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24-h ambulatory blood pressure is linked to chromosome 18q21-22 and genetic variation of NEDD4L associates with cross-sectional and longitudinal blood pressure in Swedes.

https://arctichealth.org/en/permalink/ahliterature81774
Source
Kidney Int. 2006 Aug;70(3):562-9
Publication Type
Article
Date
Aug-2006
Author
Fava C.
von Wowern F.
Berglund G.
Carlson J.
Hedblad B.
Rosberg L.
Burri P.
Almgren P.
Melander O.
Author Affiliation
Department of Clinical Sciences, University Hospital MAS, Malmö, Sweden.
Source
Kidney Int. 2006 Aug;70(3):562-9
Date
Aug-2006
Language
English
Publication Type
Article
Keywords
Adult
Alternative Splicing
Antihypertensive Agents - therapeutic use
Blood Pressure - genetics
Blood Pressure Monitoring, Ambulatory
Chromosomes, Human, Pair 18
Circadian Rhythm
Cross-Sectional Studies
Female
Genetic Predisposition to Disease - epidemiology
Genotype
Humans
Hypertension - drug therapy - epidemiology - genetics
Insulin - blood
Linkage (Genetics)
Longitudinal Studies
Male
Middle Aged
Phenotype
Polymorphism, Single Nucleotide
Risk factors
Sweden - epidemiology
Ubiquitin-Protein Ligases - genetics
Variation (Genetics)
Abstract
Numerous linkage studies have indicated chromosome 18q21-22 as a locus of importance for blood pressure regulation. This locus harbors the neural precursor cell expressed developmentally downregulated 4-like (NEDD4L) gene, which is instrumental for the regulation of the amiloride-sensitive epithelial sodium channel (ENaC). In a linkage study of 16 markers (including two single nucleotide polymorphism markers located within the NEDD4L gene) on chromosome 18 between 70-104 cM and ambulatory blood pressure (ABP), in 118 families, the strongest evidence of linkage was found for 24 h and day-time systolic ABP at the NEDD4L locus (82.25 cM) (P=0.0014). In a large population sample (n=4001), we subsequently showed that a NEDD4L gene variant (rs4149601), which by alternative splicing leads to varying expression of a functionally crucial C2 domain, was associated with diastolic blood pressure (DBP) (P=0.03) and DBP progression over time (P=0.04). A genotype combination of the rs4149601 and an intronic NEDD4L marker (rs2288774) was associated with systolic blood pressure (SBP) (P=0.01), DBP (P=0.04), and progression of both SBP (P=0.03) and DBP (P=0.05) over time. A quantitative transmission disequilibrium test in the family material of the rs4149601 supported this NEDD4L variant as being at least partially causative of the linkage result. In conclusion, our findings suggest that the chromosome 18 linkage peak at 82.25 cM is explained by genetic NEDD4L variation affecting cross-sectional and longitudinal blood pressure, possibly as a consequence of altered NEDD4L interaction with ENaC.
PubMed ID
16788695 View in PubMed
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Accuracy of trisomy 18 screening using the second-trimester triple test.

https://arctichealth.org/en/permalink/ahliterature184867
Source
Prenat Diagn. 2003 Jun;23(6):443-6
Publication Type
Article
Date
Jun-2003
Author
Chris Meier
Tianhua Huang
Philip R Wyatt
Anne M Summers
Author Affiliation
Genetics, North York General Hospital, Toronto, Canada.
Source
Prenat Diagn. 2003 Jun;23(6):443-6
Date
Jun-2003
Language
English
Publication Type
Article
Keywords
Adult
Biological Markers - blood
Chromosome Disorders - epidemiology - genetics
Chromosomes, Human, Pair 18
Female
Genetic Testing - methods
Humans
Ontario - epidemiology
Pregnancy - blood
Pregnancy Trimester, Second
Prenatal Diagnosis - methods
Prevalence
Reproducibility of Results
Risk
Trisomy - diagnosis
Abstract
To assess the accuracy of the calculated risk for trisomy 18 assigned to individual women screened with the second-trimester triple test.
