Prenatal Diagnosis

Article	Citations
Issue Information	145
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	78
Calf circumferences in fetuses and neonates with and without talipes equinovares. A prospective cohort study	62
Prenatal diagnosis of bilateral anophthalmia: Identifying de novo SOX2 variant	48
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Understanding the experiences and perspectives of prenatal screening among a diverse cohort	32
Connecting the dots: Carrier screening and the Genetic Information Nondiscrimination Act in the United States	30
Association between low fetal fraction in cell‐free DNA testing and adverse pregnancy outcome: A systematic review	30
Response to the correspondence on “Performance of single‐gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting”	29
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The aorto‐left ventricular tunnel from a fetal perspective: Original case series and literature review	27
Prenatal exome sequencing for the morphologically normal fetus: Should we be doing it?	26
A microfluidic platform for high‐purity cell free DNA extraction from plasma for non‐invasive prenatal testing	25
Different expressions of cardiac biomarkers between different types of acquired right ventricular outflow tract abnormality in monochorionic twins	24
Isolation of single circulating trophoblasts from maternal circulation for noninvasive fetal copy number variant profiling	24
S100B in maternal circulation of pregnancies complicated by FGR and brain sparing	24
Congenital heart anomalies in the first trimester: From screening to diagnosis	24
Low fetal fraction in cell‐free DNA testing is associated with adverse pregnancy outcome: Analysis of a subcohort of the TRIDENT‐2 study	24
Successful antenatal treatment of MAGED2‐related Bartter syndrome and review of treatment options and efficacy	23
Lung proliferation is dependent on the duration not the timepoint of tracheal occlusion in nitrofen rats with diaphragmatic hernia	23
Prenatal detection of mosaicism for a genome wide uniparental disomy cell line in a cohort of patients: Implications and outcomes	23
Impact of the cystic neural tube defects on fetal motor function in prenatal myelomeningocele repairs: A retrospective cohort study	22
A novel MED12 pathogenic variant in a female fetus with facial cleft and cardiac defects identified in the first trimester	22
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Highlights of the 26th ISPD annual conference, hosted in a vibrant Canadian city along with the Montreal grand prix 2022	21
Cerebro‐placental and umbilico‐cerebral ratios in uncomplicated monochorionic twins: Longitudinal references and comparison with singletons	21
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	20
Cell‐free DNA screening for common autosomal trisomies using rolling‐circle replication in twin pregnancies	20
Technically successful fetal aortic valvuloplasty acutely improves left heart output	20
Retrospective identification of prenatal fetal anomalies associated with diagnostic neonatal genomic sequencing results	18
IVF embryo choices and pregnancy outcomes	18
A cross‐country comparison of pregnant women's decision‐making and perspectives when opting for non‐invasive prenatal testing in the Netherlands and Belgium	17
Prenatal detection rates for congenital heart disease using abnormal obstetrical screening ultrasound alone as indication for fetal echocardiography	17
Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow‐up	17
Brain Abnormalities in Prenatally Diagnosed Rubinstein‐Taybi Syndrome	17
Prenatal ultrasound finding of atypical genitalia: Counseling, genetic testing and outcomes	16
Pulmonary hypertension in congenital diaphragmatic hernia: Antenatal prediction and impact on neonatal mortality	16
Issue Information	16
Fetal and neonatal abnormalities due to congenital syphilis: A literature review	15
Fetally‐injected drugs for immobilization and analgesia do not modify fetal brain development in a rabbit model	15
The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencing	15
Development of standard definitions and grading for Maternal and Fetal Adverse Event Terminology	15
Severe fetal ventriculomegaly: Fetal morbidity and mortality, caesarean delivery rates and obstetrical challenges in a large prospective cohort	14
Is the first‐trimester combined screening result associated with the phenotype of Down syndrome? A population‐based cohort study	14
Postmortem imaging of fetuses at early gestations: A comparison of microfocus computed tomography with postmortem magnetic resonance at 9.4 T and postmortem ultrasound	14
