Women's preference for non‐invasive prenatal DNA testing versus chromosomal microarray after screening for Down syndrome: a prospective study

• Published in: BJOG : an international journal of obstetrics and gynaecology Vol. 125; no. 4; pp. 451 - 459
• Main Authors: Cheng, YKY, Leung, WC, Leung, TY, Choy, KW, Chiu, RWK, Lo, T‐K, Kwok, KY, Sahota, DS
• Format: Journal Article
• Language: English
• Published: England Wiley Subscription Services, Inc 01-03-2018
• Subjects: Abortion, Spontaneous - etiology; Abortion, Spontaneous - prevention & control; Adult; Aneuploidy; Cell-Free Nucleic Acids - analysis; Cell‐free DNA; chromosomal microarray; Cohort Studies; Cytogenetic Analysis - methods; Cytogenetic Analysis - statistics & numerical data; Deoxyribonucleic acid; Diagnostic tests; DNA; DNA microarrays; Down syndrome; Down Syndrome - diagnosis; Down syndrome screening; Down's syndrome; Female; Fetuses; Genetic screening; Genetic Testing - methods; Genetic Testing - statistics & numerical data; Hong Kong; Humans; Medical screening; Microarray Analysis; Miscarriage; non‐invasive prenatal DNA testing; Patient Preference - statistics & numerical data; Pregnancy; Prenatal diagnosis; Prenatal Diagnosis - adverse effects; Prenatal Diagnosis - methods; Prenatal Diagnosis - psychology; Prenatal Diagnosis - statistics & numerical data; Risk Adjustment - methods; trisomy; Hong Kong; Hong Kong China; China; Cell-free DNA; non-invasive prenatal DNA testing; chromosomal microarray; trisomy; Down syndrome screening
• ISSN: 1470-0328; 1471-0528
• DOI: 10.1111/1471-0528.15022

Objective
To examine preferences for follow‐up testing in women screened with high or intermediate risk for Down syndrome in the first or second trimester.
Design
Prospective cohort study.
Setting
Three public hospitals in Hong Kong, China.
Sample
Women with pregnancies termed as high risk (≥1:250; HR) or intermediate risk (1:251–1200; IR) for Down syndrome.
Methods
Women with pregnancies screened as HR were offered the choices of: (1) an invasive test plus chromosomal microarray (CMA) to obtain more detailed fetal genetic information; (2) non‐invasive cell‐free prenatal DNA screening (NIPT) to detect trisomies 13, 18 and 21, and to avoid procedure‐related miscarriage; and (3) to decline any further testing. Women received standardised counselling informing them that the reporting times were identical, the procedure miscarriage risk was 0.1–0.2% and that there was no charge for screening. Women with IR pregnancies (1:251–1200) were offered NIPT as a secondary screening test.
Main outcome measures
Uptake rate for NIPT.
Results
Three hundred and forty‐seven women had pregnancies deemed as HR; 344 (99.1%) women opted for follow‐up testing, 216 (62.2%) of whom chose NIPT. Five hundred and seven of 614 women (82.6%) with IR risk chose NIPT. Seven (21%) of 34 women with nuchal translucency ≥3.5 mm opted for NIPT.
Conclusion
In a setting where reporting times are similar and there is no cost difference between options, approximately 60% of women with pregnancies classed as HR would opt for NIPT, offering simple but limited aneuploidy assessment, over a diagnostic procedure with comprehensive and more detailed assessment.
Tweetable
60% of pregnant Chinese women prefer NIPT over CMA when screened as high risk for Down syndrome.
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60% of pregnant Chinese women prefer NIPT over CMA when screened as high risk for Down syndrome.