The study was based on 382598 women screened in the Ontario Maternal Serum Screening Programme between October 1993 and September 2000. Of the women screened, 111 cases of trisomy 18 were identified. Originally, 92874 women were screened using a risk cut-off level method. Estimated risks of trisomy 18 were calculated by applying published population parameters for the remaining women screened using a fixed analyte cut-off method. Women were ranked according to their individual risk for trisomy 18 syndrome in decreasing order and divided into 12 groups. The mean calculated risks of having an affected pregnancy at term for each group were compared with the birth prevalence of the corresponding group after allowing for spontaneous fetal losses.
Agreement between the mean calculated risks and the observed prevalence was seen across the entire risk range, although women identified as having high-risk pregnancies had an actual prevalence that was somewhat lower than that estimated by the screen.
The calculated risk for trisomy 18 syndrome assigned to the individual woman on the basis of the risk cut-off method accurately reflects their risk of having a term trisomy 18 syndrome pregnancy.
PubMed ID
12813756 View in PubMed
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Awareness and use of maternal serum screening among women from the St. John's region of Newfoundland and Labrador.

https://arctichealth.org/en/permalink/ahliterature161777
Source
J Obstet Gynaecol Can. 2007 Aug;29(8):630-4
Publication Type
Article
Date
Aug-2007
Author
Jonathan Cavanagh
Maria Mathews
Joan Crane
Author Affiliation
Faculty of Medicine, Memorial University of Newfoundland, St. John's NL.
Source
J Obstet Gynaecol Can. 2007 Aug;29(8):630-4
Date
Aug-2007
Language
English
Publication Type
Article
Keywords
Adult
Chromosomes, Human, Pair 18
Down Syndrome - blood - diagnosis
Female
Health Knowledge, Attitudes, Practice
Humans
Mass Screening
Neural Tube Defects - blood - diagnosis
Newfoundland and Labrador
Pregnancy
Pregnancy Trimester, Second - blood
Prenatal Diagnosis
Trisomy - diagnosis
Abstract
To examine the awareness and use of maternal serum screening (MSS) among women from the St. John's region of Newfoundland and Labrador.
We surveyed 300 women who had recently given birth. Our main outcomes were whether the woman had heard of MSS (prior to the study) and whether she had MSS during her pregnancy.
Among the 200 respondents (response rate 66.7%), 139 (69.5%) had heard of MSS and 53 (26.5%) had MSS (38.1% of those who had heard of it). A larger proportion of women over 35 years (59.0%) had heard of MSS than younger women (31.5%) (P = 0.001). Among those who had heard of MSS, a larger proportion of women who had MSS (96.2%) than those who did not have MSS (72.1%) discussed the test with their physician (P 0.001); 54.9% of the women who discussed MSS with their physicians decided not to have MSS. Most discussions regarding MSS (82.6%) lasted 10 minutes or less; discussion length was not related to use of MSS.
Almost two thirds of women surveyed were aware of MSS, and roughly one quarter had MSS. These findings confirm that most physicians offer MSS to their patients and suggest that patient preference accounts for the low use of MSS in the province. Understanding why women do not have MSS may lead to strategies to improve screening rates.
