Prenatal Diagnosis

Papers
(The median citation count of Prenatal Diagnosis is 2. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2020-04-01 to 2024-04-01.)
ArticleCitations
Preterm delivery, maternal death, and vertical transmission in a pregnant woman with COVID‐19 infection183
Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta‐analysis75
Mechanisms and evidence of vertical transmission of infections in pregnancy including SARS‐CoV‐2s47
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging47
Fetal alcohol spectrum disorders: Genetic and epigenetic mechanisms42
Short‐ and long‐term outcomes of gestational diabetes and its treatment on fetal development42
Uniparental disomy: Origin, frequency, and clinical significance39
Preimplantation genetic testing for aneuploidy: A review of published blastocyst reanalysis concordance data39
Fetal brain and placental programming in maternal obesity: A review of human and animal model studies39
International Society for Prenatal Diagnosis Position Statement: cell free (cf)DNA screening for Down syndrome in multiple pregnancies38
International Society for Prenatal Diagnosis Updated Position Statement on the use of genome‐wide sequencing for prenatal diagnosis37
Artificial placenta and womb technology: Past, current, and future challenges towards clinical translation35
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound35
Origins and mechanisms leading to aneuploidy in human eggs33
Current controversies in prenatal diagnosis: Expanded NIPT that includes conditions other than trisomies 13, 18, and 21 should be offered33
Perinatal exposure to maternal obesity: Lasting cardiometabolic impact on offspring31
Chromosomal mosaicism: Origins and clinical implications in preimplantation and prenatal diagnosis27
Outcome of fetal echogenic bowel: A systematic review and meta‐analysis26
Noninvasive prenatal testing as compared to chorionic villus sampling is more sensitive for the detection of confined placental mosaicism involving the cytotrophoblast26
Congenital syphilis: A contemporary update on an ancient disease26
Whole‐exome sequencing in the evaluation of fetal congenital anomalies of the kidney and urinary tract detected by ultrasonography24
Evaluation and classification of severity for 176 genes on an expanded carrier screening panel24
Prenatal ultrasound diagnosis of cleft palate without cleft lip, the new ultrasound semiology24
Overview and recent developments in cell‐based noninvasive prenatal testing23
Couples experiences of receiving uncertain results following prenatal microarray or exome sequencing: A mixed‐methods systematic review23
Noninvasive screening for congenital heart defects using a serum metabolomics approach23
Confirmation rate of cell free DNA screening for sex chromosomal abnormalities according to the method of confirmatory testing23
Non‐invasive prenatal testing in the management of twin pregnancies22
Is it time for routine prenatal serological screening for congenital cytomegalovirus?22
A review of fetal and neonatal consequences of maternal systemic lupus erythematosus21
Lessons learnt from prenatal exome sequencing21
Artificial intelligence, fetal echocardiography, and congenital heart disease20
Monochorionic diamniotic twins: What do I tell the prospective parents?20
Non‐invasive prenatal testing suggesting a maternal malignancy: What do we tell the prospective parents in Belgium?20
Exome sequencing improves genetic diagnosis of fetal increased nuchal translucency19
Prenatal assessment of congenital diaphragmatic hernia at north american fetal therapy network centers: A continued plea for standardization19
Health practitioners' perceptions of the barriers and enablers to the implementation of reproductive genetic carrier screening: A systematic review19
Should vanishing twin pregnancies be systematically excluded from cell‐free fetal DNA testing?19
Identification and management of congenital parvovirus B19 infection19
Diagnostic testing after positive results on cell free DNA screening: CVS or Amnio?18
The potential of expanded noninvasive prenatal screening for detection of microdeletion and microduplication syndromes18
Copy number analysis of meiotic and postzygotic mitotic aneuploidies in trophectoderm cells biopsied at the blastocyst stage and arrested embryos18
Position statement from the International Society for Prenatal Diagnosis on the use of non‐invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies18
