Prenatal Diagnosis

Article	Citations
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Prenatal detection of mosaicism for a genome wide uniparental disomy cell line in a cohort of patients: Implications and outcomes	48
Different expressions of cardiac biomarkers between different types of acquired right ventricular outflow tract abnormality in monochorionic twins	41
Isolation of single circulating trophoblasts from maternal circulation for noninvasive fetal copy number variant profiling	34
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Association between low fetal fraction in cell‐free DNA testing and adverse pregnancy outcome: A systematic review	31
The aorto‐left ventricular tunnel from a fetal perspective: Original case series and literature review	30
A microfluidic platform for high‐purity cell free DNA extraction from plasma for non‐invasive prenatal testing	30
Response to Moldenhauer, Johnson & Van Mieghem ISPD 2022 DEBATE: There should be formal accreditation and ongoing quality assurance/review for units offering fetal therapy that includes public rep	27
Calf circumferences in fetuses and neonates with and without talipes equinovares. A prospective cohort study	27
Prenatal diagnosis of bilateral anophthalmia: Identifying de novo SOX2 variant	26
Connecting the dots: Carrier screening and the Genetic Information Nondiscrimination Act in the United States	26
Response to the correspondence on “Performance of single‐gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting”	25
Low fetal fraction in cell‐free DNA testing is associated with adverse pregnancy outcome: Analysis of a subcohort of the TRIDENT‐2 study	25
S100B in maternal circulation of pregnancies complicated by FGR and brain sparing	24
Prenatal exome sequencing for the morphologically normal fetus: Should we be doing it?	24
Understanding the experiences and perspectives of prenatal screening among a diverse cohort	24
Appropriately Grown Monochorionic Diamniotic Twins With Intermittent Absent and Reversed End‐Diastolic Umbilical Artery Flow: Proximate Cord Insertion Is a Key Risk Marker	24
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Congenital heart anomalies in the first trimester: From screening to diagnosis	23
Brain Abnormalities in Prenatally Diagnosed Rubinstein‐Taybi Syndrome	22
Impact of the cystic neural tube defects on fetal motor function in prenatal myelomeningocele repairs: A retrospective cohort study	22
Prenatal Diagnosis of Horseshoe Lung: A Report of Three Cases and Review of the Literature	22

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Retrospective identification of prenatal fetal anomalies associated with diagnostic neonatal genomic sequencing results	21
Cerebro‐placental and umbilico‐cerebral ratios in uncomplicated monochorionic twins: Longitudinal references and comparison with singletons	20
Pulmonary hypertension in congenital diaphragmatic hernia: Antenatal prediction and impact on neonatal mortality	20
Highlights of the 26th ISPD annual conference, hosted in a vibrant Canadian city along with the Montreal grand prix 2022	19
Technically successful fetal aortic valvuloplasty acutely improves left heart output	19
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 Denmark	19
Lung proliferation is dependent on the duration not the timepoint of tracheal occlusion in nitrofen rats with diaphragmatic hernia	18
Successful antenatal treatment of MAGED2‐related Bartter syndrome and review of treatment options and efficacy	18
Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow‐up	18
Postmortem imaging of fetuses at early gestations: A comparison of microfocus computed tomography with postmortem magnetic resonance at 9.4 T and postmortem ultrasound	17
A cross‐country comparison of pregnant women's decision‐making and perspectives when opting for non‐invasive prenatal testing in the Netherlands and Belgium	16
A novel MED12 pathogenic variant in a female fetus with facial cleft and cardiac defects identified in the first trimester	16
IVF embryo choices and pregnancy outcomes	16
Prenatal detection rates for congenital heart disease using abnormal obstetrical screening ultrasound alone as indication for fetal echocardiography	16
Cell‐free DNA screening for common autosomal trisomies using rolling‐circle replication in twin pregnancies	16
Development of standard definitions and grading for Maternal and Fetal Adverse Event Terminology	15
Prenatal Treatment of Bronchopulmonary Sequestration via Radiofrequency Ablation of the Feeding Artery	15
Fetal and neonatal abnormalities due to congenital syphilis: A literature review	15
Prenatal ultrasound finding of atypical genitalia: Counseling, genetic testing and outcomes	15
The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencing	15
