Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Mol Biol Rep. 2022 Oct;49(10):9251-9256. doi: 10.1007/s11033-022-07754-x. Epub 2022 Aug 12.
Early and intermediate serological screening cannot detect sex chromosome abnormalities. Currently, noninvasive prenatal testing (NIPT) is the only procedure available for screening such disorders; however, its use is controversial.
A total of 47,855 pregnant women underwent NIPT at our referral center from January 2014 to December 2020. Of the 314 patients with a positive NIPT indicating sex chromosome abnormalities, 260 were screened via karyotype analysis and single nucleotide polymorphism (SNP) array after amniotic fluid extraction; 96 cases were confirmed. Karyotype analysis and SNP array were consistent in the diagnosis of 88 out of the 96 fetuses. The positive predictive value (PPV) for sex chromosome abnormalities was found to be 36.9%. The PPV in patients aged 30-34 years was significantly higher than that in patients aged < 30 years. No statistically significant difference was observed on the PPV among patients with or without previous adverse pregnancy outcomes. Moreover, 83 women carrying fetuses were diagnosed with a sex chromosome abnormality terminated their pregnancy.
Improvements in detection and analytical technologies are needed to increase the accuracy of sex chromosome abnormalities detection. Pregnant women with a positive NIPT for these abnormalities may require invasive diagnostic procedures such as karyotype analysis and SNP array for better genetic counseling.
早期和中期血清学筛查无法检测性染色体异常。目前，非侵入性产前检测（NIPT）是筛查此类疾病的唯一方法；然而，其应用存在争议。
2014 年 1 月至 2020 年 12 月，共有 47855 名孕妇在我们的转诊中心接受了 NIPT。在 314 名 NIPT 阳性提示性染色体异常的患者中，260 名经羊水提取后行核型分析和单核苷酸多态性（SNP）微阵列检测；96 例得到证实。核型分析和 SNP 微阵列在诊断 96 例胎儿中的 88 例中一致。性染色体异常的阳性预测值（PPV）为 36.9%。30-34 岁患者的 PPV 明显高于<30 岁患者。有或无不良妊娠结局史的患者之间，PPV 无统计学差异。此外，83 名携带胎儿性染色体异常的妇女终止了妊娠。
需要改进检测和分析技术，以提高性染色体异常检测的准确性。对这些异常的 NIPT 阳性孕妇可能需要进行侵入性诊断程序，如核型分析和 SNP 微阵列，以进行更好的遗传咨询。
