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First trimester combined screening biochemistry in detection of congenital heart defects.

https://arctichealth.org/en/permalink/ahliterature310746
Source
J Matern Fetal Neonatal Med. 2019 Oct; 32(19):3272-3277
Publication Type
Evaluation Study
Journal Article
Date
Oct-2019
Author
Julia Alanen
Teemu Korpimaki
Heikki Kouru
Mikko Sairanen
Markku Leskinen
Mika Gissler
Markku Ryynanen
Jaana Nevalainen
Author Affiliation
a Department of Obstetrics and Gynecology , Oulu University Hospital , Oulu , Finland.
Source
J Matern Fetal Neonatal Med. 2019 Oct; 32(19):3272-3277
Date
Oct-2019
Language
English
Publication Type
Evaluation Study
Journal Article
Keywords
Adult
Biomarkers - analysis - blood
Case-Control Studies
Chorionic Gonadotropin, beta Subunit, Human - blood
Female
Finland
Heart Defects, Congenital - blood - diagnosis
Humans
Maternal Serum Screening Tests - methods
Predictive value of tests
Pregnancy
Pregnancy Trimester, First - blood
Pregnancy-Associated Plasma Protein-A - analysis - metabolism
Prenatal Diagnosis - methods
Young Adult
Abstract
Objective: To evaluate the performance of first trimester biochemical markers, pregnancy-associated plasma protein-A (PAPP-A), free beta human chorionic gonadotropin (fß-hCG), and nuchal translucency (NT) in detection of severe congenital heart defects (CHDs). Methods: During the study period from 1 January 2008 to 31 December 2011, biochemical markers and NT were measured in 31,144 women as part of voluntary first trimester screening program for Down's syndrome in Northern Finland. Data for 71 severe CHD cases and 762 controls were obtained from the hospital records and from the National Medical Birth Register, which records the birth of all liveborn and stillborn infants, and from the National Register of Congenital Malformations that receives information about all the CHD cases diagnosed in Finland. Results: Both PAPP-A and fß-hCG multiple of median (MoM) values were decreased in all severe CHDs: 0.71 and 0.69 in ventricular septal defects (VSDs), 0.58 and 0.88 in tetralogy of Fallot cases (TOFs), 0.82 and 0.89 in hypoplastic left heart syndromes (HLHSs), and 0.88 and 0.96 in multiple defects, respectively. NT was increased in all study groups except of VSD group. ROC AUC was 0.72 for VSD when combining prior risk with PAPP-A and fß-hCG. Adding NT did not improve the detection rate. With normal NT but decreased (
PubMed ID
29683008 View in PubMed
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Management of suspected primary Toxoplasma gondii infection in pregnant women in Norway: twenty years of experience of amniocentesis in a low-prevalence population.