Prenatal assessment of pulmonary vasculature development in fetuses with congenital diaphragmatic hernia: A literature review	14
Implementing a rapid fetal exome sequencing service: What do parents and health professionals think?	14
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Conus medullaris migration during the third trimester: A retrospective study	14
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Lessons learnt from prenatal exome sequencing	13
Local host response of commercially available dural patches for fetal repair of spina bifida aperta in rabbit model	13
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Prenatal Treatment of Bronchopulmonary Sequestration via Radiofrequency Ablation of the Feeding Artery	13
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Transforming congenital heart disease management: Advances in fetal cardiac interventions	13
‘I Could Trust It’: Experiences of Reciprocal Translocation Carriers and Their Partners With Prenatal Cell‐Free DNA Screening for Unbalanced Translocations	12
Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects	12
Noninvasive prenatal testing of hereditary colorectal cancer syndromes using cell‐free DNA in maternal plasma	12
Advances and Challenges in Prenatal Detection and Genetic Diagnosis of Upper Limb Anomalies: Analysis of a South London and Kent Cohort	12
Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia	12
Poster Abstracts of the ISPD 28th International Conference on Prenatal Diagnosis and Therapy, Boston, Massachusetts, United States, 7–10 July 2024	12
Expanding the TUBB3‐Related Phenotypic Landscape: Fetal Diagnosis of Novel TUBB3 Variant Linked With Phenotypic Variability Within a Single Family	12
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	12
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	11
Interdependence of placenta and fetal cardiac development	11
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Maternal serological screening for cytomegalovirus infection may play an important role nowadays	11
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Eliminating first trimester combined testing: Consequences for early detection of significant fetal anomalies	11
Optimal timing of delivery for growth restricted fetuses with gastroschisis: A decision analysis	11
A Missense Variant in KIF14 Results in Two Gene Isoforms by Affecting Normal Gene Splicing	11

The prevalence of prenatal sonographic findings in postnatal diagnostic exome sequencing performed for neurocognitive phenotypes: A cohort study	11
Severe early‐onset fetal growth restriction: What do we tell the prospective parents?	11
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Postnatal genetic testing on cord blood for prenatally identified high‐probability cases	11
Fetal cardiac intervention in hypoplastic left heart syndrome with intact or restrictive atrial septum, systematic review, and meta‐analysis	11
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
Prenatal Diagnosis of Warsaw Breakage Syndrome: Fetal Compound Heterozygous Variants in the DDX11 Gene Associated With Growth Restriction, Cerebral, and Extra‐Cerebral Malformations	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
Hypospadias Associated With Fetal Growth Restriction: A Multicentric Descriptive and Prognostic Cohort Study	10
Twin twin transfusion syndrome with and without selective fetal growth restriction: Predictors of donor demise	10
Preference for secondary findings in prenatal and pediatric exome sequencing	10
Confined Placental Mosaicism Detected With Non‐Invasive Prenatal Testing: Is There an Association Between Mosaic Ratio and Pregnancy Outcome?	10
Prenatal Diagnosis of Shwachman–Diamond Syndrome: Fetal Compound Heterozygous Variants in the SBDS Gene Associated With Mildly Straight Ribs	10
Prenatal Diagnosis of KBG Syndrome: Phenotypic and Genotypic Features of 12 Fetal Cases With the Disorder	10
Acute fetal leukemia: When should it be suspected? What assessment should be performed? A case series and review of literature	10
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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”	10
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Counseling for personal health implications identified during reproductive genetic carrier screening	10
Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia	10
Turner syndrome‐omphalocele association: Incidence, karyotype, phenotype and fetal outcome	10
Associations and outcomes of prenatally detected rhombencephalosynapsis	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
Fatal fetal anomaly: Experiences of women and their partners	9