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Local host response of commercially available dural patches for fetal repair of spina bifida aperta in rabbit model	14
Transforming congenital heart disease management: Advances in fetal cardiac interventions	14
Is the first‐trimester combined screening result associated with the phenotype of Down syndrome? A population‐based cohort study	14
Noninvasive prenatal testing of hereditary colorectal cancer syndromes using cell‐free DNA in maternal plasma	14
Prenatal assessment of pulmonary vasculature development in fetuses with congenital diaphragmatic hernia: A literature review	14
Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia	14
Severe early‐onset fetal growth restriction: What do we tell the prospective parents?	13
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 qu	13
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Implementing a rapid fetal exome sequencing service: What do parents and health professionals think?	13
Severe fetal ventriculomegaly: Fetal morbidity and mortality, caesarean delivery rates and obstetrical challenges in a large prospective cohort	13
The prevalence of prenatal sonographic findings in postnatal diagnostic exome sequencing performed for neurocognitive phenotypes: A cohort study	13
Advances and Challenges in Prenatal Detection and Genetic Diagnosis of Upper Limb Anomalies: Analysis of a South London and Kent Cohort	13
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Poster Abstracts of the ISPD 28th International Conference on Prenatal Diagnosis and Therapy, Boston, Massachusetts, United States, 7–10 July 2024	13
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Conus medullaris migration during the third trimester: A retrospective study	13
State‐wide increase in prenatal diagnosis of klinefelter syndrome on amniocentesis and chorionic villus sampling: Impact of non‐invasive prenatal testing for sex chromosome conditions	13
‘I Could Trust It’: Experiences of Reciprocal Translocation Carriers and Their Partners With Prenatal Cell‐Free DNA Screening for Unbalanced Translocations	13
Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects	13
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Prenatal Diagnosis of KBG Syndrome: Phenotypic and Genotypic Features of 12 Fetal Cases With the Disorder	12
Interdependence of placenta and fetal cardiac development	12
A Missense Variant in KIF14 Results in Two Gene Isoforms by Affecting Normal Gene Splicing	12
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Expanding the TUBB3‐Related Phenotypic Landscape: Fetal Diagnosis of Novel TUBB3 Variant Linked With Phenotypic Variability Within a Single Family	12
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Lessons learnt from prenatal exome sequencing	12
Preference for secondary findings in prenatal and pediatric exome sequencing	11
Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia	11
Hypospadias Associated With Fetal Growth Restriction: A Multicentric Descriptive and Prognostic Cohort Study	11
Fetal cardiac intervention in hypoplastic left heart syndrome with intact or restrictive atrial septum, systematic review, and meta‐analysis	11
Confined Placental Mosaicism Detected With Non‐Invasive Prenatal Testing: Is There an Association Between Mosaic Ratio and Pregnancy Outcome?	11
Eliminating first trimester combined testing: Consequences for early detection of significant fetal anomalies	11
Prenatal Diagnosis of Shwachman–Diamond Syndrome: Fetal Compound Heterozygous Variants in the SBDS Gene Associated With Mildly Straight Ribs	11
Prenatal Diagnosis of Warsaw Breakage Syndrome: Fetal Compound Heterozygous Variants in the DDX11 Gene Associated With Growth Restriction, Cerebral, and Extra‐Cerebral Malformations	11
Maternal serological screening for cytomegalovirus infection may play an important role nowadays	11
Counseling for personal health implications identified during reproductive genetic carrier screening	11
Correspondence on “Current Controversy in Prenatal Diagnosis: The Use of cfDNA to Screen for Monogenic Conditions in Low Risk Populations Is Ready for Clinical Use”	11
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Postnatal genetic testing on cord blood for prenatally identified high‐probability cases	11
Optimal timing of delivery for growth restricted fetuses with gastroschisis: A decision analysis	11
Prediction of Preeclampsia in Twins Using First Trimester: cffDNA Fraction, PlGF, and MAP	10
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Association between low fetal fraction in cell‐free DNA screening and fetal chromosomal aberrations: A systematic review and meta‐analysis	10
Factors associated with late gestational age of diagnosis and/or delayed referral of fetuses with major structural malformations: A study in a tertiary care hospital in South India	10
