Incidence of chromosomal abnormalities in fetuses with first trimester ultrasound anomalies and a low‐risk cell‐free DNA test for common trisomies
| Autor: | Paolo Volpe, Isabella Fabietti, Nicola Persico, Mattia Gentile, Rosamaria Silipigni, Valentina De Robertis, Benedetta Ischia, Luisa Ronzoni, Simona Boito, Claudiana Olivieri, G. Rembouskos, Enrico Periti, Romina Ficarella |
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| Rok vydání: | 2020 |
| Předmět: |
Adult
0301 basic medicine medicine.medical_specialty Trisomy 030105 genetics & heredity Congenital Abnormalities Young Adult 03 medical and health sciences 0302 clinical medicine Pregnancy Chromosomal Abnormality medicine Humans Prospective Studies Genetics (clinical) Chromosome Aberrations Fetus 030219 obstetrics & reproductive medicine Obstetrics business.industry Incidence (epidemiology) Ultrasound Obstetrics and Gynecology Karyotype Middle Aged medicine.disease Pregnancy Trimester First Cell-free fetal DNA Female First trimester ultrasound Nuchal Translucency Measurement business Cell-Free Nucleic Acids |
| Zdroj: | Prenatal Diagnosis. 40:1474-1481 |
| ISSN: | 1097-0223 0197-3851 |
| DOI: | 10.1002/pd.5799 |
| Popis: | Objective To examine the incidence and type of chromosomal abnormalities in fetuses with first trimester ultrasound anomalies and a low-risk cfDNA test for common trisomies. Methods In 486 singleton pregnancies undergoing invasive testing after combined screening, a detailed first trimester ultrasound assessment was carried out and a maternal blood sample was sent for cfDNA analysis. Ultrasound and cfDNA data were analyzed in relation to fetal karyotype. Results Invasive testing demonstrated a chromosomal abnormality in 157 (32.3%) of 486 fetuses. In 348 cases with a low-risk cfDNA test for common trisomies, NT ≥ 3.5 mm and/or a major structural defect were observed in 92 (26.4%) fetuses. A chromosomal abnormality was found in 17 (18.5%; 95%CI 10.55-26.41) of these pregnancies, including 1 (1.1%) case of trisomy 21 and 16 (17.4%) fetuses with abnormalities different from common trisomies. The respective incidence in the 256 cases with a low-risk cfDNA test result and no ultrasound anomalies was 2.3% (95% CI 0.49-4.20; n = 6). Conclusions In fetuses with first trimester ultrasound anomalies and a low-risk cfDNA result for trisomy 21, 18 and 13, diagnostic testing should be offered with the main objective to detect chromosomal abnormalities beyond common trisomies. |
| Databáze: | OpenAIRE |
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