Letty Romary

Uptake of noninvasive prenatal testing at a large academic referral center.

OBJECTIVE Noninvasive prenatal testing (NIPT) is a recently developed risk-assessment technique with high sensitivity and specificity for fetal aneuploidy. The effect NIPT has had on traditional screening and diagnostic testing has not been clearly demonstrated. In this study, NIPT uptake and subsequent changes in the utilization of first-trimester screen (FTS), chorionic villus sampling (CVS), and amniocentesis in a single referral center is reported. STUDY DESIGN Monthly numbers of NIPT (in high-risk patients), FTS, CVS, and amniocentesis were compared between a 35-month baseline period (April 2009 through February 2012) before introduction of NIPT, and the initial 16 months following NIPT introduction divided in 4-month quarters beginning in March 2012 through June 2013. RESULTS A total of 1265 NIPT, 6637 FTS, 251 CVS, and 1134 amniocentesis were recorded over the 51-month study period in singleton pregnancies of women who desired prenatal screening and diagnostic testing. NIPT became the predominant FTS method by the second quarter following its introduction, increasing by 55.0% over the course of the study period. Total first-trimester risk assessments (NIPT+FTS) were not statistically different following NIPT (P = .312), but average monthly FTS procedures significantly decreased following NIPT introduction, decreasing by 48.7% over the course of the study period. Average monthly CVS and amniocentesis procedures significantly decreased following NIPT introduction, representing a 77.2% and 52.5% decrease in testing, respectively. Screening and testing per 100 morphological ultrasounds followed a similar trend. CONCLUSION NIPT was quickly adopted by our high-risk patient population, and significantly decreased alternate prenatal screening and diagnostic testing in a short period of time.

Association of combined first-trimester screen and noninvasive prenatal testing on diagnostic procedures.

OBJECTIVE: To describe the changes over a 9-year period in the number and rate of diagnostic testing after the introduction of the combined first-trimester screen and subsequent noninvasive prenatal testing. METHODS: The number of prenatal screening and diagnostic tests was recorded over a 9-year period from billing records. Three time intervals were considered: 1) 20 months before a combined first-trimester screen was offered; 2) 72 months after a combined first-trimester screen was offered; and 3) 16 months after noninvasive prenatal testing introduction. Prenatal testing was compared per year, per time interval, and per 100 morphologic ultrasonograms to account for fluctuations in patient number. RESULTS: A total of 15,418 prenatal tests was recorded during the study period, consisting of 9,780 combined first-trimester screen, 1,265 noninvasive prenatal testing, 608 chorionic villus sampling (CVS), and 3,765 amniocenteses. Combined first-trimester screen peaked at 1,836 in 2009–2010 but declined by 48.1% after noninvasive prenatal testing was introduced. Combined first-trimester screen per 100 morphologic ultrasonograms also significantly decreased (P<.05) after noninvasive prenatal testing introduction. Chorionic villus sampling peaked after combined first-trimester screen introduction in 2007–2008 with 100 procedures, representing an 81.8% increase from prefirst-trimester screen. After the introduction of noninvasive prenatal testing, CVS declined by 68.6% during 2012–2013. Chorionic villus sampling per 100 morphologic ultrasonograms followed the same trend. Amniocentesis declined every year of the study period (78.8% overall), including 60.3% after combined first-trimester screen and a further 46.7% after noninvasive prenatal testing. Monthly amniocentesis procedures per 100 morphologic ultrasonograms significantly decreased (P<.05) after introduction of a combined first-trimester screen and noninvasive prenatal testing. CONCLUSION: The introduction of combined first-trimester screen was associated with an increase in CVS and a decrease in amniocentesis testing. Noninvasive prenatal testing was associated with a subsequent decrease in CVS and further decrease in amniocentesis. LEVEL OF EVIEDENCE: III

Cardiac axis shift within the cardiac cycle of normal fetuses and fetuses with congenital heart defect

To investigate changes in the cardiac axis (CAx) within the cardiac cycle of normal fetuses and fetuses with congenital heart defects (CHD).

The Role of Early Gestation Ultrasound in the Assessment of Fetal Anatomy in Maternal Obesity

The 2012 Eunice Kennedy Shriver National Institute of Child Health fetal imaging consensus suggested that fetal anatomy ultrasound in obese pregnancies be performed at 20 to 22 weeks, with follow‐up in 2 to 4 weeks if anatomy is incomplete. It was postulated that imaging in early gestation may improve visualization, although no prospective trials had been done to date.