Cardiac time intervals and myocardial performance index for prediction of twin–twin transfusion syndrome	10
Perinatal and long‐term outcome of endoscopic laser surgery for twin–twin transfusion syndrome with and without selective fetal growth restriction: A retrospective cohort study	10
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)	10
Artificial intelligence in obstetric ultrasound: A scoping review	10
Prenatal diagnosis of PORCN‐related developmental syndrome in a fetus: A novel phenotype	10
Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell‐Free DNA? A Systematic Literature Review	10
Pregnancy Complications in Fetal Congenital Heart Disease: A Result of Common Early Developmental Pathways Rather Than Fetal Hemodynamics	10
Factors associated with poor outcome in fetuses prenatally diagnosed with sacrococcygeal teratoma	10
Prenatal testing for imprinting disorders: A laboratory perspective	10
A novel SMOC1 pathogenic homozygous variant in a fetus with mesomelia of the lower limbs, micrognathia and hypertelorism and an incidental finding of CYP21A2‐related congenital adrenal h	10
Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses	9
Long‐read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis	9
Role of Amniotic Fluid Toxicity in the Pathophysiology of Myelomeningocele: A Narrative Literature Review	9
Turner syndrome‐omphalocele association: Incidence, karyotype, phenotype and fetal outcome	9
Prenatal Phenotype of Alkuraya‐Kučinskas Syndrome: A Novel Case and Systematic Literature Review	9
Considerations for specialized maternal–fetal care in the Somali‐American community	9
Fetal Endoscopic Tracheal Occlusion (FETO) for Left and Right Congenital Diaphragmatic Hernia in Canada	9
Twin twin transfusion syndrome with and without selective fetal growth restriction: Predictors of donor demise	9
The Role of Prenatal Ultrasound and Added Value of Post‐Mortem Radiographic Imaging With X‐Ray and CT in Suspected Fetal Skeletal Dysplasia	9
Associations and outcomes of prenatally detected rhombencephalosynapsis	9
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Prenatal hydronephrosis: Bridging pre‐ and postnatal management	9
Prenatal Diagnosis of a KIDINS220 De Novo Heterozygous Variant in a Fetus With a Complex CNS Anomaly	9
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Syndromic congenital diaphragmatic hernia: Current incidence and outcome. Analysis from the congenital diaphragmatic hernia study group registry	9
Acute fetal leukemia: When should it be suspected? What assessment should be performed? A case series and review of literature	9
Fetal diagnosis and management of pulmonary artery sling: A case series	9
ISPD 2021 debate ‐ All in vitro fertilization cycles should involve pre‐implantation genetic testing to improve fetal health and pregnancy outcomes	9
Fatal fetal anomaly: Experiences of women and their partners	9
A novel method for extracting circulating cell‐free DNA from whole blood samples and its utility in the non‐invasive prenatal test	9
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Novel compound heterozygous variants in EMC1: Overlapping phenotypes of left ventricular noncompaction and long QT syndrome warranting in‐depth exploration	8
Prenatal Diagnosis of Congenital Paraesophageal Hernia With Gastric Volvulus and Postnatal FBN1 Mutation Confirmation	8
Novel Missense Variant in the SMARCD1 Gene as the Cause of Coffin–Siris Syndrome 11 in a Fetus With Ambiguous Genitalia and Multiple Dysmorphic Features	8
Shortened fetal long bones: A notable intrauterine phenotypic feature in SHOX‐associated skeletal dysplasia	8
Non‐invasive prenatal testing detects blood chimerism in dizygotic twins	8
Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants presented with thick nuchal translucency and cardiac abnormalities	8
Women's attitudes towards disclosure of genetic information in pregnancy with varying levels of penetrance	8
Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders	8
Reproductive health in Turner syndrome: A narrative review	8
Fetal de novo heterozygous variant in the isocitrate dehydrogenase 1 gene associated with growth restriction, skeletal, cerebral and vascular anomalies	8
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Exteriorization of the uterus reduces fetoscopic cannula‐induced stress and strain: A finite element model analysis	8
A de novo pathogenic variant in DHX30 gene in a fetus with isolated dysgenesis of the corpus callosum	8
Expanding the phenotypic spectrum of MPDZ gene variants: A case report with prenatally detected Dandy–Walker malformation and single ventricle heart	8
Increased use of diagnostic testing after increased nuchal translucency: The influence of non‐invasive prenatal testing and chromosomal microarray	8
