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Is ultrasound alone enough for prenatal screening of trisomy 18? A single centre experience in 69 cases over 10 years.
MedLine Citation:
PMID:  20925041     Owner:  NLM     Status:  In-Process    
Abstract/OtherAbstract:
OBJECTIVES: To evaluate ultrasound scan and other prenatal screening tests for trisomy 18 in a regional obstetric unit and to review the management approach for women with positive trisomy 18 screening results.
METHODS: Prenatal diagnosis databases were accessed to identify fetuses that had confirmed trisomy 18 karyotypes or were at high risk for trisomy 18 on second-trimester biochemical screening or first-trimester combined screening tests over a period of 10 years from 1 September 1997 to 30 September 2007.
RESULTS: Sixty-nine women were confirmed to have trisomy 18 fetuses by karyotyping either prenatally (n = 61) or postnatally/post-miscarriage (n = 8) during the study period. The detection rate of ultrasound scan ≤ 14 weeks and 18 to 21 weeks to detect trisomy 18 was 92.7 and 100%, respectively. A total of 80 and 87% of fetuses had two or more ultrasound abnormalities detected in the ≤ 14 weeks and 18 to 21 weeks anomaly scans, respectively. Forty-eight women screened positive for trisomy 18 by second-trimester biochemical screening with human chorionic gonadotrophin (hCG) and alpha fetoprotein (AFP). Only one was true positive (positive predictive value = 1/48 or 2%). Eleven women screened positive for trisomy 18 by first-trimester combined screening with nuchal translucency scan and maternal serum for pregnancy-associated plasma protein A (PAPP-A) and hCG between 11 and 13 + 6 weeks. Three were true positive (positive predictive value = 3/11 or 27%). All four cases with positive screening had ultrasound abnormalities.
CONCLUSIONS: Ultrasound scan for fetal anomalies is the most effective screening test for trisomy 18. A policy of conservative management for women with positive second-trimester biochemical screening or first-trimester combined screening for trisomy 18 is reasonable in the absence of ultrasound fetal abnormalities. Unnecessary invasive tests can be avoided.
Authors:
S Lai; W L Lau; W C Leung; F K Lai; R Chin
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  30     ISSN:  1097-0223     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2010 Nov 
Date Detail:
Created Date:  2010-10-29     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  1094-9     Citation Subset:  IM    
Affiliation:
Prenatal Diagnosis and Counselling Clinic, Department of Obstetrics and Gynaecology, Kwong Wah Hospital, Kowloon, HKSAR, China. soniawml@hotmail.com
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