The utility of whole exome sequencing in prenatal diagnosis
Validation of non-invasive prenatal diagnosis (NIPD) of multiple single gene disorders for clinical implementation
Non-invasive prenatal diagnosis (NIPD) for cystic fibrosis – beyond paternal mutation exclusion
Haplotype-assisted noninvasive prenatal diagnosis of common monogenic diseases using massively parallel sequencing of plasma cell-free DNA
Expansion of assessment methods to measure effects of fetal spina bifida induction and repair in the fetal lamb
Connexin 43 is overexpressed in human fetal membrane defects after fetoscopic surgery
BOOSTB4 – A clinical study on pre- and/or postnatal stem cells transplantation for treatment of osteogenesis imperfecta
External quality assessment of testing cell free DNA for fetal sex determination
Realization of the Belgian Prenatal Microarray (BEMAPRE) database and update of the Belgian reporting approach
Maternal cell contamination may significantly confound the interpretation of prenatal NGS testing
Chromosomal microarray analysis in fetuses with aberrant right subclavian artery
Early sonographic evaluation of facial integrity in dystrophic fetuses via 3D-ultrasound
Antral follicle size as a first trimester predictor of fetal trisomy
International Variability in 47,XXY (Klinefelter Syndrome) Phenotype
A large prospective study of the neurodevelopmental outcome in prenatally diagnosed males with 47, XXY
Randomized controlled trial comparing preimplantation genetic screening utilizing next generation sequencing to standard morphologic assessment for embryo selection and single embryo transfer after vitrification
Clinical experience with multigene carrier panels
Aneuploidy screening in polarbodies is superior to trophectoderm analysis as it detects the meiotic errors and circumvents decision making of mosaic embryo results
The timing of reproductive genetic counseling is the most important factor influencing acceptance of expanded carrier screening
Confined placental mosaicism: Re-evaluation of pregnancy characteristics and influence on fetal growth
The development of a placental murine xenograft model
Increased risk for pregnancy loss, true fetal mosaicism and uniparental disomy associated with rare autosomal aneuploidies identified during non-invasive prenatal testing
Incremetal yield of genomic microarray in early growth restricted fetuses over karyotyping
Discordant hypoxic condition and oxidative stress in placental shares of monochorionic twins with selective intra-uterine growth restriction
Clinical implementation of NIPT: Understanding the role of non-specialist provider education
Ensuring high quality NIPD and NIPT for the patient
Odds of being affected given a positive result (OAPR) in cell-free DNA screening for fetal autosomal and sex chromosome aneuploidy: Data from four cytogenetic laboratories
Fetal aneuploidy screening results in maternal plasma samples redrawn due to insufficient fetal cfDNA in the initial sample
Decisional regret in women receiving high-risk or inconclusive results from non-invasive prenatal genetic screening
Plasma DNA tissue mapping to pinpoint site of occult maternal malignancy identified by NIPT
Correlation between fetal autopsy and prenatal diagnosis: a systematic review of literature
Head circumference of fetuses with congenital heart disease decreases in the second half of pregnancy
Fetal neuronal migration disorder between 15 and 26 weeks of gestation
Diagnostic accuracy of congenital heart defects after referral from routine ultrasound screening
From fetal dysmorphology to exome sequencing: The diagnostic performance for making a perinatal genetic diagnosis
The effect of a decision aid on informed decision making in the era of non-invasive prenatal testing: A randomized controlled trial
An integrated human/murine transcriptome and pathway approach to identify prenatal treatments for Down syndrome
Amniotic fluid transcriptomic changes in fetuses with myelomeningocele
A bespoke non-invasive prenatal diagnostic (NIPD) Service for paternal Mutation and de novo Recurrence Exclusion
Genomes and pregnancy, the gap study: Providing choice of fetal genomic results to women having prenatal diagnosis
BACs-on-beads as a diagnostic platform for the rapid aneuploidy and microdeletion/microduplication detection in amniocytes: experience of a prenatal diagnosis center
