Chromosomal microarray vs. NIPS: analysis of 5541 low-risk pregnancies
| Autor: | Lina Basel-Salmon, Reut Matar, Lena Sagi-Dain, Idit Maya, Ifat Agmon-Fishman, Cochava Klein, Sarit Kahana, Shiri Yacobson, Tamar Tenne, Lital Cohen Vig |
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| Rok vydání: | 2018 |
| Předmět: |
medicine.medical_specialty
Microarray Prenatal diagnosis Chromosome Disorders Ultrasonography Prenatal Cohort Studies Pregnancy Prenatal Diagnosis medicine Humans Advanced maternal age Genetic Testing health care economics and organizations Genetics (clinical) Retrospective Studies Chromosome Aberrations Fetus Obstetrics business.industry Ultrasound Obstetrics and Gynecology Retrospective cohort study General Medicine medicine.disease Aneuploidy Microarray Analysis humanities Prenatal screening Karyotyping Cohort Female Serum screening business Cohort study |
| Zdroj: | Genetics in medicine : official journal of the American College of Medical Genetics. 21(11) |
| ISSN: | 1530-0366 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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