Role of Amniotic Fluid Toxicity in the Pathophysiology of Myelomeningocele: A Narrative Literature Review	9
Association between low fetal fraction in cell‐free DNA screening and fetal chromosomal aberrations: A systematic review and meta‐analysis	9
Considerations for specialized maternal–fetal care in the Somali‐American community	9
Prenatal Diagnosis of a KIDINS220 De Novo Heterozygous Variant in a Fetus With a Complex CNS Anomaly	9
Fetal diagnosis and management of pulmonary artery sling: A case series	9
Prenatal Phenotype of Alkuraya‐Kučinskas Syndrome: A Novel Case and Systematic Literature Review	9
Issue Information	9
Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses	9
Prenatal diagnosis of PORCN‐related developmental syndrome in a fetus: A novel phenotype	9
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)	9
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	9
Cardiac time intervals and myocardial performance index for prediction of twin–twin transfusion syndrome	9
ISPD 2021 debate ‐ All in vitro fertilization cycles should involve pre‐implantation genetic testing to improve fetal health and pregnancy outcomes	9
Syndromic congenital diaphragmatic hernia: Current incidence and outcome. Analysis from the congenital diaphragmatic hernia study group registry	9
Prenatal hydronephrosis: Bridging pre‐ and postnatal management	9
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	8
Exteriorization of the uterus reduces fetoscopic cannula‐induced stress and strain: A finite element model analysis	8
A novel method for extracting circulating cell‐free DNA from whole blood samples and its utility in the non‐invasive prenatal test	8
Prenatal testing for imprinting disorders: A laboratory perspective	8
Shortened fetal long bones: A notable intrauterine phenotypic feature in SHOX‐associated skeletal dysplasia	8
Novel compound heterozygous variants in EMC1: Overlapping phenotypes of left ventricular noncompaction and long QT syndrome warranting in‐depth exploration	8
Issue Information	8
Women's attitudes towards disclosure of genetic information in pregnancy with varying levels of penetrance	8
Non‐invasive prenatal testing detects blood chimerism in dizygotic twins	8
Artificial intelligence in obstetric ultrasound: A scoping review	8
Expanding the phenotypic spectrum of MPDZ gene variants: A case report with prenatally detected Dandy–Walker malformation and single ventricle heart	8
The utility of pathologic examination and comprehensive phenotyping for accurate diagnosis with perinatal exome sequencing	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	8
A de novo pathogenic variant in DHX30 gene in a fetus with isolated dysgenesis of the corpus callosum	8
Factors associated with poor outcome in fetuses prenatally diagnosed with sacrococcygeal teratoma	8
Long‐read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis	8
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Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants presented with thick nuchal translucency and cardiac abnormalities	7
Fetal Endoscopic Tracheal Occlusion (FETO) for Left and Right Congenital Diaphragmatic Hernia in Canada	7
Susceptibility‐weighted imaging to evaluate normal and abnormal vertebrae in fetuses: A preliminary study	7
Two unrelated fetuses with ITPR1 missense variants and fetal hydrops	7
A framework for reporting secondary and incidental findings in prenatal sequencing: When and for whom?	7
Congenital small bowel obstruction: Prenatal detection and outcome	7
Prenatal Diagnosis of Congenital Paraesophageal Hernia With Gastric Volvulus and Postnatal FBN1 Mutation Confirmation	7
Antenatal diagnosis of chorioamnionitis: A review of the potential role of fetal and placental imaging	7
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	7
Prenatal diagnosis of vascular anomalies	7
Alterations in cardiac output in fetuses with congenital heart disease	7
A reasoned approach towards administering COVID‐19 vaccines to pregnant women	7
Has the Era of Individualized Intrauterine Treatment for Congenital Adrenal Hyperplasia Arrived?	7
Reproductive health in Turner syndrome: A narrative review	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
Fetal de novo heterozygous variant in the isocitrate dehydrogenase 1 gene associated with growth restriction, skeletal, cerebral and vascular anomalies	7
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	7
Fetal central nervous system anomalies: When should we offer exome sequencing?	7
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Navigating the Challenges of Exome Sequencing in Structurally Normal Fetuses	7

Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders	7
