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Showing papers on "Amniocentesis published in 2014"


Journal ArticleDOI
TL;DR: The fetal CAH status was correctly deduced by targeted MPS of DNA in maternal plasma, as early as 5 weeks 6 days of gestation, representing a generic approach for noninvasive prenatal testing for an array of autosomal recessive disorders.
Abstract: Context: Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition that arises from mutations in CYP21A2 gene, which encodes for the steroidogenic enzyme 21-hydroxylase. To prevent genital ambiguity in affected female fetuses, prenatal treatment with dexamethasone must begin on or before gestational week 9. Currently used chorionic villus sampling and amniocentesis provide genetic results at approximately 14 weeks of gestation at the earliest. This means that mothers who want to undergo prenatal dexamethasone treatment will be unnecessarily treating seven of eight fetuses (males and three of four unaffected females), emphasizing the desirability of earlier genetic diagnosis in utero. Objective: The objective of the study was to develop a noninvasive method for early prenatal diagnosis of fetuses at risk for CAH. Patients: Fourteen families, each with a proband affected by phenotypically classical CAH, were recruited. Design: Cell-free fetal DNA was obtained from 3.6 mL of maternal plasma. U...

252 citations


Journal ArticleDOI
TL;DR: The mechanisms underlying feto-placental chromosomal mosaicism are presented and the implications for microarray analysis of CVS and non-invasive prenatal screening (NIPS) are presented.
Abstract: Chromosomal mosaicism is one of the primary interpretative issues in prenatal diagnosis. In this review, the mechanisms underlying feto-placental chromosomal mosaicism are presented. Based on the substantial retrospective diagnostic experience with chorionic villi samples (CVS) of a prenatal diagnosis laboratory the following items are discussed: (i) The frequency of the different types of mosaicism (confined placental, CPM, and true fetal mosaicisms, TFM); (ii) The risk of fetal confirmation after the detection of a mosaic in CVS stratified by chromosome abnormality and placental tissue involvement; (iii) The frequency of uniparental disomy for imprinted chromosomes associated with CPM; (iv) The incidence of false-positive and false-negative results in CVS samples analyzed by only (semi-)direct preparation or long term culture; and (v) The implications of the presence of a feto-placental mosaicism for microarray analysis of CVS and non-invasive prenatal screening (NIPS).

93 citations


Journal ArticleDOI
TL;DR: Amniocentesis performed on HBsAg+ mothers with HBV DNA ⩾ 7 log10 copies/ml significantly increased the frequency of VT, according to baseline value risk analyses.

90 citations


Journal ArticleDOI
TL;DR: In this paper, NIPT uptake and subsequent changes in the utilization of first-trimester screen (FTS), chorionic villus sampling (CVS), and amniocentesis in a single referral center is reported.

81 citations


Journal ArticleDOI
TL;DR: A number of considerations are raised regarding the management of Ebola virus-infected pregnant women, including the place of amniocentesis and induced delivery, and whether certain invasive medical acts are justified.
Abstract: We report two cases of confirmed Ebola virus disease in pregnant women, who presented at the Medecins Sans Frontieres Ebola treatment centre in Gueckedou. Despite the very high risk of death, both pregnant women survived. In both cases the critical decision was made to induce vaginal delivery. We raise a number of considerations regarding the management of Ebola virus-infected pregnant women, including the place of amniocentesis and induced delivery, and whether certain invasive medical acts are justified. We report two cases of confirmed Ebola virus disease (EVD) in pregnant patients who presented and were treated at the Medecins Sans Frontieres (MSF) Ebola treatment centre in Gueckedou. We also raise a number of considerations regarding the role of amniocentesis and induced delivery in the management of pregnant women with EVD.

