Fetal fraction-based risk algorithm for non-invasive prenatal testing: screening for trisomies 13 and 18 and triploidy in women with low cell-free fetal DNA

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
T McKannaP Benn

Abstract

To identify pregnancies at increased risk for trisomy 13, trisomy 18 or triploidy attributable to low fetal fraction (FF). A FF-based risk (FFBR) model was built using data from more than 165 000 singleton pregnancies referred for single-nucleotide polymorphism (SNP)-based non-invasive prenatal testing (NIPT). Based on maternal weight and gestational age (GA), FF distributions for normal, trisomy 13, trisomy 18 and triploid pregnancies were constructed and used to adjust prior risks for these abnormalities. A risk cut-off of ≥ 1% was chosen to define pregnancies at high risk for trisomy 13, trisomy 18 or triploidy (high FFBR score). The model was evaluated on an independent blinded set of pregnancies for which SNP-based NIPT did not return a result, and for which pregnancy outcome information was gathered retrospectively. The evaluation cohort comprised 1148 cases, of which approximately half received a high FFBR score. Compared with rates expected based on maternal age (MA) and GA, cases with a high FFBR score had a significantly increased rate of trisomy 13, trisomy 18 or triploidy combined (5.7% vs 0.7%; P < 0.001) and also of unexplained pregnancy loss (14.7% vs 10.4%; P < 0.001). For cases that did not receive a high FFBR ...Continue Reading

References

Nov 1, 1995·Fetal Diagnosis and Therapy·R J SnijdersK H Nicolaides
Mar 1, 1997·American Journal of Obstetrics and Gynecology·E JauniauxK H Nicolaides
Apr 12, 2001·American Journal of Medical Genetics·I M HoesliW Holzgreve
Jun 7, 2005·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·P WegrzynK H Nicolaides
May 11, 2012·Fetal Diagnosis and Therapy·Ghalia AshoorKypros H Nicolaides
Sep 22, 2012·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·G AshoorK H Nicolaides
Mar 16, 2013·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·L EngelbrechtsenUNKNOWN Danish Fetal Medicine Study Group
Sep 21, 2013·Clinical Chemistry·Richard P RavaDiana W Bianchi
Oct 19, 2013·Fetal Diagnosis and Therapy·Kypros H NicolaidesYana Zinevich
Jul 9, 2014·Obstetrics and Gynecology·Eugene PergamentMatthew Rabinowitz
Oct 16, 2014·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·D WrightK H Nicolaides
Dec 3, 2014·American Journal of Obstetrics and Gynecology·Kirsten J CurnowSusan J Gross
Dec 3, 2014·Prenatal Diagnosis·G E PalomakiJ E Haddow
Mar 4, 2015·Clinical Biochemistry·Howard CuckleEugene Pergament
Apr 2, 2015·The New England Journal of Medicine·Mary E NortonRonald J Wapner
Sep 24, 2015·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·Susan J GrossPeter Benn
Jan 9, 2016·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·R RevelloK H Nicolaides
Mar 18, 2016·Journal of Human Genetics·Nobuhiro SuzumoriUNKNOWN Japan NIPT Consortium
Jul 29, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Anthony R GreggMichael S Watson
Feb 6, 2017·American Journal of Obstetrics and Gynecology·Mary C LivergoodAmanda S Trudell

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Citations

Dec 11, 2019·Prenatal Diagnosis·Lisa Hui, Diana W Bianchi
Mar 19, 2020·Acta Obstetricia Et Gynecologica Scandinavica·Laura Andrea JuulFinn Stener Jørgensen
May 8, 2019·Scientific Reports·Xiaolei XieXiaoyan Guo
Jun 20, 2020·The Journal of Obstetrics and Gynaecology Research·Osamu Samura
Oct 2, 2019·Cold Spring Harbor Perspectives in Medicine·Blair Stevens
Nov 16, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Noah C WelkerClement S Chu
Jun 26, 2021·Prenatal Diagnosis·Peter Benn, Andrei Rebarber
Sep 18, 2021·Archives of Gynecology and Obstetrics·Anahita BajkaTilo Burkhardt
Oct 1, 2021·Prenatal Diagnosis·Malou A LugthartEva Pajkrt
Jan 20, 2022·Clinical Obstetrics and Gynecology·Eileen Y WangAnthony R Gregg

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Methods Mentioned

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blood draw

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