Prenatal diagnosis and molecular cytogenetic characterization ofÂ chromosome 22q11.2 deletion syndrome associated with congenital heart defects.

[22q11.2 deletion syndrome]

To report prenatal diagnosis of 22 q 11 .2 deletion syndrome in a pregnancy with congenital heart defects in the fetus .A 26 -year -old , primigravid woman was referred for counseling at 24 weeks of gestation because of abnormal ultrasound findings of fetal congenital heart defects . The Level II ultrasound revealed a singleton fetus with heart defects including overriding aorta , small pulmonary artery , and ventricular septal defect . Cordocentesis was performed . The DNA extracted from the cord blood was analyzed by multiplex ligation-dependent amplification (MLPA ). The MLPA showed deletion in the DiGeorge syndrome (DGS ) critical region of chromosome 22 low copy number repeat (LCR ) 22 -A âˆ¼ C . Conventional cytogenetic analysis revealed a normal male karyotype . Repeated amniocentesis and cordocentesis were performed . Whole-genome array comparative genomic hybridization (aCGH ) on cord blood was performed . aCGH detected a 3 .07 -Mb deletion at 22 q 11 .21 . Conventional cytogenetic analysis of cultured amniocytes revealed a karyotype 46 ,XY . Metaphase fluorescence in situ hybridization (FISH ) analysis on cultured amniocytes confirmed an interstitial 22 q 11 .2 deletion .Prenatal ultrasound findings of congenital heart defects indicate that the fetuses are at increased risk for chromosome abnormalities . Studies for 22 q 11 .2 deletion syndrome should be considered adjunct to conventional karyotyping . Although FISH has become a standard procedure for diagnosis of 22 q 11 .2 deletion syndrome , MLPA can potentially diagnose a broader spectrum of abnormalities , and aCGH analysis has the advantage of refining the 22 q 11 .2 deletion breakpoints and detecting uncharacterized chromosome rearrangements or genomic imbalances .

Diseases
Validation

Diseases presenting "prenatal diagnosis" symptom

22q11.2 deletion syndrome

achondroplasia

adrenomyeloneuropathy

alexander disease

alpha-thalassemia

aromatase deficiency

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

classical phenylketonuria

cohen syndrome

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cystinuria

dentinogenesis imperfecta

epidermolysis bullosa simplex

harlequin ichthyosis

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

junctional epidermolysis bullosa

kindler syndrome

krabbe disease

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

monosomy 21

neonatal adrenoleukodystrophy

oculocutaneous albinism

omenn syndrome

phenylketonuria

primary hyperoxaluria type 1

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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