161,651 results match your criteria Prenatal Imaging Findings in Down Syndrome


Pitfall in genetic screening in a pregnancy involving an allogeneic hematopoietic stem cell transplantation recipient.

Prenat Diagn 2018 Dec 6. Epub 2018 Dec 6.

Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.

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December 2018
7 Reads

DHA supplementation during prenatal ethanol exposure alters the expression of fetal rat liver genes involved in oxidative stress regulation.

Appl Physiol Nutr Metab 2018 Dec 6. Epub 2018 Dec 6.

University of Manitoba, Food and Human Nutritional Sciences, Winnipeg, Manitoba, Canada.

Prenatal ethanol (EtOH) exposure is known to induce adverse effects on fetal brain development. Docosahexaenoic acid (DHA) has been shown to alleviate these effects by upregulating antioxidant mechanisms in the brain. The liver is the first organ to receive enriched blood after placental transport; therefore, it could be negatively affected by EtOH, but no studies have assessed the effects of DHA on fetal liver. Read More

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December 2018

Role of FGF signalling in neural crest cell migration during early chick embryo development.

Zygote 2018 Dec 6:1-8. Epub 2018 Dec 6.

1Department of Histology and Embryology, International Joint Laboratory for Embryonic Development & Prenatal Medicine, Medical College,Jinan University,Guangzhou 510632,China.

SummaryFibroblast growth factor (FGF) signalling acts as one of modulators that control neural crest cell (NCC) migration, but how this is achieved is still unclear. In this study, we investigated the effects of FGF signalling on NCC migration by blocking this process. Constructs that were capable of inducing Sprouty2 (Spry2) or dominant-negative FGFR1 (Dn-FGFR1) expression were transfected into the cells making up the neural tubes. Read More

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December 2018

Neurodevelopmental outcome in children with spina bifida aperta repaired prenatally versus postnatally: a systematic review and meta-analysis.

Ultrasound Obstet Gynecol 2018 Dec 6. Epub 2018 Dec 6.

Academic Department Development and Regeneration, Cluster Woman and Child, Biomedical Sciences, Faculty of Medicine, Catholic University of Leuven, Leuven, Belgium.

Objective: To assess the neurodevelopmental outcome of children with spina bifida aperta (SBA) who were treated prenatally as compared to those treated postnatally.

Methods: We performed a systematic review of the literature comparing neurological outcomes of prenatally and postnatally repaired spina bifida in Pubmed/MEDLINE, Embase, Web of Science and Cochrane Library. We retrieved all randomized and non-randomized prospective controlled studies. Read More

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December 2018
2 Reads

Are We Justified in Introducing Carbon Monoxide Testing to Encourage Smoking Cessation in Pregnant Women?

Authors:
Catherine Bowden

Health Care Anal 2018 Dec 5. Epub 2018 Dec 5.

School of Law, The University of Manchester, Oxford Road, Manchester, M13 9PL, UK.

Smoking is frequently presented as being particularly problematic when the smoker is a pregnant woman because of the potential harm to the future child. This premise is used to justify targeting pregnant women with a unique approach to smoking cessation including policies such as the routine testing of all pregnant women for carbon monoxide at every antenatal appointment. This paper examines the evidence that such policies are justified by the aim of harm prevention and argues that targeting pregnant women in this way is likely to do more harm than good. Read More

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December 2018

Chronic mercury exposure and blood pressure in children and adolescents: a systematic review.

Environ Sci Pollut Res Int 2018 Dec 6. Epub 2018 Dec 6.

FISABIO-UJI-Universitat de València Joint Research Unit in Epidemiology and Environmental Health, Valencia, Spain.

The aim of this paper is to systematically review the scientific literature on the possible relation of chronic mercury exposure and blood pressure among children and adolescents. We searched for observational studies in 6 electronic databases and grey literature for English, French or Spanish language studies published up to 30 November 2017. We performed a quality assessment of primary studies. Read More

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December 2018

Cesarean section scar in 3 T magnetic resonance imaging and ultrasound: image characteristics and comparison of the methods.

