Prenatal diagnosis of rare form of chromosomal abnormality: double trisomy 48,XXX,+18 in the first trimester in association with spina bifida

2020 ◽  
Author(s):  
K.K. Otaryan , M.A. Kolyshkina , Y.B. Aninyan et all
Keyword(s):  
Prenatal Diagnosis ◽  
Spina Bifida ◽  
Neural Tube ◽  
Neural Tube Defect ◽  
Chromosomal Abnormality ◽  
First Trimester ◽  
Termination Of Pregnancy ◽  
Rare Form ◽  
Double Trisomy ◽  
Chorion Villus

The case of prenatal diagnosis of neural tube defect at 11+5 weeks of gestation is presented. Chorion villus sampling performed. Karyotyping revealed double trisomy (48,XXX,+18). Termination of pregnancy was performed at 13 weeks of gestation.

Detection of spina bifida in the first trimester of gestation in association with triploidy

2017 ◽  
Author(s):  
K.K. Otaryan , C.G. Gagaev
Keyword(s):  
Spina Bifida ◽  
Early Detection ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
First Trimester ◽  
Termination Of Pregnancy ◽  
Diagnostic Tools ◽  
Prenatal Detection ◽  
Post Abortion

The case of prenatal detection of spina bifida at 12+3 weeks of gestation is described. Termination of pregnancy was performed at 13+3 weeks. Post-abortion karyotyping revealed triploidy (69XXX). Diagnostic tools for early detection of neural tube defects in the 1st trimester of gestation and subsequent appropriate management of pregnancy are discussed.

scholarly journals Sirenomelia in Dicephalic parapagus twins discordant for anencephaly and spina bifida.

2020 ◽  
Vol 15 (1) ◽  
pp. 81-83
Author(s):  
Tripti Shrestha ◽  
Gehanath Baral ◽  
Nesuma Sedhain
Keyword(s):  
Spina Bifida ◽  
Key Words ◽  
Neural Tube ◽  
Neural Tube Defect ◽  
Congenital Anomalies ◽  
Rare Case ◽  
In Utero ◽  
Termination Of Pregnancy ◽  
High Incidence

An extremely rare case of sirenomelia in dicephalic parapagus twins discordant for anencephaly and spina bifida that was diagnosed after birth is presented. High incidence of congenital anomalies both with sirenomelia and parapagus twins independently make the prognosis much worse, with additional neural tube defect rendering it almost incompatible with life. Termination of pregnancy is advised when diagnosed in utero. Key words: anencephaly, dicephalic parapagus, spina bifida, sirenomelia

scholarly journals Prenatal diagnosis of a rare case of iniencephaly apertus

2018 ◽  
Vol 7 (4) ◽  
pp. 1635
Author(s):  
Mahy Mohsen ◽  
Ahmed El Sheikhah ◽  
Lamees Mohamed ◽  
Sief El-Eslam Ali ◽  
Armia Michael ◽  
...  
Keyword(s):  
Cervical Spine ◽  
Prenatal Diagnosis ◽  
Neural Tube ◽  
Neural Tube Defect ◽  
Rare Case ◽  
Termination Of Pregnancy ◽  
Cervical Region ◽  
Common Features ◽  
History Of ◽  
Medical Induction

Iniencephaly is a rare neural tube defect that was firstly reported by Saint-Hilaire in 1836. Its incidence ranges from 0.1 to 10 in 10,000 deliveries with higher incidence in females. The most common features present iniencephaly are bifida at the cervical region, defect in the occipital bone and retroflexion of the head on the cervical spine. Here we report a case of a 24 years old second gravida with a history of consanguinity. She presented with a malformed fetus at 22 weeks gestation diagnosed by detailed ultrasonographic anatomy scan as iniencephaly apparatus. Termination of pregnancy was performed vaginally through medical induction by prostaglandins.

Prenatal Diagnosis of Double Trisomy 48,XXX,+18 in the First Trimester

2005 ◽  
Vol 24 (5) ◽  
pp. 717-719 ◽  
Author(s):  
Victor Dezerega ◽  
Cecilia Be ◽  
Amy E. Wong ◽  
Rafael Silva ◽  
Waldo Sepulveda
Keyword(s):  
Prenatal Diagnosis ◽  
First Trimester ◽  
Double Trisomy

Prenatal diagnosis of spina bifida aperta after first-trimester valproate exposure

1992 ◽  
Vol 12 (11) ◽  
pp. 893-897 ◽  
Author(s):  
Juliette G. C. Omtzigt ◽  
Frans J. Los ◽  
Adriana M. Hagenaars ◽  
Patricia A. Stewart ◽  
Eva S. Sachs ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Spina Bifida ◽  
First Trimester ◽  
Spina Bifida Aperta
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