76 citations


Journal ArticleDOI
TL;DR: Global metabolic profiling of AF revealed alteration in hepatic metabolites involving xenobiotic detoxification and CoA metabolism in PTB, which may be developmentally related and its contribution PTB as a cause or effect of PTB is still unclear.
Abstract: Objective:To identify metabolic changes associated with early spontaneous preterm birth (PTB; <34 weeks) and term births, using high-throughput metabolomics of amniotic fluid (AF) in African American population.Method:In this study, AF samples retrieved from spontaneous PTB (<34 weeks [n = 25]) and normal term birth (n = 25) by transvaginal amniocentesis at the time of labor prior to delivery were subjected to metabolomics analysis. Equal volumes of samples were subjected to a standard solvent extraction method and analyzed using gas chromatography/mass spectrometry (MS) and liquid chromatography/MS/MS. Biochemicals were identified through matching of ion features to a library of biochemical standards. After log transformation and imputation of minimum observed values for each compound, t test, correlation tests, and false discovery rate corrections were used to identify differentially regulated metabolites. Data were controlled for clinical/demographic variables and medication during pregnancy.Results:Of...

70 citations


Journal ArticleDOI
TL;DR: This review will provide health care practitioners with a better understanding of the available prenatal screening methods for OCNTd and the benefits and risks associated with each technique to allow evidenced-based decisions on OCNTD screening, diagnosis, and obstetrical management.
Abstract: Objective To provide obstetrical and genetic health care practitioners with guidelines and recommendations for prenatal screening, diagnosis, and obstetrical management of fetal open and closed neural tube defects (OCNTD). Options This review includes prenatal screening and diagnostic techniques currently being used for the detection of OCNTD including maternal serum alpha fetoprotein screening, ultrasound, fetal magnetic resonance imaging, and amniocentesis. Outcomes To improve prenatal screening, diagnosis, and obstetrical management of OCNTD while taking into consideration patient care, efficacy, cost, and care procedures. Evidence Published literature was retrieved through searches of PubMed or MEDLINE, CINAHL, and The Cochrane Library in November, 2013, using appropriate controlled vocabulary and key words (e.g., prenatal screening, congenital anomalies, neural tube defects, alpha fetoprotein, ultrasound scan, magnetic resonance imaging). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies published in English from 1977 to 2012. Searches were updated on a regular basis and incorporated in the guideline to November 30, 2013. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. An online survey of health care practitioners was also reviewed. Values The quality of evidence in this document was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table). Benefits, harms, and costs This review will provide health care practitioners with a better understanding of the available prenatal screening methods for OCNTD and the benefits and risks associated with each technique to allow evidenced-based decisions on OCNTD screening, diagnosis, and obstetrical management.

70 citations


Journal ArticleDOI
18 Feb 2014-PLOS ONE
TL;DR: Maternal obesity affects fetal neurodevelopmental and metabolic gene expression as early as the second trimester, suggesting a pro-estrogenic, pro-inflammatory milieu.
Abstract: Objective One in three pregnant women in the United States is obese. Their offspring are at increased risk for neurodevelopmental and metabolic morbidity. Underlying molecular mechanisms are poorly understood. We performed a global gene expression analysis of mid-trimester amniotic fluid cell-free fetal RNA in obese versus lean pregnant women.

54 citations


Journal Article
TL;DR: In this large clinical series, NIPT using the Harmony test proves to be a very reliable prenatal test to detect fetal trisomies 21, 18 and 13 in maternal blood in Belgium and the Netherlands.
Abstract: As the classical first trimester Down syndrome screening (FTS, combination test) has a false-negative rate of 20-25% and > 95% of the abnormal FTS results are false-positive, we evaluated the new Non-Invasive Prenatal Test (NIPT) in Belgium and the Netherlands. The study population consisted of 3000 consecutive pregnancies in Belgium and the Netherlands in which NIPT was performed using the Harmony test. In 57 (1.9%) of the 3000 pregnancies an abnormal NIPT result was found. This included 51 fetuses with trisomy 21, 4 fetuses with trisomy 18 and 2 fetuses with trisomy 13. In 47 of the 57 the NIPT result was confirmed by genetic testing of material obtained by amniocentesis or chorionic biopsy, and no false-positive results were recorded. The false-negative rate as determined on more than 2000 women that had delivered at the time of reporting was low, and so far only 2 false-negative results were reported (one trisomy 18 and one trisomy 21). The failure rate where no NIPT result could be obtained after repeated sampling was 0.90%. In this large clinical series, NIPT using the Harmony test proves to be a very reliable prenatal test to detect fetal trisomies 21, 18 and 13 in maternal blood in Belgium and the Netherlands.