Arch Gynecol Obstet 2018 Dec 5. Epub 2018 Dec 5.

Department of Obstetrics, University of Leipzig, Liebigstrasse 20a, 04103, Leipzig, Germany.

Purpose: Uterine rupture during labor is a rare but life-threatening complication after previous cesarean section (CS). Prenatal risk is assessed using ultrasound thickness measurement of the lower uterine segment (LUS). Due to inhomogeneous study results, however, clinical obstetrics still lacks for standard protocols and reliable reference values. Read More

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December 2018
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Chromosomal abnormalities and copy number variations in fetal ventricular septal defects.

Mol Cytogenet 2018 28;11:58. Epub 2018 Nov 28.

Department of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children's Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.

Background: This study aimed to evaluate the applicability of chromosomal microarray analysis (CMA), rather than traditional chromosome analysis, in prenatal diagnosis of ventricular septal defects (VSDs) for superior prenatal genetic counseling and to reveal a potential correlation between submicroscopic chromosomal aberrations and VSDs.

Results: Among the 151 VSD cases, 79 (52.3%) had isolated defects and 72 (47. Read More

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November 2018
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Enrichment of the fetal fraction in non-invasive prenatal screening reduces maternal background interference.

Sci Rep 2018 Dec 5;8(1):17675. Epub 2018 Dec 5.

State Key Laboratory of Microbial Metabolism, Joint International Research Laboratory of Metabolic and Developmental Sciences, MOE-LSB and MOE-LSC, Department of Bioinformatics and Biostatistics, School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, 800 Dongchuan Road, Shanghai, 200240, China.

Measurement of cell-free fetal DNA (cffDNA) is an indispensable process for non-invasive prenatal screening (NIPS). According to recent studies, cffDNA in maternal plasma can be enriched for various lengths of fragments, and a sufficient amount of cffDNA can effectively eliminate background interference on the part of maternal DNA. Therefore, we developed a simple and effective separation method, improved NIPS (iNIPS), that enriches the fetal fraction and improves the accuracy of NIPS for fetal aneuploid detection. Read More

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December 2018

Intra-amniotic Sildenafil Treatment Modulates Vascular Smooth Muscle Cell Phenotype in the Nitrofen Model of Congenital Diaphragmatic Hernia.

Sci Rep 2018 Dec 5;8(1):17668. Epub 2018 Dec 5.

Department of Pediatric General and Thoracic Surgery, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, PA, USA.

The etiology of pulmonary vascular abnormalities in CDH is incompletely understood. Studies have demonstrated improvement in pulmonary vasculature with prenatal therapy in animal models. We hypothesize that prenatal sildenafil may attenuate defective pulmonary vascular development via modulation of vSMC phenotype from undifferentiated, proliferative phenotype to differentiated, contractile phenotype. Read More

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December 2018

Pregnancy-associated cancers and birth outcomes in children: a Danish and Swedish population-based register study.

BMJ Open 2018 Dec 4;8(12):e022946. Epub 2018 Dec 4.

Department of Public Health, Aarhus University, Aarhus, Denmark.

Objectives: This study aims to estimate the association between pregnancy-associated maternal cancers, diagnosed both prenatally and postnatally, and birth outcomes.

Design: Population-based register study.

Setting: National registers of Denmark and Sweden. Read More

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December 2018

DNA Methyltransferase 1 Controls Nephron Progenitor Cell Renewal and Differentiation.

J Am Soc Nephrol 2018 Dec 5. Epub 2018 Dec 5.

III. Department of Medicine,

Background: Nephron number is a major determinant of long-term renal function and cardiovascular risk. Observational studies suggest that maternal nutritional and metabolic factors during gestation contribute to the high variability of nephron endowment. However, the underlying molecular mechanisms have been unclear. Read More

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December 2018

Transamniotic stem cell therapy (TRASCET) in a rabbit model of spina bifida.

J Pediatr Surg 2018 Nov 5. Epub 2018 Nov 5.

