[Non-invasive prenatal screening in three cases of vanishing twin syndrome and a literature review].

Q4 Medicine
Xinni Shu, Jiexia Yang, Yousheng Wang, Zhuanping Zhang, Fangfang Guo, Haishan Peng, Dongmei Wang, Yaping Hou
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引用次数: 0

Abstract

Objective: To assess the impact of vanishing twin syndrome (VTS) on the accuracy of non-invasive prenatal testing (NIPT).

Methods: Three pregnant women who underwent NIPT testing at Guangdong Women and Children's from November 2019 to February 2020 were selected as the study subjects. The three women had either vanish twin syndrome or had undergone fetal reduction for other reasons in one of their twins, and were subsequently subject to NIPT, chromosome karyotyping, chromosome microarray analysis (CMA), and short tandem repeat (STR) analysis. This study has been approved by the Medical Ethics Committee of Guangdong Maternal and Child Health Hospital (Ethics No.: 20230132).

Results: Case 1 underwent selective fetal reduction at 8+ weeks of gestation. At 17+ weeks, NIPT showed a fetal DNA fraction of 2.806%, with results indicating the presence of Y chromosome and abnormal sex chromosome ratios. However, the women had subsequent uncomplicated vaginal delivery of a female infant, and no abnormality noted. Case 2 experienced spontaneous demise of one twin at 13 weeks' gestation. At 19 weeks, NIPT indicated a high risk for chromosome 21 (Z-score 4.671) in the surviving fetus, but subsequent evaluation showed no abnormality. Case 3, a dichorionic diamniotic (DCDA) twin pregnancy, underwent selective reduction at 13+ weeks due to fetal abnormalities in one twin. At 22+ weeks, NIPT for the surviving fetus indicated a high risk for chromosome 21 (Z-score 17.549), but subsequent evaluation was unremarkable.

Conclusion: In twin pregnancies, the relatively low cell-free fetal DNA (cffDNA) concentration can compromise the success rate and accuracy of NIPT compared to singleton pregnancies. Residual DNA from the demised fetus may persist for weeks following VTS or selective reduction, potentially causing false-positive NIPT results and interfering with sex chromosome prediction for the surviving fetus. Additionally, determining chorionicity is critical for reliable interpretation of NIPT results in twin pregnancies.

[3例消失双胞胎综合征的无创产前筛查及文献回顾]。
目的:探讨消失双胞胎综合征(VTS)对无创产前检查(NIPT)准确性的影响。方法:选取2019年11月至2020年2月在广东省妇幼医院接受NIPT检测的3例孕妇为研究对象。这三名妇女要么患有消失双胞胎综合征,要么因其他原因在其中一个双胞胎中经历了胎儿减少,随后接受了NIPT、染色体核型、染色体微阵列分析(CMA)和短串联重复序列(STR)分析。本研究已获广东省妇幼保健院医学伦理委员会批准(伦理号::: 20230132)。结果:病例1在妊娠8周以上行选择性胎位减少术。在17周以上时,NIPT显示胎儿DNA分数为2.806%,结果表明存在Y染色体和异常的性染色体比例。然而,这些妇女随后顺利地阴道分娩了一名女婴,没有发现异常。病例2在妊娠13周发生一例双胞胎自然死亡。19周时,NIPT显示存活胎儿的21号染色体风险较高(Z-score 4.671),但随后的评估未发现异常。病例3,双绒毛膜双羊膜(DCDA)双胎妊娠,在13周以上时,由于其中一人胎儿异常,进行了选择性减位术。在22周以上,存活胎儿的NIPT显示21号染色体的高风险(Z-score 17.549),但随后的评估没有显著性。结论:在双胎妊娠中,与单胎妊娠相比,游离胎儿DNA (cffDNA)浓度较低会影响NIPT的成功率和准确性。死亡胎儿的残留DNA可能在VTS或选择性减少后持续数周,可能导致NIPT结果假阳性并干扰对存活胎儿的性染色体预测。此外,确定绒毛膜性对双胎妊娠NIPT结果的可靠解释至关重要。
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来源期刊
中华医学遗传学杂志
中华医学遗传学杂志 Medicine-Medicine (all)
CiteScore
0.50
自引率
0.00%
发文量
9521
期刊介绍: Chinese Journal of Medical Genetics is a medical journal, founded in 1984, under the supervision of the China Association for Science and Technology, sponsored by the Chinese Medical Association (hosted by Sichuan University), and is now a monthly magazine, which attaches importance to academic orientation, adheres to the scientific, scholarly, advanced, and innovative, and has a certain degree of influence in the industry. Chinese Journal of Medical Genetics is a journal of Peking University, and is now included in Peking University Journal (Chinese Journal of Humanities and Social Sciences), CSCD Source Journals of Chinese Science Citation Database (with extended version), Statistical Source Journals (China Science and Technology Dissertation Outstanding Journals), Zhi.com (in Chinese), Wipu (in Chinese), Wanfang (in Chinese), CA Chemical Abstracts (U.S.), JST (Japan Science and Technology Science and Technology), and JST (Japan Science and Technology Science and Technology Research Center). ), JST (Japan Science and Technology Agency), Pж (AJ) Abstracts Journal (Russia), Copernicus Index (Poland), Cambridge Scientific Abstracts, Abstracts and Citation Database, Abstracts Magazine, Medical Abstracts, and so on.
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