Disease relevance of Prenatal Diagnosis

• These cases illustrate the potential usefulness of fetal plasma for prenatal diagnosis and, specifically, of creatine phosphokinase activity for diagnosis of muscular dystrophy [1].
• Prenatal diagnosis of congenital toxoplasmosis with a polymerase-chain-reaction test on amniotic fluid [2].
• Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria [3].
• Enhanced dexamethasone resistance in cystic fibrosis cells: potential use for heterozygote detection and prenatal diagnosis [4].
• It is suggested that a monoclonal-antibody-based immunoassay may displace polyacrylamide gel electrophoretic analysis of AChE as a complementary test to AFP in prenatal diagnosis of neural-tube defects, since it is a quantitative test largely independent of operator skill and experience [5].

Psychiatry related information on Prenatal Diagnosis

• These features may make the DHPR cDNA clone a useful probe not only for prenatal diagnosis of DHPR deficiency but also for linkage studies of Huntington's disease [6].

High impact information on Prenatal Diagnosis

• Prenatal diagnosis of hereditary protein C deficiency [7].
• Prenatal diagnosis of alpha 1-antitrypsin deficiency by direct analysis of the mutation site in the gene [8].
• Similar findings in cultured amniocytes from 3 of 14 women in whom the fetus was at risk of the Zellweger syndrome permitted prenatal diagnosis [9].
• This observation can be used in prenatal diagnosis of beta 0-thalassemia in Sardina, since demonstration of the 22.0-kb fragment would indicate the normal beta-globin genotype and exclude the beta 0-thalassemia lesion on that chromosome [10].
• Sounding board: Antenatal diagnosis, alpha fetoprotein and the FDA [11].

Chemical compound and disease context of Prenatal Diagnosis

• Proteinuria and prenatal diagnosis of congenital nephrosis in fetal carriers of nephrin gene mutations [12].
• Primary hyperoxaluria type I: oxalate and glycolate unsuitable for prenatal diagnosis [13].
• Prenatal diagnosis of congenital adrenal hyperplasia: reliability of amniotic fluid steroid analysis [14].
• Feasibility of prenatal diagnosis of nonketotic hyperglycinemia: existence of the glycine cleavage system in placenta [15].
• Stable isotope dilution analysis of galactitol in amniotic fluid: an accurate approach to the prenatal diagnosis of galactosemia [16].

Biological context of Prenatal Diagnosis

• The finding of an 87% allele frequency of the G1528C mutation in 34 LCHAD deficient patients makes this a valuable test for prenatal diagnosis [17].
• These studies show that cells cultured from second trimester amniotic fluid have collagen lysyl hydroxylase activity similar to that in dermal fibroblasts, making prenatal diagnosis of lysyl hydroxylase deficiency possible [18].
• Analysis of haplotypes in CF pedigrees collected for linkage studies combined with data from single affected families requesting prenatal diagnosis (Farrall et al., Lancet i:1402-1404, 1986) shows CF and met to be in linkage equilibrium in our population while pJ3.11-CF haplotypes show a deviation from the equilibrium frequencies [19].
• During a routine prenatal diagnosis we detected a female fetus with an apparent terminal deletion of an X chromosome with a karyotype 46,X,del(X)(q25); the mother, who later underwent premature ovarian failure, had the same Xq deletion [20].
• DNA sequences from the IRP locus that recognize RFLPs are proving to be highly informative for prenatal diagnosis [21].

Anatomical context of Prenatal Diagnosis

• These data suggest that the dexamethasone resistance previously observed in skin fibroblasts may also be useful in the prenatal diagnosis of CF [4].
• The prenatal diagnosis of ornithine transcarbamylase deficiency (OTCD) was made by using radioactive microassays for ornithine transcarbamylase (OTC) and--as an internal control--carbamyl phosphate synthetase (CPS I) in liver biopsy material from two 19-week-old at-risk fetuses [22].
• Cells obtained by amniocentesis for prenatal diagnosis were grown in vitro and examined for the presence of a glycoprotein component epithelial basement membrane [23].
• Two of the hepatocyte preparations were used for cell transplantation in a 1-day-old boy with an antenatal diagnosis of a severe urea cycle defect caused by ornithine transcarbamylase deficiency [24].
• A diagnosis of hypohidrotic ectodermal dysplasia was also excluded (97.5% probability) by DNA and linkage analyses from a sample of cord blood from an at-risk male; a similar approach can be taken for prenatal diagnosis of the disorder [25].

Associations of Prenatal Diagnosis with chemical compounds

• The fourth family was evaluated by fluorescence in situ hybridization for prenatal diagnosis, and both the DAX1 locus and the contiguous glycerol kinase region were deleted [26].
• Antenatal diagnosis of combined xanthine and sulphite oxidase deficiencies [27].
• Fetal liver biopsy for prenatal diagnosis of ornithine carbamyl transferase deficiency [28].
• Prenatal diagnosis of limb-reduction defects due to maternal cocaine use [29].
• Prenatal diagnosis of pyruvate kinase deficiency [30].

Gene context of Prenatal Diagnosis

• We describe a novel homozygous null mutation of the PKLR gene found in a girl with a prenatal diagnosis of PK deficiency [31].
• Since dominant OI can be due to mutations at either of two loci (COL1A1 and COL1A2) prenatal diagnosis becomes feasible in the majority of the affected families only if a very informative marker is available for both of these genes [32].
• These results further support the implication of the MTM1 gene in XLMTM and allow efficient and reliable carrier and prenatal diagnosis in these families [33].
• Altogether, with a PIC value of 0.64 for APOC2, 0.69 for CKMM, and 0.27 for D19S51 (BglI), presymptomatic and prenatal diagnosis can thus be offered to approximately 24% of persons with a risk between 0.0004 and 0.0008 using these flanking markers [34].
• The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis [35].

Analytical, diagnostic and therapeutic context of Prenatal Diagnosis

• The identification of H-Y may aid in transplantation prognosis, prenatal diagnosis, and fertilization strategies [36].
• OTC deficiency joins the growing list of genetic disorders for which Southern blot analysis allows accurate heterozygote detection and prenatal diagnosis in conditions for which they were not previously available [37].
• Because the CYP21B gene is located within the HLA complex and is very tightly linked to HLA markers, HLA typing is widely used for prenatal diagnosis and identifying heterozygous family members [38].
• Although the determination of AFP levels in maternal blood and amniotic fluid is widely used in the prenatal diagnosis of NTDs, demonstration of AFP in amniotic fluid cells by means of immunocytochemistry has not been described [39].
• Improved prenatal diagnosis of congenital human cytomegalovirus infection by a modified nested polymerase chain reaction [40].

References