• Established causes of recurrent miscarriage include the presence of antiphospholipid antibodies (aPLs), uterine anomalies and abnormal chromosomes, particularly translocations, in either partner, (Farquharson et al . (medscape.com)
  • Karyotyping is a test to examine chromosomes in a sample of cells. (medlineplus.gov)
  • Scientists funded by the National Institutes of Health have developed a same-day test to identify abnormal fetal chromosomes. (nih.gov)
  • The Short-read Transpore Rapid Karyotyping (STORK) test can detect extra or missing chromosomes (i.e., aneuploidy) using samples collected from prenatal tests, such as amniocentesis and chorionic villus sampling, as well as tissue obtained from miscarriage and biopsies from pre-implantation embryos produced using in vitro fertilization (IVF). (nih.gov)
  • Fetal aneuploidy (defined as an abnormal number of chromosomes) has been detected in 55% of first trimester losses, but only 35% of second trimester and 5% of third trimester losses. (nih.gov)
  • In the samples with normal karyotyping results, type-B ultrasound showed that 6% of chromosomal deficiencies or chromosome duplications could be detected by microarray technology, and the same abnormal chromosomes were detected in 1.7% of elderly parturient women and samples with positive serology screening results. (geneticsmr.com)
  • Therefore, an abnormal number of X chromosomes-loss of an X chromosome in females (Turner syndrome) or gain of an extra chromosome in males (Klinefelter syndrome)-can lead to profound imbalances in gene dosage on the X chromosome and thus to non-standard phenotypes in humans [ 4 ]. (biomedcentral.com)
  • Molecular studies to gain knowledge on the changes in epigenetics and gene expressions associated with abnormal numbers of chromosomes could improve the understanding of the molecular basis of these symptoms. (biomedcentral.com)
  • Aneuploidy denotes an abnormal number of chromosomes in cells. (aao.org)
  • Karyotype is a test to identify and evaluate the size, shape, and number of chromosomes in a sample of body cells. (familyphysiciansoflaramie.com)
  • Extra or missing chromosomes, or abnormal positions of chromosome pieces, can cause problems with a person's growth, development, and body functions. (familyphysiciansoflaramie.com)
  • The shape or size of one or more chromosomes is abnormal. (familyphysiciansoflaramie.com)
  • Nancy Rose, chair of ACOG's committee on genetics and a professor of obstetrics and gynecology at the University of Utah in Salt Lake City, said that while patients undergoing invasive prenatal testing who have structurally normal fetuses are free to request either CMA or conventional karyotyping, it was ACOG and SMFM's conclusion that the data provided by CMA is best for fetal anomalies. (genomeweb.com)
  • The advantage of microarray (array) over conventional karyotype for the diagnosis of fetal pathogenic chromosomal anomalies has prompted the use of microarrays in prenatal diagnostics. (mdpi.com)
  • Background The aim of this guideline is to provide updated recommendations for Canadian genetic counsellors, medical geneticists, maternal fetal medicine specialists, clinical laboratory geneticists and other practitioners regarding the use of chromosomal microarray analysis (CMA) for prenatal diagnosis. (bmj.com)
  • Methods A multidisciplinary group consisting of medical geneticists, genetic counsellors, maternal fetal medicine specialists and clinical laboratory geneticists was assembled to review existing literature and guidelines for use of CMA in prenatal care and to make recommendations relevant to the Canadian context. (bmj.com)
  • The clinical question to be answered is whether emerging genomic screening approaches can identify variants or mutations which predict risk for embryonic/fetal loss in subsequent pregnancies beyond standard karyotype approaches with the ultimate hope that this information will be informative for counseling patients regarding their best reproductive options in future pregnancies. (nih.gov)
  • All aneuploids and non-parallel translocations in 4282 cases of non-chimera identified by karyotyping could be detected using microarray analysis technology, whereas parallel translocations and fetal triploids could not be detected by microarray analysis technology. (geneticsmr.com)
  • Selective intrauterine fetal growth restriction (sIUGR) in monochorionic diamniotic twins, especially types 2&3 with abnormal umbilical artery Doppler, results in increased risk of fetal/perinatal mortality and postnatal disability. (biomedcentral.com)
  • 2. Clinicopathologic and Molecular Analysis of Normal Karyotype Therapy-Related and De Novo Acute Myeloid Leukemia: A Multi-Institutional Study by the Bone Marrow Pathology Group. (nih.gov)