PubMed ID
17714615 View in PubMed
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Source
Int J Cancer. 1997 Jan 6;70(1):1-8
Publication Type
Article
Date
Jan-6-1997
Author
J. Avila-Cariño
N. Lewin
Y. Tomita
A. Szeles
A. Sandlund
S. Mosolits
H. Mellstedt
G. Klein
E. Klein
Author Affiliation
Microbiology and Tumor Biology Center, Karolinska Institute, Stockholm, Sweden. Javier.Avila-Carino@mtc.ki.se
Source
Int J Cancer. 1997 Jan 6;70(1):1-8
Date
Jan-6-1997
Language
English
Publication Type
Article
Keywords
Aged
Antigens, CD - metabolism
Cell Survival
Cell Transformation, Viral - physiology
Chromosomes, Human, Pair 18 - genetics
Chromosomes, Human, Pair 22 - genetics
Herpesvirus 4, Human - classification - immunology
Humans
Immunophenotyping
Leukemia, Lymphocytic, Chronic, B-Cell - genetics - immunology - pathology - virology
Male
Phenotype
T-Lymphocytes - immunology
T-Lymphocytes, Cytotoxic - immunology
Translocation, Genetic
Tumor Cells, Cultured
Tumor Markers, Biological - metabolism
Tumor Virus Infections - immunology
Viral Proteins - analysis
Abstract
In studies concerning the interaction of B-CLL cells and Epstein-Barr virus (EBV), we encountered one patient whose cells had several unusual properties. In addition to the B-cell markers, the CLL cells expressed the exclusive T-cell markers CD3 and CD8 and carried a translocation t(18,22)(q21;q11), involving the bcl-2 and Ig lambda loci. The patient represents the 4th reported CLL case with this translocation. The CLL cells could be infected and immortalized by the indigenous and by the prototype B958 virus in vitro. The T-cell markers were not detectable on the established lines. In all experiments the immortalized lines originated from the CLL cells. Their preferential emergence over virus-infected normal B cells may be coupled to the high expression of the bcl-2 gene due to the translocation. In spite of the sensitivity of CLL cells to EBV infection in vitro, no EBNA-positive cells were detected in the ex vivo population. In vitro, we could generate cytotoxic function in T-lymphocyte cultures which acted on autologous EBV-infected CLL cells. Therefore we assume that if such cells emerged in vivo they were eliminated by the T-cell response.
PubMed ID
8985083 View in PubMed
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Characteristics and associated anomalies in radial ray deficiencies in Finland--a population-based study.

https://arctichealth.org/en/permalink/ahliterature117224
Source
Am J Med Genet A. 2013 Feb;161A(2):261-7
Publication Type
Article
Date
Feb-2013
Author
Niklas Pakkasjärvi
Eeva Koskimies
Annukka Ritvanen
Yrjänä Nietosvaara
Outi Mäkitie
Author Affiliation
Children's Hospital, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland. niklas.pakkasjarvi@helsinki.fi
Source
Am J Med Genet A. 2013 Feb;161A(2):261-7
Date
Feb-2013
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - diagnosis - genetics - mortality
Anal Canal - abnormalities
Chromosomes, Human, Pair 18
Esophagus - abnormalities
Female
Finland - epidemiology
Heart Defects, Congenital - diagnosis - genetics - mortality
Humans
Infant
Kidney - abnormalities
Limb Deformities, Congenital - diagnosis - genetics - mortality
Live Birth
Male
Prevalence
Spine - abnormalities
Stillbirth - genetics
Trachea - abnormalities
Trisomy - diagnosis
Abstract
Upper-limb defects with deficiencies of the radial ray have varying etiologies, with a low proportion of true Mendelian disorders. We carried out a population-based study to elucidate the birth prevalence and clinical spectrum of radial ray deficiencies in Finland. We identified all births with radial ray deficiency reported to the Finnish Register of Congenital Malformations in 1993-2005. Altogether 138 cases were identified (123 live births), with a birth prevalence of 1.83 per 10,000 births and a live birth prevalence of 1.64 per 10,000 live births. The proportion of infant deaths was as high as 35%. The majority of the cases were associated with known syndromes or multiple anomalies; only 13% were true isolated radial ray deficiencies. The most common syndrome was trisomy 18, and the most common in multiple anomalies was VACTERL association. In 8.7% of cases an association between radial ray deficiency and heart anomaly was observed. The high proportion of cases with associated major anomalies indicates that radial ray deficiency can be regarded isolated only after thorough assessment of the various organ systems in an affected infant.
PubMed ID
23322606 View in PubMed
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Chromosomal aberrations in mildly mentally retarded children in a northern Swedish county.

https://arctichealth.org/en/permalink/ahliterature39061
Source
Ups J Med Sci Suppl. 1987;44:165-8
Publication Type
Article
Date
1987
Author
K H Gustavson
G. Holmgren
H K Blomquist
Author Affiliation
Department of Clinical Genetics, University Hospital, Uppsala, Sweden.