Department of Surgery, Boston Children's Hospital and Harvard Medical School, Boston, MA. Electronic address:

Purpose: Transamniotic stem cell therapy (TRASCET) with select mesenchymal stem cells (MSCs) has been shown to induce partial or complete skin coverage of spina bifida in rodents. Clinical translation of this emerging therapy hinges on its efficacy in larger animal models. We sought to study TRASCET in a model requiring intra-amniotic injections 60 times larger than those performed in the rat. Read More

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November 2018

Molecular characterization of a 31 kDa protein from Trichinella spiralis and its induced immune protection in BALB/c mice.

Parasit Vectors 2018 Dec 5;11(1):625. Epub 2018 Dec 5.

Department of Parasitology, Medical College, Zhengzhou University, 40 Daxue Road, Zhengzhou, 450052, People's Republic of China.

Background: Trichinella spiralis is an important foodborne zoonotic parasite and it is necessary to develop a vaccine in order to interrupt transmission from animals to humans. A 31 kDa protein from T. spiralis (Ts31) is an antigen targeted by protective antibodies, and Ts31 contains a domain of trypsin-like serine protease that might have the function of serine protease. Read More

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December 2018

Prenatal exposure to phthalates and autism spectrum disorder in the MARBLES study.

Environ Health 2018 Dec 5;17(1):85. Epub 2018 Dec 5.

Department of Public Health Sciences, University of California, Davis, California, USA.

Background: Evidence from experimental and observational studies suggests that prenatal phthalate exposures may be associated with autism spectrum disorder (ASD). We examined whether prenatal phthalate exposures were associated with an increased risk of ASD.

Methods: We quantified 14 metabolites of eight phthalates in 636 multiple maternal urine samples collected during 2nd and 3rd trimesters of pregnancy from 201 mother-child pairs in MARBLES (Markers of Autism Risk in Babies - Learning Early Signs), a high-risk ASD longitudinal cohort. Read More

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December 2018

Prenatal sonographic diagnosis of Harlequin ichthyosis.

J Clin Ultrasound 2018 Dec 3. Epub 2018 Dec 3.

Department of Obstetrics and Gynaecology, Centro Hospitalar São João, Porto, Portugal.

Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyoses. So far, there are only a few reports of prenatal diagnosis in the literature, as prenatal sonographic features are quite subtle. We report a case of prenatal diagnosis of Harlequin ichthyosis on third-trimester sonographic examination in a consanguineous couple with no history of the disease and describe its characteristic sonographic features. Read More

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December 2018

Children exposed to maternal methadone treatment prenatally are at risk of abnormal neurodevelopment.

Authors:
Jon Skranes

Dev Med Child Neurol 2018 Dec 3. Epub 2018 Dec 3.

Regional Competence Center for Children with Prenatal Alcohol/Drug Exposure, Department of Pediatrics, Sørlandet Hospital, Arendal, Norway.

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December 2018

Contemporary management of prenatally diagnosed spina bifida aperta - an update.

Ginekol Pol 2018 ;89(11):637-641

1st Department of Obstetrics and Gynecology, Medical University of Warsaw, Poland.

Spina bifida aperta is a relatively common congenital defect that occurs in the general population. Once the disorder has been diagnosed, a discussion, that can be emotionally-charged, ensues about whether to treat it prenatally or to only offer surgery postnatally. Given that there are good arguments for and against both options, it is of paramount importance to gain a good understanding of the major advantages and disadvantages of the various surgical approaches. Read More

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January 2018

Maternal anaesthesia in open and fetoscopic surgery of foetal open spinal neural tube defects: A 6-year observational study.

Eur J Anaesthesiol 2018 Nov 30. Epub 2018 Nov 30.

From the Anaesthesiology and Intensive Care Department (SM, IG, MP, RP, DB, MdN), Maternal-Fetal Medicine Department (NM, SA, EC), Paediatric Surgery Department, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain (CG, JAM, ML).

Background: Prenatal myelomeningocele repair by open surgery can improve the neurological prognosis of children with this condition. A shift towards a fetoscopic approach seems to reduce maternal risks and improve obstetric outcomes.