Changes in prenatal testing trends after introduction of noninvasive prenatal testing.

INTRODUCTION: Noninvasive prenatal testing is a highly sensitive and specific prenatal screening method that offers significant advantages over traditional testing modalities such as first-trimester combined screen, chorionic villus sampling (CVS), and amniocentesis. We report noninvasive prenatal testing uptake and the changes in first-trimester combined screen, CVS, and amniocentesis testing after noninvasive prenatal testing introduction in a single academic practice. METHODS: Average monthly procedure rates for four prenatal tests (noninvasive prenatal testing, first-trimester combined screen, CVS, and amniocentesis) were compared retrospectively over four time periods: 1) before noninvasive prenatal testing introduction (April–July of 2009, 2010, and 2011, to account for seasonal variation); 2) the first 4 months of noninvasive prenatal testing in clinical practice (April 2012 to July 2012); 3) 4 months immediately preceding the formal American College of Obstetricians and Gynecologists’ statement on noninvasive prenatal testing (August 2012 to November 2012); and 4) 4 months after the American College of Obstetricians and Gynecologists’ recommendation of noninvasive prenatal testing (December 2012 to March 2013). Data were also normalized per 100 targeted ultrasound scans to control for fluctuations in patient visits. RESULTS: A total of 977 noninvasive prenatal testing, 2,817 first-trimester combined screen, 100 CVS, and 507 amniocenteses were performed during the study period. Once available, noninvasive prenatal testing showed high uptake, increasing over the study intervals by 17.4% per 100 targeted ultrasound scans. First-trimester combined screen significantly decreased after noninvasive prenatal testing introduction, decreasing by 47.5% per 100 targeted ultrasound scans over the study intervals. The rate of CVS and amniocentesis also significantly decreased after the introduction of noninvasive prenatal testing, decreasing by 90.4% and 63.5% per 100 targeted ultrasound scans over the study intervals, respectively. CONCLUSIONS: Noninvasive prenatal testing was quickly adopted by our clinic population and significantly decreased other screening and diagnostic methods in a short period of time.

Differential Effects of First-Trimester Screening Programs on Chorionic Villus Sampling

INTRODUCTION: The American College of Obstetricians and Gynecologists recommends that all women be offered screening for fetal aneuploidy regardless of maternal age. Two first-trimester screening programs are the first-trimester combined screen and noninvasive prenatal testing with positive screens followed up with invasive methods such as chorionic villus sampling (CVS). We show here the differing effects on CVS procedure rates after the introduction of first-trimester combined screen and noninvasive prenatal testing in a single practice. METHODS: Chorionic villus sampling and first-trimester combined screen procedures for a 9-year period were recorded from clinic billing information and evaluated 1) before first-trimester combined screen was offered (July 2004 to February 2006); 2) after first-trimester combined screen introduction but before noninvasive prenatal testing (March 2006 to February 2012); and 3) after noninvasive prenatal testing introduction (March 2012 to June 2013). Data were normalized per 1,000 targeted ultrasound scans to account for fluctuations in patient number and compared using analysis of variance. RESULTS: A total of 9,780 first-trimester combined screen and 608 CVS procedures were recorded during the 9-year study period. First-trimester combined screen peaked in 2009–2010 with 1,836 procedures but declined by 48.1% to 952 procedures after introduction of noninvasive prenatal testing. Monthly first-trimester combined screen and monthly first-trimester combined screen per 1,000 targeted ultrasound scans also significantly decreased postnoninvasive prenatal testing. During the same period, CVS increased from 55 to 100 procedures in 2007–2008 (81.8% increase from prefirst-trimester combined screen levels) but decreased to 22 procedures in 2012–2013 (78.0% decrease postnoninvasive prenatal testing). Furthermore, CVS procedures per 1,000 targeted ultrasound scans significantly increased after first-trimester combined screen but significantly decreased after noninvasive prenatal testing. CONCLUSION: The introduction of first-trimester combined screen caused a significant increase in CVS testing, whereas introduction of noninvasive prenatal testing caused a significant decrease in CVS testing.