26,209 results match your criteria prenatal genetic


An induced pluripotent stem cell line (GZHMCi004-A) derived from a fetus with heterozygous G380R mutation in FGFR3 gene causing achondroplasia.

Stem Cell Res 2021 Apr 5;53:102322. Epub 2021 Apr 5.

Department of Obstetrics and Gynecology, Department of Fetal Medicine and Prenatal Diagnosis, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, China. Electronic address:

Achondroplasia (ACH; MIM #100800) is an autosomal dominant genetic disease caused by gain-of-function mutations in FGFR3 gene and results in short-limb dwarfism. Here, we generated an induced pluripotent stem cell line GZHMCi004-A derived from umbilical cord blood mononuclear cells (UCBMCs) of a fetus with heterozygous G380R mutation in FGFR3 gene. This iPSC line is a valuable in vitro model to study the pathological mechanism and the treatment of ACH. Read More

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Prenatal chromosome microarray: 'The UK experience'. A survey of reporting practices in UK genetic services (2012-2019).

Prenat Diagn 2021 Apr 2. Epub 2021 Apr 2.

West of Scotland Centre for Genomic Medicine, Laboratory Medicine Building, QEUH, Glasgow, UK.

Background: The value of chromosome microarray (CMA) in the prenatal detection of significant chromosome anomalies is well-established. To guide the introduction of this technique in routine clinical practice, the Joint Committee on Genomics in Medicine developed national UK guidelines for reporting prenatal CMA in 2015.

Objective: To evaluate the UK experience of utilising prenatal CMA. Read More

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Fetal hydrops and the Incremental yield of Next generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis.

Ultrasound Obstet Gynecol 2021 Apr 13. Epub 2021 Apr 13.

Institute of Metabolism and Systems Research, College of Medical & Dental Sciences, University of Birmingham, Edgbaston, Birmingham, UK.

Objectives: Determine the incremental yield of next generation sequencing (predominantly exome sequencing (ES)) over quantitative fluorescence-polymerase chain reaction (QF-PCR) and chromosome microarray analysis (CMA)/karyotyping in; (i) all cases of prenatally diagnosed non-immune hydrops fetalis (NIHF); (ii) isolated NIHF; (iii) NIHF associated with additional structural anomalies and; (iv) NIHF according to severity (i.e., two cavities versus three or more cavities affected). Read More

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Prenatal markers of atypical neurodevelopment in children with congenital heart defects.

J Matern Fetal Neonatal Med 2021 Apr 13:1-5. Epub 2021 Apr 13.

Department of Obstetrics and Gynecology, CHU Sainte-Justine, Université de Montréal, Montreal, Canada.

Background: A growing body of literature demonstrates that survivors of congenital heart defects (CHD) are at increased risk of neurodevelopmental delay, which frequently manifests as motor delay during the first year of life.

Objective: The aim of this study was to determine prenatal predictors of an early atypical neurodevelopment. This information could help assist decision-making during prenatal counseling. Read More

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DNA methylation in cord blood in association with prenatal depressive symptoms.

Clin Epigenetics 2021 Apr 12;13(1):78. Epub 2021 Apr 12.

Department of Women's and Children's Health, Uppsala University, Uppsala, Sweden.

Background: Prenatal symptoms of depression (PND) and anxiety affect up to every third pregnancy. Children of mothers with mental health problems are at higher risk of developmental problems, possibly through epigenetic mechanisms together with other factors such as genetic and environmental. We investigated DNA methylation in cord blood in relation to PND, taking into consideration a history of depression, co-morbidity with anxiety and selective serotonin reuptake inhibitors (SSRI) use, and stratified by sex of the child. Read More

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Neural representations of kinship.

Curr Opin Neurobiol 2021 Apr 9;68:116-123. Epub 2021 Apr 9.

Humboldt University of Berlin, Bernstein Center for Computational Neuroscience, United Kingdom.

While the fundamental relevance of kinship behavior for evolutionary and behavioral biology has long been recognized, the examination of kinship behavior from a neuroscience perspective is still in its infancy. Kinship is highly conserved from single-celled organisms to humans, where kin preferences are prevalent in behavior and vocal communication. Kin recognition mechanisms are varied, with evidence for both genetic and both prenatal as well as postnatal learning-based kin recognition. Read More

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Mosaicism for copy number variations in the placenta is even more difficult to interpret than mosaicism for whole chromosome aneuploidy.

Prenat Diagn 2021 Apr 11. Epub 2021 Apr 11.

Department of Clinical Genetics, Aarhus University Hospital, 8200, Aarhus N, Denmark.