Cell‐free DNA analysis of maternal blood in prenatal screening for chromosomal microdeletions and microduplications: a systematic review18
Vertical transmission of SARS‐CoV2 during pregnancy: A high‐risk cohort18
SARS‐CoV‐2 in the context of past coronaviruses epidemics: Consideration for prenatal care18
The early pattern of human corpus callosum development: A transvaginal 3D neurosonographic study18
Selective fetal reduction in complicated monochorionic twin pregnancies: A comparison of techniques18
Nonimmune hydrops fetalis: Genetic analysis and clinical outcome17
Development of standard definitions and grading for Maternal and Fetal Adverse Event Terminology17
Fetal brain, head, and neck tumors: Prenatal imaging and management17
Socioeconomic barriers to prenatal diagnosis of critical congenital heart disease17
Adverse perinatal outcome and placental abnormalities in pregnancies with major fetal congenital heart defects: A retrospective case‐control study17
Trio exome sequencing is highly relevant in prenatal diagnostics17
Exploring a new paradigm for the fetal anomaly ultrasound scan: Artificial intelligence in real time17
Omphalocele—What should we tell the prospective parents?17
‘We did everything we could’– a qualitative study exploring the acceptability of maternal‐fetal surgery for spina bifida to parents16
A systematic review of maternal TORCH serology as a screen for suspected fetal infection16
Cell‐free fetal DNA coming in all sizes and shapes15
Ultrasound features of fetal toxoplasmosis: A contemporary multicenter survey in 88 fetuses15
Congenital toxoplasmosis: What is the evidence for chemoprophylaxis to prevent fetal infection?15
Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy15
IVF embryo choices and pregnancy outcomes15
Pregestational diabetes in pregnancy: Complications, management, surveillance, and mechanisms of disease—A review15
Fetal central nervous system anomalies: When should we offer exome sequencing?15
Genetic tests aid in counseling of fetuses with cerebellar vermis defects15
Association between low fetal fraction in cell‐free DNA testing and adverse pregnancy outcome: A systematic review15
Prenatal diagnosis of birth defects and termination of pregnancy in Hunan Province, China14
Discordant fetal sex on NIPT and ultrasound14
Genetic diagnosis and clinical evaluation of severe fetal akinesia syndrome14
Non‐invasive prenatal test uptake in socioeconomically disadvantaged neighborhoods14
A novel method for noninvasive diagnosis of monogenic diseases from circulating fetal cells14
Predictive accuracy of prenatal ultrasound findings for lower urinary tract obstruction: A systematic review and Bayesian meta‐analysis13
Neurodevelopmental impairment at 3 years of age after fetoscopic laser surgery for twin‐to‐twin transfusion syndrome13
Evaluation of the Z‐score accuracy of noninvasive prenatal testing for fetal trisomies 13, 18 and 21 at a single center13
Aneuploidy in first trimester chorionic villi and spontaneous abortions: Windows into the origin and fate of aneuploidy through embryonic and fetal development13
Reproductive male partner testing when the female is identified to be a genetic disease carrier13
The role of sonographic phenotyping in delivering an efficient noninvasive prenatal diagnosis service for FGFR3‐related skeletal dysplasias13
Does non‐invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population‐based register study13
Fetoscopic myelomeningocoele closure: Is the scientific evidence enough to challenge the gold standard for prenatal surgery?13
Fetal spina bifida: What we tell the parents13
SARS‐CoV2 (COVID‐19) infection: is fetal surgery in times of national disasters reasonable?13
Maternal age in the epidemiology of common autosomal trisomies13
Diagnostic yield of genome sequencing for prenatal diagnosis of fetal structural anomalies12
Applications of noninvasive prenatal testing in vanishing twin syndrome pregnancies after treatment of assisted reproductive technology in a single center12
Most noninvasive prenatal screens failing due to inadequate fetal cell free DNA are negative for trisomy when repeated12
Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys12
Incidence and patterns of abnormal corpus callosum in fetuses with isolated spina bifida aperta12
Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: An international cross‐sectional study with healthcare professionals12
Mid‐gestational fetal placental blood flow is diminished in the fetus with congenital heart disease12
Prenatal hydronephrosis: Bridging pre‐ and postnatal management12
Current controversies in prenatal diagnosis 2: The 59 genes ACMG recommends reporting as secondary findings when sequencing postnatally should be reported when detected on fetal (and parental) sequenc12
Low fetal fraction in cell‐free DNA testing is associated with adverse pregnancy outcome: Analysis of a subcohort of the TRIDENT‐2 study12
Telehealth to provide prenatal genetics services: Feasibility and importance revealed during global pandemic12
Impact of mosaicism ratio on positive predictive value of cfDNA screening12
Fetal therapies for cytomegalovirus: What we tell prospective parents11
Fetal mitochondrial DNA in maternal plasma in surrogate pregnancies: Detection and topology11
The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencing11
What should we tell parents? Congenital diaphragmatic hernia11
Noninvasive prenatal sequencing for multiple Mendelian monogenic disorders among fetuses with skeletal dysplasia or increased nuchal translucency11
The TOTAL trial dilemma: A survey among professionals on equipoise regarding fetal therapy for severe congenital diaphragmatic hernia11
Prenatally diagnosed omphaloceles: Report of 92 cases and association with Beckwith‐Wiedemann syndrome11
HIV Infection in Pregnant Women: A 2020 Update11
Motion corrected fetal body magnetic resonance imaging provides reliable 3D lung volumes in normal and abnormal fetuses11
Prenatal evaluation and postnatal outcomes of fetal ovarian cysts10
How should fetal surgery for congenital diaphragmatic hernia be implemented in the post‐TOTAL trial era: A discussion10
Noninvasive prenatal diagnosis for Duchenne muscular dystrophy based on the direct haplotype phasing10
Fetal teratomas – A retrospective observational single‐center study10
High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses10
Prenatal cerebellar growth is altered in congenital diaphragmatic hernia on ultrasound10
Prenatal exome sequencing in fetuses with callosal anomalies10
Neonatal management of prenatally suspected coarctation of the aorta10
Microarray analysis in fetuses with duodenal obstruction: It is not just trisomy 2110
Increased nuchal translucency after low‐risk noninvasive prenatal testing: What should we tell prospective parents?10
Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects10
Is laterality of congenital diaphragmatic hernia a reliable prognostic factor? French national cohort study10
Nonreportable rates and cell‐free DNA profiles in noninvasive prenatal testing among women with heparin treatment10
Preclinical stem cell therapy in fetuses with myelomeningocele: A systematic review and meta‐analysis10
The fetal sequencing consortium: The value of multidisciplinary dialog and collaboration10
Preference for secondary findings in prenatal and pediatric exome sequencing10
Evaluating the efficacy of three carrier screening workflows designed to identify at‐risk carrier couples10
The fragmentation patterns of maternal plasma cell‐free DNA and its applications in non‐invasive prenatal testing10
Pregnancy outcomes associated with chorioamnion membrane separation severity following fetoscopic laser surgery for twin‐twin transfusion syndrome9
A framework for reporting secondary and incidental findings in prenatal sequencing: When and for whom?9
Making the most of the first prenatal visit: The challenge of expanding prenatal genetic testing options and limited clinical encounter time9
Discussing non‐invasive prenatal testing on Reddit: The benefits, the concerns, and the comradery9
Underlying genetic etiologies of congenital diaphragmatic hernia9
Recognizing the unique prenatal phenotype of Prader‐Willi Syndrome (PWS) indicates the need for a diagnostic methylation test9
Evaluation of cardiac function in the recipient twin in successfully treated twin‐to‐twin transfusion syndrome using a novel fetal speckle‐tracking analysis9
Cell‐based non‐invasive prenatal diagnosis in a pregnancy at risk of cystic fibrosis9
Incidence of childhood hearing loss after in utero exposure to platinum agents9
Antenatal management of congenital diaphragmatic hernia: What's next ?9
Dimensionless squared jerk: An objective differential to assess experienced and novice probe movement in obstetric ultrasound9
