean delivery) and the aforementioned modifiable risk factors, specifically glycemic control, blood pressure control, and gestational weight gain. It also highlights how early optimization of these modifiable risk factors can reduce adverse maternal, fetal, and neonatal outcomes. · Diabetes mellitus in pregnancy increases the risk of third-trimester complications.. · Modifiable risk factors exist for these complications.. · Optimizing these modifiable risk factors improves maternal and neonatal outcomes..</p>","PeriodicalId":7584,"journal":{"name":"American journal of perinatology","volume":" ","pages":"1119-1126"},"PeriodicalIF":1.5,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142339306","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"From Standard of Care to Emerging Innovations: Navigating the Evolution of Pharmacological Treatment of Gestational Diabetes.","authors":"Anna Palatnik, Maisa N Feghali","doi":"10.1055/a-2407-0905","DOIUrl":"10.1055/a-2407-0905","url":null,"abstract":"<p><p>The incidence of gestational diabetes mellitus (GDM) continues to increase in the United States and globally. While the first-line treatment of GDM remains diet and exercise, 30% of patients with GDM will require pharmacotherapy. However, many controversies remain over the specific glycemic threshold values at which pharmacotherapy should be started, how intensified the therapy should be, and whether oral agents are effective in GDM and remain safe for long-term offspring health. This review will summarize recently completed and ongoing trials focused on GDM pharmacotherapy, including those examining different glycemic thresholds to initiate therapy and treatment intensity. · The incidence of GDM continues to increase in the United States and globally.. · While the first-line treatment of GDM remains diet, 30% of patients require pharmacotherapy.. · Controversies remain over the specific glycemic threshold values at which pharmacotherapy is needed.. · Another controversy is how tightly to control GDM.. · Additional controversies are the safety of metformin and incretins in terms of offspring's long-term health..</p>","PeriodicalId":7584,"journal":{"name":"American journal of perinatology","volume":" ","pages":"1127-1134"},"PeriodicalIF":1.5,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11946926/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142339311","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Ongoing U.S. Struggle with Maternal Mortality.","authors":"James A O'Brien, Adam K Lewkowitz, Elliot K Main, Eli Y Adashi","doi":"10.1055/a-2404-8035","DOIUrl":"10.1055/a-2404-8035","url":null,"abstract":"<p><p>Despite significant efforts over the past two decades, the maternal mortality rate (MMR) in the United States remains at least double that of most other high-income countries (HICs). In addition, substantial racial disparities exist with MMRs among Black and American Indian/Alaska Native women two to three times higher than White, Hispanic, and Asian/Pacific Islander counterparts. Of the three surveillance systems currently in place, <i>Maternal Mortality Review Committees</i> (MMRCs) are widely considered to provide the highest quality data. MMRCs in combination with <i>Perinatal Quality Collaboratives</i> and other successful initiatives provide the best hope of reversing these concerning trends. The state of maternal health in the United States is at a critical juncture. To reach the ultimate goal of rendering the United States as one of the \"safest countries in the world to give birth\" will require greater coordination and consolidation of national efforts across the entire prenatal, perinatal, and postpartum continuum. The authors make suggestions to create a robust federal infrastructure to finally provide equitable high-quality maternal care and bring U.S. maternal mortality into alignment with other HICs. · U.S. MMRs are double that of other HICs.. · Black MMRs are two to three times higher than White MMRs.. · \"Maternity care deserts\" show a marked increase in maternal mortality.. · Listed strategies have shown success in reversing these trends..