Antenatal Diagnosis of Dizygotic, Monochorionic Twins Following IVFI/CSI Pranatale Diagnose von dizygoten, monochorialen Gemini

Antenatal Diagnosis of Dizygotic, Monochorionic Twins Following IVFI/CSI Pranatale Diagnose von dizygoten, monochorialen Gemini
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DOI:
10.1055/s-0042-101024
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发表时间:
2016-06-01
影响因子:
2.7
通讯作者:
Germer, U.
Germer, U.
中科院分区:
医学4区
文献类型:
--
作者:
Korsun, P.;Bals-Pratsch, M.;Germer, U.

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单绒毛膜双胞胎通常是同卵双胞胎,因此通常有相同的性别。一例单绒毛膜双胎双胞胎在IVF/ ICSI和激光治疗透明带(“辅助孵化”)后出现部分胚胎合并。在妊娠13 + 3周的详细产前超声检查中怀疑双胞胎性别不一致,并在随后的检查中得到证实。一对双胞胎出生时的性表型为雌性,另一对为雄性。胎盘组织学证实了单绒毛膜、双绒毛膜的情况。产后对双胎各组织进行细胞遗传学分析。在血淋巴细胞核型分析上,雌雄双胞胎各有一个雌雄细胞嵌合体。口腔粘膜细胞分别显示正常的男性和女性核型。尿路上皮分析显示,男婴尿路上皮结果正常,女婴尿路上皮呈弱的淋病体嵌合体,呈XX和XY星座。至少对于血液淋巴细胞,嵌合的诊断得到了证实。
Monochorionic twins are usually monozygotic and thus usually have the same sex. A case of monochorionic diamniotic twins following IVF/ ICSI and laser treatment of the zona pellucida ("assisted hatching") is presented in which partial embryo amalgamation appears to have occurred. Discordant sex between the twins was suspected on detailed antenatal ultrasound at 13 + 3 weeks gestation and was confirmed on subsequent examinations. The sexual phenotype at birth was female for one twin and male for the other. Placental histology confirmed the monochorionic, diamniotic situation. Cytogenetic analysis of both twins was carried out postpartum on various tissues. On karyotyping of blood lymphocytes the male and female twins each had one mosaic of male and female cells. Oral mucosal cells showed normal male and female karyotypes respectively. Analysis of urothelium showed a normal result for the male infant, and a weak gonosomal mosaic with an XX and XY constellation for the female infant. At least for blood lymphocytes, a diagnosis of chimerism was proven.