https://arctichealth.org/en/permalink/ahliterature290084
Source
BMC Pregnancy Childbirth. 2017 04 26; 17(1):127
Publication Type
Journal Article
Date
04-26-2017
Author
Gry Findal
Anne Helbig
Guttorm Haugen
Pål A Jenum
Babill Stray-Pedersen
Author Affiliation
University of Oslo, Institute of Clinical Medicine, Oslo, Norway. gryfi@medisin.uio.no.
Source
BMC Pregnancy Childbirth. 2017 04 26; 17(1):127
Date
04-26-2017
Language
English
Publication Type
Journal Article
Keywords
Abortion, Spontaneous - etiology
Adult
Amniocentesis - adverse effects
Female
Humans
Maternal Serum Screening Tests - methods
Norway
Pregnancy
Pregnancy Complications, Parasitic - diagnosis
Prenatal Diagnosis - adverse effects - methods
Retrospective Studies
Toxoplasmosis - diagnosis
Unnecessary Procedures - adverse effects - methods
Abstract
Primary infection with Toxoplasma gondii during pregnancy may pose a threat to the fetus. Women infected prior to conception are unlikely to transmit the parasite to the fetus. If maternal serology indicates a possible primary infection, amniocentesis for toxoplasma PCR analysis is performed and antiparasitic treatment given. However, discriminating between primary and latent infection is challenging and unnecessary amniocenteses may occur. Procedure-related fetal loss after amniocentesis is of concern. The aim of the present study was to determine whether amniocentesis is performed on the correct patients and whether the procedure is safe for this indication.
Retrospective study analysing data from all singleton pregnancies (n?=?346) at Oslo University Hospital undergoing amniocentesis due to suspected maternal primary toxoplasma infection during 1993-2013. Maternal, neonatal and infant data were obtained from clinical hospital records, laboratory records and pregnancy charts. All serum samples were analysed at the Norwegian Institute of Public Health or at the Toxoplasma Reference Laboratory at Oslo University Hospital. The amniocenteses were performed at Oslo University Hospital by experienced personnel. Time of maternal infection was evaluated retrospectively based on serology results.
50% (173) of the women were infected before pregnancy, 23% (80) possibly in pregnancy and 27% (93) were certainly infected during pregnancy. Forty-nine (14%) women seroconverted, 42 (12%) had IgG antibody increase and 255 (74%) women had IgM positivity and low IgG avidity/high dye test titre. Fifteen offspring were infected with toxoplasma, one of them with negative PCR in the amniotic fluid. Median gestational age at amniocentesis was 16.7 gestational weeks (GWs) (Q1?=?15, Q3?=?22), with median sample volume 4 ml (Q1?=?3, Q3?=?7). Two miscarriages occurred 4 weeks after the procedure, both performed in GW 13. One of these had severe fetal toxoplasma infection.
Half of our study population were infected before pregnancy. In order to reduce the unnecessary amniocenteses we advise confirmatory serology 3 weeks after a suspect result and suggest that the serology is interpreted by dedicated multidisciplinary staff. Amniocentesis is safe and useful as a diagnostic procedure in diagnosing congenital toxoplasma infection when performed after 15 GW.
Notes
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PubMed ID
28441952 View in PubMed
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[Non-invasive prenatal testing is a breakthrough in prenatal screening].

https://arctichealth.org/en/permalink/ahliterature283113
Source
Ugeskr Laeger. 2015 Jul 06;177(28)
Publication Type
Article
Date
Jul-06-2015
Author
Louise Stig Hornstrup
Louise Ambye
Steen Sørensen
Finn Stener Jørgensen
Source
Ugeskr Laeger. 2015 Jul 06;177(28)
Date
Jul-06-2015
Language
Danish
Publication Type
Article
Keywords
Cell-Free System
DNA - blood
Denmark
Down Syndrome - diagnosis - genetics
Female
Genetic Testing - methods
Humans
Maternal Serum Screening Tests - methods
Pregnancy
Pregnancy Trimester, First
Prenatal Diagnosis - methods
Sequence Analysis, DNA
Abstract
Non-invasive prenatal testing (NIPT) using cell-free fetal DNA from the peripheral blood of the pregnant woman has become a possibility within recent years, but is not yet implemented in Denmark. NIPT has proven to be very efficient in the screening for especially trisomi 21. This article summarizes the basics behinds the most used NIPT techniques and describes which genetic conditions this method may detect. Finally, the future aspects of implementing NIPT in the prenatal screening programme in Denmark are discussed.
PubMed ID
26239855 View in PubMed
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Open source non-invasive prenatal testing platform and its performance in a public health laboratory.

https://arctichealth.org/en/permalink/ahliterature280854
Source
Prenat Diagn. 2016 Jun;36(6):530-6
Publication Type
Article
Date
Jun-2016
Author
Peter Johansen
Stine R Richter
Marie Balslev-Harder
Caroline B Miltoft
Ann Tabor
Morten Duno
Susanne Kjaergaard
Source
Prenat Diagn. 2016 Jun;36(6):530-6
Date
Jun-2016
Language
English
Publication Type
Article
Keywords
Adult
Chromosome Disorders - diagnosis
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 18
DNA - blood - genetics
Denmark
Down Syndrome - diagnosis
Female
High-Throughput Nucleotide Sequencing - instrumentation - methods
Humans
Male
Maternal Serum Screening Tests - methods
Pregnancy
Prenatal Diagnosis
Public Health
Semiconductors
Sequence Analysis, DNA - instrumentation - methods
Sex Determination Analysis
Trisomy - diagnosis
Abstract
The objective of this study was to introduce non-invasive prenatal testing (NIPT) for fetal autosomal trisomies and gender in a Danish public health setting, using semi-conductor sequencing and published open source scripts for analysis.
Plasma-derived DNA from a total of 375 pregnant women (divided into three datasets) was whole-genome sequenced on the Ion Proton? platform and analyzed using a pipeline based on WISECONDOR for fetal autosomal aneuploidy detection and SeqFF for fetal DNA fraction estimation. We furthermore validated a fetal sex determination analysis.
The pipeline correctly detected 27/27 trisomy 21, 4/4 trisomy 18, and 3/3 trisomy 13 fetuses. Neither false negatives nor false positives (chromosomes 13, 18, and 21) were observed in our validation dataset. Fetal sex was identified correctly in all but one triploid fetus (172/173). SeqFF showed a strong correlation (R(2) ?=?0.72) to Y-chromosomal content of the male fetus samples.
We have implemented NIPT into Danish health care using published open source scripts for autosomal aneuploidy detection and fetal DNA fraction estimation showing excellent false negative and false positive rates. SeqFF provides a good estimation of fetal DNA fraction. This coupled with an analysis of fetal sex that provides a complete NIPT workflow, which may easily be adapted for implementation in other public health laboratories. ? 2016 John Wiley & Sons, Ltd.
PubMed ID
27027563 View in PubMed
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Reference Ranges and Determinants of Thyroid Function During Early Pregnancy: The SELMA Study.