Objective: The aim of this study was to report on the anaesthetic management of women undergoing prenatal open or fetoscopic surgery for neural tube defects. Read More

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November 2018

The development of a lifetime care model in comprehensive spina bifida care.

J Pediatr Rehabil Med 2018 Nov 20. Epub 2018 Nov 20.

Department of Neurosurgery, University of Alabama at Birmingham, Birmingham, AL, USA.

Purpose: To describe the development and implementation of the Children's of Alabama (COA) Spina Bifida (SB) Lifetime-Care-Model, including standardized care protocols and transition plan.

Methods: In 2010, members of the pediatric team at COA began to evaluate limitations in access to care for patients with SB at various stages of life. Through clinic surveys, observations, and caregiver report, a Lifetime-Care-Model was developed and implemented. Read More

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November 2018

The experience of parents with children with myelomeningocele who underwent prenatal surgery.

J Pediatr Rehabil Med 2018 Nov 18. Epub 2018 Nov 18.

Department of Physical Medicine and Rehabilitation, University of Pittsburgh, Pittsburgh, PA, USA.

Background: Prenatal surgery for myelomeningocele (MMC) has been demonstrated to have benefits over postnatal surgery. Nevertheless, prenatal surgery requires a significant emotional, physical, and financial commitment from the entire family.

Methods: Mixed methods study of parents' perceptions regarding provider communication, treatment choices, and the family impact of having a child with MMC. Read More

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November 2018

A Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family.

Cell J 2019 Apr 18;21(1):70-77. Epub 2018 Nov 18.

Department of Pediatrics Cardiology, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Electronic Address:

Objective: Tricuspid atresia (TA) is a rare life-threatening form of congenital heart defect (CHD). The genetic mechanisms underlying TA are not clearly understood. According to previous studies, the endocardial cushioning event, as the primary sign of cardiac valvulogenesis, is governed by several overlapping signaling pathways including Ras/ ERK pathway. Read More

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Oxytocin receptor agonist reduces perinatal brain damage by targeting microglia.

Glia 2018 Dec 2. Epub 2018 Dec 2.

PROTECT, Inserm U1141, Université Paris Diderot, Paris, France.

Prematurity and fetal growth restriction (FGR) are frequent conditions associated with adverse neurocognitive outcomes. We have previously identified early deregulation of genes controlling neuroinflammation as a putative mechanism linking FGR and abnormal trajectory of the developing brain. While the oxytocin system was also found to be impaired following adverse perinatal events, its role in the modulation of neuroinflammation in the developing brain is still unknown. Read More

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December 2018
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Finding a very rare mutation in non-Caucasian LCAT patients from Southwest Asia for the first time.

J Cell Biochem 2018 Dec 2. Epub 2018 Dec 2.

Genetic laboratory of Amirkola Children's Hospital, Babol University of Medical Sciences, Babol, Iran.

Introduction: Lecithin cholesterol acyltransferase (LCAT) deficiency is an autosomal recessive disorder occurred by different mutations in the LCAT gene that cause two extremely rare syndromes including familial LCAT deficiency (FLD) and fish-eye disease (FED). Unlike FED in FLD renal failure is the most important defect due to deposition of abnormal lipoproteins in the renal stroma. In this study, FLD patients from the North of Iran were investigated for mutations in the LCAT gene. Read More

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December 2018

List of reviewers for Prenatal Diagnosis 2018.

Authors:

Prenat Diagn 2018 Dec 2. Epub 2018 Dec 2.

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December 2018

Lithium during pregnancy and after delivery: a review.

Int J Bipolar Disord 2018 Dec 2;6(1):26. Epub 2018 Dec 2.

Department of Psychiatry, Erasmus University Medical Centre Rotterdam, Rotterdam, The Netherlands.

Lithium is an effective treatment in pregnancy and postpartum for the prevention of relapse in bipolar disorder. However, lithium has also been associated with risks during pregnancy for both the mother and the unborn child. Recent large studies have confirmed the association between first trimester lithium exposure and an increased risk of congenital malformations. Read More

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December 2018

Multi-rater developmental trajectories of hyperactivity-impulsivity and inattention symptoms from 1.5 to 17 years: a population-based birth cohort study.

