scholarly journals Prenatal Diagnosis for Primary Immunodeficiency Disorders—An Overview of the Indian Scenario

2020 ◽  
Vol 11 ◽  
Author(s):  
Reetika Malik Yadav ◽  
Maya Gupta ◽  
Aparna Dalvi ◽  
Umair Ahmed Bargir ◽  
Gouri Hule ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Primary Immunodeficiency ◽  
Index Case ◽  
Genetic Disorders ◽  
Ethical Considerations ◽  
Phenotypic Analysis ◽  
Significant Burden ◽  
Post Test ◽  
Chorionic Villous Sampling

Prenatal Diagnosis (PND) forms an important part of primary preventive management for families having a child affected with primary immunodeficiency. Although individually sparse, collectively this group of genetic disorders represents a significant burden of disease. This paper discusses the prenatal services available for affected families at various centers across the country and the challenges and ethical considerations associated with genetic counseling. Mutation detection in the index case and analysis of chorionic villous sampling or amniocentesis remain the preferred procedures for PND and phenotypic analysis of cordocentesis sample is reserved for families with well-characterized index case seeking PND in the latter part of the second trimester of pregnancy. A total of 112 families were provided PND services in the last decade and the presence of an affected fetus was confirmed in 32 families. Post-test genetic counseling enabled the affected families to make an informed decision about the current pregnancy.

Prenatal Diagnosis of Classic Hemophilia

1979 ◽  
Author(s):  
L.W. Hoyer ◽  
M.J. Mahoney ◽  
J. Lazarchick ◽  
S. Firshein ◽  
B. Forget ◽  
...  
Keyword(s):  
At Risk ◽  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Factor Viii ◽  
Human Factor ◽  
Genetic Disorders ◽  
Plasma Samples ◽  
Severe Hemophilia ◽  
Control Range ◽  
Human Factor Viii

The diagnosis of classic hemophilia at 18-20 weeks of gestation has been accomplished by immunoradiometrie assays f or factor VIII on ffitsl blood obtained by fetoscopy. We have analyzed plasma samples for six male fetuses at risk for severe hemophilia and nine control fetuses for which fetoscopy was carried out to attempt prenatal diagnosis of other genetic disorders. Factor VIII coagulant antigen (VIII:C(Ag)) was measured with a human anti-factor VIII by an imraunoradiometric assay (J. Clin. Invest. 62:1048, 1978), VIII:C(Ag) values were 17-94 u/dl for the control (non-hemophiiic) samples. Factor VIII-related antigen (VIIIR:Ag), measured using rabbit anti-human factor VIII, was 50-155 u/dl in these samples. The ratio of VIII;C(Ag) to VIIIR:Ag was greater than 0.23 in all control plasmas. Three of the fetuses at risk for hemophilia had factor VIII values in the control range. The pregnancies were carried to term and the three boys had normal coagulation values. Three other fetal plasmas had no detectable VIII:C(Ag) and normal content of VIIIR:Ag, The diagnosis of severe hemophilia was confirmed in each case by analysis of abortus blood. This method extends our capacity to provide genetic counseling for families in which there is a risk of severe hemophilia.

scholarly journals GENETIC HETEROGENEITY OF BETA GLOBIN MUTATIONS AMONG ASIAN-INDIANS AND IMPORTANCE IN GENETIC COUNSELLING AND DIAGNOSIS

2013 ◽  
Vol 5 (1) ◽  
pp. e2013003 ◽  
Author(s):  
Ravindra Kumar ◽  
Kritanjali Singh ◽  
Inusha Panigrahi ◽  
Sarita Agarwal
Keyword(s):  
Health Care ◽  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Asian Indians ◽  
Thalassemia Major ◽  
Common Mutation ◽  
Beta Globin ◽  
Muslim Community ◽  
Significant Burden ◽  
Thalassemia Trait

