First-trimester prenatal diagnosis of tyrosinemia type I by amniotic fluid succinylacetone determination

1990 ◽  
Vol 10 (2) ◽  
pp. 133-134 ◽  
Author(s):  
C. Jakobs ◽  
F. Stellaard ◽  
E. A. Kvittingen ◽  
M. Henderson ◽  
R. Lilford
Keyword(s):  
Prenatal Diagnosis ◽  
Amniotic Fluid ◽  
First Trimester ◽  
Type I ◽  
Tyrosinemia Type I

Tyrosinemia type I—Diagnostic issues and prenatal diagnosis

2006 ◽  
Vol 73 (2) ◽  
pp. 163-165 ◽  
Author(s):  
Sunita Bijarnia ◽  
Ratna D. Puri ◽  
Jean Ruel ◽  
George F. Gray ◽  
Linda Jenkinson ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Type I ◽  
Tyrosinemia Type I

Congenital Erythropoietic Porphyria: Prenatal Diagnosis and Autopsy Findings in Two Sibling Fetuses

2001 ◽  
Vol 4 (2) ◽  
pp. 180-184 ◽  
Author(s):  
F. Daïkha-Dahmane ◽  
M. Dommergues ◽  
F. Narcy ◽  
M.C. Gubler ◽  
Y. Dumez ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Amniotic Fluid ◽  
Histological Examination ◽  
Autosomal Recessive ◽  
Dna Analysis ◽  
Autosomal Recessive Disease ◽  
Type I ◽  
Autopsy Findings ◽  
Congenital Erythropoietic Porphyria ◽  
Made In

Congenital erythropoietic porphyria is an autosomal recessive disease characterized by a deficiency of uroporphyrinogen III cosynthetase activity, with diffuse tissue accumulation of specific type I porphyrins. The diagnosis of this disease was made in two fetuses, who were siblings, and from a Caucasian nonconsanguinous family. The first fetus died in utero with hydrops fetalis and anemia, but without an etiopathogenic diagnosis. In the second case, the diagnosis was based on pink fluorescence of the amniotic fluid examined fortuitously in sunlight. DNA analysis showed that the fetus was heteroallelic for the mutation C73R. The autopsy showed brown skin, and at histological examination, porphyrin pigment was deposited in many tissues. Retrospectively, similar deposits were found in the tissues of the first fetus.

Prenatal diagnosis of mucolipidosis type II on first-trimester amniotic fluid

1990 ◽  
Vol 10 (4) ◽  
pp. 231-235 ◽  
Author(s):  
Livia Poenaru ◽  
Christine Mezard ◽  
Said Akli ◽  
Jean-François Oury ◽  
Yves Dumez ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Amniotic Fluid ◽  
First Trimester ◽  
Type Ii ◽  
Mucolipidosis Type

scholarly journals Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Jayesh J. Sheth ◽  
Chitra M. Ankleshwaria ◽  
Rajeshwari Pawar ◽  
Frenny J. Sheth
Keyword(s):  
Prenatal Diagnosis ◽  
Secondary Structure ◽  
Point Mutation ◽  
Splice Site ◽  
Experimental Program ◽  
Type I ◽  
Novel Mutations ◽  
Potential Donor ◽  
Tyrosinemia Type I ◽  
Fumarylacetoacetate Hydrolase

Carrier of tyrosinemia type I was diagnosed by sequencingFAH(fumarylacetoacetate hydrolase) gene. It leads to the identification of heterozygous status for both c.648C>G (p.Ile216Met) and c.1159G>A (p.Gly387Arg) mutations in exons 8 and 13, respectively, in the parents. The experimental program PolyPhen, SIFT, and MT predicts former missense point mutation as “benign” that creates a potential donor splice site and later one as “probably damaging” which disrupts secondary structure of protein.

scholarly journals A Case of Type I Sirenomelia Complicated by Severe Oligohydramnios in the First Trimester

2019 ◽  
Vol 2019 ◽  
pp. 1-6
Author(s):  
Atsushi Yoshida ◽  
Asumi Okumura ◽  
Masahiro Nakao ◽  
Ryo Suzuki
Keyword(s):  
Prenatal Diagnosis ◽  
Umbilical Artery ◽  
Renal Agenesis ◽  
First Trimester ◽  
Long Bone ◽  
Type I ◽  
Tissue Fusion ◽  
Single Umbilical Artery ◽  
Sonographic Examination ◽  
Bone Structures

Sirenomelia is a very rare congenital anomaly. Type I is the mildest type, and the long bone structures are all normally present with only soft tissue fusion. We experienced a case of type I sirenomelia complicated by severe oligohydramnios. Because of severe oligohydramnios, ultrasonographic images were not very clear. The associated findings with sirenomelia (single umbilical artery and bilateral renal agenesis) were helpful for the prenatal diagnosis of this disease. Detailed sonographic examination of the fetus was thought to be necessary for the accurate prenatal diagnosis of sirenomelia.

Chronic-Onset Hereditary Tyrosinemia Type I

2001 ◽  
Vol 20 (3) ◽  
pp. 241-244
Author(s):  
John Pohl ◽  
Catherine Hughes ◽  
Michael Farrell
Keyword(s):  
Type I ◽  
Tyrosinemia Type I ◽  
Hereditary Tyrosinemia

Extensive changes in liver gene expression induced by Hereditary Tyrosinemia type I are not normalized by treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC)

2003 ◽  
Vol 39 (6) ◽  
pp. 901-909 ◽  
Author(s):  
Marjanka C Luijerink ◽  
Saskia M.M Jacobs ◽  
Ellen A.C.M van Beurden ◽  
Leander P Koornneef ◽  
Leo W.J Klomp ◽  
...  
Keyword(s):  
Gene Expression ◽  
Type I ◽  
Tyrosinemia Type I ◽  
Liver Gene ◽  
Hereditary Tyrosinemia

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
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