Prenatal diagnosis of mosaic trisomy 16 by amniocentesis in a pregnancy associated with abnormal first-trimester screening result (low PAPP-A and low PlGF), intrauterine growth restriction and a favorable outcome
Objective: We present prenatal diagnosis of mosaic trisomy 16 by amniocentesis in a pregnancy associated with an abnormal first-trimester screening result, intrauterine growth restriction (IUGR) and a favorable outcome. Case report: A 27-year-old woman underwent amniocentesis at 18 weeks of gestatio...
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2021
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oai:doaj.org-article:c504b9042f4547cb839c7805cedb31552021-11-18T04:44:50ZPrenatal diagnosis of mosaic trisomy 16 by amniocentesis in a pregnancy associated with abnormal first-trimester screening result (low PAPP-A and low PlGF), intrauterine growth restriction and a favorable outcome1028-455910.1016/j.tjog.2021.09.026https://doaj.org/article/c504b9042f4547cb839c7805cedb31552021-11-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S1028455921002667https://doaj.org/toc/1028-4559Objective: We present prenatal diagnosis of mosaic trisomy 16 by amniocentesis in a pregnancy associated with an abnormal first-trimester screening result, intrauterine growth restriction (IUGR) and a favorable outcome. Case report: A 27-year-old woman underwent amniocentesis at 18 weeks of gestation because of an abnormal first-trimester screening result with maternal serum free β-hCG of 1.474 multiples of the median (MoM), pregnancy associated plasma protein-A (PAPP-A) of 0.122 MoM and placental growth factor (PlGF) of 0.101 MoM, and a Down syndrome risk of 1/45. Amniocentesis revealed a karyotype of 47,XY,+16 [9]/46,XY [16] and an abnormal array comparative genomic hybridization (aCGH) result of arr (16) × 3 [0.54] compatible with 54% mosaicism for trisomy 16 in uncultured amniocytes. At 24 weeks of gestation, repeat amniocentesis revealed a karyotype of 47,XY,+16 [4]/46,XY [16] and an aCGH result of arr 16p13.3q24.3 (96,766–90,567,357) × 2.25 with a log2 ratio = 0.2 compatible with 20–30% mosaicism for trisomy 16 in uncultured amniocytes. Quantitative fluorescent polymerase chain reaction (QF-PCR) excluded uniparental disomy (UPD) 16. Interphase fluorescence in situ hybridization (FISH) analysis on uncultured amniocytes revealed 19.4% (12/62 cells) mosaic trisomy 16. Prenatal ultrasound revealed IUGR. At 36 weeks of gestation, a phenotypically normal baby was delivered with a body weight of 1900 g. The cord blood had a karyotype of 46,XY. QF-PCR analysis confirmed biparentally inherited disomy 16 in the cord blood and maternal-origin of trisomy 16 in the placenta. When follow-up at age two months, FISH analysis on 101 buccal mucosal cells and 32 urinary cells revealed no signal of trisomy 16. Conclusion: Mosaic trisomy 16 at amniocentesis can be associated with IUGR and an abnormal first-trimester screening result with low PAPP-A and low PlGF. Mosaic trisomy 16 without UPD 16 at amniocentesis can have a favorable outcome, and the abnormal triosmy 16 cell line may disappear after birth.Chih-Ping ChenFei-Hua LanSchu-Rern ChernPeih-Shan WuShin-Wen ChenFang-Tzu WuChen-Chi LeeMeng-Shan LeeChen-Wen PanYun-Yi ChenWayseen WangElsevierarticleIntrauterine growth restrictionPAPP-APlGFPrenatal diagnosisMosaic trisomy 16Gynecology and obstetricsRG1-991ENTaiwanese Journal of Obstetrics & Gynecology, Vol 60, Iss 6, Pp 1107-1111 (2021) |
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DOAJ |
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DOAJ |
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EN |
| topic |
Intrauterine growth restriction PAPP-A PlGF Prenatal diagnosis Mosaic trisomy 16 Gynecology and obstetrics RG1-991 |
| spellingShingle |
Intrauterine growth restriction PAPP-A PlGF Prenatal diagnosis Mosaic trisomy 16 Gynecology and obstetrics RG1-991 Chih-Ping Chen Fei-Hua Lan Schu-Rern Chern Peih-Shan Wu Shin-Wen Chen Fang-Tzu Wu Chen-Chi Lee Meng-Shan Lee Chen-Wen Pan Yun-Yi Chen Wayseen Wang Prenatal diagnosis of mosaic trisomy 16 by amniocentesis in a pregnancy associated with abnormal first-trimester screening result (low PAPP-A and low PlGF), intrauterine growth restriction and a favorable outcome |
