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Non-invasive prenatal screening for Emanuel syndrome

机译：Emanuel综合征的非侵入性产前筛查

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Objective:The aim of this study was to validate the results of two Emanuel syndromes detected by non-invasive prenatal screening (NIPS) screening using invasive methods, providing clinical performance of NIPS on chromosome microduplication detection.Methods:NIPS was performed to diagnose the Emanuel syndrome. Amniocentesis or cordocentesis was performed to confirm the positive screening result of Emanuel syndrome cases. Fetal sample was detected by karyotyping, fluorescence in situ hybridization (FISH), and single nucleotide polymorphism array (SNP Array). Parental karyotyping and FISH were also carried out.Results:Two cases with chromosomal abnormalities of 11q23.3q25 and 22q11.1q11.21 were found by NIPS. Chromosomal karyotyping showed that the two fetuses each have a small supernumerary marker chromosome (sSMC), SNP Array further demonstrated double duplications approximately 18?Mb in 11q23.3q25 and 3?Mb in 22q11.1q11.21. FISH confirmed that the small supernumerary marker chromosome (sSMC) was ish der(22)t(11;22) (TUPLE1+, ARSA-). Ultrasound scan and MRI showed some structure malformations in two fetuses. The two mothers were found to be a balanced carrier: 46,XX, t(11;22)(q23.3;q11.2).Conclusion:NIPS could effectively identify Emanuel syndrome, which may indicate risks of a parent being a balanced rearrangement carrier. The followed confirmation test for positive sample is necessary and ensures the accuracy of the diagnosis.? The Author(s). 2020.
机译：目的：本研究的目的是使用侵入性方法验证由非侵入性产前筛查（NIPS）筛选检测到的两种Emanuel综合征的结果，提供染色体微量杂本检测的临床表现。方法：进行NIPS以诊断Emanuel综合征。进行羊膜穿孔术或肠腔穿孔术以确认Emanuel综合征病例的正面筛选结果。通过核型化，荧光原位杂交（鱼）和单核苷酸多态性阵列（SNP阵列）检测胎样品。父母的核型和鱼类也进行了。结果：NIPS发现了两种患有11Q23.3〜25和22Q11.1111.21的染色体异常的病例。染色体核型显示表明，两种胎儿各自具有小的超值标记染色体（SSMC），SNP阵列进一步展示了大约18℃的双重重复，在11Q23.3Qu 25和3？MB中。鱼证实，小超值标记染色体（SSMC）是ISH DER（22）T（11; 22）（TUPLE1 +，ARSA-）。超声扫描和MRI在两个胎儿中显示了一些结构畸形。这两个母亲被发现是平衡载体：46，XX，T（11; 22）（Q23.3; Q11.2）。结论：NIPS可以有效地识别Emanuel综合症，这可能表明父母的风险是平衡的重新排列载体。对于正样品的跟踪确认测试是必要的，并确保诊断的准确性。作者。 2020。

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