The prenatal diagnosis of congenital disorders of glycosylation (CDG)

Matthijs, Gert; Schollen, E; Schaftingen, Emile Van

doi:10.1002/pd.815

Cited by 24 publications

(8 citation statements)

References 11 publications

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“…In our review, isoelectric focusing (IEF) was performed postnatally in 10 patients, six of whom reported abnormalities indicating CDG. Prenatal diagnosis of CDG can be performed by measuring enzyme activity in amniocytes or trophoblasts . However, prenatal diagnosis by enzyme assay can give false positive results because of the low values of the enzyme in poorly growing amniocytes when the fetus is not affected.…”

Section: Discussionmentioning

confidence: 99%

“…Prenatal diagnosis of CDG can be performed by measuring enzyme activity in amniocytes or trophoblasts. 38 However, prenatal diagnosis by enzyme assay can give false positive results because of the low values of the enzyme in poorly growing amniocytes when the fetus is not affected. Prenatal diagnostic analysis of serum transferrin is unreliable.…”

Section: Discussionmentioning

confidence: 99%

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Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review

Makhamreh

Cottingham

Ferreira

et al. 2019

J of Inher Metab Disea

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Numerous etiologies may lead to nonimmune hydrops fetalis (NIHF) including congenital disorders of glycosylation (CDG). Recognition of CDG in NIHF is challenging. This study reviews prenatal and neonatal characteristics of CDG presenting with NIHF. A systematic literature search was performed. Thirteen articles met the inclusion criteria. Twenty‐one cases with NIHF associated with a CDG were reported. There were 17 live births, three pregnancy terminations, and one fetal demise. Timing of CDG diagnosis was reported mostly postnatally (90%; 10/11). Postnatal genetic testing was reported in 18 patients; three patients were diagnosed by isoelectric focusing of serum transferrin that showed a type 1 pattern. The genes reported for CDG with NIHF for 15 distinct families include: PMM2 in 47% (7/15), ALG9 in 20% (3/15), ALG8 in 13% (2/15), ALG1 in 7% (1/15), MGAT2 in 7% (1/15), and COG6 7% (1/15). In our review, 81% (17/21) reported facial dysmorphism, 52% (11/21) reported CNS abnormalities, most commonly cerebellar atrophy (64%; 7/11), and 38% (8/21) reported cardiovascular abnormalities, most commonly hypertrophic cardiomyopathy (63%; 5/8). Among live births, 71% (12/17) infants died at a median age of 34 days (range 1‐185). Thrombocytopenia was reported in 53% (9/17) patients. Of those who survived past the neonatal period, 80% (4/5) had significant reported developmental delays. CDG should be on the differential diagnosis of NIHF in the presence of cerebellar atrophy, hypertrophic cardiomyopathy, or thrombocytopenia. Our review highlights the poor prognosis in infants with NIHF due to CDG and demonstrates the importance of identifying these disorders prenatally to guide providers in their counseling with families regarding pregnancy management. Synopsis Poor prognosis in fetuses and infants with nonimmune hydrops fetalis due to congenital disorders of glycosylation highlights the importance of prenatal diagnosis of this disorder.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review

Makhamreh

Cottingham

Ferreira

et al. 2019

J of Inher Metab Disea

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“…Mutation analysis is therefore the preferred method of prenatal diagnosis in families with a previous child with CDG-Ia. 29 In cases of unexplained hydrops fetalis, additional DNA analysis might be useful when the PMM activities are inconsistent and/ or there is a high index of suspicion. These tests of course fail to diagnose other subtypes of CDG-I that might also be associated with hydrops such as CDG-Ik.…”

Section: Discussionmentioning

confidence: 99%

Congenital disorder of glycosylation type Ia presenting with hydrops fetalis

Kamp

Lefeber

Ruijter

et al. 2007

Journal of Medical Genetics

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“…This is the first report of abnormal transferrin isoforms in a fetus. This method of diagnosing CDG-Ia has previously been considered to be unreliable before the first month of life, based on cases with falsenegative results (Clayton et al, 1993;Marquardt and Denecke, 2003;Matthijs et al, 2004;Denecke et al, 2005). However, patterns characteristic of CDG-I and CDG-II in one analysis appeared to be independent of age (Helander et al, 2004).…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of congenital disorder of glycosylation type Ia (CDG‐Ia) by cordocentesis and transferrin isoelectric focussing of serum of a 27‐week fetus with non‐immune hydrops

et al. 2006

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Blood was obtained by cordocentesis from a fetus with non-immune hydrops demonstrated by ultrasound scanning at 27 weeks' gestation. Abnormalities of serum transferrin isoelectric focussing (IEF) were identified, characteristic of a congenital disorder of glycosylation type I (CDG-Ia). A diagnosis of CDG-Ia was confirmed by enzyme analysis of cultured amniocytes. This is the first report of CDG-Ia diagnosed by serum analysis in a fetus. Previous reports have warned that diagnostic abnormalities do not appear in serum until several weeks after birth. The sensitivity of cordocentesis transferrin IEF is unknown but is less than 100% effective because cases have been diagnosed postnatally after normal prenatal or neonatal studies. Enzyme analysis or mutation analysis is required for diagnosis of congenital disorder of glycosylation (CDGs) regardless of whether a diagnostic transferrin pattern is identified prenatally. The analysis of a small sample of serum, from cordocentesis, performed to check for fetal anemia, simplified the investigation, diagnosis, and genetic counselling of a case of non-immune hydrops detected at 27 weeks' gestation. This might be a useful test for other cases in these circumstances, as fetal blood is usually collected to check for anemia.

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The prenatal diagnosis of congenital disorders of glycosylation (CDG)

Cited by 24 publications

References 11 publications

Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review

Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review

Congenital disorder of glycosylation type Ia presenting with hydrops fetalis

Prenatal Diagnosis of congenital disorder of glycosylation type Ia (CDG‐Ia) by cordocentesis and transferrin isoelectric focussing of serum of a 27‐week fetus with non‐immune hydrops

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