TY - JOUR
T1 - Chromosomal microarray vs. NIPS
T2 - analysis of 5541 low-risk pregnancies
AU - Sagi-Dain, Lena
AU - Cohen Vig, Lital
AU - Kahana, Sarit
AU - Yacobson, Shiri
AU - Tenne, Tamar
AU - Agmon-Fishman, Ifat
AU - Klein, Cochava
AU - Matar, Reut
AU - Basel-Salmon, Lina
AU - Maya, Idit
N1 - Publisher Copyright:
© 2019, American College of Medical Genetics and Genomics.
PY - 2019/11/1
Y1 - 2019/11/1
N2 - Purpose: To evaluate the diagnostic yield of chromosomal microarray (CMA) in pregnancies with normal ultrasound. Methods: This retrospective cohort analysis included all pregnancies with normal ultrasound undergoing CMA testing between the years 2010 and 2016. We calculated the rate of detection of clinically significant CMA findings in the whole cohort and according to various indications. Results: Of 5541 CMA analyses, clinically significant findings were yielded in 78 cases (1.4%). Of these, 31 (39.7%) variants could have theoretically been detected by karyotyping (e.g., sized above 10 Mb), and 28 (35.9%) by noninvasive prenatal screening aimed at five common aneuploidies. Of the 47 submicroscopic findings detectable by CMA only, the majority (37 cases, 78.7%) represented known recurrent syndromes. Detection of clinically significant CMA findings in women with no indication for invasive testing was 0.76% (21/2752), which was significantly lower compared with 1.8% in advanced maternal age group (41/2336), 2.8% in abnormal biochemical serum screening (6/211), and 4.1% (10/242) in fetuses with sonographic soft markers. Conclusion: Clinically significant CMA aberrations are detected in 1 of 71 pregnancies with normal ultrasound, and in 1 of 131 women with no indication for invasive testing. Thus, CMA might be recommended a first-tier test in pregnancies with normal ultrasound.
AB - Purpose: To evaluate the diagnostic yield of chromosomal microarray (CMA) in pregnancies with normal ultrasound. Methods: This retrospective cohort analysis included all pregnancies with normal ultrasound undergoing CMA testing between the years 2010 and 2016. We calculated the rate of detection of clinically significant CMA findings in the whole cohort and according to various indications. Results: Of 5541 CMA analyses, clinically significant findings were yielded in 78 cases (1.4%). Of these, 31 (39.7%) variants could have theoretically been detected by karyotyping (e.g., sized above 10 Mb), and 28 (35.9%) by noninvasive prenatal screening aimed at five common aneuploidies. Of the 47 submicroscopic findings detectable by CMA only, the majority (37 cases, 78.7%) represented known recurrent syndromes. Detection of clinically significant CMA findings in women with no indication for invasive testing was 0.76% (21/2752), which was significantly lower compared with 1.8% in advanced maternal age group (41/2336), 2.8% in abnormal biochemical serum screening (6/211), and 4.1% (10/242) in fetuses with sonographic soft markers. Conclusion: Clinically significant CMA aberrations are detected in 1 of 71 pregnancies with normal ultrasound, and in 1 of 131 women with no indication for invasive testing. Thus, CMA might be recommended a first-tier test in pregnancies with normal ultrasound.
KW - chromosomal microarray analysis
KW - karyotype
KW - low-risk pregnancies
KW - noninvasive prenatal screening
KW - prenatal diagnosis
UR - http://www.scopus.com/inward/record.url?scp=85066898550&partnerID=8YFLogxK
U2 - 10.1038/s41436-019-0550-x
DO - 10.1038/s41436-019-0550-x
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C2 - 31123319
AN - SCOPUS:85066898550
SN - 1098-3600
VL - 21
SP - 2462
EP - 2467
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 11
ER -