{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T11:52:52Z","timestamp":1777290772446,"version":"3.51.4"},"reference-count":16,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2014,1,21]],"date-time":"2014-01-21T00:00:00Z","timestamp":1390262400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Little is known about women\u2019s comparative attitudes towards prenatal testing for different categories of genetic disorders. We interviewed women who delivered healthy infants within the past year and assessed attitudes towards prenatal screening and diagnostic testing, as well as pregnancy termination, for Down syndrome (DS), fragile X (FraX), cystic fibrosis (CF), spinal muscular atrophy (SMA), phenylketonuria (PKU) and congenital heart defects (CHD). Ninety-five women aged 21 to 48 years participated, of whom 60% were Caucasian, 23% Asian, 10% Latina and 7% African American; 82% were college graduates. Ninety-five to ninety-eight percent indicated that they would have screening for each condition, and the majority would have amniocentesis (64% for PKU to 72% for SMA). Inclinations regarding pregnancy termination varied by condition: Whereas only 10% reported they would probably or definitely terminate a pregnancy for CHD,  41% indicated they would do so for DS and 62% for SMA. Most women in this cohort reported that they would undergo screening for all six conditions presented, the majority without the intent to terminate an affected pregnancy. These women were least inclined to terminate treatable disorders (PKU, CHD) versus those associated with intellectual disability (DS, FraX) and were most likely to terminate for SMA, typically lethal  in childhood.<\/jats:p>","DOI":"10.3390\/jcm3010144","type":"journal-article","created":{"date-parts":[[2014,1,21]],"date-time":"2014-01-21T11:55:07Z","timestamp":1390305307000},"page":"144-152","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Women\u2019s Attitudes Regarding Prenatal Testing for a Range of Congenital Disorders of Varying Severity"],"prefix":"10.3390","volume":"3","author":[{"given":"Mary","family":"Norton","sequence":"first","affiliation":[{"name":"Department of Obstetrics, Gynecology and Reproductive Sciences, University of California,  350 Parnassus Ave, Suite 810, San Francisco, CA 94143-0705, USA"},{"name":"Kaiser Permanente, San Francisco, CA 94143, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanae","family":"Nakagawa","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Gynecology and Reproductive Sciences, University of California,  350 Parnassus Ave, Suite 810, San Francisco, CA 94143-0705, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miriam","family":"Kuppermann","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Gynecology and Reproductive Sciences, University of California,  350 Parnassus Ave, Suite 810, San Francisco, CA 94143-0705, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2014,1,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"ACOG Committee on Practice Bulletins (2007). ACOG Practice Bulletin No. 77: Screening for fetal chromosomal abnormalities. Obstet. Gynecol., 109, 217\u2013227.","DOI":"10.1097\/00006250-200701000-00054"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/S0020-7292(03)00390-4","article-title":"ACOG practice bulletin No 44: Neural tube defects","volume":"83","author":"Cheschier","year":"2003","journal-title":"Int. J. Gynaecol. Obstet."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"American College of Obstetricians and Gynecologists Committee on Genetics (2011). ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. Obstet. Gynecol., 117, 1028\u20131031.","DOI":"10.1097\/AOG.0b013e31821922c2"},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"ACOG Committee on Obstetrics (2007). ACOG Practice Bulletin No. 78: Hemoglobinopathies in pregnancy. Obstet. Gynecol., 109, 229\u2013237.","DOI":"10.1097\/00006250-200701000-00055"},{"key":"ref_5","unstructured":"Cuckle, H.S., and Wald, N.J. (1984). Antenatal and Neonatal Screening, Oxford University Press."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1968","DOI":"10.1016\/j.socscimed.2012.01.041","article-title":"Decision aid tools to support women\u2019s decision making in pregnancy and birth: A systematic review and meta-analysis","volume":"74","author":"Dugas","year":"2012","journal-title":"Soc. Sci. Med."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"2356","DOI":"10.1001\/jama.282.24.2356","article-title":"Involving patients in medical decisions: How can physicians do better?","volume":"282","author":"Barry","year":"1999","journal-title":"JAMA"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1001\/jama.300.4.436","article-title":"The next step in guideline development: Incorporating patient preferences","volume":"300","author":"Krahn","year":"2008","journal-title":"JAMA"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1002\/pd.1462","article-title":"Variation in the decision to terminate pregnancy in the setting of fetal aneuploidy","volume":"26","author":"Shaffer","year":"2006","journal-title":"Prenat. Diagn."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1097\/01.AOG.0000142718.53380.8f","article-title":"Trends in congenital malformations, 1974\u20131999: Effect of prenatal diagnosis and elective termination","volume":"104","author":"Peller","year":"2004","journal-title":"Obstet. Gynecol."},{"key":"ref_11","first-page":"216","article-title":"Decision-making for termination of pregnancies with fetal anomalies: Analysis of 53,000 pregnancies","volume":"99","author":"Schechtman","year":"2002","journal-title":"Obstet. Gynecol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1002\/ajmg.1320440124","article-title":"Reproductive decision making of aunts and uncles of a child with cystic fibrosis: Genetic risk perception and attitudes toward carrier identification and prenatal diagnosis","volume":"44","author":"Denayer","year":"1992","journal-title":"Am. J. Med. Genet."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/1097-0223(200101)21:1<1::AID-PD967>3.0.CO;2-#","article-title":"Attitudes towards reproductive issues and carrier testing among adult patients and parents of children with cystic fibrosis (CF)","volume":"21","author":"Henneman","year":"2001","journal-title":"Prenat. Diagn."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1007\/s10897-008-9199-3","article-title":"Consumers\u2019 desire towards current and prospective reproductive genetic testing","volume":"18","author":"Hathaway","year":"2009","journal-title":"J. Genet. Couns."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1016\/j.bpobgyn.2012.04.001","article-title":"Reproductive decisions after fetal genetic counseling","volume":"26","author":"Pergament","year":"2012","journal-title":"Best Pract. Res. Clin. Obstet. Gynaecol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3310\/hta8330","article-title":"Psychosocial aspects of genetic screening of pregnant women and newborns: A systematic review","volume":"8","author":"Green","year":"2004","journal-title":"Health Technol. Assess."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/3\/1\/144\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T21:07:31Z","timestamp":1760216851000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/3\/1\/144"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,1,21]]},"references-count":16,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2014,3]]}},"alternative-id":["jcm3010144"],"URL":"https:\/\/doi.org\/10.3390\/jcm3010144","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,1,21]]}}}