Eur Child Adolesc Psychiatry 2018 Dec 1. Epub 2018 Dec 1.

Sainte-Justine University Hospital, Université de Montréal, Montreal, Canada.

The developmental course of hyperactivity-impulsivity and inattention symptoms from infancy to adolescence has not been documented in a population sample. The aim of this study was to describe the developmental course of hyperactivity-impulsivity and inattention symptoms from 1.5 to 17 years using multiple informants, and to identify perinatal risk factors associated with following elevated (high-risk) trajectories. Read More

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December 2018

Extracting Interesting Rules from Gestation Course Data for Early Diagnosis of Neonatal Hypoxia.

J Med Syst 2018 Dec 1;43(1). Epub 2018 Dec 1.

Volodymyr Dahl East Ukrainian National University, Severodonetsk, Ukraine.

The topic of neonatal hypoxia is of paramount importance to anyone who cares during pregnancy and childbirth. Modern medicine associates this pathology with severe problems in the prenatal period. Underlying diseases of the mother during pregnancy, her anamnesis of life are the leading causes of complications in the newborn. Read More

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December 2018

Noninvasive Detection of Fetal Aneuploidy Using Next Generation Sequencing.

Methods Mol Biol 2019 ;1885:325-345

Illumina, Inc., San Diego, CA, USA.

Cell-free DNA (cfDNA)-based noninvasive prenatal testing (NIPT) utilizing next generation sequencing (NGS) is a highly sensitive and specific approach designed to screen for fetal aneuploidy. NIPT was first introduced in 2011 and has been rapidly adopted in a clinical setting because of the improved performance afforded compared with traditional prenatal serum screening options. We describe a PCR-free, paired-end sequencing-based NIPT, the VeriSeq NIPT Solution. Read More

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January 2019

Isolation of Cell-Free DNA from Maternal Plasma.

Methods Mol Biol 2019 ;1885:309-323

Natera Inc., San Carlos, CA, USA.

Noninvasive prenatal genetic tests analyzing the cell-free fetal DNA in the circulation of expectant mothers are now performed routinely in clinical diagnostic laboratories. Leveraging the power of next generation sequencing (NGS), these tests can detect variation in chromosomal copy number or microdeletions early in gestation. All methods begin with blood collection followed by transport to the diagnostic lab, plasma separation, and purification of ccfDNA from the plasma to prepare it for molecular analysis. Read More

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January 2019

Quad Screen Test, A Multiplexed Biomarker Assay for Prenatal Screening to Assess Birth Defects: The Columbia University Experience Using the Beckman Access2 Immunoassay Analyzer and Benetech PRA.

Methods Mol Biol 2019 ;1885:297-307

Department of Pathology and Cell Biology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USA.

In the prenatal quad screen, the levels of four analytes in maternal serum are used to calculate the risk of serious birth defects. The Beckman Access2 Immunoassay System is an automated analyzer that enables rapid measurement of alpha-fetoprotein, unconjugated estriol, human chorionic gonadotropin, and dimeric inhibin A. The Benetech PRA software package is used to convert maternal serum analyte concentrations to multiples of the median (MoM) and calculates the risks of particular birth defects. Read More

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January 2019

Prenatal Diagnosis by Whole Exome Sequencing in Fetuses with Ultrasound Abnormalities.

Methods Mol Biol 2019 ;1885:267-285

Molecular Diagnostics, New York Genome Center, New York, NY, USA.

Whole-exome sequencing (WES) has been used as a standard of care for postnatal diagnosis in the clinical setting in the past few years for children and adults with undiagnosed disease. Many rare disorders have been diagnosed through WES, which is less expensive than the traditional serial genetic testing where patients had previously spent years on an uninformative diagnostic odyssey. Seeking a diagnosis often entails enduring time consuming, and sometimes invasive procedures which may be associated with medical risks that are stressful for families and impose a heavy burden on the health-care system. Read More

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January 2019

Next Generation Sequencing of Prenatal Structural Chromosomal Rearrangements Using Large-Insert Libraries.