Objective: To compare mosaicisms in prenatal chorionic villus samples with corresponding postpartum placental samples.

Method: We collected placentas from 15 consecutive cases of mosaicism detected in chorionic villus samples and obtained five standardized samples on each placenta after delivery. All pre- and postnatal placental samples were uncultured and analyzed by high-resolution chromosomal microarray. Read More

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Obesity and no call results: optimal timing of cell-free DNA testing and redraw.

Am J Obstet Gynecol 2021 Apr 8. Epub 2021 Apr 8.

Department of Obstetrics and Gynecology, University of Pennsylvania Perelman School of Medicine, Divisions of Reproductive Genetics and Maternal Fetal Medicine, Philadelphia, PA.

Background: Fetal fraction of cell free DNA decreases with increasing maternal weight. Consequently, cell-free DNA screening for fetal aneuploidy has higher screen failures or "no call" rates in women with obesity due to a low fetal fraction. The optimal timing of testing based on maternal weight is unknown. Read More

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Depletion of aneuploid cells in human embryos and gastruloids.

Nat Cell Biol 2021 Apr 9;23(4):314-321. Epub 2021 Apr 9.

Laboratory of Stem Cell Biology and Molecular Embryology, The Rockefeller University, New York, NY, USA.

Chromosomal instability leading to aneuploidy is pervasive in early human embryos and is considered as a major cause of infertility and pregnancy wastage. Here we provide several lines of evidence that blastocysts containing aneuploid cells are worthy of in vitro fertilization transfer. First, we show clinically that aneuploid embryos can lead to healthy births, suggesting the presence of an in vivo mechanism to eliminate aneuploidy. Read More

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Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations.

Eur J Hum Genet 2021 Apr 9. Epub 2021 Apr 9.

Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

Genetic alterations in COL4A2 are less common than those of COL4A1 and their fetal phenotype has not been described to date. We describe a three-generation family with an intragenic deletion in COL4A2 associated with a prenatal diagnosis of recurrent fetal intracerebral hemorrhage (ICH), and a myriad of cerebrovascular manifestations. Exome sequencing, co-segregation analysis, and imaging studies were conducted on eight family members including two fetuses with antenatal ICH. Read More

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Clinical Application of Chromosomal Microarray Analysis in Pregnant Women with Advanced Maternal Age and Fetuses with Ultrasonographic Soft Markers.

Med Sci Monit 2021 Apr 10;27:e929074. Epub 2021 Apr 10.

Center of Reproductive Medicine and Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, Jilin, China (mainland).

BACKGROUND In pregnant women with advanced maternal age (AMA) and fetuses with ultrasonographic (USG) soft markers it is always challenging to decide whether to implement chromosomal microarray analysis (CMA) or not. It is unclear whether CMA should be used in the fetuses with isolated USG soft markers, and there is still a lack of extensive sample research. MATERIAL AND METHODS We enrolled 1521 cases in our research and divided them into 3 groups as follows: pregnant women with isolated AMA (group 1, n=633), pregnant women whose fetuses had isolated USG soft markers (group 2, n=750), and pregnant women with AMA whose fetuses had isolated USG soft markers (group 3, n=138). Read More

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PIEZO1 mutation: a rare aetiology for fetal ascites.

BMJ Case Rep 2021 Apr 9;14(4). Epub 2021 Apr 9.

Maternal fetal Medicine, Trinity Health of New England, Hartford, Connecticut, USA.

We present a case of isolated fetal ascites diagnosed at 20 weeks' gestation. No aetiology was identified on extensive prenatal workup, including prenatal microarray. The patient terminated the pregnancy at 23 weeks' gestation. Read More

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The effects of maternal SSRI exposure on the serotonin system, prefrontal protein expression and behavioral development in male and female offspring rats.

Neurochem Int 2021 Apr 6:105041. Epub 2021 Apr 6.

School of Rehabilitation, Kunming Medical University, Kunming, China. Electronic address:

Fluoxetine (FLX), a commonly used selective serotonin reuptake inhibitor, is often used to treat depression during pregnancy. However, prenatal exposure to FLX has been associated with a series of neuropsychiatric illnesses. The use of a rodent model can provide a clear indication as to whether prenatal exposure to SSRIs, independent of maternal psychiatric disorders or genetic syndromes, can cause long-term behavioral abnormalities in offspring. Read More

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[Genetic analysis of a case with Pierre-Robin sequence due to partial 1q trisomy and partial 4q monosomy].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Apr;38(4):369-372

Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.

Objective: To explore the genetic basis for a neonate with Pierre-Robin sequence.

Methods: The child was subjected to chromosomal karyotyping, single nucleotide polymorphism array (SNP-array)-based comparative genomic hybridization and fluorescence in situ hybridization (FISH) analysis.

