Premium
OP01.02: NIPS for high‐BMI patients: evaluating the impact of deep whole‐genome sequencing on sensitivity and residual risk
Author(s) -
Haverty C.E.,
D'Auria K.M.,
Haas K.R.,
Kang H.P.,
Evans E.A.,
Goldberg J.D.,
Muzzey D.
Publication year - 2018
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1002/uog.19392
Subject(s) - medicine , body mass index , obesity , aneuploidy , trisomy , obstetrics , gestational age , gynecology , pregnancy , genetics , chromosome , gene , biology
Objectives: To assess the impact of introducing NIPS into routine care, using two different approaches, on timing of first ultrasound in pregnancy and rate of genetic diagnostic procedures. Methods: Retrospective study of all screening tests for aneuploidy done in a tertiary academic institution between 1/2010-3/2018. Three different screening protocols were used: 1) 1/2010 11/2014 all women were offered first trimester screening (FTS); 2) 12/2014 4/2016, all offered FTS and NIPS; 3) 5/2016-3/2018 all offered FTS or genetic counselling and NIPS. Rates of FTS, NIPS, performance of any scan in first trimester, amniocentesis, chorionic villous sampling and NT scans offered to those who elected NIPS were compared between the three periods. Mann–Whitney, Kruskal-Wallis and Chi-square tests were utilised as indicated. Results: The number of FTS per month remained unchanged after adding NIPS in 2014 but significantly decreased after patients had to choose between NIPS and FTS (p<0.001). Using the 3rd protocol, fewer had NIPS (115 vs 365, p<0.001) or any type of screen (273 vs 365, p<0.001). On average, 7320 new patients were seen annually in our centre. In the first period, 6708 (91.6%) had ultrasound in 1st trimester. This dropped to 6168 (84.2%) in the second period and to 4932 (67.3%) in the recent period (p<0.001). Both diagnostic procedures decreased significantly after the introduction of NIPS (p<0.001). The number of NT scans offered to patients choosing only NIPS also decreased over time (46 vs 16, p<0.001). Conclusions: After the introduction of NIPS as an alternative to FTS, fewer women had their first prenatal ultrasound in the first trimester and fewer underwent diagnostic testing.