Michelle Joy Wang, Maria Bazan, Davia Schioppo, Karen Marchand, Millie A Ferrés, Yinka Oyelese, Barbara O'Brien
{"title":"无创产前检查结果、颈部半透明大小和妊娠中期分辨率改变妊娠早期囊性水肿的预后。","authors":"Michelle Joy Wang, Maria Bazan, Davia Schioppo, Karen Marchand, Millie A Ferrés, Yinka Oyelese, Barbara O'Brien","doi":"10.1002/pd.6791","DOIUrl":null,"url":null,"abstract":"<p><strong>Objectives: </strong>The aim of our study was to describe outcomes of fetuses with cystic hygromas (CH) based on results of non-invasive prenatal testing (NIPT), nuchal translucency (NT) size, and spontaneous hygroma regression.</p><p><strong>Methods: </strong>This was a retrospective cohort study of all patients with a CH diagnosed on first trimester ultrasound at our institution over a 9-year period. The primary outcomes were pathogenic genetic abnormalities, structural malformations and perinatal loss. Secondary outcomes included pregnancy termination, live birth, and a composite of primary outcomes.</p><p><strong>Results: </strong>Of 294 fetuses with CH, 184 (64%) had a genetic abnormality, and among the fetuses with no known genetic diagnosis, 26 (25%) had at least one structural anomaly. Low risk NIPT result was associated with a 19% (13/71) residual risk of aneuploidy, copy number variant, or other pathogenic genetic finding and the frequency of all adverse outcomes rose with increasing NT size. Finally, of 31 cases of expectantly managed CH cases that resolved in the second trimester, only 4 (13%) had a genetic abnormality.</p><p><strong>Conclusion: </strong>NIPT results, nuchal translucency size, and early resolution are modifiers in the outcomes associated with CH in the first trimester.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7000,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Non-Invasive Prenatal Testing Results, Nuchal Translucency Size, and Second Trimester Resolution Modify First Trimester Cystic Hygroma Outcomes.\",\"authors\":\"Michelle Joy Wang, Maria Bazan, Davia Schioppo, Karen Marchand, Millie A Ferrés, Yinka Oyelese, Barbara O'Brien\",\"doi\":\"10.1002/pd.6791\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objectives: </strong>The aim of our study was to describe outcomes of fetuses with cystic hygromas (CH) based on results of non-invasive prenatal testing (NIPT), nuchal translucency (NT) size, and spontaneous hygroma regression.</p><p><strong>Methods: </strong>This was a retrospective cohort study of all patients with a CH diagnosed on first trimester ultrasound at our institution over a 9-year period. The primary outcomes were pathogenic genetic abnormalities, structural malformations and perinatal loss. Secondary outcomes included pregnancy termination, live birth, and a composite of primary outcomes.</p><p><strong>Results: </strong>Of 294 fetuses with CH, 184 (64%) had a genetic abnormality, and among the fetuses with no known genetic diagnosis, 26 (25%) had at least one structural anomaly. Low risk NIPT result was associated with a 19% (13/71) residual risk of aneuploidy, copy number variant, or other pathogenic genetic finding and the frequency of all adverse outcomes rose with increasing NT size. Finally, of 31 cases of expectantly managed CH cases that resolved in the second trimester, only 4 (13%) had a genetic abnormality.</p><p><strong>Conclusion: </strong>NIPT results, nuchal translucency size, and early resolution are modifiers in the outcomes associated with CH in the first trimester.</p>\",\"PeriodicalId\":20387,\"journal\":{\"name\":\"Prenatal Diagnosis\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.7000,\"publicationDate\":\"2025-04-02\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Prenatal Diagnosis\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1002/pd.6791\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Prenatal Diagnosis","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/pd.6791","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Non-Invasive Prenatal Testing Results, Nuchal Translucency Size, and Second Trimester Resolution Modify First Trimester Cystic Hygroma Outcomes.
Objectives: The aim of our study was to describe outcomes of fetuses with cystic hygromas (CH) based on results of non-invasive prenatal testing (NIPT), nuchal translucency (NT) size, and spontaneous hygroma regression.
Methods: This was a retrospective cohort study of all patients with a CH diagnosed on first trimester ultrasound at our institution over a 9-year period. The primary outcomes were pathogenic genetic abnormalities, structural malformations and perinatal loss. Secondary outcomes included pregnancy termination, live birth, and a composite of primary outcomes.
Results: Of 294 fetuses with CH, 184 (64%) had a genetic abnormality, and among the fetuses with no known genetic diagnosis, 26 (25%) had at least one structural anomaly. Low risk NIPT result was associated with a 19% (13/71) residual risk of aneuploidy, copy number variant, or other pathogenic genetic finding and the frequency of all adverse outcomes rose with increasing NT size. Finally, of 31 cases of expectantly managed CH cases that resolved in the second trimester, only 4 (13%) had a genetic abnormality.
Conclusion: NIPT results, nuchal translucency size, and early resolution are modifiers in the outcomes associated with CH in the first trimester.
期刊介绍：
Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling
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