49 citations


Journal ArticleDOI
Ilana Löwy1
TL;DR: The transformation of prenatal diagnosis into a routine medical technology was, to a great extent, an invisible revolution.

47 citations


Journal ArticleDOI
10 Jul 2014-Gene
TL;DR: The aim of this study was to demonstrate the feasibility of a new haplotype-based approach for the noninvasive prenatal testing of CAH due to 21-hydroxylase deficiency, and to predict an unaffected carrier ofCAH.

Journal ArticleDOI
TL;DR: Findings indicate that maternal F is inactivated to E in the human fetoplacental unit during acute stress, and increased 11β-HSD2 activity within the maternal salivary glands following acute stress may mirror further stress protective mechanisms worthwhile investigating.
Abstract: The underlying biological mechanism of prenatal stress in humans is poorly understood, but maternal cortisol (F) excess seems to play an important role. In pregnant rats, acute stress causes an up-regulation of placental 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2), an enzyme present throughout the body (e.g., placenta, salivary glands) that inactivates F to cortisone (E), thereby protecting the fetus from maternal F overexposure. Whether acute stress influences human 11β-HSD2 is unclear. We aimed to explore the association between the maternal stress reactivity and amniotic fluid F, E, and the E/(E + F) ratio as a marker of fetoplacental 11β-HSD2. The predictive value of all markers for birth outcome was investigated. We examined 34 healthy pregnant women undergoing amniocentesis, which served as a standardized, real-life stressor. F, E, and E/(E + F) were determined from a single aliquot of amniotic fluid, and from saliva samples collected repeatedly. Subjects filled out state questionnaires repeatedly and were re-examined in a control condition after notification of a normal amniocentesis result. During amniocentesis, psychological stress, salivary F (SalF), and salivary E (SalE) increased significantly, whereas SalE/(E + F) decreased. The SalF reactivity was positively associated with amniotic E, while SalE/(E + F) was inversely associated with amniotic E/(E + F). SalF and SalE predicted lower and SalE/(E + F) higher birth weight. Psychological and amniotic fluid variables were unrelated to birth outcome. Findings indicate that maternal F is inactivated to E in the human fetoplacental unit during acute stress. Increased 11β-HSD2 activity within the maternal salivary glands following acute stress may mirror further stress protective mechanisms worthwhile investigating. © 2013 Wiley Periodicals, Inc. Dev Psychobiol.

Journal ArticleDOI
TL;DR: The index of suspicion for an infection-related process in postpartum women and their neonates should be increased in the presence of MSAF, which was associated with an increased incidence of MIAC.
Abstract: Background: Meconium-stained amniotic fluid (MSAF) is a common occurrence among women in spontaneous labor at term, and has been associated with adverse outcomes in both mother and neonate. MSAF is a risk factor for microbial invasion of the amniotic cavity (MIAC) and preterm birth among women with preterm labor and intact membranes. We now report the frequency of MIAC and the presence of bacterial endotoxin in the amniotic fluid of patients with MSAF at term.Materials and methods: We conducted a cross-sectional study including women in presumed preterm labor because of uncertain dates who underwent amniocentesis, and were later determined to be at term (n = 108). Patients were allocated into two groups: (1) MSAF (n = 66) and (2) clear amniotic fluid (n = 42). The presence of bacteria was determined by microbiologic techniques, and endotoxin was detected using the Limulus amebocyte lysate (LAL) gel clot assay. Statistical analyses were performed to test for normality and bivariate comparisons.Resu...