Low fetal fraction in obese women at first trimester cell‐free DNA based prenatal screening is not accompanied by differences in total cell‐free DNA	8
Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth	8
Clinical experience of next generation sequencing based expanded carrier screening in high‐risk couples from a tertiary healthcare center in Pakistan	7
Fetal central nervous system anomalies: When should we offer exome sequencing?	7
The utility of pathologic examination and comprehensive phenotyping for accurate diagnosis with perinatal exome sequencing	7
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Follow‐Up of Infants With Congenital Cytomegalovirus Following Maternal Primary Infection in the First Trimester and Normal Fetal Brain Imaging at Midgestation	7
Two unrelated fetuses with ITPR1 missense variants and fetal hydrops	7
Fetoscopic Release of Amniotic Bands Based on the Evidence—A Systematic Review	7
Has the Era of Individualized Intrauterine Treatment for Congenital Adrenal Hyperplasia Arrived?	7
Prenatal diagnosis of vascular anomalies	7
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Prenatal diagnosis of microcephaly as shown by plateauing of head circumference growth during the 3rd trimester in a fetus with a CCND2 inverse growth variant	7

Congenital small bowel obstruction: Prenatal detection and outcome	7
Do We Really Want to Go Fishing for Foetal CC Dysgenesis (Whatever This Means…)? Extreme Caution is Needed	7
A reasoned approach towards administering COVID‐19 vaccines to pregnant women	7
The Fall Out of the 2017 European Medical Device Regulation for Tracheal Occlusion	7
Alterations in cardiac output in fetuses with congenital heart disease	7
A framework for reporting secondary and incidental findings in prenatal sequencing: When and for whom?	7
Antenatal diagnosis of chorioamnionitis: A review of the potential role of fetal and placental imaging	7
Outcomes of late open fetal surgery for intrauterine spina bifida repair after 26 weeks. Should we extend the Management of Myelomeningocele Study time window?	7
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Post‐Abortem Detection of a Pathogenic Somatic PIK3CA‐Variant in an Abdominal Lymphangioma That Is Not Present in Cultured Amniotic Fluid Cells	7
Susceptibility‐weighted imaging to evaluate normal and abnormal vertebrae in fetuses: A preliminary study	7
Navigating the Challenges of Exome Sequencing in Structurally Normal Fetuses	7
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Diagnosis of fetal total anomalous pulmonary venous connection based on the post‐left atrium space ratio using artificial intelligence	6
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Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort	6
Nomograms of fetal cardiothoracic ratio from 17 to 37 weeks' gestation as assessed by three different measurement techniques and their correlation with gestational age	6
Is there an increased risk of genetic abnormalities in fetuses with congenital heart disease in the setting of growth restriction?	6
Has the introduction of increased genetic prenatal testing affected rates of termination of pregnancy due to fetal abnormality?	6
Mammalian target of rapamycin inhibitors: A new‐possible approach for in‐utero medication therapy	6
Prenatal diagnosis of ROR‐2 related Robinow syndrome presenting with fetal ultrasound findings of mesomelia, vertebral, digital and genital abnormalities	6
The Conundrum of Mechanics Versus Genetics in Congenital Hydrocephalus and Its Implications for Fetal Therapy Approaches: A Scoping Review	6
Issues associated with possible implementation of Non‐Invasive Prenatal Testing (NIPT) in first‐tier screening: A rapid scoping review	6
The Association of Prenatal Alcohol Exposure With Brain Development During the First 1000 Days of Life: A Systematic Review	6
Whole Exome Sequencing in a Population of Fetuses With Structural Anomalies	6
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Non‐invasive prenatal testing in the management of twin pregnancies	6
Comparing the Introduction and Implementation of Noninvasive Prenatal Testing (NIPT) in Japan, the Netherlands, and the United States: An Integrative Review	6
Presentation of ventriculomegaly at 11–14 weeks of gestation: An analysis of longitudinal data	6
Computer‐assisted fetal laser surgery in the treatment of twin‐to‐twin transfusion syndrome: Recent trends and prospects	6
Fetal agenesis of the septum pellucidum: Ultrasonic diagnosis and clinical significance	6
Clinical Characteristics and Outcomes of Intrauterine Blood Transfusion (IUT) for Infectious Etiologies	6
The fetal stomach throughout gestation: Normal charts and clinical implication	6
Opportunities and Challenges of Fetal Gene Therapy	6
