2017,
BJOG: An International Journal of Obstetrics & Gynaecology.
DOI:
10.1111/1471-0528.15006
Implications of failure to achieve a result from prenatal maternal serum cell‐free <scp>DNA</scp> testing: a historical cohort study
N Chan, M‐E Smet, R Sandow, F da Silva Costa, A McLennan
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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2024-03-31 22:31:00
半面阳光:
#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。