The use of cloned Y chromosome-specific DNA probes for fetal sex determination in first trimester prenatal diagnosis

1984 ◽  
Vol 66 (4) ◽  
pp. 347-351 ◽  
Author(s):  
J. R. Gosden ◽  
C. M. Gosden ◽  
S. Christie ◽  
H. J. Cooke ◽  
J. M. Morsman ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Sex Determination ◽  
Y Chromosome ◽  
First Trimester ◽  
Dna Probes ◽  
Fetal Sex

RAPID FETAL SEX DETERMINATION IN FIRST TRIMESTER PRENATAL DIAGNOSIS BY DOT HYBRIDISATION OF DNA PROBES

The Lancet ◽  
1984 ◽  
Vol 323 (8376) ◽  
pp. 540-541 ◽  
Author(s):  
J.R Gosden ◽  
S Christie ◽  
C.M Gosden ◽  
J.M Morsman ◽  
C.H Rodeck
Keyword(s):  
Prenatal Diagnosis ◽  
Sex Determination ◽  
First Trimester ◽  
Dna Probes ◽  
Fetal Sex

scholarly journals Early and Accurate Sex Determination by qPCR of Y Chromosome Repetitive Sequence (YRS) In Cell-Free Fetal DNA from Maternal Plasma

2018 ◽  
Vol 3 (3) ◽  
pp. 346-356 ◽  
Author(s):  
Ditte Jacobsen ◽  
Grethe Risum Krog ◽  
Frederik Banch Clausen
Keyword(s):  
Sex Determination ◽  
Y Chromosome ◽  
Repetitive Sequence ◽  
Quantitative Polymerase Chain Reaction ◽  
First Trimester ◽  
Maternal Plasma ◽  
Fetal Sex ◽  
Blood Samples ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

Abstract Background Circulating cell-free fetal DNA (cffDNA) provides the opportunity for noninvasive prenatal diagnosis. Early knowledge of the fetal sex is essential in cases with a risk of a sex-linked genetic disease. A reliable and highly sensitive sex determination test is required for first trimester testing because of the low amounts of cffDNA. Methods First trimester blood samples from 326 pregnant women were analyzed by real-time quantitative polymerase chain reaction (qPCR) for the presence of Y chromosome repetitive sequence (YRS). Blood samples were collected from gestational weeks 4–12. Fetal sex was predicted on the basis of results from the YRS assay of cffDNA extracted from maternal plasma. The predicted sex was compared with the phenotypic sex of the newborn baby (n = 294). Results There was high concordance between the test results from the YRS assay and the actual sex at birth. There were no false-positive results, indicating agreement between male YRS results and male sex at birth. Two results were false negative (from gestational weeks 4 and 6) predicting female fetuses, when the actual sex at birth was male. Overall, the sensitivity of the YRS assay was 98.6% (95% CI, 95.1%–99.8%), specificity was 100% (95% CI, 97.5%–100%), and accuracy was 99.3% (95% CI, 97.5%–99.9%). From 7 weeks of gestation, sensitivity, specificity, and accuracy were 100%. Conclusions This study shows that qPCR can be used to detect and quantify repetitive DNA sequences from 0.3 genome equivalents per milliliter of plasma. Prenatal sex determination by qPCR of YRS in cffDNA from maternal plasma was reliable and robust with cffDNA extracted from 1 mL of nonhemolyzed plasma, with a plasma equivalent per PCR of 167 μL. The YRS assay can be used for early noninvasive prenatal sex determination from a gestational age of 7 weeks.

Two unusual cases of first trimester prenatal diagnosis of cystic fibrosis using DNA probes

1987 ◽  
Vol 7 (3) ◽  
pp. 215-221 ◽  
Author(s):  
H.-Y. Law ◽  
P. Stanier ◽  
R. Williamson ◽  
B. Modell ◽  
R. H. T. Ward ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Prenatal Diagnosis ◽  
First Trimester ◽  
Dna Probes

Mapping the Y chromosome

Development ◽  
1987 ◽  
Vol 101 (Supplement) ◽  
pp. 39-39
Author(s):  
P. N. Goodfellow
Keyword(s):  
Sex Determination ◽  
Y Chromosome ◽  
X Chromosome ◽  
Dna Probes ◽  
Genetic Maps ◽  
Variable Amount ◽  
Regional Localization ◽  
Y Chromosomes ◽  
Xx Males ◽  
Human Y Chromosome

DNA probes isolated from the human Y chromosome have been used to resolve two fundamental problems concerning the biology of sex determination in man. Coincidentally, resolution of these problems has generated genetic maps of the short arm of the human Y chromosome and has allowed the regional localization of TDF. The first problem to be solved was the origin of XX males (de la Chapelle, this symposium): the majority of XX males are caused by a telomeric exchange between the X and Y chromosomes that results in TDF and a variable amount of Y-derived material being transferred to the X chromosome. The differing amounts of Y-derived material present in XX males has been used as the basis of a ‘deletion’ map of the Y chromosome (Müller; Ferguson-Smith & Affara; this symposium).

FIRST TRIMESTER PRENATAL DIAGNOSIS OF HEMOPHILIA A BY COMBINED USE OF DNA PROBES

1987 ◽  
pp. 21-23
Author(s):  
M. SAMPIETRO ◽  
M. ROMANO ◽  
F. FIORELLI ◽  
B. BRAMBATI ◽  
S. GUERNERI ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Hemophilia A ◽  
First Trimester ◽  
Dna Probes ◽  
Combined Use

First-trimester fetal sex determination in maternal serum using real-time PCR

2001 ◽  
Vol 21 (12) ◽  
pp. 1070-1074 ◽  
Author(s):  
Jean-Marc Costa ◽  
Alexandra Benachi ◽  
Evelyne Gautier ◽  
Jean-Marie Jouannic ◽  
Pauline Ernault ◽  
...  
Keyword(s):  
Sex Determination ◽  
Real Time ◽  
Real Time Pcr ◽  
First Trimester ◽  
Maternal Serum ◽  
Fetal Sex

FIRST-TRIMESTER PRENATAL DIAGNOSIS FOR HUNTINGTON'S DISEASE WITH DNA PROBES

The Lancet ◽  
1987 ◽  
Vol 329 (8545) ◽  
pp. 1284-1285 ◽  
Author(s):  
MichaelR. Hayden ◽  
JohnJ.P. Kastelein ◽  
R.Douglas Wilson ◽  
Chantal Hilbert ◽  
Jeffrey Hewitt ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
First Trimester ◽  
Dna Probes

805: Utilization of maternal blood on Guthrie card for first trimester screen for noninvasive fetal sex determination and RhD genotyping

2012 ◽  
Vol 206 (1) ◽  
pp. S354
Author(s):  
Yali Xiong ◽  
Indhu M. Prabhakaran ◽  
Eliezer J. Holtzman ◽  
Stacey Jeronis ◽  
Dan A. Liebermann ◽  
...  
Keyword(s):  
Sex Determination ◽  
First Trimester ◽  
Maternal Blood ◽  
Fetal Sex ◽  
Guthrie Card
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