Predictors of fetal death, neonatal survival and neurological outcomes in severe twin‐twin transfusion syndrome treated by laser ablation of placental vessels	6
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Chromosomal Aberrations in Fetuses With Isolated Persistent Right Umbilical Vein—A Nationwide Study	6
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Maternal cell contamination in postnatal umbilical cord blood samples implies a low risk for genetic misdiagnoses	6
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Risk of Genetic Abnormality in Fetuses With Unilateral Versus Bilateral Pleural Effusions	6
Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series	6
Cell‐Free DNA Results Indicating Mosaic Monosomy X of Likely Maternal Origin: Impact on Genetic Counseling Practices and Patient Experiences	6
Development and validation of a novel fetal vesico‐amniotic shunt, the vortex shunt	6
A novel ZIC3 mutation in a Chinese family with heterotaxy and multiple types of congenital heart defect	6
Droplet digital PCR is a cost‐effective method for analyzing long cell‐free DNA in maternal plasma: Application in preeclampsia	6
Cell‐free DNA screening for fetal aneuploidy using the rolling circle method: A step towards non invasive prenatal testing simplification	6
Caudal regression in fetus with de novo SMARCA2 pathogenic variant	6
Prenatal exome sequencing in fetuses with callosal anomalies	6
Prognostic Value of Antenatal Tumor Growth Rate Parameters in Fetal Sacrococcygeal Teratoma: A French Multicenter Retrospective Study	5
Genetic diagnosis of common fetal renal abnormalities detected on prenatal ultrasound	5
Have the results of the TOTAL‐trials changed the attitude and practice of maternal‐fetal medicine specialists?	5
Noninvasive twin genotyping for recessive monogenic disorders by relative haplotype dosage	5
When a sex chromosome aneuploidy is diagnosed—views from a parent support organisation	5
Less‐invasive autopsy for early pregnancy loss	5
Microvillus inclusion disease with prenatal ultrasound findings and postpartum confirmed	5
Prenatal cerebellar growth is altered in congenital diaphragmatic hernia on ultrasound	5
Exome‐based preconception carrier testing for consanguineous couples in China	5
Outstanding clinical and research questions in complex twin and multiple pregnancy	5
Maternal Vascular Malperfusion and Anatomic Cord Abnormalities Are Prevalent in Pregnancies With Fetal Congenital Heart Disease	5
Serum Folate Levels in Reproductive Age Women: Implications for Prevention of Fetal Neural Tube Defects	5
Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype	5
Positive predictive value of a single nucleotide polymorphism (SNP)‐based NIPT for aneuploidy in twins: Experience from clinical practice	5
The Toronto nomogram: A Bayesian meta‐regression derived prenatal ultrasound index to predict lower urinary tract obstruction and prune belly syndrome	5
Brain development is altered in rabbit fetuses with congenital diaphragmatic hernia	5
The fetal sequencing consortium: The value of multidisciplinary dialog and collaboration	5
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Investigation into the genetics of fetal congenital lymphatic anomalies	5
Increased nuchal translucency after low‐risk noninvasive prenatal testing: What should we tell prospective parents?	5
Ultrasound findings and detection of fetal abnormalities before 11 weeks of gestation	5
Enhancing Small‐for‐Gestational‐Age Prediction: Multi‐Country Validation of Nuchal Thickness, Estimated Fetal Weight, and Machine Learning Models	5
How should fetal surgery for congenital diaphragmatic hernia be implemented in the post‐TOTAL trial era: A discussion	5
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype	5
The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease	5
Anterior extension of the choroid plexus into the frontal horns of the fetal lateral cerebral ventricles: Prenatal findings and postnatal outcome	5
Changing indications and antenatal prognostic factors for ex‐utero intrapartum treatment procedures	5
Outcome of monochorionic triamniotic triplet pregnancies: Expectant management versus fetal reduction	5
Test performance and clinical utility of expanded non‐invasive prenatal test: Experience on 71,883 unselected routine cases from one single center	5
Non‐invasive prenatal testing (NIPT) in twin pregnancies affected by early single fetal demise: A systematic review of NIPT and vanishing twins	5
Genome‐Wide Cell‐Free DNA Analysis for Aneuploidy Detection in Miscarriages: Test Performance Meta‐Analysis	5
Congenital lymphocytic choriomeningitis virus: A review	5
Clinicians’ attitudes towards parental choice in the era of advanced genomic tests in pregnancy	5
Assessment of Learning Curve for Radiofrequency Ablation in Twin Reversed Arterial Perfusion Sequence: A Simulation Model Study	5