https://arctichealth.org/en/permalink/ahliterature300062
Source
J Clin Endocrinol Metab. 2018 09 01; 103(9):3548-3556
Publication Type
Journal Article
Research Support, Non-U.S. Gov't
Date
09-01-2018
Author
Arash Derakhshan
Huan Shu
Maarten A C Broeren
Ralph A de Poortere
Sverre Wikström
Robin P Peeters
Barbara Demeneix
Carl-Gustaf Bornehag
Tim I M Korevaar
Author Affiliation
Academic Center for Thyroid Diseases, Erasmus MC, GE Rotterdam, Netherlands.
Source
J Clin Endocrinol Metab. 2018 09 01; 103(9):3548-3556
Date
09-01-2018
Language
English
Publication Type
Journal Article
Research Support, Non-U.S. Gov't
Keywords
Adult
Antibodies - blood
Autoantigens - immunology
Body mass index
Female
Gestational Age
Humans
Iodide Peroxidase - immunology
Iron-Binding Proteins - immunology
Longitudinal Studies
Maternal Serum Screening Tests - methods - statistics & numerical data
Pregnancy
Pregnancy Trimester, First - blood
Prospective Studies
Reference Values
Sweden
Thyroid Function Tests - statistics & numerical data
Thyroid Hormones - blood - immunology
Thyrotropin - blood
Thyroxine - blood
Triiodothyronine - blood
Abstract
Establishing reference ranges as well as identifying and quantifying the determinants of thyroid function during pregnancy is important for proper clinical interpretation and optimizing research efforts. However, such data are sparse, specifically for triiodothyronine measurements, and most studies do not take into account thyroid antibodies or human chorionic gonadotropin.
To determine reference ranges and to identify/quantify determinants of TSH, free T4 (FT4), free triiodothyronine (FT3), total T4 (TT4), and total triiodothyronine (TT3).
This study included 2314 participants of the Swedish Environmental Longitudinal, Mother and child, Asthma and allergy study, a population-based prospective pregnancy cohort of mother-child pairs. Reference ranges were calculated by 2.5th to 97.5th percentiles after excluding thyroperoxidase antibody (TPOAb)-positive and/or thyroglobulin antibody (TgAb)-positive women.
None.
TSH, FT4, FT3, TT4, and TT3 in prenatal serum.
After exclusion of TPOAb-positive women, reference ranges were as follows: TSH, 0.11 to 3.48 mU/L; FT4, 11.6 to 19.4 pmol/L; FT3, 3.72 to 5.92 pg/mL; TT4, 82.4 to 166.2 pmol/L; and TT3, 1.28 to 2.92 nmol/L. Additional exclusion of TgAb-positive women did not change the reference ranges substantially. Exposure to tobacco smoke, as assessed by questionnaires and serum cotinine, was associated with lower TSH and higher FT3 and TT3. Body mass index (BMI) and gestational age were the main determinants of TSH (only for BMI), FT4, FT3, TT4, and TT3.
We show that the exclusion of TgAb-positive women on top of excluding TPOAb-positive women hardly affects clinical reference ranges. We identified various relevant clinical determinants of TSH, FT4, FT3, TT4, and TT3 that could reflect endocrine-disrupting effects and/or effects on thyroid hormone transport or deiodination.
PubMed ID
29982605 View in PubMed
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