Journal ArticleDOI
TL;DR: The aim of this study was to compare rates of genetic counseling, invasive prenatal diagnosis, and trisomy 21 detection among women at increased risk for aneuploidy, before versus after the availability of noninvasive prenatal testing (NIPT).
Abstract: Purpose The aim of this study was to compare rates of genetic counseling, invasive prenatal diagnosis, and trisomy 21 detection among women at increased risk for aneuploidy, before versus after the availability of noninvasive prenatal testing (NIPT). Methods This institutional review board–exempt retrospective study included all women who had an ultrasound (US) examination between 10 0/7 and 21 6/7 weeks' gestation and were eligible for NIPT (ie, age ≥35 years, US findings suggestive of increased aneuploidy risk, positive aneuploidy screen, prior trisomic fetus, parental balanced translocation with increased risk for trisomy 13 or 21) between June 1, 2012 and February 1, 2013. NIPT was performed by a single laboratory after patients received genetic counseling. We also identified a comparison group of women evaluated between December 1, 2010 and November 30, 2011, who would have been eligible for NIPT had it been available. The two groups were compared for maternal demographics, aneuploidy risk factors, rates of genetic counseling, invasive diagnostic procedures, and trisomy 21 detection. Results The before-NIPT and after-NIPT groups contained 1,464 and 1,046 subjects, respectively. All 33 fetuses with trisomy 21 in the two groups were identified by positive aneuploidy screening. After the introduction of NIPT, genetic counseling for aneuploidy risk increased (adjusted odds ratio [aOR], 1.77 [1.49–2.11]; p < 0.0001) and the overall invasive diagnosis (aOR, 0.42 [0.32–0.55]; p < 0.0001), including amniocentesis (aOR, 0.37 [0.27–0.52], p < 0.0001), decreased, whereas the prenatal diagnosis of trisomy 21 remained similar (88% versus 100%; p = 0.86). Conclusions NIPT in clinical practice uses more genetic counseling resources but requires significantly fewer invasive procedures to maintain the detection rates of trisomy 21. © 2014 Wiley Periodicals, Inc. J Clin Ultrasound 43:1–6, 2015

Journal ArticleDOI
TL;DR: An increase in uptake of noninvasive prenatal testing and a significant decline in amniocentesis procedures were observed and the rates of “unclassified,” false-positive, and false-negative results were higher than anticipated based on published preclinical trials.

Journal ArticleDOI
TL;DR: A patient with abnormal non‐invasive prenatal test (NIPT) results, indicating a 99% risk for monosomy X, was referred to the authors' center for genetic counseling and confirmatory studies, and this case confirms that NIPT results are comparable with those of short‐term cultured CV investigating the cytotrophoblast.
Abstract: We present a unique case in which non-invasive and invasive prenatal diagnoses showed abnormal, but discordant, results A patient with abnormal non-invasive prenatal test (NIPT) results, indicating a 99% risk for monosomy X, was referred to our center for genetic counseling and confirmatory studies Cytogenetic analysis of uncultured mesenchymal core of chorionic villi (CV) revealed a mosaic male karyotype consisting of two abnormal cell lines: one with monosomy X and the other with an isodicentric chromosome Y Array analysis of the trophoblast confirmed the NIPT results Based on the CV results, the patient opted for termination of pregnancy After extensive counseling by a clinical geneticist about the possible outcomes and by a gynecologist about the risk of a second-trimester abortion procedure, the patient agreed to undergo early amniocentesis Amniocentesis confirmed that the fetus had a male karyotype with an isodicentric chromosome Y, and the single nucleotide polymorphism (SNP) array profile suggested absence of the monosomy X cell line The male infant was expected to be infertile The patient finally decided to continue the pregnancy Our case confirms that NIPT results are comparable with those of short-term cultured CV investigating the cytotrophoblast Our patient was not aware that the NIPT results reveal the placental karyotype, which sometimes may be different from the fetal karyotype Pretest counseling and providing the risk figures for false-positive and false-negative NIPT results are of great importance in order to discourage women from terminating pregnancies based on NIPT results alone Copyright © 2014 ISUOG Published by John Wiley & Sons Ltd