Source
Ups J Med Sci Suppl. 1987;44:165-8
Date
1987
Language
English
Publication Type
Article
Keywords
Chromosome Aberrations
Chromosomes, Human, Pair 18
Down Syndrome - epidemiology
Female
Fragile X Syndrome - epidemiology
Humans
Male
Mental Retardation - genetics
Research Support, Non-U.S. Gov't
Sex ratio
Sweden
Trisomy
Abstract
Few studies of the frequency of chromosomal aberrations in an unselected material of mildly mentally retarded children have been published. The present paper summarizes the chromosomal abnormalities in children with mild mental retardation (MMR) in Västerbotten in the northernmost part of Sweden. Chromosome analyses were carried out by routine methods. In addition, children whose MMR had no clear diagnosis or cause were investigated as regarding X-chromosomes with a fragile site and selected cases with banding techniques. Every mentally retarded child born between 1959 and 1970 in the county of Västerbotten was traced. Out of a total number of 40,871 individuals, 171, i.e. 4.2 per 1,000, were found to be mildly mentally retarded. Chromosomal aberrations were seen in 11.9% of the children with MMR, compared with 39.1% of the 161 children with severe mental retardation (SMR) in the same population. The proportion of cases with mental retardation of unknown etiology is high, especially amongst those with MMR. The use of high resolution banding and other modern cytogenetic methods should reduce this figure.
PubMed ID
2965442 View in PubMed
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Chromosomal breakpoint positions suggest a direct role for radiation in inducing illegitimate recombination between the ELE1 and RET genes in radiation-induced thyroid carcinomas.

https://arctichealth.org/en/permalink/ahliterature20694
Source
Oncogene. 1999 Nov 4;18(46):6330-4
Publication Type
Article
Date
Nov-4-1999
Author
Y E Nikiforov
A. Koshoffer
M. Nikiforova
J. Stringer
J A Fagin
Author Affiliation
Department of Pathology, University of Cincinnati College of Medicine, OH 45267-0529, USA.
Source
Oncogene. 1999 Nov 4;18(46):6330-4
Date
Nov-4-1999
Language
English
Publication Type
Article
Keywords
Accidents, Radiation
Adolescent
Base Sequence
Carcinoma, Papillary - diagnosis - genetics - pathology
Child
Child, Preschool
Chromosomes, Human, Pair 10 - genetics - radiation effects
Chromosomes, Human, Pair 18 - genetics - radiation effects
DNA - radiation effects
DNA Damage
DNA Repair
Diagnosis, Differential
Female
Gene Expression Regulation, Neoplastic
Humans
Introns
Male
Neoplasm Proteins - genetics
Neoplasms, Radiation-Induced - diagnosis - genetics
Oncogene Proteins - genetics
Oncogenes
Power Plants
Recombination, Genetic
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Sequence Deletion
Thyroid Neoplasms - diagnosis - genetics - pathology
Transcription Factors
Translocation, Genetic
Tumor Markers, Biological - genetics
Ukraine
Abstract
The RET/PTC3 rearrangement is formed by fusion of the ELE1 and RET genes, and is highly prevalent in radiation-induced post-Chernobyl papillary thyroid carcinomas. We characterized the breakpoints in the ELE1 and RET genes in 12 post-Chernobyl pediatric papillary carcinomas with known RET/PTC3 rearrangement. We found that the breakpoints within each intron were distributed in a relatively random fashion, except for clustering in the Alu regions of ELE1. None of the breakpoints occurred at the same base or within a similar sequence. There was also no evidence of preferential cleavage in AT-rich regions or other target DNA sites implicated in illegitimate recombination in mammalian cells. Modification of sequences at the cleavage sites was minimal, typically involving a 1-3 nucleotide deletion and/or duplication. Surprisingly, the alignment of ELE1 and RET introns in opposite orientation revealed that in each tumor the position of the break in one gene corresponded to the position of the break in the other gene. This tendency suggests that the two genes may lie next to each other but point in opposite directions in the nucleus. Such a structure would facilitate formation of RET/PTC3 rearrangements because a single radiation track could produce concerted breaks in both genes, leading to inversion due to reciprocal exchange via end-joining.
