Detection of paternal origin of fetal trisomy 21 in a pregnancy with isolated ventriculomegaly but without advanced parental age
Objective: We present detection of paternal origin of fetal trisomy 21 in a pregnancy with isolated ventriculomegaly but without advanced parental age. Case report: A 29-year-old pregnant woman was admitted to the hospital at 18 weeks of gestation for tocolytic treatment because of irregular uterine...
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doaj-78d90672ee5b4221985c40b18fd44f292020-11-25T03:42:46ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592020-07-01594610612Detection of paternal origin of fetal trisomy 21 in a pregnancy with isolated ventriculomegaly but without advanced parental ageChih-Ping Chen0Wan-Chun Huang1Schu-Rern Chern2Shin-Wen Chen3Fang-Tzu Wu4Meng-Shan Lee5Wayseen Wang6Department 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; Corresponding author. Department of Obstetrics and Gynecology, MacKay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei, Taiwan. Fax: +886 2 25433642, +886 2 25232448.Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, TaiwanObjective: We present detection of paternal origin of fetal trisomy 21 in a pregnancy with isolated ventriculomegaly but without advanced parental age. Case report: A 29-year-old pregnant woman was admitted to the hospital at 18 weeks of gestation for tocolytic treatment because of irregular uterine contractions. Her husband was 30 years old. The couple had a healthy daughter. Prenatal ultrasound incidentally found isolated ventriculomegaly, and subsequent amniocentesis revealed a karyotype of 47,XX,+21 in 20/20 colonies of cultured amniocytes. The pregnancy was terminated, and the fetus manifested characteristic craniofacial appearance of Down syndrome and hyposplastic middle phalanx of the fifth finger. Postnatal polymorphic DNA marker analysis on the DNAs extracted from the cord blood and parental bloods using quantitative fluorescent polymerase chain reaction (QF-PCR) showed a paternal origin of fetal trisomy 21. The father had a karyotype of 46, XY in 40/40 blood lymphocytes. Conclusion: QF-PCR is useful for rapid confirmation of prenatally detected fetal trisomy 21 and determination of paternal origin of fetal trisomy 21 especially in pregnancies with fetal structural abnormalities but without advanced parental age.http://www.sciencedirect.com/science/article/pii/S1028455920301248Quantitative fluorescent polymerase chain reactionPaternal originTrisomy 18Ventriculomegaly |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Chih-Ping Chen Wan-Chun Huang Schu-Rern Chern Shin-Wen Chen Fang-Tzu Wu Meng-Shan Lee Wayseen Wang |
spellingShingle |
Chih-Ping Chen Wan-Chun Huang Schu-Rern Chern Shin-Wen Chen Fang-Tzu Wu Meng-Shan Lee Wayseen Wang Detection of paternal origin of fetal trisomy 21 in a pregnancy with isolated ventriculomegaly but without advanced parental age Taiwanese Journal of Obstetrics & Gynecology Quantitative fluorescent polymerase chain reaction Paternal origin Trisomy 18 Ventriculomegaly |
author_facet |
Chih-Ping Chen Wan-Chun Huang Schu-Rern Chern Shin-Wen Chen Fang-Tzu Wu Meng-Shan Lee Wayseen Wang |
author_sort |
Chih-Ping Chen |
title |
Detection of paternal origin of fetal trisomy 21 in a pregnancy with isolated ventriculomegaly but without advanced parental age |
title_short |
Detection of paternal origin of fetal trisomy 21 in a pregnancy with isolated ventriculomegaly but without advanced parental age |
title_full |
Detection of paternal origin of fetal trisomy 21 in a pregnancy with isolated ventriculomegaly but without advanced parental age |
title_fullStr |
Detection of paternal origin of fetal trisomy 21 in a pregnancy with isolated ventriculomegaly but without advanced parental age |
title_full_unstemmed |
Detection of paternal origin of fetal trisomy 21 in a pregnancy with isolated ventriculomegaly but without advanced parental age |
title_sort |
detection of paternal origin of fetal trisomy 21 in a pregnancy with isolated ventriculomegaly but without advanced parental age |
publisher |
Elsevier |
series |
Taiwanese Journal of Obstetrics & Gynecology |
issn |
1028-4559 |
publishDate |
2020-07-01 |
description |
Objective: We present detection of paternal origin of fetal trisomy 21 in a pregnancy with isolated ventriculomegaly but without advanced parental age. Case report: A 29-year-old pregnant woman was admitted to the hospital at 18 weeks of gestation for tocolytic treatment because of irregular uterine contractions. Her husband was 30 years old. The couple had a healthy daughter. Prenatal ultrasound incidentally found isolated ventriculomegaly, and subsequent amniocentesis revealed a karyotype of 47,XX,+21 in 20/20 colonies of cultured amniocytes. The pregnancy was terminated, and the fetus manifested characteristic craniofacial appearance of Down syndrome and hyposplastic middle phalanx of the fifth finger. Postnatal polymorphic DNA marker analysis on the DNAs extracted from the cord blood and parental bloods using quantitative fluorescent polymerase chain reaction (QF-PCR) showed a paternal origin of fetal trisomy 21. The father had a karyotype of 46, XY in 40/40 blood lymphocytes. Conclusion: QF-PCR is useful for rapid confirmation of prenatally detected fetal trisomy 21 and determination of paternal origin of fetal trisomy 21 especially in pregnancies with fetal structural abnormalities but without advanced parental age. |
topic |
Quantitative fluorescent polymerase chain reaction Paternal origin Trisomy 18 Ventriculomegaly |
url |
http://www.sciencedirect.com/science/article/pii/S1028455920301248 |
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