</p>","PeriodicalId":7584,"journal":{"name":"American journal of perinatology","volume":" ","pages":"1109-1118"},"PeriodicalIF":1.5,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142399125","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exhaled Breath Volatile Organic Compounds in Pregnancy: A Pilot Study.","authors":"Mohsen A A Farghaly, Somaya Abuelazm, Ruth M Farrell, Marwa M Elgendy, David Grove, Jalal M Abu-Shaweesh, Raed A Dweik, Hany Aly","doi":"10.1055/a-2463-5352","DOIUrl":"10.1055/a-2463-5352","url":null,"abstract":"<p><p>This study aimed to assess the volatile organic compounds (VOC)s in breath samples collected noninvasively from pregnant women during pregnancy and postpartum and compare it with nonpregnant controls.This pilot study included 50 subjects: 10 pregnant patients in their first trimester, 10 in second trimester, 10 in third trimester, 10 in the first postpartum week, and 10 nonpregnant subjects as a control. We collected exhaled breath from subjects who reported to be healthy and free of any respiratory symptoms. Clinical and demographic data were collected. The samples were analyzed for VOCs using a selected-ion flow-tube mass spectrometer.The VOCs monitored were 22 compounds selected for their common presence in exhaled breath. During pregnancy and postpartum period, there were differences in five compounds mainly: 2-propanol, acrylonitrile, 1-nonene, 2-nonene, and hydrogen sulfide. Significant differences in VOCs were identified during each trimester compared with controls.VOCs could be measured safely and noninvasively in pregnant women. VOCs differed significantly among nonpregnant, pregnant women, and postpartum period. The utilization of this novel assay to identify fetal conditions or identifying women at risk of premature delivery, which should be further investigated in future studies. · This study demonstrated that VOCs could be measured noninvasively in exhaled breath of pregnant women.. · VOCs differed significantly among women who were nonpregnant, pregnant, and in postpartum period.. · These findings might serve as a base to look for potential markers for maternal or fetal conditions..</p>","PeriodicalId":7584,"journal":{"name":"American journal of perinatology","volume":" ","pages":"1162-1167"},"PeriodicalIF":1.5,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142612349","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unexpected Findings of Duchenne Muscular Dystrophy in Prenatal Screening of Chromosome Abnormality Based on Cell-Free Fetal DNA.","authors":"Ganye Zhao, Lina Liu, Panlai Shi, Mingxin Gu, Shaozhe Yang, Xiangdong Kong","doi":"10.1055/a-2459-8924","DOIUrl":"10.1055/a-2459-8924","url":null,"abstract":"<p><p>This study aims to assess the feasibility of detecting and diagnosing Duchenne muscular dystrophy (DMD) during prenatal screening for chromosome abnormalities using cell-free fetal DNA extracted from peripheral blood samples of pregnant women.Two pregnant women identified as high risk through noninvasive prenatal testing (NIPT) underwent amniocentesis to obtain fetal cells. Subsequent fetal chromosomal karyotyping was conducted, and genomic DNA from fetal cells was extracted for copy number variation sequencing (CNV-Seq) analysis, complemented by multiplex ligation-dependent probe amplification (MLPA) to detect deletions or duplications within the DMD gene.NIPT results for the two samples indicated potential abnormalities involving chromosomes 21 and 18. However, karyotype analysis of the fetuses revealed no abnormalities. CNV-Seq identified deletions of 0.28 and 0.18 Mb within chromosome Xp21.1, encompassing the DMD gene, in each fetus. In family 1, MLPA results indicated a maternal heterozygous deletion spanning exons 12 to 41 in the DMD gene, while the fetus exhibited deletions in exons 12 to 41. In family 2, MLPA results confirmed normal DMD gene status in the pregnant woman's peripheral blood genomic DNA but revealed a fetal deletion spanning exons 48 to 52. Both fetuses were diagnosed with DMD and subsequently underwent termination.Abnormalities identified through NIPT necessitate further invasive prenatal diagnostic procedures. For cases involving chromosomal microdeletions or microduplications, a combination of karyotyping and CNV-Seq testing is essential for comprehensive diagnosis. NIPT followed by CNV-Seq may offer insights into large exon deletions within the DMD gene in specific instances. · NIPT results can offer valuable insights into the deletion and duplication of DMD gene for the fetus.. · It's crucial to notice unexpected findings in NIPT.. · A combination of karyotyping and CNV-Seq testing is essential for comprehensive diagnosis..</p>","PeriodicalId":7584,"journal":{"name":"American journal of perinatology","volume":" ","pages":"1135-1140"},"PeriodicalIF":1.5,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142575127","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}