Journal ArticleDOI
TL;DR: The objective was to evaluate the combination of sonography, magnetic resonance imaging, and amniotic fluid biochemical markers in prenatal diagnosis of esophageal atresia.
Abstract: Objective Prenatal diagnosis of esophageal atresia (EA) remains a challenge. Our objective was to evaluate the combination of sonography, magnetic resonance imaging (MRI), and amniotic fluid biochemical markers in prenatal diagnosis of EA. Study design A retrospective study of all cases with prenatal suspicion of EA from January 2008 to May 2013 in our regional reference center was carried out. Patients were included if all the three tests were performed. For each test, sensitivity (Se), specificity (Sp), positive predictive value (PPV), and negative predictive value (NPV) were evaluated. Each test was compared using Fisher's exact test. Results Fifteen patients were referred at a median gestational age of 28+5 weeks (24–36) for suspicion of EA on the basis of small or non-visualized fetal stomach bubble and/or polyhydramnios. Se, Sp, PPV, and NPV for sonographic pouch sign/MRI/biochemical amniotic fluid were respectively 40/100/100/45.5%, 80/100/100/71.4%, and 90/60/81.8/75%. MRI was the best predictive test (p = 0.007). Conclusion In case of ultrasound prenatal suspicion of EA (with or without visualization of the pouch sign), an MRI at 30–32 weeks using fast imaging employing steady-state acquisition should be proposed. Biochemical amniotic fluid may be helpful and should be evaluated in a larger study. © 2014 John Wiley & Sons, Ltd.

Journal ArticleDOI
TL;DR: A 35-year-old primigravida, pregnant after in-vitro fertilization, was seen because of a trisomy 13/trisomy 18 (T13/T18) risk of 1:55, based on the result of her first-trimester combined test as discussed by the authors.
Abstract: A 35-year-old primigravida, pregnant after in-vitro fertilization, was seen because of a trisomy 13/trisomy 18 (T13/T18) risk of 1:55, based on the result of her first-trimester combined test. She elected for non-invasive prenatal testing (NIPT) at 14 + 5 weeks' gestation, which was positive for T13. After counseling, the patient elected to undergo amniocentesis. Quantitative fluorescence polymerase chain reaction (QF-PCR) showed no signs of trisomy, and full karyotyping confirmed a normal 46,XY result. Analysis of the published literature on NIPT for T13 gives an overall detection rate of 91.6%, with a false-positive rate of 0.097%. Based on this detection rate, hypothetical calculations show that the positive predictive value is highly dependent on the prevalence of the disease, resulting in an unfavorable balance between benefit and harm in a general population.

Journal ArticleDOI
TL;DR: The new technology that will allow genetic testing of a fetus within the first trimester of pregnancy by isolating cell‐free fetal DNA in the mother's blood raises a range of ethical and legal issues.

Journal ArticleDOI
TL;DR: The aim of this study was to document the clinical and cytogenetic results of a large series of amniocentesis cases from Turkey.
Abstract: Aim The aim of this study was to document the clinical and cytogenetic results of a large series of amniocentesis (AS) cases from Turkey. Material and Methods Second-trimester amniocentesis cases performed in Suleymaniye Maternity Hospital for Research and Training between January 2007 and December 2011 were included. Results During this period, 6124 AS were performed. Indications were increased risk in maternal serum screening (MSS) (56%), advanced maternal age (29%) and pathologic ultrasound finding (11.5%). Most frequent MSS abnormality was abnormal triple test result (58%). Overall culture success rate was 98.8%. Chromosomal abnormality was detected in 215 (3.6%) of the 6052 cytogenetic results (74.9% numerical, 25.1% structural). Most frequent numerical chromosomal abnormality was trisomy 21 (61.9%). Clinically insignificant polymorphisms were the most frequent structural changes (n = 571). Most frequent polymorphism was increase in heterochromatin region in the 1st chromosome (n = 158). Advanced maternal age had a positive predictive value of 5.2%. Among the MSS tests, the combined test had the highest positive predictive value (5.2%). Conclusions In our study, abnormal MSS (and among these, abnormal triple test result) was the most frequent indication for amniocentesis. Our overall culture success rate was 98.8%. Frequency of major chromosomal abnormality was 3.2% and trisomy 21 was the most frequent abnormality.