  • 4. ASXL1 mutation as a surrogate marker in acute myeloid leukemia with myelodysplasia-related changes and normal karyotype. (nih.gov)
  • 8. What Is Abnormal in Normal Karyotype Acute Myeloid Leukemia in Children? (nih.gov)
  • CYP1A1*2B (Val) allele is overrepresented in a subgroup of acute myeloid leukemia patients with poor-risk karyotype associated with NRAS mutation, but not associated with FLT3 internal tandem duplication. (nih.gov)
  • Acute myeloid leukemia (AML) is often characterized by cytogenic abnormalities, such as an addition of chromosome 8 (i.e., trisomy 8, found in about 10% of patients with AML) or other alterations, such as abnormal 11q23 or a complex karyotype, all of which may affect risk. (medpagetoday.com)
  • A subset of myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) show complex karyotype (CK), and these cases include a relatively high proportion of cases of therapy-related myeloid neoplasms and TP53 mutations. (stanford.edu)
  • LN2017 risk in patients with trisomy 8 was worse ( P =.03) and these patients were more likely to have a complex karyotype ( P =.03). (medpagetoday.com)
  • TP53 mutation defines a unique subgroup within complex karyotype de novo and therapy-related MDS/AML. (stanford.edu)
  • The majority of t-MNs show chromosomal abnormalities associated with myelodysplastic syndrome (MDS) or KMT2A rearrangements and are characterized by poor clinical outcomes. (nih.gov)
  • Larger chromosomal disorders are generally detected on karyotype. (wikipedia.org)
  • ACOG and SMFM's new committee opinion replaces a November 2009 recommendation that CMA not be used in a prenatal setting, citing its inability to detect balanced chromosomal rearrangements and copy number variants of uncertain clinical significance, and higher costs. (genomeweb.com)
  • Karyotyping was done in 137 children suspected of having chromosomal abnormalities such as genetically uncertain syndromes, multiple congenital anomalies, short stature, dysmorphic features, unclassified mental retardation and Down syndrome. (who.int)
  • G-band karyotyping and fluorescence in situ hybridization (FISH) are currently the main techniques used in prenatal diagnosis of chromosomal abnormalities. (enzolifesciences.com)
  • The chromosomal abnormalities were present in 87% of the bone marrow cells whereas analysis of a skin biopsy revealed a normal male karyotype as well as a normal array-CGH result. (biomedcentral.com)
  • Approximately 50-60% of cases of MDS present chromosomal abnormalities, like the deletions of chromosome 5q and 7q, trisomy 8, and complex karyotypes. (intechopen.com)
  • The eponym Down syndrome summarizes a clinical description of certain distinctive, if variable, phenotypic features whereas the karyotype describes the chromosomal constitution of the cells and tissues studied. (aao.org)
  • Karyotyping also may be done to find out whether chromosomal problems may have caused a fetus to be stillborn. (familyphysiciansoflaramie.com)
  • 6. Clinical significance of cytogenetic and molecular genetic abnormalities in 634 Chinese patients with myelodysplastic syndromes. (nih.gov)
  • Genetic amniocentesis showed an abnormal karyotype of 45,XX,der(4)t(4;14)(p16.3;q12),-14. (bmj.com)
  • Methods: Clinical examination, conventional cytogenetic analysis, fluorescence insitu hybridization and molecular genetic analysis polymerease chain reaction were done on a 17 year old female patient. (longdom.org)
  • Clinical characteristics at diagnosis were collected, including peripheral white blood cell (WBC) counts, blast percentages in peripheral blood (PB) and bone marrow (BM), French-American-British (FAB) subtypes, cytogenetic risk group, and frequencies of common recurrent genetic mutations. (researchsquare.com)
  • Proportionally as NT increases, even with a normal karyotype , the re is a higher risk of adverse pregnancy outcomes such as miscarriage, intrauterine death, congenital heart defects and numerous other structural and genetic syndromes. (igenomix.it)
  • The genetic and molecular confirmation for an accurate clinical diagnosis of associated syndromes of a fetus presenting with increased nuchal translucency. (igenomix.it)
  • If he is found to carry the abnormal gene, his children must undergo genetic testing. (racgp.org.au)
  • Because the hydatidiform moles in these patients have abnormal genetic imprinting, we believe that this candidate gene is important for establishment of genetic imprinting in the maternal germline. (clinicaltrialsgps.com)
  • Microarray technology yields greater results in analysis of genetic abnormalities in stillbirths compared to karyotyping, largely because of the ability to analyze nonviable tissue. (g2intelligence.com)
  • Microarray analysis yielded significantly more results than karyotyping (87.4 percent versus 70.5 percent) and provided better detection of genetic abnormalities (aneuploidy or pathogenic copy-number variants) than karyotyping (8.3 percent versus 5.8 percent). (g2intelligence.com)
