{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T18:04:15Z","timestamp":1784311455998,"version":"3.55.0"},"reference-count":57,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,12,4]],"date-time":"2019-12-04T00:00:00Z","timestamp":1575417600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To investigate the attitudes of parents of children with a sex chromosome aneuploidy (SCA) regarding the impact of an early diagnosis and noninvasive prenatal testing (NIPT).<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>A survey consisting of multiple choice and long response formatted questions was completed by parents of children with SCA(s).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Fifty\u2010five participants responded to the survey. A total of 88.1% of participants who received an early diagnosis expressed that it had a positive impact on their child's life. Of the 23 participants who utilized NIPT, 95.7% believed it was a decisive factor in their life because they could research the disorders prior to the birth of their child (35.3%), pinpoint valuable resources and interventions (38.2%), and determine possible risk factors of neurodevelopmental delays to be considered after delivery (20.6%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study documented parental perspectives on the impact of an early SCA diagnosis and attitudes towards NIPT use for identifying those at risk for SCAs. These informative and insightful results provide personal experiences that health care providers may want to consider when providing prenatal counseling on NIPT for expectant mothers. As this analysis is the first of its kind, ascertainment is limited, and future research should aim to expand these findings by investigating the different factors influencing attitudes towards NIPT.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.5580","type":"journal-article","created":{"date-parts":[[2019,10,29]],"date-time":"2019-10-29T16:25:23Z","timestamp":1572366323000},"page":"470-480","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Impact of early diagnosis and noninvasive prenatal testing (NIPT): Knowledge, attitudes, and experiences of parents of children with sex chromosome aneuploidies (SCAs)"],"prefix":"10.1002","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9941-0568","authenticated-orcid":false,"given":"Carole A.","family":"Samango\u2010Sprouse","sequence":"first","affiliation":[{"name":"Department of Pediatrics George Washington University Washington District of Columbia USA"},{"name":"Department of Human and Molecular Genetics Florida International University Miami Florida USA"},{"name":"The Focus Foundation Davidsonville Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grace F.","family":"Porter","sequence":"additional","affiliation":[{"name":"The Focus Foundation Davidsonville Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia C.","family":"Lasutschinkow","sequence":"additional","affiliation":[{"name":"The Focus Foundation Davidsonville Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Selena L.","family":"Tran","sequence":"additional","affiliation":[{"name":"The Focus Foundation Davidsonville Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Sadeghin","sequence":"additional","affiliation":[{"name":"The Focus Foundation Davidsonville Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2106-6776","authenticated-orcid":false,"given":"Andrea L.","family":"Gropman","sequence":"additional","affiliation":[{"name":"Department of Neurology George Washington University Washington District of Columbia"},{"name":"Division of Neurogenetics and Developmental Pediatrics, Children's National Hospital Washington District of Columbia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,12,4]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35709"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0161045"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1982.tb13586.x"},{"key":"e_1_2_10_5_1","first-page":"240","article-title":"Gross and fine motor development in 47,XXY and 47,XYY males","volume":"80","author":"Salblenblatt JA","year":"1987","journal-title":"Pediatr Dent"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00354965"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00001163-200207000-00004"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000095626.54201.D0"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31352"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2017.02.036"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2013.05.037"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36483"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31437"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61038"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199704)17:4<363::AID-PD79>3.0.CO;2-O"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-021491"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33334"},{"key":"e_1_2_10_18_1","first-page":"185","article-title":"Preliminary observations on language and learning in XXY boys","volume":"18","author":"Walzer S","year":"1982","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1159\/000087313"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-12-0934"},{"key":"e_1_2_10_21_1","first-page":"161","volume-title":"Sex Chromosome Abnormalities and Human Behavior: Psychological Studies","author":"Ratcliffe S","year":"1990"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1159\/000184157"},{"key":"e_1_2_10_23_1","first-page":"314","volume-title":"Chromosome Abnormalities and Genetic Counseling","author":"Gardner RM","year":"2004"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ddrr.76"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2011-0719"},{"key":"e_1_2_10_26_1","doi-asserted-by":"crossref","first-page":"1523","DOI":"10.1002\/ajmg.a.33307","article-title":"Clinical variability and novel neurodevelopmental findings in 49,XXXXY syndrome","volume":"152","author":"Gropman AL","year":"2010","journal-title":"Am J Med Genet Pt A"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-013-0995-x"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37198"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2011.02252.x"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31354"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.07.016"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1990.tb16980.x"},{"key":"e_1_2_10_33_1","first-page":"170","volume-title":"The importance of early diagnosis of Klinefelter's syndrome","author":"Nielsen J","year":"2009"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440319"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10394"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35769"},{"key":"e_1_2_10_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ogc.2017.02.004"},{"key":"e_1_2_10_38_1","doi-asserted-by":"publisher","DOI":"10.5402\/2011\/807106"},{"key":"e_1_2_10_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.3975"},{"key":"e_1_2_10_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970111203"},{"key":"e_1_2_10_41_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2702.2007.02023.x"},{"key":"e_1_2_10_42_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1369-7625.2009.00544.x"},{"key":"e_1_2_10_43_1","first-page":"395","article-title":"ACMG statement on noninvasive prenatal screening for fetal aneuploidy","volume":"15","author":"Gregg AR","year":"2013","journal-title":"Am C Genet Med"},{"key":"e_1_2_10_44_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000001406"},{"key":"e_1_2_10_45_1","first-page":"1056","article-title":"Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics","volume":"18","author":"Gregg AR","year":"2016","journal-title":"Am C Genet Med"},{"key":"e_1_2_10_46_1","unstructured":"NSGC Headquarters.Prenatal Cell\u2010Free DNA Screening. Position statement updated electronically2018."},{"key":"e_1_2_10_47_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5363"},{"key":"e_1_2_10_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pec.2013.08.006"},{"key":"e_1_2_10_49_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4063"},{"key":"e_1_2_10_50_1","doi-asserted-by":"publisher","DOI":"10.1038\/jp.2014.30"},{"key":"e_1_2_10_51_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4579"},{"key":"e_1_2_10_52_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0156088"},{"key":"e_1_2_10_53_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-016-0012-4"},{"key":"e_1_2_10_54_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7610.1978.tb00465.x"},{"key":"e_1_2_10_55_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-42"},{"key":"e_1_2_10_56_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4160"},{"key":"e_1_2_10_57_1","doi-asserted-by":"publisher","DOI":"10.1177\/0300060517695008"},{"key":"e_1_2_10_58_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5339"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.5580","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.5580","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/pd.5580","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.5580","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,25]],"date-time":"2024-07-25T22:26:56Z","timestamp":1721946416000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.5580"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,4]]},"references-count":57,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,3]]}},"alternative-id":["10.1002\/pd.5580"],"URL":"https:\/\/doi.org\/10.1002\/pd.5580","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,12,4]]},"assertion":[{"value":"2019-01-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-09-21","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-12-04","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}