PubMed ID
10597232 View in PubMed
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Combined ultrasound and biochemistry for risk evaluation in the first trimester: the Stockholm experience of a new web-based system.

https://arctichealth.org/en/permalink/ahliterature131601
Source
Acta Obstet Gynecol Scand. 2012 Jan;91(1):34-8
Publication Type
Article
Date
Jan-2012
Author
Peter Conner
Magnus Westgren
Anna Marsk
Sven Gustafsson
Marius Kublickas
Author Affiliation
Obstetrics and Gynecology Karolinska University Hospital Ultragyn, Danderyds Hospital Clinical Chemistry, Karolinska University Hospital, Stockholm, Sweden. peter.conner@karolinska.se
Source
Acta Obstet Gynecol Scand. 2012 Jan;91(1):34-8
Date
Jan-2012
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Biological Markers - blood
Chorionic Gonadotropin, beta Subunit, Human - blood
Chromosome Disorders - blood - diagnosis - ultrasonography
Chromosomes, Human, Pair 13 - ultrasonography
Chromosomes, Human, Pair 18
Down Syndrome - blood - diagnosis - ultrasonography
Female
Humans
Incidence
Internet
Middle Aged
Nuchal Translucency Measurement
Pregnancy-Associated Plasma Protein-A - metabolism
Prospective Studies
Registries
Risk assessment
Sensitivity and specificity
Software
Sweden - epidemiology
Trisomy - diagnosis
Young Adult
Abstract
To evaluate the performance of a new first trimester web-based software for the detection of chromosomal anomalies using a combination of ultrasound and biochemistry.
Registry-based cohort study.
Ultrasound units in the Stockholm region.
20 710 women with singleton pregnancies were examined at 11(+0) to 13(+6) weeks' gestational age during a three-year period 2006-2009.
The risks for trisomy 21, 13 and 18 were calculated using a combination of maternal age, serum markers and nuchal translucency. Individual risk estimates were calculated and then reported to a web-based system using a new algorithm based on likelihood ratios of each marker derived from Gaussian distributions in normal and affected pregnancies.
The impact on rates of invasive testing and the incidence of children born with Down's syndrome after implementing the method.
Approximately a third of all pregnant women in the region were examined with the combined test. The detection and test positive rates for Down's syndrome was 90 and 6.8%, respectively. Invasive testing among pregnant women decreased from 15 to 8% after introducing the method but the incidence of children born with Down's syndrome did not decrease during the study period.
The new web-based software is an effective method for the detection of trisomy 21 with similar performance compared to other programs. However, it needs to be offered to all pregnant women to have an impact on the incidence of Down's syndrome.
PubMed ID
21895611 View in PubMed
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Common deletion of SMAD4 in juvenile polyposis is a mutational hotspot.