Results: The child has featured microgthnia, glossoptosis, upper airway obstruction, mandible dehiscence and short neck. Read More

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[Analysis of a case with heterozygous 14q12 deletion and FOXG1 gene-related disease].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Apr;38(4):366-368

Center of Genetics and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.

Objective: To describe the clinical and genetic characteristics of a child with 14q12q13.1 deletion involving the FOXG1 gene.

Methods: Clinical manifestation of the child was analyzed. Read More

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[Analysis of FMR1 gene CGG repeats among patients with diminished ovarian reserve].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Apr;38(4):343-346

Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, Hunan 410078, China.

Objective: To explore the correlation between Fragile X mental retardation gene-1 (FMR1) gene CGG repeats with diminished ovarian reserve (DOR).

Methods: For 214 females diagnosed with DOR, DNA was extracted from peripheral blood samples. FMR1 gene CGG repeats were determined by PCR and capillary electrophoresis. Read More

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[Impact of confined placental mosaicism on non-invasive prenatal testing and pregnancy outcomes].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Apr;38(4):335-338

Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Child Health Cave Hospital, the Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian 350001, China.

Objective: To assess the impact of confined placental mosaicism (CPM) on non-invasive prenatal testing (NIPT) and pregnancy outcomes.

Methods: Copy number variation sequencing (CNV-seq) and single nucleotide polymorphism array (SNP-array) were carried out on placental specimen sampled from eight pregnancies with confirmed false-positive NIPT results. The impact of CPM on NIPT and pregnancy outcomes were analyzed based on the laboratory tests and clinical characteristics. Read More

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[Non-invasive prenatal detection of ocutaneous albinism type I based on cfDNA barcode-enabled single-molecule test].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Apr;38(4):317-320

Center of Genetic and Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450002, China.

Objective: To assess the value of non-invasive prenatal testing based on cfDNA barcode-enabled single-molecule test (cfBEST) for the prenatal diagnosis of oculocutaneous albinism type I in a family.

Methods: Prenatal genetic diagnosis was carried out by using the cfBEST-based method as well as invasive prenatal diagnosis through amniocentesis. The outcome of the pregnancy was followed up. Read More

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[Results of non-invasive prenatal testing for 2473 women with twin pregnancy].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Apr;38(4):313-316

Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.

Objective: To assess the value of non-invasive prenatal testing (NIPT) for the detection of fetal chromosomal aneuploidies in women with twin pregnancy.

Methods: A total of 2473 women with twin pregnancy underwent the NIPT test to assess the risk for fetal chromosomal aneuploidies from January 2016 to September 2019. Those with a high risk by NIPT were confirmed by amniocentesis or chorionic villus sampling. Read More

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Epigenetics: A Missing Link Between Early Life Stress and Depression.

Adv Exp Med Biol 2021 ;1305:117-128

Center of Molecular Biology & Pharmacogenetics, Department of Basic Sciences, Faculty of Medicine, Universidad de La Frontera, Temuco, Chile.

Exposure to early life stress (ELS) represents a major risk factor for the development of psychiatric disorders, including depression. The susceptibility associated with ELS may result from persistent changes in gene transcription, which can occur through epigenetic mechanisms, such as DNA methylation, histone modifications, and microRNA expression. Animal models and reports in humans described that negative stimuli can alter the neurodevelopment of an individual, affecting their behavior and cognitive development. Read More

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Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.

Klin Padiatr 2021 Apr 8. Epub 2021 Apr 8.

Institute of Biochemistry and Biotechnology, Pir Mehar Ali Shah Arid Agriculture University, Rawalpindi, Pakistan.

Background: Tay-Sachs disease (TSD) is a rare autosomalrecessive genetic disorder characterized by progressive destruction of nerve cells in the brain and spinal cord. It is caused by genetic variations in the HEXA gene leading to a deficiency of β hexosaminidase A (HEXA) isoenzyme activity. This study aimed to identify causative gene variants in 3 unrelated consanguineous families presented with TSD from Pakistan and Morocco. Read More

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How are uncertain prenatal genetic results perceived and managed 2 years after they were received? A qualitative interview study.

J Genet Couns 2021 Apr 8. Epub 2021 Apr 8.

Center for Fetal Diagnostics, Aarhus University Hospital, Aarhus, Denmark.

Chromosomal microarray has considerably improved our ability to identify or dismiss genetic conditions in the unborn child. However, this detailed analysis also reveals copy number variants (CNVs) of unknown or uncertain significance, in which the specific child's prognosis can be difficult to predict. Little is known about the longer-term impacts of receiving an uncertain prenatal CNV result. Read More

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The Changing Trends in Prenatal Diagnosis of Hemoglobinopathies in India: The Quest of a Single Center to Reduce the Burden of Disease over Three Decades.

