Combined first trimester screen or noninvasive prenatal testing or both

Combined first trimester screen or noninvasive prenatal testing or both.

First-trimester or second-trimester screening, or both, for Down's syndrome.

BACKGROUND It is uncertain how best to screen pregnant women for the presence of fetal Down's syndrome: to perform first-trimester screening, to perform second-trimester screening, or to use strategies incorporating measurements in both trimesters. METHODS Women with singleton pregnancies underwent first-trimester combined screening (measurement of nuchal translucency, pregnancy-associated pl...

Rapid Aneuploidy Testing, Traditional Karyotyping, or Both, in Prenatal Diagnosis

HKJGOM 2005; 5 (1) 33 Introduction The most frequent foetal chromosomal abnormalities involve the autosomes 21, 18, 13 and sex chromosomes X and Y. Aneuploidy or alterations in copy number of these chromosomes, including Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), Trisomy 13 (Patau syndrome), 45,X (Turner syndrome), 47,XXY (Klinefelter syndrome) and Triploidy (presence of 3 copie...

Screening for Chromosomal Abnormalities by First Trimester Combined Screening and Noninvasive Prenatal Testing Screening auf Chromosomenstörungen mittels Ersttrimester-Screening und non-invasive prenatal Testing

Purpose: To examine combined first trimester screening (FTS), noninvasive prenatal testing (NIPT) and a two-step policy that combines FTS and NIPT in screening for aneuploidy. Materials and Methods: Retrospective study involving 21052 pregnancies where FTS was performed at the Praxis Praenatal.de in Duesseldorf, Germany. In each case, the sum risk of trisomy 21, 18 and 13 was computed. We assum...

Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population.

OBJECTIVE We sought to assess performance of noninvasive prenatal testing for fetal trisomy in a routinely screened first-trimester pregnancy population. STUDY DESIGN This was a cohort study of 2049 pregnant women undergoing routine screening for aneuploidies at 11-13 weeks' gestation. Plasma cell-free DNA analysis using chromosome-selective sequencing was used. Laboratory testing on a single...