Chih-Ping Chen1, Yi-Yung Chen, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Yu-Ting Chen, Chen-Chi Lee, Li-Feng Chen, Wayseen Wang. 1. Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: cpc_mmh@yahoo.com.
Abstract
OBJECTIVE: To present prenatal diagnosis of mosaic trisomy 2. MATERIALS AND METHODS: A 29-year-old woman underwent amniocentesis at 17 weeks of gestation because of abnormal maternal serum screening, and the cytogenetic result was 47,XY,+2[8]/46,XY[22]. She underwent repeated amniocentesis at 19 weeks of gestation. Interphase fluorescence in situ hybridization (FISH), array comparative genomic hybridization (aCGH), and quantitative fluorescent polymerase chain reaction (QF-PCR) were performed on uncultured amniocytes. Ultrasound at 22 weeks of gestation revealed severe oligohydramnios, intrauterine growth restriction, and ventricular septal defect. The pregnancy was terminated at 22 weeks of gestation. Cytogenetic analysis was performed on parental blood, cultured amniocytes, cord blood, skin, liver, lung, umbilical cord, amnion, and placenta. aCGH analysis was performed on cord blood, skin, and liver. RESULTS: In the samples of uncultured amniocytes, interphase FISH detected 11.1% (13/117) mosaicism for trisomy 2, aCGH analysis showed the result of arr [hg19] 2p25.3q37.3 (0-242,936,883)×2.46, and QF-PCR excluded uniparental disomy 2. QF-PCR on placenta revealed trisomy 2 derived from maternal meiosis I non-disjunction. Cytogenetic analysis revealed the following results: cultured amniocytes: 46,XY[21 colonies]; cord blood: 46,XY[40 cells]; skin: 46,XY[40 cells]; lung: 46,XY[40 cells]; liver: 47,XY,+2[4 cells]/46,XY[36 cells]; umbilical cord: 47,XY,+2[4 cells]/46,XY[36 cells]; amniotic membrane: 47,XY,+2[20 cells]/46,XY[20 cells]; and placenta: 47,XY,+2[40 cells]. The fetus postnatally manifested facial dysmorphism and preaxial polydactyly of the hand. CONCLUSION: Interphase FISH and aCGH analyses on uncultured amniocytes are useful for rapid confirmation of low-level mosaic trisomy 2 at amniocentesis.
OBJECTIVE: To present prenatal diagnosis of mosaic trisomy 2. MATERIALS AND METHODS: A 29-year-old woman underwent amniocentesis at 17 weeks of gestation because of abnormal maternal serum screening, and the cytogenetic result was 47,XY,+2[8]/46,XY[22]. She underwent repeated amniocentesis at 19 weeks of gestation. Interphase fluorescence in situ hybridization (FISH), array comparative genomic hybridization (aCGH), and quantitative fluorescent polymerase chain reaction (QF-PCR) were performed on uncultured amniocytes. Ultrasound at 22 weeks of gestation revealed severe oligohydramnios, intrauterine growth restriction, and ventricular septal defect. The pregnancy was terminated at 22 weeks of gestation. Cytogenetic analysis was performed on parental blood, cultured amniocytes, cord blood, skin, liver, lung, umbilical cord, amnion, and placenta. aCGH analysis was performed on cord blood, skin, and liver. RESULTS: In the samples of uncultured amniocytes, interphase FISH detected 11.1% (13/117) mosaicism for trisomy 2, aCGH analysis showed the result of arr [hg19] 2p25.3q37.3 (0-242,936,883)×2.46, and QF-PCR excluded uniparental disomy 2. QF-PCR on placenta revealed trisomy 2 derived from maternal meiosis I non-disjunction. Cytogenetic analysis revealed the following results: cultured amniocytes: 46,XY[21 colonies]; cord blood: 46,XY[40 cells]; skin: 46,XY[40 cells]; lung: 46,XY[40 cells]; liver: 47,XY,+2[4 cells]/46,XY[36 cells]; umbilical cord: 47,XY,+2[4 cells]/46,XY[36 cells]; amniotic membrane: 47,XY,+2[20 cells]/46,XY[20 cells]; and placenta: 47,XY,+2[40 cells]. The fetus postnatally manifested facial dysmorphism and preaxial polydactyly of the hand. CONCLUSION: Interphase FISH and aCGH analyses on uncultured amniocytes are useful for rapid confirmation of low-level mosaic trisomy 2 at amniocentesis.
Authors: Justyna Domaradzka; Marta Deperas; Ewa Obersztyn; Anna Kucińska-Chahwan; Nathalie Brison; Kris Van Den Bogaert; Tomasz Roszkowski; Marta Kędzior; Magdalena Bartnik-Głaska; Alicja Łuszczek; Krystyna Jakubów-Durska; Joris Robert Vermeesch; Beata Anna Nowakowska Journal: Mol Cytogenet Date: 2021-03-15 Impact factor: 2.009