在连续两次妊娠后，荧光原位杂交发现涉及两个外中心染色体末端的隐性易位，染色体微阵列结果为镜像成像。

IF 2 4区医学 Q2 OBSTETRICS & GYNECOLOGY

Taiwanese Journal of Obstetrics & Gynecology Pub Date : 2025-01-01 DOI:10.1016/j.tjog.2024.03.028

Yao-Lung Chang , Hsiu-Huei Peng , Hsueh-Chun Cheng , Chi-Yuan Chiang , Ho-Yen Chueh , Yu-Ting Lin , Chin-Pei Lee , Shuenn-Dyh Chang , Ming Chen

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引用次数: 0

摘要

目的：胎儿13q34微缺失是一种产前诊断的罕见疾病，可能存在胎儿发育异常，包括面部畸形、智力低下、发育迟缓等。我们报告了一名孕妇，其胎儿在妊娠20周时出现了0.24厘米的室间隔缺损，胎儿13q34（113610612-115092648）缺失。孕妇先前胎儿有13q34（113610612-115092648）重复，产前超声检查结果正常。进一步进行亲本核型、基于微阵列的比较基因组杂交（array CGH）和荧光原位杂交（FISH）研究来澄清这一问题。病例报告：一名44岁孕妇，羊膜穿刺术显示胎儿核型为46、XY、13qs，微阵列比较基因组杂交（array CGH）显示13q34（113610612-115092948）缺失。妊娠20周的产前超声显示胎儿结构正常，但室间隔缺损0.24 cm。父母强烈希望继续怀孕，即使可能出现精神或发育问题。追溯到她以前的怀孕，羊膜穿刺术显示以前的胎儿核型为正常的46，XX，阵列CGH显示13q34（113610612-115092948）重复。妊娠21周的产前超声显示胎儿结构正常。父母决定继续怀孕，婴儿足月出生，产后发育正常。亲本核型显示母方46、XX和父方46、XY、13qs，两组CGH均正常。进一步的父系FISH研究发现46，XY, t(13;22) （q34;p12）。{{{}} {{{}} {{}}acrop +, LMP1+, D13S1825+)，揭示了亚端粒13q和染色体22p臂的易位。基于这些发现，既往妊娠的胎儿核型应为46、XX、der（22）、t(13;22) （q34;p12）。arr[GRCh37] 13q34 （113610612-115092648） × 3部分。妊娠期胎儿核型应为46、XY、der（13）、t(13;22) （q34;p12）。arr[GRCh37] 13q34 （113610612-115092648） × 1 pat。结论：胎儿13q34微缺失可在产前超声检查中表现为胎儿室间隔缺损。胎儿13q34微重复与随后的胎儿13q34微缺失是罕见的。我们的病例强调了亲本核型、亲本阵列CGH结合FISH研究来澄清这一问题的重要性。

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Cryptic translocation involving two acrocentric chromosome ends revealed by fluorescence in situ hybridization after two consecutive pregnancies of which the results of chromosome microarray were mirror-imaged

Objective

Prenatal diagnosis of fetal 13q34 microdeletion is a rare condition, which may present with abnormal fetal development, including facial dysmorphism, mental retardation, and developmental delay. We present a pregnant woman in whom the fetus presented with a 0.24-cm ventricular septal defect at 20 weeks of gestation, with fetal 13q34 (113610612–115092648) deletion. Previous fetus of the woman had 13q34 (113610612–115092648) duplication and normal prenatal ultrasound findings. Further parental karyotype, parental microarray-based comparative genomic hybridization (array CGH), and fluorescence in situ hybridization (FISH) study were performed to clarify this issue.

Case Report

In a 44-year-old pregnant woman, amniocentesis revealed a fetal karyotype of 46, XY,13qs and microarray-based comparative genomic hybridization (array CGH) showed 13q34 (113610612–115092948) deletion. Prenatal ultrasound at 20 weeks of gestation revealed normal fetal structure except ventricular septal defect 0.24 cm. The parents had strong desire to continue pregnancy even the possibility of mental or developmental issues.

Tracing back to her previous pregnancy, amniocentesis for the previous fetal karyotype revealed a normal 46, XX, and array CGH showed 13q34 (113610612–115092948) duplication. Prenatal ultrasound at 21 weeks of gestation revealed normal fetal structure. The parents decided to continue pregnancy and the baby was born at term with normal postnatal development. Parental karyotyping revealed maternal 46, XX and paternal 46, XY,13qs, and both array CGH were normal. Further paternal FISH study found 46,XY, t(13;22) (q34;p12).ish t(13;22) (Acro-p++; Acro-p+, LMP1+, D13S1825+), revealing translocation of the subtelomeric 13q and chromosomal 22 p arm. Based on these findings, the fetal karyotype in previous pregnancy should be 46,XX,der(22), t(13;22) (q34;p12).arr[GRCh37] 13q34 (113610612–115092648) × 3 pat. The fetal karyotype in this pregnancy should be 46,XY,der(13), t(13;22) (q34;p12).arr[GRCh37] 13q34 (113610612–115092648) × 1 pat.

Conclusion

Fetal 13q34 microdeletion may present with fetal ventricular septal defect on prenatal ultrasound. Fetal 13q34 microduplication with subsequent fetal 13q34 microdeletion is rare. Our case underscores the importance of the parental karyotype, parental array CGH, combined with FISH study to clarify this issue.

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来源期刊

Taiwanese Journal of Obstetrics & Gynecology OBSTETRICS & GYNECOLOGY-

CiteScore

3.60

自引率

23.80%

发文量

207

审稿时长

4-8 weeks

期刊介绍： Taiwanese Journal of Obstetrics and Gynecology is a peer-reviewed journal and open access publishing editorials, reviews, original articles, short communications, case reports, research letters, correspondence and letters to the editor in the field of obstetrics and gynecology. The aims of the journal are to: 1.Publish cutting-edge, innovative and topical research that addresses screening, diagnosis, management and care in women''s health 2.Deliver evidence-based information 3.Promote the sharing of clinical experience 4.Address women-related health promotion The journal provides comprehensive coverage of topics in obstetrics & gynecology and women''s health including maternal-fetal medicine, reproductive endocrinology/infertility, and gynecologic oncology. Taiwan Association of Obstetrics and Gynecology.