Methods Mol Biol 2019 ;1885:251-265

Massachusetts General Hospital, Boston, MA, USA.

Precise tests for genomic structural variation (SV) are essential for accurate diagnosis of prenatal genome abnormalities. The two most ubiquitous traditional methods for prenatal SV assessment, karyotyping and chromosomal microarrays, do not provide sufficient resolution for some clinically actionable SVs. Standard whole-genome sequencing (WGS) overcomes shortcomings of traditional techniques by providing base-pair resolution of the entire accessible genome. Read More

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January 2019

Prenatal Diagnosis of Tay-Sachs Disease.

Methods Mol Biol 2019 ;1885:233-250

Mount Sinai Genomics, Inc., DBA Sema 4, New York, NY, USA.

Tay-Sachs disease (TSD) is an autosomal recessive lysosomal storage disorder caused by mutations of the HEXA gene resulting in the deficiency of hexosaminidase A (Hex A) and subsequent neuronal accumulation of G gangliosides. Infantile TSD is a devastating and fetal neurodegenerative disease with death before the age of 3-5 years. A small proportion of TSD patients carry milder mutations and may present juvenile or adult onset milder disease. Read More

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January 2019

Prenatal Diagnosis of Cystic Fibrosis.

Methods Mol Biol 2019 ;1885:221-231

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Cystic fibrosis (CF) is an inherited disease characterized by the accumulation of thick, sticky mucus which damages epithelia in organs such as the lungs, pancreas, liver, intestines, and other parts of the body. The most common symptoms are sinopulmonary disease and chronic gastrointestinal tract problems resulting from decreased mucociliary clearance and inflammation. CF is the most common life-limiting autosomal recessive disorder in people of northern European ancestry and it affects other populations with different prevalence. Read More

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January 2019
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Rapid Detection of Fetal Mendelian Disorders: Thalassemia and Sickle Cell Syndromes.

Methods Mol Biol 2019 ;1885:207-219

Department of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.

The inherited disorders of hemoglobin synthesis constitute the most common monogenic diseases worldwide. The clinical severity of β-thalassemia major and the sickle cell syndromes targets them as priority genetic diseases for prevention programs, which incorporates population screening to identify heterozygotes, with the option of prenatal diagnosis for carrier couples. Rapid genotype characterization is fundamental in the diagnostic laboratory, especially when offering prenatal diagnosis. Read More

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January 2019

Prenatal Diagnosis Using Chromosomal SNP Microarrays.

Methods Mol Biol 2019 ;1885:187-205

Department of Pathology and Cell Biology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USA.

Chromosomal microarray is a high resolution genomic technology to diagnose genetic conditions associated with losses or gains of the human genome. This technology is currently routinely used in numerous clinical settings, including postnatal diagnosis of disorders with genetic etiologies such as intellectual disability, developmental delay, neurocognitive phenotypes, congenital anomalies, and prenatal diagnosis wherein the referral could be ultrasound anomalies, advanced maternal age, and normal course of pregnancy. We describe the use of Chromosomal SNP microarrays for prenatal diagnosis of genetic disorders which result from both copy number or copy neutral changes in the genome. Read More

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January 2019

Chromosomal Microarray Analysis Using Array Comparative Genomic Hybridization on DNA from Amniotic Fluid and Chorionic Villus Sampling.

Authors:
Ankita Patel

Methods Mol Biol 2019 ;1885:171-186

Lineagen, Salt Lake City, UT, USA.

Chromosomal Microarray analysis offers an objective high resolution view of copy number changes in the genome that contribute to genomic disorders in various clinical setting such as postnatal, prenatal, and oncology. Here, we describe a fast and reliable method of using chromosomal microarray analysis in detection of genomic imbalances that may be associated with congenital malformations in a prenatal setting. Results can be obtained in 4-5 days using direct amniotic fluid (AF) or chorionic villus samples (CVS). Read More

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January 2019

Multiplex Ligation-Dependent Probe Amplification (MLPA) for Prenatal Diagnosis of Common Aneuploidies.