  • Microarray analysis provided a relative increase in the diagnosis of genetic abnormalities of 41.9 percent in all stillbirths, 34.5 percent in antepartum stillbirths, and 53.8 percent in stillbirths with anomalies, compared with karyotyping. (g2intelligence.com)
  • Since the information obtained from karyotyping can have a profound impact on your life, you may want to see a doctor who specializes in genetics (geneticist) or a genetic counselor . (familyphysiciansoflaramie.com)
  • This type of counselor is trained to help you understand what karyotype test results mean for you, such as your risk for having a child with an inherited (genetic) condition like Down syndrome . (familyphysiciansoflaramie.com)
  • Ask to have genetic counseling before making a decision about a karyotype test. (familyphysiciansoflaramie.com)
  • Objective: Numerical abnormalities of sex chromosome, 47,XXY karyotype, have the clinical phenotype of Klinefelter syndrome. (longdom.org)
  • There was one paper conforming to the QUADAS standards including 4406 gravidas with adaptability syndromes of prenatal diagnosis including elderly parturient women, abnormal structure by type-B ultrasound, and other abnormalities. (geneticsmr.com)
  • Background: It is important to diagnose testicular feminization due to other abnormalities with similar clinical findings which needs different treatments. (ugm.ac.id)
  • When factoring variants of unknown significance into the comparison of karyotyping versus microarray technology, there was an even greater significant detection of abnormalities with microarray technology (13 percent versus 5.8 percent). (g2intelligence.com)
  • For nearly 50 years, karyotyping has been the backbone of prenatal diagnostic testing for congenital anomalies, but rapid advances in genomic technologies are outpacing both this tried-and-true method and others poised to take its place. (aacc.org)
  • This long-awaited National Institute of Child Health and Human Development (NICHD)-funded study demonstrated that single nucleotide polymorphism (SNP)-based and comparative genomic hybridization microarrays found all the aneuploidies and unbalanced rearrangements identified by karyotyping. (aacc.org)
  • Recent advances in genomics have dramatically increased our capacity to analyze abnormal cells, revealing a multitude of changes in genomic DNA, such as mutations and copy number alterations. (enzolifesciences.com)
  • Many genomic tests have reached clinical practice without clear indication as to whether their use will actually improve health. (cdc.gov)
  • The testicular feminization syndrome is a female phenotype with a male karyotype (46,XY). (longdom.org)
  • Wapner was the principal investigator of a recent landmark clinical trial that compared microarray analysis against karyotyping in more than 4,000 women referred for prenatal diagnosis based on maternal age, abnormal Down syndrome screening results, anomalies identified on ultrasound, or other indications (N Engl J Med 2012;367:2175-84). (aacc.org)
  • Additionally, microarrays detected clinically relevant deletions or duplications in 6% of samples referred due to anomalies on ultrasound and in 1.7% referred because of advanced maternal age or positive screening results, all of which had normal karyotype results. (aacc.org)
  • Although technically a definitive diagnosis of BPH is only possible by biopsy, such an invasive approach is not necessary to institute a therapy if clinical signs are present, and from a practical standpoint ultrasound assessment of prostatic size and presence of cysts is often the only thing that is necessary to identify the problem and start dealing with it. (vin.com)
  • The clinical classification of sIUGR is according to Doppler waveform of end-diastolic velocity in umbilical artery flow (UAF), diagnosed by ultrasound (Gratacos et al. (biomedcentral.com)
  • Results: Clinical examination revealed that the case had a female external genitalia, breast development and pubic hair. (longdom.org)
  • Clinical findings are female external genitalia at birth, abnormal secondary sexual development in puberty, infertility in individuals with a 46, XY karyotype as typically characterized AIS. (selcukmedj.org)
  • Patient: Phenotypic girl aged 9 years with abnormal external genitalia revealed large clitoris-like structure, normal labia majora, a blind vaginal pouch and no palpable uterus and adnexa. (ugm.ac.id)
  • However, the prevalence of recurrent miscarriage caused by an abnormal embryonic karyotype has not yet been reported, since embryonic karyotype is not typically analyzed during conventional examinations. (medscape.com)
