1型神经纤维瘤病的产前诊断及生殖系嵌合体的陷阱
Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics.
作者信息
Pacot Laurence, Vidaud Dominique, Ye Manuela, Chansavang Albain, Coustier Audrey, Maillard Theodora, Barbance Cécile, Laurendeau Ingrid, Hébrard Bérénice, Lunati-Rozie Ariane, Funalot Benoît, Wolkenstein Pierre, Vidaud Michel, Goldenberg Alice, Morice-Picard Fanny, Hadjadj Djihad, Parfait Béatrice, Pasmant Eric
机构信息
AP-HP, Hôpital Cochin, DMU BioPhyGen, Université Paris Cité, Paris, France.
Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.
出版信息
NPJ Genom Med. 2024 Sep 8;9(1):41. doi: 10.1038/s41525-024-00425-9.
We report our 5-year experience in neurofibromatosis type 1 prenatal diagnosis (PND): 205 PNDs in 146 women (chorionic villus biopsies, 88% or amniocentesis, 12%). The NF1 variant was present in 85 (41%) and absent in 122 (59%) fetuses. Among 205 pregnancies (207 fetuses), 135 were carried to term (119 unaffected and 16 NF1 affected children), 69 pregnancy terminations (affected fetuses), 2 miscarriages, and 1 in utero death. The majority of PND requests came from parents with sporadic NF1. We describe two PNDs in women with mosaic NF1. In both families, direct PND showed the absence of the maternal NF1 variant in the fetus. However, microsatellite markers analysis showed that the risk haplotype had been transmitted. These rare cases of germline mosaicism illustrate the pitfall of indirect PND. Our study illustrates the crucial consequences of PND for medical and genetic counseling decisions. We also point to the challenges of germline mosaics.
我们报告了我们在1型神经纤维瘤病产前诊断（PND）方面的5年经验：146名女性进行了205次PND（绒毛膜绒毛取样，88%；或羊膜穿刺术，12%）。85名（41%）胎儿存在NF1变异，122名（59%）胎儿不存在该变异。在205次妊娠（207名胎儿）中，135名足月分娩（119名未受影响儿童和16名受NF1影响儿童），69次妊娠终止（受影响胎儿），2次流产，1次宫内死亡。大多数PND请求来自散发型NF1患者的父母。我们描述了两名患有嵌合型NF1女性的PND情况。在这两个家庭中，直接PND显示胎儿不存在母亲的NF1变异。然而，微卫星标记分析表明风险单倍型已被遗传。这些罕见的生殖系嵌合病例说明了间接PND的陷阱。我们的研究说明了PND对医疗和遗传咨询决策的关键影响。我们还指出了生殖系嵌合体带来的挑战。
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