Genetic Screening for Aneuploidy in the Second-trimester

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 +...

I-61: Second Trimester Genetic Sonography

Second-trimester genetic sonography after first-trimester combined screening for trisomy 21.

OBJECTIVE The purpose of this study was to evaluate the trisomy 21 screening performance of the first-trimester combined test followed by second-trimester genetic sonography. METHODS This retrospective cohort study included all women with singleton pregnancies undergoing combined screening followed by genetic sonography at 17 to 21 weeks from January 1, 2005, to January 31, 2008. Combined tes...

Role of second-trimester genetic sonography after Down syndrome screening.

OBJECTIVE To estimate the effectiveness of second-trimester genetic sonography in modifying Down syndrome screening test results. METHODS The First and Second Trimester Evaluation of Risk (FASTER) aneuploidy screening trial participants were studied from 13 centers where a 15- to 23-week genetic sonogram was performed in the same center. Midtrimester Down syndrome risks were estimated for fiv...

Screening for Down syndrome in the second trimester of pregnancy.

Antenatal screening for fetal anomalies has provided women and their partners with information to make reproductive choices based on the risk of serious chromosomal or structural defects since the 1990s. Alternative tests include first-trimester screening (combined ultrasound and maternal serum markers), second-trimester maternal serum markers and noninvasive cell-free DNA testing. The recent r...