Methods Mol Biol 2019 ;1885:161-170

Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.

Multiplex Ligation-dependent Probe Amplification (MLPA) is a method to determine the copy number of up to 60 genomic DNA sequences in a single multiplex PCR based reaction.MLPA probes consist of two oligonucleotides that can hybridize next to each other on a certain DNA sequence of interest, where they are ligated. All ligated probes are subsequently amplified by PCR using a single set of primers. Read More

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January 2019

Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence PCR.

Methods Mol Biol 2019 ;1885:139-160

Prenatal Centre, Ragnitz Hospital, Graz, Austria.

Autosomal chromosome aneuploid pregnancies that survive to term, namely, trisomies 13, 18, and 21, account for 89% of chromosome abnormalities with a severe phenotype identified in prenatal samples. They are traditionally detected by full karyotype analysis of cultured cells. The average reporting time for a prenatal karyotype analysis is approximately 14 days, and in recent years, there has been increasing demand for more rapid prenatal results with respect to the common chromosome aneuploidies, to relieve maternal anxiety and facilitate options in pregnancy. Read More

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January 2019

Rapid Prenatal Aneuploidy Screening by Fluorescence In Situ Hybridization (FISH).

Methods Mol Biol 2019 ;1885:129-137

Jena University Hospital, Institute of Human Genetics, Friedrich Schiller University, Jena, Germany.

The most common aneuploidies observed in prenatal diagnostics in the second trimester are trisomies of the chromosomes 13, 18 or 21 and gonosomal abnormalities. Rapid detection of these aneuploidies after amniocentesis is possible by fluorescence in situ hybridization (FISH) utilizing centromeric or locus-specific probes. FISH aneuploidy screening results in uncultured amniocytes are available within 24 h or less. Read More

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January 2019

Assessment of Maternal Cell Contamination in Prenatal Samples by Quantitative Fluorescent PCR (QF-PCR).

Methods Mol Biol 2019 ;1885:117-127

Department of Pathology and Cell Biology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USA.

When biopsying a fetal tissue like chorionic villi or amniotic fluid, there is a chance of getting some maternal material that could contaminate the fetal specimen and might lead to a misdiagnosis. Thus, all prenatal samples should be subjected to testing for maternal cell contamination. This is done using quantitative fluorescent PCR (QF-PCR) of short tandem repeat (STR) markers. Read More

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January 2019

DNA Extraction from Various Types of Prenatal Specimens.

Methods Mol Biol 2019 ;1885:105-116

Department of Pathology and Cell Biology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USA.

A prenatal noninvasive genetic screening test that yields a positive result typically warrants further direct assessment of fetal DNA following an invasive procedure. The precious nature of these invasively acquired samples, combined with the time sensitive nature with which results should be reported, demands that the methodologies used for analysis be quick, efficient, and dependable.Prenatal diagnosis has been performed using DNA extracted from amniotic fluid and chorionic villi for several decades, and more recently methodologies have been developed to extract cell free fetal DNA from amniotic fluid. Read More

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January 2019

Noninvasive Approaches to Prenatal Diagnosis: Historical Perspective and Future Directions.

Authors:
Lisa Hui

Methods Mol Biol 2019 ;1885:45-58

Department of Perinatal Medicine, Mercy Hospital for Women, Heidelberg, VIC, Australia.

The field of prenatal screening and diagnosis has undergone enormous progress over the past four decades. Most of this period has been characterized by gradual improvements in the technical and public health aspects of prenatal screening for Down syndrome. Compared to the direct analysis of fetal cells from amniocentesis or chorionic villus sampling, noninvasive approaches using maternal blood or ultrasound have the great advantage of posing no risk of miscarriage to the pregnancy. Read More

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January 2019

Overview of Preimplantation Genetic Diagnosis (PGD): Historical Perspective and Future Direction.

Methods Mol Biol 2019 ;1885:23-43

Florida International University, Miami, FL, USA.

