Detection of paternal origin of fetal de novo rea(21q;21q) down syndrome in a pregnancy of a young woman associated with an abnormal first-trimester maternal serum screening result
Copyright © 2022. Published by Elsevier B.V..
OBJECTIVE: We present detection of paternal origin of fetal de novo rea(21q;21q) Down syndrome in a pregnancy of a young woman associated with an abnormal first-trimester maternal serum screening result.
CASE REPORT: A 26-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of an abnormal first-trimester screening result of 1/139 risk of Down syndrome calculated by 3.109 multiples of the median (MoM) of maternal serum free β-hCG and 0.454 MoM of pregnancy associated plasma protein-A (PAPP-A). Her husband was 29 years old, and the couple had a 1-year-old healthy daughter. Amniocentesis revealed a karyotype of 46,XX,+21,der(21;21)(q10;q10). The pregnancy was terminated at 19 weeks of gestation, and a malformed fetus was delivered. The parental karyotypes were normal. Postnatal analysis of the umbilical cord showed a karyotype of 46,XX,+21,der(21;21) (q10;q10). Polymorphic DNA marker analysis on the DNA extracted from parental bloods and umbilical cord confirmed a paternal origin of the de novo rea(21q;21q) Down syndrome.
CONCLUSION: Prenatal diagnosis of de novo rea(21q;21q) Down syndrome should include a polymorphic DNA marker analysis of the parental origin, and the acquired information is useful for genetic counseling of the recurrence of unbalanced rea(21q;21q) offspring and the determination of low-level tissue mosaicism or gonadal mosaicism in one of the parents.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2022 |
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| Erschienen: |
2022 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:61 |
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| Enthalten in: |
Taiwanese journal of obstetrics & gynecology - 61(2022), 2 vom: 05. März, Seite 356-358 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Chen, Chih-Ping [VerfasserIn] |
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| Anmerkungen: |
Date Completed 04.04.2022 Date Revised 05.04.2022 published: Print Citation Status MEDLINE |
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| doi: |
10.1016/j.tjog.2022.02.028 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM338913912 |
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| 245 | 1 | 0 | |a Detection of paternal origin of fetal de novo rea(21q;21q) down syndrome in a pregnancy of a young woman associated with an abnormal first-trimester maternal serum screening result |
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| 500 | |a Date Revised 05.04.2022 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2022. Published by Elsevier B.V. | ||
| 520 | |a OBJECTIVE: We present detection of paternal origin of fetal de novo rea(21q;21q) Down syndrome in a pregnancy of a young woman associated with an abnormal first-trimester maternal serum screening result | ||
| 520 | |a CASE REPORT: A 26-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of an abnormal first-trimester screening result of 1/139 risk of Down syndrome calculated by 3.109 multiples of the median (MoM) of maternal serum free β-hCG and 0.454 MoM of pregnancy associated plasma protein-A (PAPP-A). Her husband was 29 years old, and the couple had a 1-year-old healthy daughter. Amniocentesis revealed a karyotype of 46,XX,+21,der(21;21)(q10;q10). The pregnancy was terminated at 19 weeks of gestation, and a malformed fetus was delivered. The parental karyotypes were normal. Postnatal analysis of the umbilical cord showed a karyotype of 46,XX,+21,der(21;21) (q10;q10). Polymorphic DNA marker analysis on the DNA extracted from parental bloods and umbilical cord confirmed a paternal origin of the de novo rea(21q;21q) Down syndrome | ||
| 520 | |a CONCLUSION: Prenatal diagnosis of de novo rea(21q;21q) Down syndrome should include a polymorphic DNA marker analysis of the parental origin, and the acquired information is useful for genetic counseling of the recurrence of unbalanced rea(21q;21q) offspring and the determination of low-level tissue mosaicism or gonadal mosaicism in one of the parents | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Down syndrome | |
| 650 | 4 | |a Isochromosome 21 | |
| 650 | 4 | |a rea(21q;21q) | |
| 700 | 1 | |a Jou, Quan-Bin |e verfasserin |4 aut | |
| 700 | 1 | |a Chern, Schu-Rern |e verfasserin |4 aut | |
| 700 | 1 | |a Chen, Shin-Wen |e verfasserin |4 aut | |
| 700 | 1 | |a Wu, Fang-Tzu |e verfasserin |4 aut | |
| 700 | 1 | |a Chen, Wen-Lin |e verfasserin |4 aut | |
| 700 | 1 | |a Wang, Wayseen |e verfasserin |4 aut | |
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