Prenatal diagnosis of 22q11.2 microduplication syndrome: report of three cases
Correlation between biochemical anti-angiogenic marker and Doppler study of fetal vessels in preeclampsia with or without IUGR
A national survey of intrauterine blood transfusion (IUT) in Japan
Clinical implementation of NIPS by an onshore laboratory in Sydney Australia – new experiences in the future of first trimester prenatal management
Aberrant right subclavian artery: correlation between fetal and neonatal abnormalities
How many carriers are you missing?: the value of expanded carrier screening
Test sequentially or test concurrently? An analysis of clinical approaches to expanded carrier screening
The usefulness of interphase fluorescence in situ hybridization (iFISH) for prenatal diagnosis
Prenatal cell free (cf)DNA screening in low risk pregnancies through primary providers: a demonstration project
Prenatal diagnosis of congenital heart disease by ultrasound and chromosomal microarray analysis
Prenatal diagnosis of interstitial deletion 11q associated with abnormal ultrasound findings
Russell–Silver syndrome: prenatal and placental findings
Maternal uniparental disomy for chromosome 6 in a patient with IUGR, ambiguous genitalia, and persistent Mullerian structures
Neu Laxova syndrome caused by a mutation in PHGDH in a Pakistani family
The information and psychosocial support provided during decision-making by pregnant women who are incidentally diagnosed with fetal abnormalities in Japan – an online survey
Genome-wide non-invasive prenatal test can detect chronic myeloid leukemia caused by translocation t(9;22)(q34;q11.2) with deletions at the translocation breakpoints
Maternal incidental findings during non-invasive prenatal testing for fetal aneuploidies
Side-by-side comparison of the NIFTY test and IONA test for non-invasive prenatal testing (NIPT) with on-going follow up of outcomes
Gene identification in fetal malformation phenotypes
Chromosomal microarray analysis on fetuses with ultrasound anomalies
Expanding noninvasive prenatal testing (NIPT) for screening of unbalanced translocations
Frequencies of total uniparental isodisomy and triploidy in a series of oligo-SNP array analyses of products of conception (POC) and amniocytes
The impact of maternal factors on the measurement of first trimester maternal serum placental growth factor and α -fetoprotein
Abnormal ultrasound and increased yield of abnormal results with genome-wide cfDNA analysis
Early amniocentesis for diagnosis of trisomy 18 in the setting of lower urinary tract obstruction and abnormal non-invasive prenatal screening
Identification of Greenberg skeletal dysplasia in a fetus with hydrops and severe micromelia
Trisomy 9 mosaicism in monochorionic twins manifesting with discordant phenotypes
Assessment of a rapid aneuploidy diagnosis by the BACs-on-beads assay during late pregnancy
Non-invasive prenatal testing in a mixed-risk population using massively parallel sequencing
The impact of frozen storage on the measurement of first trimester maternal serum markers for Down syndrome screening
Enquiring clients' values as part of counseling for prenatal anomaly screening: an exploratory video-observational study
Association studies of vasoactive genes and preeclampsia in Taiwan
A case report: Prenatal diagnosis in a fetus with α -thalassemia and complete trisomy 9
Prenatal diagnosis of thalassemia: sixteen-year experience at a mainland Chinese hospital
MicroRNA profiling in acute chorioamnionitis using archival placental tissue
Contribution of NIPT in case of ultrasonic malformations
Self-perception of people with Down syndrome in Japan: results from a nationwide survey
Introduction of non-invasive prenatal testing (NIPT) as a first-tier screening test: a survey among Dutch midwife-counselors
Developing standard maternal and fetal adverse event severity grading criteria: building the framework obstetric trials, including fetal therapies
A rare case of fetal Noonan-like syndrome caused by de novo splicing mutation within the CBL gene
Genome wide detection of chromosomal gains and losses greater than 7Mb by cfDNA analysis
Clinical follow-up study of PraenaTest®-preliminary results of a german multicenter post market clinical follow-up study
Case report: Prenatal diagnosed rare trisomy 16 mosaicism
Prenatal clinical and molecular (epi-) genetic diagnosis of Beckwith–Wiedemann syndrome: time to shift gears?