Maternal and neonatal outcomes in pregnancies conceived after preimplantation genetic testing9
Ethical issues associated with prenatal screening using non‐invasive prenatal testing for sex chromosome aneuploidy9
Micro‐computed tomography of isolated fetal hearts following termination of pregnancy: A feasibility study at 8 to 12 weeks' gestation9
Prenatal molecular testing and diagnosis of Beckwith‐Wiedemann syndrome8
Outcomes following the detection of fetal edema in early pregnancy prior to non‐invasive prenatal testing8
Parental mosaicism for apparent de novo genetic variants: Scope, detection, and counseling challenges8
Counseling for personal health implications identified during reproductive genetic carrier screening8
Increasing maternal age is not a significant cause of false‐positive results for monosomy X in non‐invasive prenatal testing8
RASopathies: A significant cause of polyhydramnios?8
A reasoned approach towards administering COVID‐19 vaccines to pregnant women8
Parental motivations for and adaptation to trio‐exome sequencing in a prospective prenatal testing cohort: Beyond the diagnosis8
Right ventricular dysfunction identified by abnormal strain values precedes evident growth restriction in small for gestational age fetuses8
Prenatally detected isolated ventricular septum defects and the association with chromosomal aberrations—A nationwide register‐based study from Denmark8
The importance of ultrasound preceding cell‐free DNA screening for fetal chromosomal abnormalities8
Fetal and neonatal abnormalities due to congenital syphilis: A literature review8
Combined exome sequencing and deep phenotyping in highly selected fetuses with skeletal dysplasia during the first and second trimesters improves diagnostic yield8
Cell‐free DNA screening in twin pregnancies: A more accurate and reliable screening tool8
Perioperative fetal hemodynamic changes in twin‐twin transfusion syndrome and neurodevelopmental outcome at two years of age8
Twin twin transfusion syndrome with and without selective fetal growth restriction: Predictors of donor demise8
Heterotaxy syndrome: Prenatal diagnosis, concomitant malformations and outcomes8
Personalized prenatal genomic testing: Couples' experience with choice regarding uncertain and adult‐onset findings from chromosomal‐microarray‐analysis8
Fetal therapy using rapamycin for a rapidly enlarging, obstructive, cervical lymphatic malformation: a case report8
Neurodevelopmental outcomes in children with isolated congenital diaphragmatic hernia: A systematic review and meta‐analysis7
Clinical outcomes of preimplantation genetic testing for hereditary cancer syndromes: A systematic review7
Temporal persistence of residual fetal cell‐free DNA from a deceased cotwin after selective fetal reduction in dichorionic diamniotic twin pregnancies7
Low prenatal detection rate of valvar pulmonary stenosis: What are we missing?7
Prenatal chromosome microarray: ‘The UK experience’. A survey of reporting practices in UK genetic services (2012–2019)7
Increased RISK for 47,XXY on cell‐free DNA screen: Not always Klinefelter syndrome7
Low fetal fraction in obese women at first trimester cell‐free DNA based prenatal screening is not accompanied by differences in total cell‐free DNA7
Fetal kidney charts of a novel measurement of the renal parenchymal thickness to evaluate fetal kidney growth and potential function7
Missed connections: recombination and human aneuploidy7
Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case‐series7
Prenatal diagnosis of congenital diaphragmatic hernia: Parental counselling and support needs7
Description of misdiagnosis and missed diagnosis of fetal complex heart malformations by prenatal echocardiography combined with postnatal cardiovascular casting7
Review of epidemiological factors (other than maternal age) that determine the prevalence of common autosomal trisomies7
Utility of fetal whole exome sequencing in the etiological evaluation and outcome of nonimmune hydrops fetalis7
The association between flow and oxygenation and cortical development in fetuses with congenital heart defects using a brain‐age prediction algorithm7
Genome‐wide abnormalities in embryos: Origins and clinical consequences7
The intra‐hepatic umbilical‐Porto‐systemic venous shunt and fetal growth7
Artificial intelligence in obstetric ultrasound: A scoping review7