  • Methods A total of 482 patients who underwent both embryonic karyotype determination and conventional examinations for recurrent miscarriage were enrolled in this study. (medscape.com)
  • The prevalence of the abnormal embryonic karyotype was 41.1% in the subjects in whom no conventional causes of miscarriage could be identified. (medscape.com)
  • Among the patients in whom the first determination revealed an abnormal embryonic karyotype, 76.2% (32/42) showed an abnormal embryonic karyotype in the repeat determination as well. (medscape.com)
  • The cumulative live birth rate (71.9%) in women with recurrent miscarriages caused by the abnormal embryonic karyotype was significantly higher than that (44.7%) in women with recurrent miscarriages associated with the embryonal euploidy. (medscape.com)
  • Conclusion An abnormal embryonic karyotype was found to represent the commonest cause of recurrent miscarriage, and the percentage of cases with recurrent miscarriage of truly unexplained cause was limited to 24.5%.The two groups should be distinguished for both clinical and research purposes. (medscape.com)
  • We found that the abnormal embryonic karyotype rate was as high as 51% in subjects with recurrent miscarriages, even though it was significantly lower than that of 76.3% in patients with sporadic miscarriages (Ogasawara et al . (medscape.com)
  • 2000). Many reports have suggested that the abnormal embryonic karyotype contributes to not only sporadic, but also to recurrent miscarriage (Stern et al . (medscape.com)
  • 2010). However, to the best of our knowledge, there are no reports of the precise distribution of all causes of recurrent miscarriage, because embryonic karyotype analysis cannot be performed in all centers, including research centers. (medscape.com)
  • Information about the prevalence of an abnormal embryonic karyotype in women with a history of recurrent miscarriage and their future prognosis is still limited. (medscape.com)
  • Hydatidiform mole (HM) is the product of an aberrant human pregnancy in which there is abnormal embryonic development and abnormal proliferation of placental villi. (clinicaltrialsgps.com)
  • In particular, she mentioned the publication last year of results obtained through a US National Institute of Child and Human Development-sponsored trial that compared CMA with conventional karyotyping. (genomeweb.com)
  • The NICHD trial is the first large multicenter prospective trial comparing its efficacy with conventional karyotype. (genomeweb.com)
  • According to ACOG and SMFM, another benefit of CMA over conventional karyotype is that it relies on array results analyzed by software. (genomeweb.com)
  • Conventional karyotype has a crucial role in myelodysplastic syndrome (MDS) and is one of items of the International Prognostic Scoring System (IPSS) for patient risk stratification and treatment selection. (intechopen.com)
  • In patients with abnormal karyotype (n = 3), 1 had trisomy 18 (47,XX) and died after 3 months and 2 had different types of mosaic Turner syndrome. (who.int)
  • Parmi les nouveau-nés présentant un caryotype anormal (n = 3), l'un, souffrant de trisomie 18 (47,XX), est décédé à l'âge de trois mois, tandis que les deux autres enfants étaient atteints de différents types de syndrome de Turner en mosaïque. (who.int)
  • 12. [Mutation analysis of 77 patients with normal-karyotype myelodysplastic syndrome]. (nih.gov)
  • The pregnancy was complicated by threatened miscarriage in the early stage and abnormal second-trimester screening with a high risk of 1/16 for Down syndrome, but amniocentesis revealed a normal karyotype of 46, XX. (springer.com)
  • This is a big step forward, monumental even, because prenatal diagnostics have been focused for so long on Down syndrome detected by karyotyping, which is a very crude way to look at someone's genome," he explained. (aacc.org)
  • Most of individuals with 47,XXY karyotype are exclusively males phenotypes who are presenting with the clinical phenotype of Klinefelter syndrome (KS) because of the Y chromosome. (longdom.org)
  • A woman with complete androgen insensitivity syndrome (CAIS) has a nearly normal female body despite a 46XY karyotype and testes, a condition termed testicular feminization in the past. (t-vox.org)
  • In this case, additional karyotype testing showed 46,XX, thus ruling out classic Turner syndrome. (medscape.com)
  • However, G-banding has limited levels of resolution making abnormal calls somehow problematic while FISH is often inadequate as it relies on syndrome-specific FISH probes that are mainly designed for targeted screening and not whole genome analysis. (enzolifesciences.com)
  • Prenatal diagnosis of Noonan syndrome in fetuses with increased nuchal translucency and a normal karyotype. (igenomix.it)