Responsible implementation of expanded carrier screening: recommendations of the European Society of Human Genetics
Radiographic pelvimetry: evaluation of radiation dose and image quality
Non-invasive prenatal test reveals fetus with 5q35.1q35.3 deletion and 10p15.3p13 duplication derived from father's balance translocation 46,XY,t(5;10)(q35.1;p13)
Two incidental findings on recurrent miscarriage using SNP array: Dystrophin gene deletion in products of conception and de novo microduplication including RPS6KA3 in CVS
A new software application for recording data pertaining to invasive prenatal testing for a nationwide registry in Japan
Outcome of monosomy X pregnancies according to the parental origin of the X chromosome
Evaluation of carotid artery intima media thickness(CIMT) and SCUBE1 concentration in patients having recurrent pregnancy loss
Noninvasive prenatal screening for sex chromosome aneuploidy: clinical experience in a genetics referral center
Presacral echogenic mass during mid-trimester scanning: is it benign
Relationship between polycystic ovarian syndrome and subsequent abortion: a nationwide population-based study
The role of preterm placental calcification on assessing risks of stillbirth
Non-invasive prenatal testing by digital counting of fluorescently labeled DNA molecules
Routine use of chromosomal microarray as standard first-tier approach in high risk pregnancies
Taking NIPT to the next level: detection of fetal trisomy 21 based on quantitative real-time PCR
Validation of a novel array CGH-based non-invasive prenatal test for trisomy 21
Comparing fetal fractions after centrifugation or microfluidic extraction of maternal blood plasma
Recent bioinformatics advances of non-invasive prenatal testing (NIPT) to enhance detection of 22q11.2 deletion syndrome
Psychological and ethical issues in prenatal diagnosis
Counseling using posttest risks following non-invasive prenatal screening; the need for caution
Cardiac axis as a first trimester marker of fetal aneuploidy and cardiac defects
Performance evaluation of NIPT in detection of chromosomal copy number variants using low-coverage whole-genome sequencing of plasma DNA
Structural chromosome abnormalities play a role in the etiology of miscarriages
Prenatal diagnosis of sonographic abnormalities using rapid whole exome sequencing
Trends in Down's syndrome live births and prenatal diagnoses in Latvia
Incidence of placental chromosomal mosaicism in miscarriages
Prenatal whole genome SNP array diagnosis: relevance of incidental findings in pregnancies with and without ultrasound anomalies
Low incidence of abnormal cell free fetal DNA screening in the presence of isolated sonographic soft markers for fetal aneuploidy: one center's experience
Toward an ethical framework for prenatal whole exome sequencing
Long term outcomes of congential heart disease: a systematic review of literature
Updated experience with cell free fetal DNA testing in Argentina
Prenatal diagnosis of microdeletion and microduplication in fetal growth restriction
Analysis of four cases of unexpected NIPT results: false positive, false-negative and non-reportable cases
Maternal plasma and placenta microRNAs expression profiling of preeclamptic pregnancies by microarray technology
Prenatal diagnosis of chromosome abnormalities: a 5-year institution experience
Features detection of children with congenital malformations and chromosomal abnormalities in the Republic of Kazakhstan, Astana City
Genetic study of a fetus with 9p direct duplication deletion syndrom
Application of single nucleotide polymorphism-based arrays analysis in prenatal diagnosis of fetus with de novo derivative chromosome
Clinic analysis of 63 cases of amniotic fluid mosaicism
Clinical value of fetal increased nuchal fold in screening fetal chromosomal abnormalities during the second trimester
Correlation of chromosomal abnormalities with abnormal amniotic fluid volume
Genetic analysis of 109 patients with primary amenorrhea
Karyotype analysis and single nucleotide polymorphism-based arrays analysis of fetuses with increased nuchal translucency
Karyotype analysis of 96 children with growth retardation
Karyotype analysis of 150 males with azoospermia
Karyotyping for 85 children with hypospadias
Prenatal diagnosis of a 1p36.3 microdeletion in a fetus with heart defects
Single nucleotide polymorphism-based arrays analysis of fetuses with fetal growth restriction
Whole genome evaluation of all 24 chromosomes explains unusual NIPT results and suggests additional risks
Bed to bed management of gastroschisis: predictors of prognosis
Crown-rump length audit plots with the use of operator-specific PAPP-A and ß -HCG median MoM
Patents and their influence on the development of non-invasive prenatal testing
Classification and reproductive relevance of unidentified genetic risk factors in prenatal care
Study of concentration of amniotic fluid alpha-fetal protein in thalassemia fetus
Prenatally genetic analysis on two fetuses with Miller–Dieker syndrome
Improved assay performance of SNP array over conventional karyotyping in analyzing products of conception
10q26 deletion syndrome: two new cases and a review of the literature
Improved identification for 5p deletion syndrome and partial trisomy 11q presented in a fetus by SNP array