| description |
Objective: We present prenatal diagnosis of mosaic trisomy 16 by amniocentesis in a pregnancy associated with an abnormal first-trimester screening result, intrauterine growth restriction (IUGR) and a favorable outcome. Case report: A 27-year-old woman underwent amniocentesis at 18 weeks of gestation because of an abnormal first-trimester screening result with maternal serum free β-hCG of 1.474 multiples of the median (MoM), pregnancy associated plasma protein-A (PAPP-A) of 0.122 MoM and placental growth factor (PlGF) of 0.101 MoM, and a Down syndrome risk of 1/45. Amniocentesis revealed a karyotype of 47,XY,+16 [9]/46,XY [16] and an abnormal array comparative genomic hybridization (aCGH) result of arr (16) × 3 [0.54] compatible with 54% mosaicism for trisomy 16 in uncultured amniocytes. At 24 weeks of gestation, repeat amniocentesis revealed a karyotype of 47,XY,+16 [4]/46,XY [16] and an aCGH result of arr 16p13.3q24.3 (96,766–90,567,357) × 2.25 with a log2 ratio = 0.2 compatible with 20–30% mosaicism for trisomy 16 in uncultured amniocytes. Quantitative fluorescent polymerase chain reaction (QF-PCR) excluded uniparental disomy (UPD) 16. Interphase fluorescence in situ hybridization (FISH) analysis on uncultured amniocytes revealed 19.4% (12/62 cells) mosaic trisomy 16. Prenatal ultrasound revealed IUGR. At 36 weeks of gestation, a phenotypically normal baby was delivered with a body weight of 1900 g. The cord blood had a karyotype of 46,XY. QF-PCR analysis confirmed biparentally inherited disomy 16 in the cord blood and maternal-origin of trisomy 16 in the placenta. When follow-up at age two months, FISH analysis on 101 buccal mucosal cells and 32 urinary cells revealed no signal of trisomy 16. Conclusion: Mosaic trisomy 16 at amniocentesis can be associated with IUGR and an abnormal first-trimester screening result with low PAPP-A and low PlGF. Mosaic trisomy 16 without UPD 16 at amniocentesis can have a favorable outcome, and the abnormal triosmy 16 cell line may disappear after birth. |
| format |
article |
| author |
Chih-Ping Chen Fei-Hua Lan Schu-Rern Chern Peih-Shan Wu Shin-Wen Chen Fang-Tzu Wu Chen-Chi Lee Meng-Shan Lee Chen-Wen Pan Yun-Yi Chen Wayseen Wang |
| author_facet |
Chih-Ping Chen Fei-Hua Lan Schu-Rern Chern Peih-Shan Wu Shin-Wen Chen Fang-Tzu Wu Chen-Chi Lee Meng-Shan Lee Chen-Wen Pan Yun-Yi Chen Wayseen Wang |
| author_sort |
Chih-Ping Chen |
| title |
Prenatal diagnosis of mosaic trisomy 16 by amniocentesis in a pregnancy associated with abnormal first-trimester screening result (low PAPP-A and low PlGF), intrauterine growth restriction and a favorable outcome |
| title_short |
Prenatal diagnosis of mosaic trisomy 16 by amniocentesis in a pregnancy associated with abnormal first-trimester screening result (low PAPP-A and low PlGF), intrauterine growth restriction and a favorable outcome |
| title_full |
Prenatal diagnosis of mosaic trisomy 16 by amniocentesis in a pregnancy associated with abnormal first-trimester screening result (low PAPP-A and low PlGF), intrauterine growth restriction and a favorable outcome |
| title_fullStr |
Prenatal diagnosis of mosaic trisomy 16 by amniocentesis in a pregnancy associated with abnormal first-trimester screening result (low PAPP-A and low PlGF), intrauterine growth restriction and a favorable outcome |
| title_full_unstemmed |
Prenatal diagnosis of mosaic trisomy 16 by amniocentesis in a pregnancy associated with abnormal first-trimester screening result (low PAPP-A and low PlGF), intrauterine growth restriction and a favorable outcome |
| title_sort |
prenatal diagnosis of mosaic trisomy 16 by amniocentesis in a pregnancy associated with abnormal first-trimester screening result (low papp-a and low plgf), intrauterine growth restriction and a favorable outcome |
| publisher |
Elsevier |
| publishDate |
2021 |
| url |
https://doaj.org/article/c504b9042f4547cb839c7805cedb3155 |
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