Hemoglobin 2021 Apr 8:1-13. Epub 2021 Apr 8.

Department of Haematogenetics, Indian Council of Medical Research, National Institute of Immunohaematology, Mumbai, India.

The β-thalassemias and sickle cell disorders pose a considerable health burden in India. Of the more than 10,000 annual births of children with a severe hemoglobinopathy, only around 10.0% are managed optimally. Read More

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Interactions of genetic variants and prenatal stress in relation to the risk for recurrent respiratory infections in children.

Sci Rep 2021 Apr 7;11(1):7589. Epub 2021 Apr 7.

Department of Clinical Medicine, FinnBrain Birth Cohort Study, Turku Brain and Mind Center, University of Turku, Turku, Finland.

Genetic variants may predispose children to recurrent respiratory infections (RRIs) but studies on genotype-environment interaction are rare. We hypothesized that the risk for RRIs is elevated in children with innate immune gene variants, and that prenatal exposure to maternal psychological distress further increases the risk. In a birth cohort, children with RRIs (n = 96) were identified by the age of 24 months and compared with the remaining cohort children (n = 894). Read More

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Multicolor-FISH Characterization of a Prenatal Mosaicism for a Chromosomal Rearrangement Undetected by Molecular Cytogenetics.

Cytogenet Genome Res 2021 Apr 7:1-10. Epub 2021 Apr 7.

Service de Cytogénétique et Biologie Cellulaire, CHU Rennes, Rennes, France.

Fetal mosaicism for chromosomal rearrangements remains a challenge to diagnose, even in the era of whole-genome sequencing. We present here a case of fetal mosaicism for a chromosomal rearrangement explored in amniocytes and fetal muscle, consisting of a major cell population (95%) with partial monosomy 4q and a minor population (5%) with additional material replacing the 4qter deleted segment. Molecular techniques (MLPA, array-CGH) failed to assess the origin of this material. Read More

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MLPA analysis of 32 foetuses with a congenital heart defect and 1 foetus with renal defects - pilot study. The significant frequency rate of presented pathological CNV.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2021 Mar 31. Epub 2021 Mar 31.

Department of Medical Genetics, University Hospital Olomouc, Czech Republic.

Aims: The aim of this retrospective study was to determine the detection rate of the pathogenic copy number variants (CNVs) in a cohort of 33 foetuses - 32 with CHD (congenital heart defects) and 1 with kidney defect, after exclusion of common aneuploidies (trisomy 13, 18, 21, and monosomy X) by karyotyping, Multiplex ligation - dependent probe amplification (MLPA) and chromosomal microarray analysis (CMA). We also assess the effectivity of MLPA as a method of the first tier for quick and inexpensive detection of mutations, causing congenital malformations in foetuses.

Methods: MLPA with probe mixes P070, P036 - Telomere 3 and 5, P245 - microdeletions, P250 - DiGeorge syndrome, and P311 - CHD (Congenital heart defects) was performed in 33 samples of amniotic fluid and chorionic villi. Read More

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Long-term prenatal effects of antidepressant use on the risk of affective disorders in the offspring: a register-based cohort study.

Neuropsychopharmacology 2021 Apr 5. Epub 2021 Apr 5.

Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York City, NY, USA.

To investigate the association between intrauterine antidepressant exposure and offspring affective disorders over an 18-year follow-up period using Danish national registers. We included 42,988 singletons born during 1998-2011 and followed-up until 2016, death, emigration, or date of first affective disorder diagnosis. Children were categorised into two groups according to maternal antidepressant use within 2 years before and during pregnancy: continuation (use before and during pregnancy) or discontinuation (use before but not during pregnancy). Read More

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Mutations in phospholipase C eta-1 () are associated with holoprosencephaly.

J Med Genet 2021 Apr 5. Epub 2021 Apr 5.

Cambridge Institute for Medical Research Cambridge, University of Cambridge, Cambridge, Cambridgeshire, UK

Background: Holoprosencephaly is a spectrum of developmental disorder of the embryonic forebrain in which there is failed or incomplete separation of the prosencephalon into two cerebral hemispheres. To date, dominant mutations in sonic hedgehog (SHH) pathway genes are the predominant Mendelian causes, and have marked interfamilial and intrafamilial phenotypical variabilities.

Methods: We describe two families in which offspring had holoprosencephaly spectrum and homozygous predicted-deleterious variants in phospholipase C eta-1 (). Read More

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