Application of SNP array in the accurate identification of Angelman syndrome (Type 1)
Unexpected diagnosis of systemic primary carnitine deficiency in a child: An implication from a large region of homozygosity
Association of maternal plasma fetal DNA fraction with pregancy-hypertension and pre-eclampsia in Chinese population
Prenatal SNP array in fetuses with isolated orofacial clefts
Cost effectiveness of non-invasive prenatal screening (NIPS) as a first trimester screening tool for trisomy 21
Posterior fossa markers in first trimester chromosomally abnormal fetuses
New insight in the interpretation of microduplication of KAL1 gene
Abnormal SNP microarray in cases with first trimester ultrasound abnormalities
Development of a novel targeted assay for non-invasive prenatal testing of fetal trisomies exhibits near-diagnostic accuracy
Development of bead-based suspension array technology for the diagnosis of hereditary hearing loss
First trimester QUAD screening for prenatal aneuploidy and preeclampsia risk assessment
First experiences: Preimplantation Genetic Diagnosis (PGD) Center, MGZ Munich
Fetal cardiac interventions: report of 10-year experience in a specialized tertiary centre
Comparison of two test systems for sFlt-1 and PlGF – diagnostic accuracy for preeclampsia-related outcomes
Limitations and pitfalls of non-invasive cell-free fetal DNA aneuploidy testing in a clinical practice
Clinical validation of a non-invasive prenatal test for genome-wide detection of fetal chromosomal abnormalities
Implementation of a targeted enrichment method for the detection of microdeletion and microduplication syndromes for NIPT
Accuracy and reproducibility of fetal fraction measurement using quantitation at polymorphic loci with microarray
A novel NIPT approach based on the methylation differences between maternal and fetal DNA
Non-invasive prenatal testing for genome-wide detection of fetal copy number variants reveals aneuploidies in patients with repeated cell-free DNA testing failures
Clinical implementation of routine screening for fetal trisomies (21, 13, 18, and sex chromosomes) with cell-free DNA analysis in an intermediate risk group (1:700 to 1:301)
Survey of long survival cases of thanatophoric dysplasias
Fetal fraction reference material generation for non-invasive prenatal testing using highly characterized Ashkenazim mother and son cell lines
There is a different learning curve for open and fetoscopic spina bifida surgery – a systematic review and meta-analysis
Performance evaluation and clinical implementation of the NeoBona test, a new paired-end MPSS approach for cfDNA-based prenatal screening of common chromosome aneuploidies
Validation of a targeted, multiplex PCR-based NIPT in an international multi-centre study
Antenatal sonographic findings of extrahepatic vitelline vein aneurysm
Fetal reduction after multiple pregnancies: Implications and considerations for non invasive prenatal testing
Continuous amnioinfusion via a subcutaneously implanted port system with PPROM and anhydramnios <28 + 0 weeks of gestation: An international prospective randomized trial
Leveraging fragment size information from targeted analysis of cell free DNA for non-invasive prenatal detection of fetal aneuploidies
Altered cervical collagen concentration by dinoprostone during cervical ripening in postterm pregnancies, compared with oxytocin
Prenatal diagnosis of isolated fetal gallbladder duplication associated with chromosomal mutation (46,X,t(X;10(p11.2;Q24.3)
Prenatal diagnosis of a rare, autosomal recessive disorder by combining genome wide array analysis and whole exome sequencing
Analysis of the application of FISH combination with karyotyping in prenatal diagnosis
Clinical significance of 3D HDlive silhouette/flow in neurosonoembryology and fetal neurosonography
The host immune response to a mildly immunogenic extracellular matrix scaffold cannot be modulated by co-cultured mesenchymal stem cells derived from the amniotic fluid
Technical assessment of noninvasive prenatal diagnosis of monogenic diseases with droplet digital PCR
Is it unethical (not) to transfer an aneuploid embryo?
Microarray abnormalities in prenatally diagnosed omphaloceles
Two and a half years' experience of a newly established prenatal genetics clinic in Japan: What are the problems that we need to consider in the clinical practice of prenatal testing/diagnosis in Japan?
Beckwith–Wiedemann syndrome in prenatally diagnosed omphaloceles
Prenatal diagnosis of orofacial clefting necessitates a gestational age-based approach
Exploring the clinical value of whole genome screening in non invasive prenatal screening (NIPS)
SNP-based chromosomal microarrays identify microdeletion syndromes in miscarriage samples
Performance of a SNP-based NIPT in screening for five clinically significant microdeletions in a large clinical cohort
Biomimetic reference materials for NIPT assays
Noninvasive prenatal testing for trisomy 21, 18, 13 and sex chromosomal aneuploidies – first report on 1380 pregnancies from Iran
Noninvasive prenatal screening for common aneuploidies in a Canadian province: A cost-effectiveness analysis
Preimplantation genetic diagnosis by haplotype enabled allele identification on whole-genome-amplification product from single biopsy