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(2024-03-31 22:31):
#paper DOI: https://doi.org/10.1111/1471-0528.15006, BJOG, 2018, No-call non-invasive prenatal testing gives important information. 这篇文章是个会议论文,发表时间相对来说也比较早了,在2018年;但是这篇文章所关注的问题却很实际,即NIPT应用中无法得出结果(no-call)的样本提示了哪些信息。文章给出的信息是大约1~3%的受检者会得到一个“no-call”的结果。”no-call”的一个最常见的原因是胎儿cfDNA比例不足,即母亲的cfDNA背景高,而造成这种情况的原因又与母亲的BMI指数有关。另外,’no-call’也与母亲存在染色体非整体风险有关。这就给临床实际处理这些问题时提供了一些参考信息;对此类‘no-call’的样本,有研究建议不仅要对受检者再次进行NIPT检测,还需进行CVS检测。此外,“no-call”样本还可能与母亲的pre-eclampsia有关。而放在实际的NIPT应用中,“no-call”样本不仅可以作为一些风险信息提供辅助参考,还与NIPT检测这项技术在临床上的运行、技术评估等有关。
BJOG : an international journal of obstetrics and gynaecology,
2018-Jun.
DOI: 10.1111/1471-0528.15006
PMID: 29090507
Implications of failure to achieve a result from prenatal maternal serum cell-free DNA testing: a historical cohort study
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Abstract:
OBJECTIVE: To investigate the pregnancy outcomes in a cohort of women who failed to obtain a result in non-invasive prenatal testing (NIPT).DESIGN: Historical cohort study.SETTING: A multicentre private practice in Sydney, Australia.POPULATION: Women who failed to obtain a result from NIPT (n = 131).METHODS: The maternal characteristics, antenatal investigations and pregnancy outcomes for these women were compared with those who obtained a result at the same practice and to the general Australian obstetric population.MAIN OUTCOME MEASURES: Antenatal investigations: pregnancy-associated plasma protein-A (PAPP-A), free β-human chorionic gonadotrophin (β-hCG), placental growth factor (PlGF), uterine artery pulsatility index (PI), mean arterial pressure (MAP). Pregnancy outcomes: chromosomal abnormality, pre-eclampsia, gestational diabetes, small-for-gestational-age (SGA), preterm delivery.RESULTS: Only 1.1% of NIPT samples failed to return a result. This cohort was significantly older and had significantly increased weight compared with the general Australian obstetric population. Pregnancy outcomes were available for 94% of the cohort. There were significantly higher rates of chromosomal aneuploidies (6.5% versus 0.2%, P < 0.0001), pre-eclampsia (11% versus 1.5%, P < 0.0001) and gestational diabetes (23% versus 7.5%, P < 0.0001) compared with the general obstetric population. Rates of preterm delivery and SGA were elevated but did not reach significance. Antenatal investigations demonstrated decreased PAPP-A MoM (0.75 versus 1.14, P < 0.0001), decreased free β-hCG (0.71 versus 1.01, P < 0.0001) and increased uterine artery PI (1.79 versus 1.65, P = 0.02).CONCLUSION: Women who fail to obtain a result from NIPT are at increased risk of adverse pregnancy outcomes, in particular chromosomal aneuploidy, gestational diabetes and pre-eclampsia.FUNDING: None received.TWEETABLE ABSTRACT: Women who fail to obtain a result from cell-free DNA NIPT are at increased risk of adverse pregnancy outcomes.
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