Journal ArticleDOI
TL;DR: The clinical and laboratory monitoring of a case with primary CMV infection occurring before the first trimester of gestation revealed a severeCMV infection in a fetus small for gestational age with ventriculomegaly, confirmed by the autopsy performed on the fetus.
Abstract: Congenital cytomegalovirus (CMV) infection is the leading non-genetic cause of sensori-neural hearing loss and neurodevelopmental sequelae. Despite these alarming facts, the general public healthcare system is often not aware of CMV and not enough is done to prevent congenital CMV infection.We describe the clinical and laboratory monitoring of a case with primary CMV infection occurring before the first trimester of gestation. Specific literature review is included in order to point out major goals achieved in the diagnosis and prognosis of congenital CMV infection and the many questions still unanswered. Serological diagnosis of primary CMV infection was performed based on serum-CMV specific-IgM antibodies, combined with low avidity anti-CMV IgG antibodies. The maternal infection was asymptomatic, as it is for most infections in immunocompetent patients. Therefore, disclosing primary infection depended on specific serological tests during the initial period of pregnancy (before weeks 12-16 of gestation). The invasive (amniocentesis) and non-invasive (ultrasonographic examination) prenatal tests, carried out at 21 weeks gestation, revealed a severe CMV infection in a fetus small for gestational age with ventriculomegaly. The presence of overt ultrasound abnormalities combined with high viral load in the amniotic fluid sampled at the appropriate times was highly suggestive of an unfavourable prognosis. The autopsy performed on the fetus confirmed severe disseminated CMV infection with histological brain damage.

Journal ArticleDOI
TL;DR: A confined placental mosaicism (CPM) with non-mosaic T18 fetus and multiclonal placenta with high prevalence of 45, X and low level of T18 cells is found in this rare case of double aneuploidy.
Abstract: At 17+4 week, non-invasive prenatal testing (NIPT) results of a 24-years-old mother showed high risk of monosomy X (45, X). Abnormally shaped head and cardiac defects were observed in prenatal ultrasound scan at 19+3 week. Amniocentesis conducted at 19+3 week identified karyotype 47, XX, +18, which suggested that the NIPT failed to detect trisomy 18 (T18) in this case. With a further massively parallel sequencing (MPS) of maternal blood, fetal and placental tissues, we found a confined placental mosaicism (CPM) with non-mosaic T18 fetus and multiclonal placenta with high prevalence of 45, X and low level of T18 cells. FISH and SNP-array evidence from the placental tissue confirmed genetic discrepancy between the fetus and placenta. Because the primary source of the fetal cell-free DNA that NIPT assesses is mostly originated from trophoblast cells, the level of T18 placental mosaicism may cause false negative NIPT result in this rare case of double aneuploidy.

Journal ArticleDOI
TL;DR: Intraamniotic inflammation was more frequent and intense in patients with inflammation restricted to chorio-decidua than in those without placental inflammation, however, fetal and maternal inflammatory responses were similar between these two groups.
Abstract: Objective: No data exist on the frequency and intensity of the fetal, intraamniotic and maternal inflammation in preterm-gestations with inflammation restricted to chorio-decidua, early stage of ascending intrauterine infection. The objective of the study is to examine this issue.Study Design: The frequency and intensity of fetal (cord blood C-reactive protein [CRP] at birth >200 ng/ml), intraamniotic (amniotic fluid matrix metalloproteinase-8 [MMP-8] >23 ng/ml) and maternal (maternal serum CRP >0.7 ng/ml) inflammation were compared in 304 singleton preterm-gestations (<35.4 weeks) delivered within 5 days of amniocentesis. Placental pathology was divided into placenta without any inflammation, inflammation restricted to chorio-decidua and inflammation beyond chorio-decidua.Results: Intraamniotic inflammation, but not fetal or maternal inflammation, was significantly more frequent (43.2% versus 10.5%; p < 0.005) and intense (median amniotic fluid MMP-8; 7.5 ng/ml versus 1.3 ng/ml; p < 0.001) in inf...