Chromosomal microarray analysis in fetuses with central nervous system anomalies: An 8‐year long observational study from a tertiary care university hospital7
Is there a role for fetal interventions in gastroschisis management? – An updated comprehensive review7
Predicting neonatal outcomes in infants with giant omphalocele using prenatal magnetic resonance imaging calculated observed‐to‐expected fetal lung volumes7
Investigation into the genetics of fetal congenital lymphatic anomalies7
Detection rates and residual risk for a postnatal diagnosis of an atypical chromosome aberration following combined first‐trimester screening7
Cell‐free DNA screening for fetal aneuploidy using the rolling circle method: A step towards non invasive prenatal testing simplification7
What women want: General population perspectives and access to preconception expanded carrier screening7
Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease‐causing variants7
Interpeduncular angle: A new parameter for assessing intracranial hypotension in fetuses with spinal dysraphism7
Appearance of fetal intestinal obstruction on fetal MRI7
Cytogenetic signatures of recurrent pregnancy losses7
The effect of maternal body mass index and gestational age on circulating trophoblast yield in cell‐based noninvasive prenatal testing6
Third trimester predictors of interventional timing and accuracy of fetal anticipatory guidance in tetralogy of Fallot: A multi‐center study6
Emerging technologies for prenatal diagnosis: The application of whole genome and RNA sequencing6
Right or wrong? Looking through the retrospectoscope to analyse predictions made a decade ago in prenatal diagnosis and fetal surgery6
Left myocardial performance index in monochorionic diamniotic twin pairs complicated by selective fetal growth restriction with abnormal umbilical artery Doppler6
Expanded carrier screening: What conditions should we screen for?6
Prenatal phenotype of Kabuki syndrome: A case series and literature review6
Factors associated with poor outcome in fetuses prenatally diagnosed with sacrococcygeal teratoma6
Machine learning improves early prediction of small‐for‐gestational‐age births and reveals nuchal fold thickness as unexpected predictor6
Changing indications and antenatal prognostic factors for ex‐utero intrapartum treatment procedures6
Fetal echocardiographic markers to differentiate between a right and double aortic arch6
Fetal lung regeneration using stem cell‐derived extracellular vesicles: A new frontier for pulmonary hypoplasia secondary to congenital diaphragmatic hernia6
Performance of diagnostic ultrasound to identify causes of hydramnios6
Exomphalos without other prenatally detected anomalies: Perinatal outcomes from 22 years of population‐based data6
Selective serotonin reuptake inhibitor or serotonin‐norepinephrine reuptake inhibitors and epidemiological characteristics associated with prenatal diagnosis of congenital heart disease6
COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage6
Antenatal diagnosis of chorioamnionitis: A review of the potential role of fetal and placental imaging6
Impact of cell‐free DNA screening on parental knowledge of fetal sex and disorders of sex development6
Isolation of single circulating trophoblasts from maternal circulation for noninvasive fetal copy number variant profiling6
Chromosomal microarray analysis in pregnancy loss: Is it time for a consensus approach?6
Consequences of imprecision in fetal fraction estimation on performance of cell‐free DNA screening for Down syndrome6
Mosaicism for copy number variations in the placenta is even more difficult to interpret than mosaicism for whole chromosome aneuploidy6
First‐trimester screening based on cell‐free DNA vs combined screening: A randomized clinical trial on women's experience6
Economic impact of using maternal plasma cell‐free DNA testing to guide further workup in recurrent pregnancy loss6
Views of patients and parents of children with genetic disorders on population‐based expanded carrier screening6
Fetal double outlet right ventricle without heterotaxy syndrome: Diagnostic spectrum, associated extracardiac pathology and clinical outcomes6
Prenatal diagnosis of genetic aberrations in fetuses with short femur detected by ultrasound: A prospective cohort study6
