First trimester diagnosis and screening for fetal aneuploidy
نویسندگان
چکیده
منابع مشابه
Aneuploidy screening in the first trimester.
This article reviews the performance of first trimester screening for chromosomal anomalies using various combinations of ultrasound and maternal serum biochemical modalities. Detection rates in excess of 90% can be routinely achieved for Trisomy 21, Trisomy 13, Trisomy 18 using a combination of fetal nuchal translucency (NT) thickness and maternal serum free ss-hCG and PAPP-A at 11 + 0 to 13 +...
متن کاملScreening for Fetal Aneuploidy
Aneuploidy is defined as having one or more extra or missing chromosomes, leading to an unbalanced chromosome number in a cell. Because each chromosome consists of hundreds of genes, the loss or gain of large chromosomal segments disrupts significant amounts of genetic material and often results in a nonviable pregnancy or offspring that may not survive after birth. In the case of a surviving n...
متن کاملFirst trimester ultrasonography in screening and detection of fetal anomalies.
An obstetrical ultrasound examination provides invaluable information regarding the fetus. Until the mid-1980s, ultrasound in the first trimester was limited to localization of the pregnancy, establishing viability, and accurate dating. With the advent of high-resolution ultrasound and transvaginal scanning, a significant amount of information about the fetus can be gained and provided to the p...
متن کاملFirst-trimester ultrasound and biochemical markers of aneuploidy and the prediction of impending fetal death.
OBJECTIVES To examine the clinical utility of the first-trimester markers of aneuploidy in their ability to predict future fetal loss. METHODS We examined 54,722 singleton pregnancies with no chromosomal abnormality and with complete outcome data that had undergone screening for trisomy 21 by a combination of fetal nuchal translucency (NT) thickness, maternal serum free beta-human chorionic g...
متن کاملFirst Trimester Aneuploidy Screening Program for Preeclampsia Prediction in a Portuguese Obstetric Population
Objective. To evaluate the performance of a first trimester aneuploidy screening program for preeclampsia (PE) prediction in a Portuguese obstetric population, when performed under routine clinical conditions. Materials and Methods. Retrospective cohort study of 5672 pregnant women who underwent routine first trimester aneuploidy screening in a Portuguese university hospital from January 2009 t...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2008
ISSN: 1098-3600,1530-0366
DOI: 10.1097/gim.0b013e31815efde8