Journal ArticleDOI
TL;DR: A high microbial load of genital mycoplasma Ureaplasma species DNA in the umbilical cord in pregnancies complicated by pPROM is not associated with a high fetal inflammatory response and is therefore not associatedWith serious neonatal morbidity.
Abstract: Objective: To evaluate Ureaplasma species and M. hominis DNA in the umbilical cord blood and its correlation with its microbial load in the amniotic fluid, as a measure of microbial burden in fetal inflammatory response and neonatal outcome in pregnancies complicated by preterm prelabor rupture of membranes (pPROM).Study design: A retrospective study of 158 women with singleton pregnancies complicated by pPROM between 240/7 and 366/7 weeks was conducted. Amniotic fluid was obtained from all women by transabdominal amniocentesis, and umbilical cord blood was obtained by venipuncture from umbilical cords immediately after the delivery of the neonates. The Ureaplasma species and M. hominis DNA was quantitated using absolute quantification techniques.Result: Ureaplasma species and M. hominis DNA was identified in 9% of the umbilical cord blood samples. No correlation between the amniotic fluid and umbilical cord blood microbial load was observed. The presence of Ureaplasma species and M. hominis DNA i...

Journal ArticleDOI
TL;DR: Results from NIPT must always be confirmed by invasive prenatal diagnosis, and it is mandatory to inform the patient that the CVS and amniocentesis still represent the only form of prenatal diagnostic test available.
Abstract: Recent studies have proposed the introduction of cell-free fetal DNA testing (NIPT - Non Invasive Prenatal Testing) in routine clinical practice emphasizing its high sensibility and specificity. In any case, false positive and false negative findings may result from placental mosaicism, because cell-free fetal DNA originates mainly from placenta. Case: we report six cases of women who underwent chorionic villus sampling (CVS) or amniocentesis to confirm the results from NIPT: two Turner syndromes, two Triple X, one Patau syndrome, one Edward syndrome. Results: using classic cytogenetic analysis and, also, Array - Comparative Genomic Hybridization(Array CGH) the karyotype of all 5 fetuses was found to be normal. Conclusion: results from NIPT must always be confirmed by invasive prenatal diagnosis. It is mandatory to inform the patient that the CVS and amniocentesis still represent the only form of prenatal diagnostic test available.

Journal ArticleDOI
TL;DR: For CMA to be maximally useful in prenatal diagnosis, parental DNA samples as well as robust datasets to provide predictive phenotypic information are required.
Abstract: Objective: We studied the clinical utility of chromosomal microarray analysis (CMA) in prenatal diagnosis in a clinical setting in New York City.Methods: Our center began offering CMA to pregnant women undergoing invasive diagnostic procedures for an abnormal structural finding on ultrasound, maternal age of 35 years or older, or elevated risk on aneuploidy screening, beginning March 2012. Our first six months experience is reported.Results: Benign familial variants were the most common finding (16/22 fetuses). Variants of uncertain significance were frequent, especially when fathers were not available for testing (4/22 fetuses). Most patients undertook CMA as part of evaluation of an ultrasound anomaly (52%). One patient terminated a pregnancy based on an ultrasound finding in the setting of a benign familial variant on CMA, and a second terminated a pregnancy based on a copy number variant identified on CMA.Conclusion: For CMA to be maximally useful in prenatal diagnosis, parental DNA samples as...

Journal ArticleDOI
TL;DR: In this article, the authors evaluated whether the current screening regimen of measuring amniotic fluid alpha-fetoprotein (AF-AFP) at the time of amniocentesis and reflex acetylcholinesterase testing vs ultrasound alone to detect neural tube and ventral wall defects.

