N L Vora1, S Robinson2, E E Hardisty1, D M Stamilio1. 1. Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. 2. School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Abstract
OBJECTIVE: To estimate the frequency of unexpected first-trimester ultrasound findings that would alter prenatal management in pregnant women eligible for cell-free (cf) DNA screening because of advanced maternal age (AMA). METHODS: This was a retrospective cohort study of all AMA women at a tertiary care center who had a 10-14-week ultrasound examination between 1 January 2012 and 27 April 2015. Information on pregnancy dating, obstetric ultrasound examination, prenatal screening and genetic testing were collected from a perinatal database. The primary outcome was an unexpected ultrasound finding in the first trimester that would alter the prenatal screening/testing strategy. RESULTS: In total, 2337 women met the inclusion criteria, with a total of 2462 fetuses. Sixty-eight (2.9%) women had an anomalous fetus, of which 44 (64.7%) had diagnostic testing. In the entire cohort, a non-viable pregnancy was identified in 153 (6.5%) women. Multiple gestation was identified in 32 (1.4%) women; five had a cotwin demise. Gestational dating was revised for 126 (5.4%) women. Among those who opted for aneuploidy screening (n = 1806), 68.5% had cfDNA screening and 31.5% had first-trimester screening by analysis of maternal serum biomarkers and nuchal translucency thickness. Among those eligible for cfDNA screening, 16.1% (95% CI, 15.0-18.0%; 377/2337) had an ultrasound finding (anomaly, incorrect dating, multiple gestation, non-viable pregnancy) at the time of testing that would have altered the provider's counseling regarding the prenatal screening/testing strategy. CONCLUSIONS: A substantial proportion of AMA women eligible for cfDNA screening have fetal ultrasound findings that could alter genetic testing strategy and clinical management. This study recommends ultrasound examination prior to cfDNA screening in AMA women.
OBJECTIVE: To estimate the frequency of unexpected first-trimester ultrasound findings that would alter prenatal management in pregnant women eligible for cell-free (cf) DNA screening because of advanced maternal age (AMA). METHODS: This was a retrospective cohort study of all AMA women at a tertiary care center who had a 10-14-week ultrasound examination between 1 January 2012 and 27 April 2015. Information on pregnancy dating, obstetric ultrasound examination, prenatal screening and genetic testing were collected from a perinatal database. The primary outcome was an unexpected ultrasound finding in the first trimester that would alter the prenatal screening/testing strategy. RESULTS: In total, 2337 women met the inclusion criteria, with a total of 2462 fetuses. Sixty-eight (2.9%) women had an anomalous fetus, of which 44 (64.7%) had diagnostic testing. In the entire cohort, a non-viable pregnancy was identified in 153 (6.5%) women. Multiple gestation was identified in 32 (1.4%) women; five had a cotwin demise. Gestational dating was revised for 126 (5.4%) women. Among those who opted for aneuploidy screening (n = 1806), 68.5% had cfDNA screening and 31.5% had first-trimester screening by analysis of maternal serum biomarkers and nuchal translucency thickness. Among those eligible for cfDNA screening, 16.1% (95% CI, 15.0-18.0%; 377/2337) had an ultrasound finding (anomaly, incorrect dating, multiple gestation, non-viable pregnancy) at the time of testing that would have altered the provider's counseling regarding the prenatal screening/testing strategy. CONCLUSIONS: A substantial proportion of AMA women eligible for cfDNA screening have fetal ultrasound findings that could alter genetic testing strategy and clinical management. This study recommends ultrasound examination prior to cfDNA screening in AMA women.
Authors: Jacob A Canick; Edward M Kloza; Geralyn M Lambert-Messerlian; James E Haddow; Mathias Ehrich; Dirk van den Boom; Allan T Bombard; Cosmin Deciu; Glenn E Palomaki Journal: Prenat Diagn Date: 2012-05-14 Impact factor: 3.050
Authors: Sebastian Larion; Steven L Warsof; Letty Romary; Margaret Mlynarczyk; David Peleg; Alfred Z Abuhamad Journal: J Ultrasound Med Date: 2015-08 Impact factor: 2.153
Authors: Diana W Bianchi; R Lamar Parker; Jeffrey Wentworth; Rajeevi Madankumar; Craig Saffer; Anita F Das; Joseph A Craig; Darya I Chudova; Patricia L Devers; Keith W Jones; Kelly Oliver; Richard P Rava; Amy J Sehnert Journal: N Engl J Med Date: 2014-02-27 Impact factor: 91.245
Authors: Ronald J Wapner; Christa Lese Martin; Brynn Levy; Blake C Ballif; Christine M Eng; Julia M Zachary; Melissa Savage; Lawrence D Platt; Daniel Saltzman; William A Grobman; Susan Klugman; Thomas Scholl; Joe Leigh Simpson; Kimberly McCall; Vimla S Aggarwal; Brian Bunke; Odelia Nahum; Ankita Patel; Allen N Lamb; Elizabeth A Thom; Arthur L Beaudet; David H Ledbetter; Lisa G Shaffer; Laird Jackson Journal: N Engl J Med Date: 2012-12-06 Impact factor: 91.245