Preimplantation genetic diagnosis (PGD) can be considered the earliest form of prenatal testing. It was first used in humans over 26 years ago. At its inception, PGD could only be performed for a limited number of genetic disorders. Read More

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January 2019

Traditional Prenatal Diagnosis: Past to Present.

Methods Mol Biol 2019 ;1885:3-22

Department of Obstetrics and Gynecology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USA.

In the nearly 60 years since prenatal diagnosis for genetic disease was first offered, the field of prenatal diagnosis has progressed far past rudimentary uterine puncture to provide fetal material to assess gender and interpret risk. Concurrent with the improvements in invasive fetal sampling came technological advances in cytogenetics and molecular biology that widened both the scope of genetic disorders that could be diagnosed and also the resolution at which the human genome could be interrogated. Nowadays, routine blood work available to all pregnant women can determine the risk for common chromosome abnormalities; chorionic villus sampling (CVS) and amniocentesis can be used to diagnose nearly all conditions with a known genetic cause; and the genome and/or exome of a fetus with multiple anomalies can be sequenced in an attempt to determine the underlying etiology. Read More

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January 2019

Fetal Body Imaging: When is MRI Indicated?

Authors:
Marie Cassart

J Belg Soc Radiol 2017 Nov 18;101(Suppl 1). Epub 2017 Nov 18.

Hôpitaux Iris et Iris Sud, BE.

Recent improvements in fetal therapies and perinatal care and the multidisciplinary involvement in fetal medicine have increased the demand for more accurate prenatal diagnosis. Fetal Magnetic Resonance Imaging (MRI) is a complementary imaging technique for the assessment of thoraco-abdominal anomalies for which Ultrasonography (US) is not conclusive. It is indicated in selected situations to precise the prognosis in diaphragmatic hernia, to characterise the nature and extension of a pulmonary malformation, to locate a bowel atresia or to better depict an abdominal cystic lesion or tumoural extension. Read More

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November 2017
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Activity Tracking Devices in Group Prenatal Care: A Feasibility Study.

Biores Open Access 2018 28;7(1):165-176. Epub 2018 Nov 28.

Department of Obstetrics and Gynecology, Northwestern University, Chicago, Illinois.

To evaluate the feasibility (adherence to the study protocol and satisfaction) of using an activity tracking device (ATD) in group prenatal care. Women participated if they (1) were in group prenatal care, (2) owned a smartphone, and (3) had no activity restrictions. Women were instructed to wear and sync the ATD daily. Read More

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November 2018

Reference values of nuchal fold thickness in an Iranian population sample.

J Res Med Sci 2018 26;23:94. Epub 2018 Oct 26.

Emam Hossein Children's Hospital, Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.

Background: Considering that ethnicity and gestational age (GA) could affect the value of nuchal fold thickness (NFT) in mid-trimester, we aimed to determine the reference intervals of NFT values for each gestational week from 16 to 24 weeks of pregnancy among a group of Iranian pregnant women.

Materials And Methods: In this cross-sectional study, medical files of pregnant women who underwent fetal anomaly scanning at 16-24 weeks of gestation were reviewed and the following data were extracted: GA, value of NFT, value of nuchal translucency (NT) in their previous ultrasound study, if available, and head circumference (HC). The 5, 25, 50, 75, and 95 percentiles of NFT for each gestational week were determined. Read More

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October 2018

Placental MAOA expression mediates prenatal stress effects on temperament in 12-month-olds.

Infant Child Dev 2018 Jul-Aug;27(4). Epub 2018 Apr 16.

Clinical Psychology Program, The Graduate Center (CUNY), New York, New York, USA.

The placenta adapts to maternal environment and its alterations may have a lasting impact on child's temperament development. Prenatal stress has been linked to both a downregulation of monoamine oxidase A (MAOA) gene expression in the placenta and to difficult temperament. Capitalizing on an ongoing longitudinal study, we analysed data from 95 mother-child dyads to investigate whether MAOA mediates the association between prenatal stress and infant temperament. Read More

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