Trends in invasive prenatal diagnostic testing at a single institution

Prenatal Diagnosis
Adeola AwomoloElena Ashkinadze

Abstract

As diagnostic methodologies evolve, we sought to determine whether invasive testing rates would decline, whether there would be a shift in indications for invasive testing, and whether the diagnostic yield would increase. We conducted a retrospective, observational study from 2006 through 2015. We quantified the number of invasive procedures per year and examined what percentage of these procedures yielded abnormal results. We also examined the indications for testing and determined the trend of these indications during the study period. The number of amniocenteses showed a steady decline (P < .05). The number of CVS procedures has increased and was recently equivalent to amniocentesis. The percentage of abnormal results steadily increased from 11.4% to 27.0% (P < .001). The abnormal aneuploidy screening indication remained constant over time. Advanced maternal age (AMA) as the sole indication substantially declined from 42.3% to 15.52% (P < .001). Testing for a known single gene disorder steadily increased from 3.0% to 9.20% (P = .018). Our study showed a significant decline in the number of amniocenteses, a steady increase in the percentage of abnormal results from invasive testing, and a decline in AMA as the sole indication...Continue Reading

References

Jan 1, 1976·Journal of Clinical Pathology. Supplement (Royal College of Pathologists)·J H Brock
Aug 1, 1994·Prenatal Diagnosis·N J WaldG G Klee
Sep 1, 1994·British Journal of Obstetrics and Gynaecology·K H NicolaidesR J Snijders
Jan 23, 1999·American Journal of Human Genetics·Y M LoN M Hjelm
Nov 12, 2005·The New England Journal of Medicine·Fergal D MaloneUNKNOWN First- and Second-Trimester Evaluation of Risk (FASTER) Research Consortium
Jan 7, 2011·Prenatal Diagnosis·Kypros H Nicolaides
Jan 28, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Glenn E PalomakiJacob A Canick
Mar 1, 2012·Obstetrics and Gynecology·Diana W BianchiUNKNOWN MatErnal BLood IS Source to Accurately diagnose fetal aneuploidy (MELISSA) Study Group
May 11, 2012·Fetal Diagnosis and Therapy·Ghalia AshoorKypros H Nicolaides
Dec 12, 2012·The New England Journal of Medicine·Ronald J WapnerLaird Jackson
Oct 18, 2013·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Carmen ComasVincenzo Cirigliano
Jun 26, 2015·BJOG : an International Journal of Obstetrics and Gynaecology·L HuiJ L Halliday
Feb 24, 2016·Fetal Diagnosis and Therapy·Adeeb KhalifehAlan Donnenfeld
Feb 23, 2017·Obstetrics and Gynecology·UNKNOWN Committee on Genetics

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