Increased use of diagnostic testing after increased nuchal translucency: The influence of non‐invasive prenatal testing and chromosomal microarray	7
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The fetal stomach throughout gestation: Normal charts and clinical implication	6
Exome‐based preconception carrier testing for consanguineous couples in China	6
Has the introduction of increased genetic prenatal testing affected rates of termination of pregnancy due to fetal abnormality?	6
Predictors of fetal death, neonatal survival and neurological outcomes in severe twin‐twin transfusion syndrome treated by laser ablation of placental vessels	6
Cell‐free DNA screening for fetal aneuploidy using the rolling circle method: A step towards non invasive prenatal testing simplification	6
Maternal cell contamination in postnatal umbilical cord blood samples implies a low risk for genetic misdiagnoses	6
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Development and validation of a novel fetal vesico‐amniotic shunt, the vortex shunt	6
Prenatal exome sequencing in fetuses with callosal anomalies	6
Post‐Abortem Detection of a Pathogenic Somatic PIK3CA‐Variant in an Abdominal Lymphangioma That Is Not Present in Cultured Amniotic Fluid Cells	6
Follow‐Up of Infants With Congenital Cytomegalovirus Following Maternal Primary Infection in the First Trimester and Normal Fetal Brain Imaging at Midgestation	6
Chromosomal Aberrations in Fetuses With Isolated Persistent Right Umbilical Vein—A Nationwide Study	6
Outstanding clinical and research questions in complex twin and multiple pregnancy	6
Non‐invasive prenatal testing in the management of twin pregnancies	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
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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
Do We Really Want to Go Fishing for Foetal CC Dysgenesis (Whatever This Means…)? Extreme Caution is Needed	6
Fetoscopic Release of Amniotic Bands Based on the Evidence—A Systematic Review	6
Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort	6
Whole Exome Sequencing in a Population of Fetuses With Structural Anomalies	6
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A novel ZIC3 mutation in a Chinese family with heterotaxy and multiple types of congenital heart defect	6
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Issues associated with possible implementation of Non‐Invasive Prenatal Testing (NIPT) in first‐tier screening: A rapid scoping review	6
Mammalian target of rapamycin inhibitors: A new‐possible approach for in‐utero medication therapy	6
The Fall Out of the 2017 European Medical Device Regulation for Tracheal Occlusion	6
Droplet digital PCR is a cost‐effective method for analyzing long cell‐free DNA in maternal plasma: Application in preeclampsia	6
Diagnosis of fetal total anomalous pulmonary venous connection based on the post‐left atrium space ratio using artificial intelligence	6
Have the results of the TOTAL‐trials changed the attitude and practice of maternal‐fetal medicine specialists?	5
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Non‐invasive prenatal testing (NIPT) in twin pregnancies affected by early single fetal demise: A systematic review of NIPT and vanishing twins	5
Cell‐Free DNA Results Indicating Mosaic Monosomy X of Likely Maternal Origin: Impact on Genetic Counseling Practices and Patient Experiences	5
The Association of Prenatal Alcohol Exposure With Brain Development During the First 1000 Days of Life: A Systematic Review	5
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Caudal regression in fetus with de novo SMARCA2 pathogenic variant	5
Presentation of ventriculomegaly at 11–14 weeks of gestation: An analysis of longitudinal data	5
Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series	5
Clinical Characteristics and Outcomes of Intrauterine Blood Transfusion (IUT) for Infectious Etiologies	5
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The Toronto nomogram: A Bayesian meta‐regression derived prenatal ultrasound index to predict lower urinary tract obstruction and prune belly syndrome	5
Anterior extension of the choroid plexus into the frontal horns of the fetal lateral cerebral ventricles: Prenatal findings and postnatal outcome	5
Prenatal cerebellar growth is altered in congenital diaphragmatic hernia on ultrasound	5
Clinicians’ attitudes towards parental choice in the era of advanced genomic tests in pregnancy	5
Congenital lymphocytic choriomeningitis virus: A review	5
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Comparing the Introduction and Implementation of Noninvasive Prenatal Testing (NIPT) in Japan, the Netherlands, and the United States: An Integrative Review	5
