Prenatal diagnosis in Coffin-Lowry syndrome demonstrates germinal mosaicism confirmed by mutation analysis

2001 ◽  
Vol 21 (10) ◽  
pp. 881-884 ◽  
Author(s):  
Denise Horn ◽  
Jean-Pierre Delaunoy ◽  
J�rgen Kunze
Keyword(s):  
Prenatal Diagnosis ◽  
Mutation Analysis ◽  
Germinal Mosaicism

scholarly journals Mutation Analysis for Heterozygote Detection and the Prenatal Diagnosis of Cystic Fibrosis

1990 ◽  
Vol 322 (5) ◽  
pp. 291-296 ◽  
Author(s):  
Wanda K. Lemna ◽  
Gerald L. Feldman ◽  
Bat-sheva Kerem ◽  
Susan D. Fernbach ◽  
Elaine P. Zevkovich ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Prenatal Diagnosis ◽  
Mutation Analysis ◽  
Heterozygote Detection

scholarly journals Mutation analysis in the F8 gene in 485 families with haemophilia A and prenatal diagnosis in China

Haemophilia ◽  
2020 ◽  
Author(s):  
Yin Feng ◽  
Qianqian Li ◽  
Panlai Shi ◽  
Ning Liu ◽  
Xiangdong Kong ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Mutation Analysis ◽  
Haemophilia A

New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene

2004 ◽  
Vol 66 (1) ◽  
pp. 53-57 ◽  
Author(s):  
K Zerres ◽  
J Senderek ◽  
S Rudnik-Schöneborn ◽  
T Eggermann ◽  
J Kunze ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Polycystic Kidney

Mutation analysis for prenatal diagnosis of hereditary tyrosinaemia type 1

1997 ◽  
Vol 17 (10) ◽  
pp. 964-966 ◽  
Author(s):  
Aki Mustonen ◽  
Hans Kristian Ploos Van Amstel ◽  
Ruud Berger ◽  
Matti K. Salo ◽  
Lasse Viinikka ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Mutation Analysis ◽  
Tyrosinaemia Type ◽  
Tyrosinaemia Type 1

Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimesterARG1 mutation analysis

2004 ◽  
Vol 24 (11) ◽  
pp. 857-860 ◽  
Author(s):  
Stanley H. Korman ◽  
Alisa Gutman ◽  
Edia Stemmer ◽  
Barrie S. Kay ◽  
Ziva Ben-Neriah ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Mutation Analysis ◽  
Second Trimester ◽  
Arginase Deficiency

scholarly journals Prenatal diagnosis of organic acidemias at a tertiary center

2019 ◽  
Vol 22 (1) ◽  
pp. 29-34
Author(s):  
A Tanacan ◽  
BB Gurbuz ◽  
E Aydin ◽  
M Erden ◽  
T Coskun ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Mutation Analysis ◽  
Maternal Age ◽  
Maple Syrup ◽  
Organic Acidemias ◽  
Targeted Mutation ◽  
Prenatal Diagnostic ◽  
Tertiary Center ◽  
Gestational Week ◽  
Chorion Villus

AbstractThe aim of this study was to share our experience in the prenatal diagnosis (PND) of organic acidemias (OAs) in our clinic. This study consisted of 10 cases in whom an invasive prenatal diagnostic test (IPNDT) was performed by a single physician for the PND of OAs. Median maternal age, parity, gestational week of IPNDT, prenatal test indications, OA types, method of IPNDT, IPNDT results and gestational outcomes were evaluated. Targeted mutation analysis was performed in fetal DNA for the specific mutations by using polymerase chain reaction (PCR) and direct Sanger sequencing. The diagnosis was confirmed by genetic targeted mutation analysis after birth. Median maternal age, parity and gestational week of IPNDT values were 30 (range 21-35), one (range 0-4) and 11.5 (range 11-17), respectively. Indications for IPNDT were mother being a carrier of the disease for one case (10.0%) and at least one child with OA in the family for nine cases (90.0%). Organic acidemia types investigated were maple syrup urine disease (MSUD), methylmalonic acidemia (MMA) and isovaleric acidemia (IVA) in five (50.0%), three (30.0%) and two (20.0%) patients, respectively. Chorion villus sampling (CVS) was done in seven (70.0%) patients and amniocentesis was performed in three (30.0%) patients. Eight fetuses (80.0%) were found to be healthy and two fetuses (20.0%) were found to be affected (one case with IVA and one case with MMA). The two pregnancies (20.0%) with affected fetuses were terminated. Prenatal diagnosis of OAs is critical. Appropriate prenatal counseling should be given to families with known risk factors.

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