Fetuses with Down syndrome have an enlarged anterior fontanelle in the second trimester of pregnancy

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...

Isolated sonographic markers for detection of fetal Down syndrome in the second trimester of pregnancy.

OBJECTIVE To determine whether sonographic "markers" are associated with fetal Down syndrome during the second trimester and to estimate the degree of risk of individual markers using likelihood ratios. METHODS Second-trimester (14-20 weeks) sonographic findings in 186 fetuses with trisomy 21 were compared with a control group of 8728 consecutive control fetuses. Six markers were evaluated: n...

Systematic review and meta-analysis of performance of second-trimester nasal bone assessment in detection of fetuses with Down syndrome.

OBJECTIVE To review systematically the literature on diagnostic tests and performance of second-trimester sonographic assessment of nasal bone (NB) in identifying fetuses affected by Down syndrome. METHODS A search of studies involving screening tests for NB evaluation and measurements was carried out in the main international bibliographic databases (MEDLINE, EMBASE and CINAHL). Those consid...

Catastrophic antiphospholipid syndrome in the second trimester of pregnancy.

Absence of nasal bone in fetuses with trisomy 21 at second trimester of pregnancy

Objectives: To investigate the value of second-trimester ultrasound assessment of fetal nasal bone (NB) in predicting trisomy 21. Methods: A retrospective analysis was performed on the test results of pregnant women who received amniocentesis besides their anomaly scan due to various reasons at the Prenatal Diagnosis Center of Fudan University Obstetrics & Gynecology Hospital from January 2012 ...