Feasibility study of using unbalanced embryos as a reference to distinguish euploid carrier from noncarrier embryos by single nucleotide polymorphism array for reciprocal translocations6
Pulmonary hypertension in congenital diaphragmatic hernia: Antenatal prediction and impact on neonatal mortality6
Pregnancy outcomes of fetuses with congenital heart disease after a prenatal diagnosis with chromosome microarray6
Prenatally diagnosed isolated perimembranous ventricular septal defect: Genetic and clinical implications6
Timing of diagnosis of fetal structural abnormalities after the introduction of universal cell‐free DNA in the absence of first‐trimester anatomical screening6
Fetal cerebral ventriculomegaly: What do we tell the prospective parents?6
Exposure to phthalates: germline dysfunction and aneuploidy6
20 years review of antenatal diagnosis of haemoglobin Bart's disease and treatment with intrauterine transfusion6
Genetic diagnosis of common fetal renal abnormalities detected on prenatal ultrasound6
Clinically relevant DNA viruses in pregnancy6
Should chromosomal microarray be offered to fetuses with ultrasonographic soft markers in second trimester: A prospective cohort study and meta‐analysis6
The cell‐free DNA virome of 108,349 Dutch pregnant women6
Cell‐free DNA screening for rare autosomal trisomies and segmental chromosome imbalances5
A systematic review and meta‐analysis of cell‐free DNA testing for detection of fetal sex chromosome aneuploidy5
Maternity health care professionals' views and experiences of fetal genomic uncertainty: A review5
Incidence of chromosomal abnormalities in fetuses with first trimester ultrasound anomalies and a low‐risk cell‐free DNA test for common trisomies5
Right ventricular outflow tract abnormalities in monochorionic twin pregnancies without twin‐to‐twin transfusion syndrome: Prenatal course and postnatal long‐term outcomes5
Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification5
Patients' choices and opinions on chorionic villous sampling and non‐invasive alternatives for prenatal testing following preimplantation genetic testing for hereditary disorders: A cross‐sectional qu5
Congenital lymphocytic choriomeningitis virus: A review5
First‐trimester absent nasal bone: is it a predictive factor for pathogenic CNVs in the low‐risk population?5
Issues associated with possible implementation of Non‐Invasive Prenatal Testing (NIPT) in first‐tier screening: A rapid scoping review5
Fetally‐injected drugs for immobilization and analgesia do not modify fetal brain development in a rabbit model5
Triplet pregnancy: What do we tell the prospective parents5
The aorto‐left ventricular tunnel from a fetal perspective: Original case series and literature review5
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series5
Open intrauterine repair of spina bifida aperta: Historical aspects, current availability, and clinical outcomes from the Latin American Spina Bifida Consortium5
Additional value of advanced ultrasonography in pregnancies with two inconclusive cell‐free DNA draws5
Medications for pregnant women: A balancing act between the interests of the mother and of the fetus5
How does cell‐based non‐invasive prenatal test (NIPT) perform against chorionic villus sampling and cell‐free NIPT in detecting trisomies and copy number variations? A clinical study from Denmark5
A cross‐country comparison of pregnant women's decision‐making and perspectives when opting for non‐invasive prenatal testing in the Netherlands and Belgium5
Fetal and neonatal brain lesions following laser ablation for twin‐to‐twin‐transfusion‐syndrome as detected by pre‐ and post‐natal brain imaging5
Potential sealing and repair of human FM defects after trauma with peptide amphiphiles and Cx43 antisense5
Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines5
De novo HRAS gene mutation associated with Costello syndrome identified by non‐invasive cell‐free fetal DNA screening5
Racial and ethnic differences in uptake of cell‐free fetal DNA aneuploidy screening in an urban safety net hospital5
Prenatally detected copy number variants in a national cohort: A postnatal follow‐up study5
ISPD 2022 debate—When offering a first trimester ultrasound at 11 + 0 to 13 + 6 weeks, a detailed review of fetal anatomy should be included5
Impact of the cystic neural tube defects on fetal motor function in prenatal myelomeningocele repairs: A retrospective cohort study5
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