| First-trimester genetic diagnosis: a series of six cases. | |
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MedLine Citation:
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PMID: 20301870 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A first-trimester screen consists of a nuchal translucency (NT) ultrasound measurement as well as maternal serum testing for pregnancy-associated plasma protein-A (PAPP-A) and human chorionic gonadotropin (hCG). An increased nuchal translucency (NT) thickness at 11 to 14 weeks gestational age is a common finding for Down syndrome, Trisomy 18 and cardiac defects. We present a series of six patients, four with NT measurements greater than the 95th centile, and two additional cases where the NT was normal, but maternal serum biochemical markers were unusual. All six of these cases had a chromosome anomaly or another genetic condition: Noonan syndrome, triploidy, Down syndrome, Trisomy 18, Turner syndrome and a rare chromosome abnormality known as Ring 18-Monosomy 18. Our series underlines the fact that it is important to explore other genetic and chromosome abnormalities, in addition to Down syndrome and Trisomy 18, when there is an abnormality on a first-trimester screen. |
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Authors:
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Quinn P Stein; Jason D Flanagan; Siri Knutsen-Larson; Peter Van Eerden |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: South Dakota medicine : the journal of the South Dakota State Medical Association Volume: 63 ISSN: 0038-3317 ISO Abbreviation: S D Med Publication Date: 2010 Mar |
Date Detail:
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Created Date: 2010-03-22 Completed Date: 2010-05-13 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101265265 Medline TA: S D Med Country: United States |
Other Details:
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Languages: eng Pagination: 83-5 Citation Subset: IM |
Affiliation:
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Sanford Women's Health & Sanford Children's Specialty Clinic, Sioux Falls, SD, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Amniocentesis Biological Markers / blood Chorionic Gonadotropin / blood Chorionic Villi Sampling Chromosome Disorders / blood, diagnosis* Female Humans Nuchal Translucency Measurement* Pregnancy Pregnancy Trimester, First* Pregnancy-Associated Plasma Protein-A / analysis Young Adult |
| Chemical | |
Reg. No./Substance:
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0/Biological Markers; 0/Chorionic Gonadotropin; EC 3.4.24.-/Pregnancy-Associated Plasma Protein-A |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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