Screening for Down syndrome in the second trimester of pregnancy

Abstract

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 recommendations by the Royal Australian and New Zealand College of Obstetrics and Gynaecology and the Human Genetics Society of Australasia against second-trimester triple testing are based on unsound performance criteria, raise several contestable issues around access and equity and challenge the principles of governments providing affordable options.

Canadian genetic healthcare professionals’ attitudes towards discussing private pay options with patients

“…Noninvasive prenatal testing was the second most frequent private pay genetic test discussed. Canadian, American, and Australian practice guidelines recommend discussing NIPT with pregnant women in varying situations (Audibert et al, ; Gregg et al, ; O'Leary et al, ) but not all Canadian women who meet guideline criteria may be eligible for funded NIPT in their home province (Gekas et al, ; Vanstone, King, de Vrijer, & Nisker, ), which may lead to some GHPs feeling compelled to discuss the option for the patient to pay privately for the test. This was illustrated by one participant writing, “per SOGC guidelines, we present NIPT as an option whenever amniocentesis is being discussed (exceptions: if there are multiple congenital anomalies where microarray on amnio[centesis] may have a greater yield…).” Further, physicians are required to disclose all of the risks, benefits, and alternatives to tests or procedures being discussed (Toews & Caulfield, ), which may also lead a GHP to discuss NIPT despite it being unfunded in order to avoid a medico‐legal liability issue.…”

Do triple test results predict the risks for adverse pregnancy outcomes?

“…Son kılavuzlara göre, üçlü tarama testindeki serum belirteçlerine İnhibin A belirtecinin de eklendiği dörtlü tarama testinin, ikinci trimestır tarama testi olarak kullanılması önerilmektedir. Ancak dörtlü tarama testinin üçlü tarama testine göre üstünlüğünü gösteren kanıt sınırlıdır (4).…”