Journal ArticleDOI
TL;DR: There is insufficient evidence on the benefits and harms of fetal assessment methods for improving neonatal and maternal outcomes in women with PPROM, and there are few statistically significant differences in outcomes between the comparisons.
Abstract: Background Fetal assessment following preterm prelabour rupture of membranes (PPROM) may result in earlier delivery due to earlier detection of fetal compromise. However, early delivery may not always be in the fetal or maternal interest, and the effectiveness of different fetal assessment methods in improving neonatal and maternal outcomes is uncertain. Objectives To study the effectiveness of fetal assessment methods for improving neonatal and maternal outcomes in PPROM. Examples of fetal assessment methods that would be eligible for inclusion in this review include fetal cardiotocography, fetal movement counting and Doppler ultrasound. Search methods We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (30 June 2014) and reference lists of retrieved studies. Selection criteria Randomised controlled trials comparing any fetal assessment methods, or comparing one fetal assessment method to no assessment. Data collection and analysis Two review authors independently assessed trials for inclusion into the review. The same two review authors independently assessed trial quality and independently extracted data. Data were checked for accuracy. Main results We included three studies involving 275 women (data reported for 271) with PPROM at up to 34 weeks' gestation. All three studies were conducted in the United States. Each study investigated different methods of fetal assessment. One study compared weekly endovaginal ultrasound scans with no assessment (n = 93), one compared amniocentesis with no assessment (n = 47), and one compared daily nonstress testing with daily modified biophysical profiling (n = 135). We were unable to perform a meta-analysis, but were able to report data from individual studies. There was no convincing evidence of increased risk of neonatal death in the group receiving endovaginal ultrasound scans compared with the group receiving no assessment (risk ratio (RR) 7.30, 95% confidence interval (CI) 0.39 to 137.54; one study, 92 women), or in the group receiving amniocentesis compared with the group receiving no amniocentesis (RR 1.00, 95% CI 0.07 to 15.00; one study, 44 women). For both these interventions, we inferred that there were no fetal deaths in the intervention or control groups. The study comparing daily nonstress testing with daily modified biophysical profiling did not report fetal or neonatal death. Primary outcomes of maternal death and serious maternal morbidity were not reported in any study. Overall, there were few statistically significant differences in outcomes between the comparisons. The overall quality of evidence is poor, because participant blinding was not possible for any study. Authors' conclusions There is insufficient evidence on the benefits and harms of fetal assessment methods for improving neonatal and maternal outcomes in women with PPROM to draw firm conclusions. The overall quality of evidence that does exist is poor. Further high-quality randomised controlled trials are required to guide clinical practice.

Journal Article
TL;DR: Combined detection of IL-8 and Annexin-A2 levels in identifying preterm delivery within 2 weeks in PTL and PPROM is of possible clinical and predictive value.
Abstract: OBJECTIVE To investigate the clinical significance and value in the prediction of preterm delivery of combined amniotic fluid IL-8 and Annexin A2 levels in preterm premature rupture of membranes (PPROM) and preterm labor (PTL). STUDY DESIGN Sixty pregnant women at < 32 gestational weeks who developed PTL were divided into a PPROM group and a non-PPROM group. Ten normal pregnant women served as a control group. IL-8 and Annexin A2 levels were measured in amniotic fluid samples from each patient. RESULTS Amniotic fluid IL-8 and Annexin-A2 levels in PTL (PPROM and non-PPROM groups) were significantly higher than those of the controls (p < 0.05). The PPROM group displayed higher amniotic fluid Annexin-A2 levels than did the non-PPROM group, with a statistically significant difference (p < 0.05). The PPROM group showed higher amniotic fluid IL-8 levels than did the non-PPROM group; however, this was statistically insignificant (p = 0.56). Combined detection of amniotic fluid IL-8 and Annexin-A2 in the prediction of preterm delivery within 2 weeks of measurement showed sensitivity of 81.25%, specificity of 88.89% and PPV of 92.86%. CONCLUSION Amniotic fluid IL-8 and Annexin-A2 levels are associated with the occurrence of PPROM and PTL. Combined detection of IL-8 and Annexin-A2 levels in identifying preterm delivery within 2 weeks in PTL and PPROM is of possible clinical and predictive value.

Journal ArticleDOI
TL;DR: Vaginal LF administration decreases amniotic IL-6 concentration, and it is suggested that the glycoprotein may exert a protective role against ominous pregnancy complications linked to an increased level of the cytokine, such as abortion secondary to amniocentesis.
Abstract: Aim: To verify the eventual efficacy of lactoferrin (LF), an iron-binding glycoprotein, to decrease the amniotic concentration of interleukin-6 (IL-6). &