  • A yolk sac larger than about 5mm is associated with a very high ( as high as 90% in some studies ) prevalence of abnormal karyotype, such as Down syndrome, Trisomy 22, Klinefelter's disorder, and all the other ways your genes can have too many copies. (woodbetween.world)
  • Aim: To diagnose early testicular feminization syndrome by clinical findings, hormone levels, and chromosome analysis. (ugm.ac.id)
  • Clinical features of this syndrome have been well known since John Langdon Down originally described them in 1866. (aao.org)
  • A small but substantial subset of patients have normal karyotype (NK) and their clinical characteristics and mutational profiles are not well studied. (nih.gov)
  • Background We previously found that a normal karyotype in a previous miscarriage is a predictor of subsequent miscarriage. (medscape.com)
  • On the other hand, this group of couples have a better long-term live birth rate than those where miscarried embryos have normal karyotype. (wikipedia.org)
  • In 1985 [ 6 ], a small study of 28 patients was unable to demonstrate a survival difference between normal and abnormal karyotype. (nature.com)
  • The present case has different clinical features including normal phenotype, breast development and normal gentelia, tubes, ovaries, but hypoplastic uterus. (longdom.org)
  • Chemotherapy may cause chromosome breaks that affect normal karyotyping results. (medlineplus.gov)
  • NPMc+ AML associates with normal karyotpe, and shows wide morphological spectrum, multilineage involvement, a unique gene expression signature, a high frequency of FLT3-internal tandem duplications, and distinctive clinical and prognostic features. (haematologica.org)
  • The serum testosterone concentration was not substantially increased and the karyotype was 46XY. (ugm.ac.id)
  • Information is shown for the items: Risk factors in this pregnancy, Obstetric procedures, Characteristics of Objectives --This is the first report to present maternal and infant labor and delivery, Method of delivery, Abnormal conditions of the health information exclusive to the 2003 revision of the U.S. Standard newborn, and Congenital anomalies of the newborn. (cdc.gov)
  • 20%), tetraploidy, balanced alterations (e. g. reciprocal translocations), methylation anomalies and other epigenetic events, or point mutations that may be responsible for a clinical phenotype. (uwcpdx.org)
  • A karyotype should be performed as a part of the routine evaluation after the diagnosis of primary ovarian insufficiency is established. (medscape.com)
  • The differential diagnosis is mainly based on the presence of dysgranulopoiesis, dysmegakaryocytopoiesis, an increased percentage of blasts, and abnormal karyotype, all favouring the diagnosis of hMDS. (nih.gov)
  • An accurate diagnosis has important clinical implications, as the prognosis and treatment can be quite different for these diseases. (nih.gov)
  • The diagnosis of stillbirth is clinical. (msdmanuals.com)
  • Some clinical findings of the patients are unique and not similar to the other cases reported in the literature. (longdom.org)
  • Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 9 41 (1): 132-142. (cdc.gov)
  • Current prognostication in primary myelofibrosis (PMF) relies on information from clinical variables, karyotype and mutations. (nature.com)
  • Thus, we have broadened the phenotypical spectrum of DNA2 mutations, incorporating clinical characteristics of RTS. (bvsalud.org)
  • Our case adds to the list of clinical phenotypes associated with the proximal regions of 14q. (bmj.com)
  • Both syndromes are associated with several clinical phenotypes, whose molecular mechanisms are obscure, and show a range of inter-individual penetrance. (biomedcentral.com)
  • On Clinical examination she had a uterus up to 14 weeks of gestation with irregular contour affirming multiple leiomyomas. (isge.org)
  • In 50% of involuntarily childless couples, a male-infertility-associated factor is found, usually together with abnormal semen parameters [ 1749 ]. (uroweb.org)
  • found that CMA revealed more clinically relevant chromosome deletions and duplications than did standard karyotyping, even when the reason for pursuing testing was maternal age or abnormal serum screening results. (uwcpdx.org)
  • They also noted in their opinion that CMA results are usually available sooner than karyotype results. (genomeweb.com)
  • The researchers also found that microarray results generally were available sooner than those of karyotypes, owing to most microarray specimens not needing to be cultured, which is necessary for karyotyping. (aacc.org)
  • Altogether, these results demonstrated the ability of this prenatal testing approach to detect all CNVs of clear clinical significance. (enzolifesciences.com)
  • Results of a karyotype test are usually available within 1 to 2 weeks. (familyphysiciansoflaramie.com)
