Prenatal diagnosis in the modern era

Abstract

It may be possible to define pregnancy complication risk in the first trimester by combining biochemical and biophysical markers with obstetric history. This could allow antenatal care to be personalised, with patient and complication-specific content. Molecular genetic testing, by both invasive and noninvasive means, can offer examination of the whole genome or exome. Noninvasive prenatal testing (NIPT) using cell-free fetal DNA in the maternal circulation can offer screening and diagnosis of aneuploidy and single gene defects. Ultrasound can be enhanced by magnetic resonance imaging to provide imaging that is not limited by fetal and maternal characteristics, and can be used to assist preoperative planning for fetal surgery. Learning objectivesTo understand how pregnancy care can evolve with NIPT and a more detailed first trimester assessment. To understand how NIPT is undertaken, its capabilities and current limitations. Ethical issuesWith increasingly detailed cytogenetic testing there is a need to provide families with sufficient pre-and post-test counselling, as well as consider the ramifications for them and the fetus.Linked resource: Single best answer questions are available for this article at https

Women’s worries about prenatal screening tests suspected of fetal anomalies: a qualitative study

“…Based on WHO, one-fifth to two-fifths of infant mortality is attributed to congenital anomalies [ 1 ]. Over the recent decades, prenatal screening for the diagnosis of fetal anomalies has been offered as an option for all pregnant women during prenatal care visits [ 2 ]. In Iran, approximately 98% of women undergo ultrasound screening at 18 weeks of gestation [ 3 ].…”