Second-trimester genetic sonography in patients with advanced maternal age and normal triple screen

OBJECTIVE: To estimate the value of second-trimester genetic sonography in detecting fetal Down syndrome in patients with advanced maternal age (at least 35 years) and normal triple screen. METHODS: Since July 1999, a prospective collection and recording of all individual triple screen risks for fet...

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Veröffentlicht in:Obstetrics and gynecology (New York. 1953) 2002-06, Vol.99 (6), p.993-995
Hauptverfasser: Vintzileos, Anthony M, Guzman, Edwin R, Smulian, John C, Yeo, Lami, Scorza, William E, Knuppel, Robert A
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container_issue 6
container_start_page 993
container_title Obstetrics and gynecology (New York. 1953)
container_volume 99
creator Vintzileos, Anthony M
Guzman, Edwin R
Smulian, John C
Yeo, Lami
Scorza, William E
Knuppel, Robert A
description OBJECTIVE: To estimate the value of second-trimester genetic sonography in detecting fetal Down syndrome in patients with advanced maternal age (at least 35 years) and normal triple screen. METHODS: Since July 1999, a prospective collection and recording of all individual triple screen risks for fetal Down syndrome was initiated for all patients with advanced maternal age presenting in our ultrasound unit for second-trimester genetic sonography. Genetic sonography evaluated the presence or absence of multiple aneuploidy markers. Outcome information included the results of genetic amniocentesis, if performed, and the results of pediatric assessment and follow-up after birth. RESULTS: By June 2001, 959 patients with advanced maternal age and normal triple screen were identified. Outcome information was obtained in 768 patients. The median risk for fetal Down syndrome based on maternal age was 1:213 (range 1:37–1:274). The median risk for fetal Down syndrome based on triple screen results was 1:1069 (range 1:275–1:40,000). A total of 673 patients had normal genetic sonography, and none (0%) had Down syndrome; 95 had one or more aneuploidy markers present, and four (4.2%) had fetuses with Down syndrome. The triple screen risks for these four fetuses ranged from 1:319 to 1:833. CONCLUSION: This study suggests that patients with advanced maternal age and normal genetic sonography carried very little risk for Down syndrome. The use of genetic sonography may increase the detection rate of fetal Down syndrome in this group of pregnant women.
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METHODS: Since July 1999, a prospective collection and recording of all individual triple screen risks for fetal Down syndrome was initiated for all patients with advanced maternal age presenting in our ultrasound unit for second-trimester genetic sonography. Genetic sonography evaluated the presence or absence of multiple aneuploidy markers. Outcome information included the results of genetic amniocentesis, if performed, and the results of pediatric assessment and follow-up after birth. RESULTS: By June 2001, 959 patients with advanced maternal age and normal triple screen were identified. Outcome information was obtained in 768 patients. The median risk for fetal Down syndrome based on maternal age was 1:213 (range 1:37–1:274). The median risk for fetal Down syndrome based on triple screen results was 1:1069 (range 1:275–1:40,000). A total of 673 patients had normal genetic sonography, and none (0%) had Down syndrome; 95 had one or more aneuploidy markers present, and four (4.2%) had fetuses with Down syndrome. The triple screen risks for these four fetuses ranged from 1:319 to 1:833. CONCLUSION: This study suggests that patients with advanced maternal age and normal genetic sonography carried very little risk for Down syndrome. The use of genetic sonography may increase the detection rate of fetal Down syndrome in this group of pregnant women.</description><identifier>ISSN: 0029-7844</identifier><identifier>EISSN: 1873-233X</identifier><identifier>DOI: 10.1016/S0029-7844(02)02004-5</identifier><identifier>PMID: 12052588</identifier><identifier>CODEN: OBGNAS</identifier><language>eng</language><publisher>New York, NY: Elsevier Inc</publisher><subject>Adult ; Biological and medical sciences ; Down Syndrome - diagnostic imaging ; Female ; Genetic Testing - methods ; Gynecology. Andrology. Obstetrics ; Humans ; Management. Prenatal diagnosis ; Maternal Age ; Medical sciences ; Middle Aged ; New Jersey ; Outcome Assessment (Health Care) ; Predictive Value of Tests ; Pregnancy ; Pregnancy Trimester, Second ; Pregnancy, High-Risk ; Pregnancy. Fetus. 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METHODS: Since July 1999, a prospective collection and recording of all individual triple screen risks for fetal Down syndrome was initiated for all patients with advanced maternal age presenting in our ultrasound unit for second-trimester genetic sonography. Genetic sonography evaluated the presence or absence of multiple aneuploidy markers. Outcome information included the results of genetic amniocentesis, if performed, and the results of pediatric assessment and follow-up after birth. RESULTS: By June 2001, 959 patients with advanced maternal age and normal triple screen were identified. Outcome information was obtained in 768 patients. The median risk for fetal Down syndrome based on maternal age was 1:213 (range 1:37–1:274). The median risk for fetal Down syndrome based on triple screen results was 1:1069 (range 1:275–1:40,000). A total of 673 patients had normal genetic sonography, and none (0%) had Down syndrome; 95 had one or more aneuploidy markers present, and four (4.2%) had fetuses with Down syndrome. The triple screen risks for these four fetuses ranged from 1:319 to 1:833. CONCLUSION: This study suggests that patients with advanced maternal age and normal genetic sonography carried very little risk for Down syndrome. The use of genetic sonography may increase the detection rate of fetal Down syndrome in this group of pregnant women.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Down Syndrome - diagnostic imaging</subject><subject>Female</subject><subject>Genetic Testing - methods</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>Management. Prenatal diagnosis</subject><subject>Maternal Age</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>New Jersey</subject><subject>Outcome Assessment (Health Care)</subject><subject>Predictive Value of Tests</subject><subject>Pregnancy</subject><subject>Pregnancy Trimester, Second</subject><subject>Pregnancy, High-Risk</subject><subject>Pregnancy. Fetus. 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Andrology. Obstetrics</topic><topic>Humans</topic><topic>Management. Prenatal diagnosis</topic><topic>Maternal Age</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>New Jersey</topic><topic>Outcome Assessment (Health Care)</topic><topic>Predictive Value of Tests</topic><topic>Pregnancy</topic><topic>Pregnancy Trimester, Second</topic><topic>Pregnancy, High-Risk</topic><topic>Pregnancy. Fetus. 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subjects Adult
Biological and medical sciences
Down Syndrome - diagnostic imaging
Female
Genetic Testing - methods
Gynecology. Andrology. Obstetrics
Humans
Management. Prenatal diagnosis
Maternal Age
Medical sciences
Middle Aged
New Jersey
Outcome Assessment (Health Care)
Predictive Value of Tests
Pregnancy
Pregnancy Trimester, Second
Pregnancy, High-Risk
Pregnancy. Fetus. Placenta
Prospective Studies
Ultrasonography, Prenatal - standards
title Second-trimester genetic sonography in patients with advanced maternal age and normal triple screen
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