https://arctichealth.org/en/permalink/ahliterature190814
Source
Am J Hum Genet. 2002 May;70(5):1357-62
Publication Type
Article
Date
May-2002
Author
James R Howe
Jason Shellnut
Brian Wagner
John C Ringold
Mohamed G Sayed
Abul F Ahmed
Patrick M Lynch
Christopher I Amos
Pertti Sistonen
Lauri A Aaltonen
Author Affiliation
Department of Surgery, University of Iowa College of Medicine, Iowa City, IA 52242-1086, USA. james-howe@uiowa.edu
Source
Am J Hum Genet. 2002 May;70(5):1357-62
Date
May-2002
Language
English
Publication Type
Article
Keywords
Adenomatous Polyposis Coli - epidemiology - genetics
Adult
Age of Onset
Base Sequence
Chromosomes, Human, Pair 18 - genetics
DNA Mutational Analysis
DNA-Binding Proteins - genetics
Exons - genetics
Finland
Genes, Dominant - genetics
Germ-Line Mutation - genetics
Haplotypes - genetics
Heterozygote
Humans
Iowa
Mississippi
Models, Genetic
Molecular Sequence Data
Polymorphism, Genetic - genetics
Sequence Deletion - genetics
Smad4 Protein
Tandem Repeat Sequences - genetics
Texas
Trans-Activators - genetics
Abstract
Juvenile polyposis (JP) is an autosomal dominant syndrome in which affected patients develop upper- and/or lower-gastrointestinal (GI) polyps. A subset of families with JP have germline mutations in the SMAD4 (MADH4) gene and are at increased risk of GI cancers. To date, six families with JP have been described as having the same SMAD4 deletion (1244-1247delAGAC). The objective of the present study is to determine whether this deletion is a common ancestral mutation or a mutational hotspot. DNA from members of four families with JP, from Iowa, Mississippi, Texas, and Finland, that had this 4-bp deletion was used to genotype 15 simple tandem repeat polymorphism (STRP) markers flanking the SMAD4 gene, including 2 new STRPs within 6.3 and 70.9 kb of the deletion. Haplotypes cosegregating with JP in each family were constructed, and the distances of the closest markers were determined from the draft sequence of the human genome. No common haplotype was observed in these four families with JP. A 14-bp region containing the deletion had four direct repeats and one inverted repeat. Because no common ancestor was suggested by haplotype analysis and the sequence flanking the deletion contains repeats frequently associated with microdeletions, this common SMAD4 deletion in JP most likely represents a mutational hotspot.
Notes
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PubMed ID
11920286 View in PubMed
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Current status in non-invasive prenatal detection of Down syndrome, trisomy 18, and trisomy 13 using cell-free DNA in maternal plasma.

https://arctichealth.org/en/permalink/ahliterature115761
Source
J Obstet Gynaecol Can. 2013 Feb;35(2):177-83
Publication Type
Article
Date
Feb-2013
Author
Sylvie Langlois
Jo-Ann Brock
R Douglas Wilson
François Audibert
June Carroll
Lola Cartier
Alain Gagnon
Jo-Ann Johnson
William Macdonald
Lynn Murphy-Kaulbeck
Nanette Okun
Melanie Pastuck
Vyta Senikas
Author Affiliation
Vancouver BC.
Source
J Obstet Gynaecol Can. 2013 Feb;35(2):177-83
Date
Feb-2013
Language
English
French
Publication Type
Article
Keywords
Canada
Chromosome Disorders - genetics
Chromosomes, Human, Pair 13 - genetics
Chromosomes, Human, Pair 18 - genetics
DNA - blood
Down Syndrome - genetics
Female
Humans
Pregnancy
Prenatal Diagnosis - methods
Sequence Analysis, DNA
Trisomy - genetics
Abstract
To provide a review of published studies on the use of cell-free fetal DNA in maternal plasma for the non-invasive diagnosis of Down syndrome, trisomy 18, and trisomy 13.
PubMed was searched for articles published between 2006 and October 2012, using appropriate key words (e.g., non-invasive prenatal diagnosis, Down syndrome, cell-free fetal DNA, aneuploidy screening). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies. Searches were updated on a regular basis and incorporated in the guideline to October 31, 2012. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies.
The studies reviewed were classified according to criteria described by the Canadian Task Force on Preventive Health Care, and the recommendations for practice were ranked according to this classification (Table 1). Recommendations 1. Non-invasive prenatal testing using massive parallel sequencing of cell-free fetal DNA to test for trisomies 21, 18, and 13 should be an option available to women at increased risk in lieu of amniocentesis. Pretest counselling of these women should include a discussion of the limitations of non-invasive prenatal testing. (II-2A) 2. No irrevocable obstetrical decision should be made in pregnancies with a positive non-invasive prenatal testing result without confirmatory invasive diagnostic testing. (II-2A) 3. Although testing of cell-free fetal DNA in maternal plasma appears very promising as a screening test for Down syndrome and other trisomies, studies in average-risk pregnancies and a significant reduction in the cost of the technology are needed before this can replace the current maternal screening approach using biochemical serum markers with or without fetal nuchal translucency ultrasound. (III-A).
PubMed ID
23470070 View in PubMed
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56 records – page 1 of 6.