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Risk of Genetic Abnormality in Fetuses With Unilateral Versus Bilateral Pleural Effusions	5
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Increased nuchal translucency after low‐risk noninvasive prenatal testing: What should we tell prospective parents?	5
Outcome of monochorionic triamniotic triplet pregnancies: Expectant management versus fetal reduction	5
Microvillus inclusion disease with prenatal ultrasound findings and postpartum confirmed	5
Assessment of Learning Curve for Radiofrequency Ablation in Twin Reversed Arterial Perfusion Sequence: A Simulation Model Study	5
Computer‐assisted fetal laser surgery in the treatment of twin‐to‐twin transfusion syndrome: Recent trends and prospects	5
Test performance and clinical utility of expanded non‐invasive prenatal test: Experience on 71,883 unselected routine cases from one single center	5
Fetal agenesis of the septum pellucidum: Ultrasonic diagnosis and clinical significance	5
Maternal Vascular Malperfusion and Anatomic Cord Abnormalities Are Prevalent in Pregnancies With Fetal Congenital Heart Disease	5
Is there an increased risk of genetic abnormalities in fetuses with congenital heart disease in the setting of growth restriction?	5
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Investigation into the genetics of fetal congenital lymphatic anomalies	5
Ultrasound findings and detection of fetal abnormalities before 11 weeks of gestation	5
BinDel: Detecting Clinically Relevant Fetal Genomic Microdeletions Using Low‐Coverage Whole‐Genome Sequencing‐Based NIPT	4
Prenatal Diagnosed Agenesis of the Corpus Callosum: Identifying the Underlying Genetic Etiologies	4
Large scale population screening for Duchenne muscular dystrophy—Predictable and unpredictable challenges	4
Video Clip Extraction From Fetal Ultrasound Scans Using Artificial Intelligence to Allow Remote Second Expert Review for Congenital Heart Disease	4
Application of Genetic Origin Analysis of Copy Number Variations in Non‐Invasive Prenatal Testing	4
Prenatal isolated clubfoot increases the risk for clinically significant exome sequencing results	4
Utility of expanded carrier screening in pregnancies with ultrasound abnormalities	4
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Cx43 regulates mechanotransduction mechanisms in human preterm amniotic membrane defects	4
Complex multiple pregnancies: what's new?	4
High positive predictive value 22q11.2 microdeletion screening by prenatal cell‐free DNA testing that incorporates fetal fraction amplification	4
Foetal loss after chorionic villus sampling and amniocentesis in twin pregnancies: A multicentre retrospective cohort study	4
Extending the prenatal Noonan's phenotype by review of ultrasound and autopsy data	4
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype	4
Incidental Findings Identified by Prenatal Microarray Analysis and Consensus Reporting Criteria of the Catalan Public Health Network XIGENICS	4
Do first‐trimester screening algorithms for preeclampsia aligned to use of preventative therapies reduce the prevalence of pre‐term preeclampsia: A systematic review and meta‐analysis	4
Early and severe tricuspid valve dysplasia in a fetus with cardiospondylocarpofacial syndrome due to a variant c.616T>G p.(Tyr206Asp) in MAP3K7	4
An overview of reproductive carrier screening panels for autosomal recessive and/or X‐linked conditions: How much do we know?	4
Prenatal diagnosis of Myhre syndrome with a heterozygous pathogenic variant in SMAD4 gene presented with thick nuchal translucency and cardiac abnormalities	4
Optical Genome Mapping for Prenatal Diagnosis in Fetuses With Structural Anomalies	4
Commentary on: “Fetal Therapy for Severe Drug‐Resisted Tachyarrhythmia With Progressive Hydrops by Fetoscopic Transesophageal Pacing: A Successful Attempt in Single Chinese Fetal Medicine Center”	4
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Noninvasive twin genotyping for recessive monogenic disorders by relative haplotype dosage	4
Maternally inherited autosomal dominant PLAG‐1 related Silver Russell syndrome in a fetus with intra‐uterine growth restriction	4
Exome Sequencing in Fetuses With Bilateral Renal Agenesis Identified on Second Trimester Ultrasound: A Single Referral Center Experience	4
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All‐in‐one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence‐of‐heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1‐	4
Early‐Onset Macrosomia, Advanced Brain Maturation, and Gonadoblastoid Testicular Dysplasia in a Fetus With a PTEN Variant	4