There are an estimated 45 million carriers of β-thalassemia trait and about 12,000-15,000 infants with β-thalassemia major are born every year in India. The consanguinity rates are higher in India, and thalassemia major constitutes a significant burden on the health care system. In present study, β-thalassemia mutations were characterized in 300 thalassemia cases from 2007 to 2010 using ARMS-PCR and DNA sequencing. The five most common mutations accounted 79.3% of the studied chromosomes that includes IVS1-5(G>C), Cod 41-42(-TCTT), Cod8-9(+G), Cod16(-C) and 619bp del. Though IVS1-5(G>C) is most common mutation when all the communities were included, the percentage prevalence were calculated on sub caste basis and found that IVS1-5(G>C) percentage prevalence varied from 25 to 60 in Aroras & Khatris and Thakur respectively. Interestingly Cod41-42(-TCTT) mutation which is the second commonest among the mutations reported was totally absent in Kayasthas and Muslim community. These findings have implications for providing molecular diagnosis, genetic counseling and prenatal diagnosis to high risk couples of β-thalassemia. 

Prenatal Diagnosis of Genetic Disorders: Trials and Tribulations

1972 ◽  
Vol 18 (3) ◽  
pp. 179-187 ◽  
Author(s):  
Ronald G Davidson ◽  
Mario C Rattazzi
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Amniotic Fluid ◽  
Metabolic Diseases ◽  
Genetic Disorders ◽  
Second Trimester ◽  
Prenatal Detection ◽  
Amniotic Fluid Cells ◽  
Interpretation Of Results

Abstract Prenatal detection of genetic disorders by amniocentesis in the second trimester of pregnancy, followed by studies of amniotic fluid cells, has added a new dimension to genetic counseling. This paper reviews the technique, indications, results, and complications, with emphasis on the problem of interpretation of results, particularly in the detection of fetuses with metabolic diseases.

Prenatal diagnosis of genetic disorders

Science ◽  
1978 ◽  
Vol 200 (4344) ◽  
pp. 952-958 ◽  
Author(s):  
G. Omenn
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Disorders

Fetal ascites and oligohydramnios: Prenatal diagnosis of a sialic acid storage disease (index case)

1995 ◽  
Vol 15 (9) ◽  
pp. 864-867 ◽  
Author(s):  
P. Poulain ◽  
S. Odent ◽  
I. Maire ◽  
J. Milon ◽  
J. F. Proudhon ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Sialic Acid ◽  
Storage Disease ◽  
Index Case ◽  
Disease Index ◽  
Sialic Acid Storage Disease

scholarly journals Follow-up in Patients With Non-invasive Prenatal Screening Failures: A Reflection on the Choice of Further Prenatal Diagnosis

2021 ◽  
Vol 12 ◽  
Author(s):  
Sha Liu ◽  
Hongqian Liu ◽  
Jianlong Liu ◽  
Ting Bai ◽  
Xiaosha Jing ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Detection Methods ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Non Invasive

BackgroundOur aim was to provide a theoretical basis for clinicians to conduct genetic counseling and choose further prenatal diagnosis methods for pregnant women who failed non-invasive prenatal screening (NIPS).MethodsA retrospective analysis was performed on pregnant women who had failed NIPS tests.ResultsAmong the 123,291 samples, 394 pregnant women did not obtain valid results due to test failures. A total of 378 pregnant women were available for follow-up, while 16 patients were lost to follow-up. Of these 378, 135 pregnant women chose further prenatal diagnosis through amniocentesis, and one case of dysplasia was recalled for postpartum chromosome testing. The incidence rate of congenital chromosomal abnormalities in those who failed the NIPS was 3.97% (15/378), which was higher than that of the chromosomal abnormalities in the common population (1.8%). Among the pregnant women who received prenatal diagnosis, the positive rates of chromosomal abnormalities in the chromosomal microarray analysis/copy number variation sequencing (CMA/CNV-seq) group and in the karyotyping group were 15.28 and 4.76%, respectively.ConclusionPrenatal diagnosis should be strongly recommended in posttest genetic counseling for pregnant women with NIPS failures. Further, high-resolution detection methods should be recommended for additional prenatal diagnoses.

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