  • It also circumvented the need to interpret CNVs of unknown clinical significance and the parental anxiety associated with it. (enzolifesciences.com)
  • Ordering providers can choose whether or not variants of uncertain clinical significance are reported. (uwcpdx.org)
  • Deletions and duplications of ≥400 kb are reported, even if clinical significance is unclear, as per provider request. (uwcpdx.org)
  • Some of the pathogenic variants that were detected on microarray analysis may represent unbalanced translocations, which can be missed by karyotyping. (g2intelligence.com)
  • In this clinical situation, patients also fail to respond adequately to FSH therapy during attempts at superovulation. (medscape.com)
  • In 46,XX karyotype patients (n = 14), congenital adrenal hyperplasia and general malformation disorder were the most common causes of genital ambiguity, while in 46,XY karyotype patients (n = 18), testosterone pathway biosynthetic defect was the most common cause even in conjunction with a generalized malformation disorder. (who.int)
  • The karyotype was undetermined in 6 patients. (who.int)
  • We assayed NRAS oncogene mutation and FLT3 internal tandem duplication in 447 AML patients with an abnormal karyotype treated in Medical Research Council (MRC) AML clinical trials. (nih.gov)
  • There is compelling evidence that these distinct clinical entities share a common pathophysiology based on the damage of hematopoietic stem and progenitor cells (HSPCs) by cytotoxic T cells. (nih.gov)
  • Cells show abnormal karyotype. (coriell.org)
  • Observations regarding the prognostic contribution of karyotype in PMF span over 30 years. (nature.com)
  • Here, we described total clinical characteristics of the case of a Chinese patient with compound heterozygous variations in IARS1 . (springer.com)
  • Frequently, clinical situations arise where extensive injury, congenital malformations or diseases cause large bone defects, and reconstruction with tissue grafting is needed. (biomedcentral.com)
  • Abnormal sex chromosome numbers in humans are observed in Turner (45,X) and Klinefelter (47,XXY) syndromes. (biomedcentral.com)
  • Both syndromes have the hallmark characteristic of abnormal endocrine balance and display hypergonadotropic hypogonadism [ 8 - 10 ]. (biomedcentral.com)
  • Phase 3 trials are needed to confirm these data before this regimen can be adopted in clinical practice. (valuebasedcancer.com)
  • In couples where a miscarried embryo has an abnormal karyotype, 76% of subsequent miscarried embryos have shown abnormal karyotypes as well. (wikipedia.org)
  • Pregnancies that had ended in miscarriage had also shown large yolk sacs earlier, and when looking only at pregnancies leading to miscarriage it also showed a connection between the large yolk sacs and abnormal karyotype. (woodbetween.world)
  • Karyotyping relies on microscope analysis, "which is prone to human error," the organizations stated. (genomeweb.com)
  • This clinical state is characterized by elevated basal serum FSH levels in association with disordered menstrual cycles as demonstrated by oligomenorrhea, polymenorrhea, or metrorrhagia. (medscape.com)
  • The metabolic pathway analysis highlighted the associations of sIUGR twins with abnormal umbilical artery flow with increased metabolites from a nutrient depletion pathway, glutathione metabolism, and nerve development. (biomedcentral.com)
  • Amenorrhea is the absence of menarche by age 16 years (PA) or the abnormal cessation of established menses (secondary amenorrhea). (medscape.com)
  • After testing of more than 3,100 cases, the authors found that microarray analysis had an additional 8.2% diagnostic yield in comparison to karyotyping. (aacc.org)
  • Of the 157 stillbirths for which karyotyping failed to yield a definitive result, 79.6 percent yielded a definitive microarray result, of which 5.7 percent were abnormal. (g2intelligence.com)
  • Standardized ultrasonography was performed on the fetuses and pregnancy outcomes were tracked in abnormal cases. (ijpsonline.com)
  • This is good info to know for researchers, but probably also not good info for clinical practitioners to give out to anxious parents-to-be. (woodbetween.world)
  • She also had significant growth retardation, muscular hypotonia, chubby and flabby face, recurrent loose stools, and abnormal brain computed tomography (CT), while zinc deficiency and hearing loss were not present. (springer.com)
  • Some preliminary studies suggest that anticoagulant medication may improve the chances of carrying pregnancy to term but these studies need to be confirmed before they are adopted in clinical practice. (wikipedia.org)
  • So as we transition the technology from the lab into clinical practice we really have to work as a team to use it appropriately. (aacc.org)