Antenatal Diagnosis of Fetal Genotype Determines if Maternal Hyperglycemia Due to a Glucokinase Mutation Requires Treatment

被引:42
作者
Chakera, Ali J. [2 ,3 ]
Carleton, Victoria L. [1 ,4 ]
Ellard, Sian [2 ,5 ]
Wong, Jencia [1 ,4 ]
Yue, Dennis K. [1 ,4 ]
Pinner, Jason [6 ]
Hattersley, Andrew T. [2 ,3 ]
Ross, Glynis P. [1 ]
机构
[1] Royal Prince Alfred Hosp, Dept Endocrinol, Sydney, NSW, Australia
[2] Univ Exeter, Peninsula Coll Med & Dent, Exeter, Devon, England
[3] Royal Devon & Exeter Hosp, Dept Diabet & Endocrinol, Exeter EX2 5DW, Devon, England
[4] Univ Sydney, Sydney, NSW 2006, Australia
[5] Royal Devon & Exeter Hosp, Dept Mol Genet, Exeter EX2 5DW, Devon, England
[6] Royal Prince Alfred Hosp, Dept Mol & Clin Genet, Sydney, NSW, Australia
关键词
PREGNANCY; GLUCOSE; SIZE; GENE;
D O I
10.2337/dc12-0151
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
OBJECTIVE-In women with hyperglycemia due to heterozygous glucokinase (GCK mutations, the fetal genotype determines its growth. If the fetus inherits the mutation, birth weight is normal when maternal hyperglycemia is not treated, whereas intensive treatment may adversely reduce fetal growth. However, fetal genotype is not usually known antenatally, making treatment decisions difficult. HISTORY AND EXAMINATION-We report two women with gestational diabetes mellitus resulting from GCK mutations with hyperglycemia sufficient to merit treatment. INVESTIGATION-In both women, DNA from chorionic villus sampling, performed after high-risk aneuploidy screening, showed the fetus had inherited the GCK mutation. Therefore, maternal hyperglycemia was not treated. Both offspring had a normal birth weight and no peripartum complications. CONCLUSIONS-In pregnancies where the mother has hyperglycemia due to a GCK mutation, knowing the fetal GCK genotype guides the management of maternal hyperglycemia. Fetal genotyping should be performed when fetal DNA is available from invasive prenatal diagnostic testing.
引用
收藏
页码:1832 / 1834
页数:3
相关论文
共 11 条
[1]  
Alfirevic Z., 2003, The Cochrane database of systematic reviews, pCD003252, DOI [10.1002/14651858, DOI 10.1002/14651858.CD003252, 10.1002/14651858.CD003252]
[2]   INSULIN SECRETORY ABNORMALITIES IN SUBJECTS WITH HYPERGLYCEMIA DUE TO GLUCOKINASE MUTATIONS [J].
BYRNE, MM ;
STURIS, J ;
CLEMENT, K ;
VIONNET, N ;
PUEYO, ME ;
STOFFEL, L ;
TAKEDA, J ;
PASSA, P ;
COHEN, D ;
BELL, GI ;
VELHO, G ;
FROGUEL, P ;
POLONSKY, KS .
JOURNAL OF CLINICAL INVESTIGATION, 1994, 93 (03) :1120-1130
[3]   Maturity onset diabetes of the young and pregnancy [J].
Colom, Cristina ;
Corcoy, Rosa .
BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM, 2010, 24 (04) :605-615
[4]   A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria [J].
Ellard, S ;
Beards, F ;
Allen, LIS ;
Shepherd, M ;
Ballantyne, E ;
Harvey, R ;
Hattersley, AT .
DIABETOLOGIA, 2000, 43 (02) :250-253
[5]   Mutations in the glucokinase gene of the fetus result in reduced birth weight [J].
Hattersley, AT ;
Beards, F ;
Ballantyne, E ;
Appleton, M ;
Harvey, R ;
Ellard, S .
NATURE GENETICS, 1998, 19 (03) :268-270
[6]   Intrauterine growth and its relationship to size and shape at birth [J].
Hindmarsh, PC ;
Geary, MPP ;
Rodeck, CH ;
Kingdom, JCP ;
Cole, TJ .
PEDIATRIC RESEARCH, 2002, 52 (02)
[7]   Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma [J].
Lun, Fiona M. F. ;
Tsui, Nancy B. Y. ;
Chan, K. C. Allen ;
Leung, Tak Y. ;
Lau, Tze K. ;
Charoenkwan, Pimlak ;
Chow, Katherine C. K. ;
Lo, Wyatt Y. W. ;
Wanapirak, Chanane ;
Sanguansermsri, Torpong ;
Cantor, Charles R. ;
Chiu, Rossa W. K. ;
Lo, Y. M. Dennis .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2008, 105 (50) :19920-19925
[8]   International Association of Diabetes and Pregnancy Study Groups Recommendations on the Diagnosis and Classification of Hyperglycemia in Pregnancy [J].
Metzger, Boyd E. ;
Gabbe, Steven G. ;
Persson, Bengt ;
Buchanan, Thomas A. ;
Catalano, Patrick M. ;
Damm, Peter ;
Dyer, Alan R. ;
de Leiva, Alberto ;
Hod, Moshe ;
Kitzmiller, John L. ;
Lowe, Lynn P. ;
McIntyre, H. David ;
Oats, Jeremy J. N. ;
Omori, Yasue ;
Schmidt, Maria Ines ;
Balaji, Vijayam ;
Callaghan, William M. ;
Chen, Rony ;
Conway, Deborah ;
Corcoy, Rosa ;
Coustan, Donald R. ;
Dabelea, Dana ;
Fagen, Cathy ;
Feig, Denice S. ;
Ferrara, Assiamira ;
Geil, Patti ;
Hadden, David R. ;
Hillier, Teresa A. ;
Hiramatsu, Yuji ;
Houde, Ghislaine ;
Inturissi, Maribeth ;
Jang, Hak C ;
Jovanovic, Lois ;
Kautsky-Willer, Alexandra ;
Kirkman, M. Sue ;
Kjos, Siri L. ;
Landon, Mark B. ;
Lapolla, Annunziata ;
Lowe, Julia ;
Mathiesen, H. Elisabeth R. ;
Mello, Giorgio ;
Meltzer, Sara J. ;
Moore, Thomas R. ;
Nolan, Christopher J. ;
Ovesen, Per ;
Pettitt, David ;
Reader, Diane M. ;
Rowan, Janet A. ;
Sacks, David A. ;
Schaefer-Graf, Ute .
DIABETES CARE, 2010, 33 (03) :676-682
[9]   Pregnancy outcome in patients with raised blood glucose due to a heterozygous glucokinase gene mutation [J].
Spyer, G. ;
Macleod, K. M. ;
Shepherd, M. ;
Ellard, S. ;
Hattersley, A. T. .
DIABETIC MEDICINE, 2009, 26 (01) :14-18
[10]   Influence of maternal and fetal glucokinase mutations in gestational diabetes [J].
Spyer, G ;
Hattersley, AT ;
Sykes, JE ;
Sturley, RH ;
MacLeod, KM .
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 2001, 185 (01) :240-241