Takeda Eri, Suzumori Nobuhiro, Samura Osamu, Miura Kiyonori, Kamei Yoshimasa, Sawai Hideaki, Yamada Takahiro, Ichizuka Kiyotake, Komatsu Reina, Wada Seiji, Katagiri Yukiko, Morisaki Hiroko, Nakayama Setsuko, Hamanoue Haruka, Murotsuki Jun, Mimura Kazuya, Matsubara Yuko, Maeda Kazuhisa, Ida Akinori, Ito Mika, Hayakawa Hiromi, Fujiwara Arisa, Shirato Nahoko, Ishii Tatsuko, Sago Haruhiko, Sekizawa Akihiko
Department of Obstetrics and Gynecology, Division of Clinical and Molecular Genetic, Nagoya City University, Graduate School of Medical Sciences, Nagoya, 467-8601, Japan.
Department of Clinical Genetics, Iwate Medical University School of Medicine, Morioka, Japan.
J Hum Genet. 2025 Jun;70(6):297-305. doi: 10.1038/s10038-025-01332-2. Epub 2025 Mar 28.
Noninvasive prenatal testing diagnoses fetal aneuploidies in singleton pregnancies with trisomy 21, 18, or 13 accurately. However, clinical data on noninvasive prenatal testing in women with twin or vanishing twin pregnancies are limited. We report on the accuracy and prenatal and neonatal outcomes of noninvasive prenatal testing in twin and vanishing twin pregnancies. This retrospective study was conducted at 22 facilities belonging to the Noninvasive Prenatal Testing Consortium, part of a nationwide project in Japan, visited by women with twin or vanishing twin pregnancies between January 2015 and March 2022. This study investigated the accuracy and perinatal and neonatal outcomes of noninvasive prenatal testing using massively parallel sequencing in twin or vanishing twin pregnancies. Of 1013 women with twin pregnancies, 986 (97.3%) had negative; 13 (1.3%), positive; and 14 (1.4%), non-reportable noninvasive prenatal testing results. Of 225 women with vanishing twins, 203 (90.2%) had negative; 11 (4.9%), positive; and 11 (4.9%), non-reportable results. Among 1693 fetuses (77.3%) excluding 497 unknowns were available for follow-up, 1476 were from twin pregnancies, and 134 were from vanishing twin pregnancies, totaling 1610 babies has born. No false negatives were observed in the cases followed. These results indicate that noninvasive prenatal testing is useful for vanishing twin pregnancies and provide reassurance for pregnant women with twins and vanishing twins.
无创产前检测能够准确诊断单胎妊娠中胎儿的21三体、18三体或13三体非整倍体情况。然而，关于双胎或消失双胎妊娠女性的无创产前检测临床数据有限。我们报告了双胎和消失双胎妊娠中无创产前检测的准确性以及产前和新生儿结局。这项回顾性研究在日本全国性项目的无创产前检测联盟所属的22家机构进行，研究对象为2015年1月至2022年3月期间前来就诊的双胎或消失双胎妊娠女性。本研究调查了在双胎或消失双胎妊娠中使用大规模平行测序进行无创产前检测的准确性以及围产期和新生儿结局。在1013例双胎妊娠女性中，986例（97.3%）检测结果为阴性；13例（1.3%）为阳性；14例（1.4%）为不可报告的无创产前检测结果。在225例消失双胎妊娠女性中，203例（90.2%）检测结果为阴性；11例（4.9%）为阳性；11例（4.9%）为不可报告结果。在1693例可随访的胎儿（排除497例未知情况后占77.3%）中，1476例来自双胎妊娠，134例来自消失双胎妊娠，共1610例婴儿出生。在随访的病例中未观察到假阴性结果。这些结果表明，无创产前检测对消失双胎妊娠有用，并为双胎和消失双胎妊娠的孕妇提供了安心保障。
