1. Changing Face of Invasive Diagnostic Testing in the Era of Cell-Free DNA
- Author
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Zainab Al-Ibraheemi, Natalie Porat, Zoe Nelson, Meredith Kalberer, Barak Rosenn, and Dyese Taylor
- Subjects
Adult ,medicine.medical_specialty ,Abnormal maternal serum screening ,Genetic counseling ,New York ,Chorionic villus sampling ,Chromosome Disorders ,Ultrasonography, Prenatal ,03 medical and health sciences ,0302 clinical medicine ,Pregnancy ,medicine ,Humans ,Genetic Testing ,030212 general & internal medicine ,Advanced maternal age ,Retrospective Studies ,Gynecology ,030219 obstetrics & reproductive medicine ,medicine.diagnostic_test ,Obstetrics ,business.industry ,Obstetrics and Gynecology ,Retrospective cohort study ,Middle Aged ,Institutional review board ,Logistic Models ,Chorionic Villi Sampling ,Cell-free fetal DNA ,Pediatrics, Perinatology and Child Health ,Amniocentesis ,Female ,business ,Cell-Free Nucleic Acids ,Maternal Age - Abstract
Background Screening for fetal chromosomal anomalies using cell-free DNA (cfDNA) became clinically available in 2012. Since then, it has been widely adopted by providers and pregnant women with or without risk factors for aneuploidy. Concomitantly, the use of invasive diagnostic testing has been steadily declining. Objective To determine the magnitude of decline and changes in indications for invasive prenatal testing over the past 6 years. Study Design This was an institutional review board (IRB) approved retrospective cohort study that included women who were referred to our genetic division for consultation between January 2010 and December 2015 and decided to have invasive testing. The total number of patients choosing either option was determined for each year over the entire period and grouped by following indications: advanced maternal age, abnormal maternal serum screening (MS), abnormal ultrasound finding (US), personal or family history of genetic anomaly (FH), and others. Patients, who were advanced maternal age (AMA), were offered noninvasive prenatal screening or chorionic villus sampling (CVS) or amniocentesis in addition to routine nuchal translucency screening. The proportion of AMA patients choosing each of the three options was determined in a 6-month interval over the entire study period. Statistical analysis included logistic regression and chi-square test. Results While the number of patients receiving genetic counseling at our unit remained unchanged over the study period, the number of invasive procedures declined steadily from 429 amniocentesis (amnio) and 154 CVS in 2010 to 72 amnio and 60 CVS in 2015 (p Conclusion The use of invasive procedures to diagnose chromosomal and genetic anomalies has declined over the past years, primarily due to the availability of cfDNA testing for AMA and abnormal serum screening. The new reality is that fewer women opt for invasive procedures and do so primarily following abnormal ultrasound findings or due to a history of chromosomal or genetic anomalies. Given these trends, it is likely that future generations of maternal–fetal medicine (MFM) subspecialists will not have the opportunity to acquire the necessary skills to perform these procedures, when needed.
- Published
- 2017
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