Prenatal Diagnosis

Article	Citations
Antenatal findings and early postnatal outcomes in pregnancies with trisomy 21: a 10 year retrospective review at a tertiary centre	116
Twelve years of assessing the quality of preimplantation genetic testing for monogenic disorders	60
Left heart hypoplasia in the fetus: Echocardiographic predictors of outcome	52
Prenatal phenotype of Kabuki syndrome: A case series and literature review	49
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Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy	42
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Non‐invasive fetal genotyping for maternal alleles with droplet digital PCR: A comparative study of analytical approaches	29
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Prenatal diagnosis of congenital ventricular aneurysm and diverticulum: Prenatal features and perinatal management	26
Fetal hydrops caused by a novel pathogenic MECOM variant	26
Vertical transmission of SARS‐CoV2 during pregnancy: A high‐risk cohort	25
Fetal cerebral ventriculomegaly: What do we tell the prospective parents?	25
The first trimester: The new focal point for prenatal screening and diagnosis	24
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Prenatal intracranial hypotension syndrome in congenital cephalocele: Insights into pathophysiologic mechanisms and importance of defect coverage	23
Survival rates and outcomes of pregnancies with prenatal diagnosis of trisomy 18: A 16‐year experience from a public hospital in South Africa	23
Caution with noninvasive prenatal screening for single gene disorders: A case report of a COL1A1 variant in osteogenesis imperfecta	22
Poster abstracts of the ISPD 26th International Conference on Prenatal Diagnosis and Therapy, Montréal, Canada, 20–22 June 2022	22
The aorto‐left ventricular tunnel from a fetal perspective: Original case series and literature review	22
Calf circumferences in fetuses and neonates with and without talipes equinovares. A prospective cohort study	22
Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1‐ and NEB‐related congenital myopathies	21
Prenatal diagnosis of mucopolysaccharidosis type VII facilitating treatment in neonatal period	20
Response to the correspondence on “Performance of single‐gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting”	20

Improving prenatal diagnosis through standards and aggregation	19
Two unrelated fetuses with ITPR1 missense variants and fetal hydrops	19
Evaluation of umbilical venous flow volume measured using ultrasound compared to circuit flow volume in the EXTra‐uterine Environment for Neonatal Development (EXTEND) system in fetal sheep	18
Two cases of microvillus inclusion disease caused by MYO5B deficiency with prenatal abnormalities	18
Use of fetal tele‐echo at small regional hospitals increases the rate of prenatal diagnosis of congenital heart disease	17
Congenital heart anomalies in the first trimester: From screening to diagnosis	17
Prenatal chromosome microarray: ‘The UK experience’. A survey of reporting practices in UK genetic services (2012–2019)	16
The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction	16
Neonatal outcomes of congenital diaphragmatic hernia in full term versus early term deliveries: A systematic review and meta‐analysis	16
Diagnosis of fetal cortical abnormalities by new reference charts for assessment of sylvian fissure biometry	15
Prenatal diagnosis of Cornelia de Lange syndrome from 12 to 17 weeks' gestation	15
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Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the KLHL7 gene	15
Re‐evaluation of the predictive value of Quintero staging of twin‐twin transfusion syndrome for fetal death after fetoscopic laser photocoagulation	15
Dual demise following laser surgery for twin‐twin transfusion syndrome: Analysis of 52 cases at a single fetal surgery center	15
A comparison of the accuracy of fetal magnetic resonance imaging and ultrasonography for the diagnosis of fetal congenital malformations of the spine and spinal cord	15
Amniotic fluid‐derived stem cell potential for therapeutic and surgical use: A review of the literature	14
Prenatal work‐up, associated anomalies and postnatal outcomes of foetuses with 9–9.9 mm cerebral ventricular atria width	14
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A systematic review and meta‐analysis of cell‐free DNA testing for detection of fetal sex chromosome aneuploidy	14
Twin‐twin transfusion syndrome is associated with alterations in the metabolic profile of maternal plasma in early gestation: a pilot study	14
Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: An international cross‐sectional study with healthcare professionals	13
Prenatal exome sequencing in fetuses with callosal anomalies	13
Normal fetal development of the cervical, thoracic, and lumbar spine: A postmortem study based on magnetic resonance imaging	13
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Prenatal diagnosis of bilateral anophthalmia: Identifying de novo SOX2 variant	13
Challenges in providing residual risks in carrier testing	13
Apparent versus effective test performance: The importance of understanding and reviewing performance metrics	13
Outcomes of fetal lower urinary tract obstruction based on timing of oligohydramnios onset	12
A microfluidic platform for high‐purity cell free DNA extraction from plasma for non‐invasive prenatal testing	12
Prenatal diagnosis and treatment for fetal angiotensin converting enzyme deficiency	12
Remote hands‐on training with a novel “video‐game” simulator for teaching fetoscopic laser techniques for ablation of placental anastomoses in twin‐to‐twin syndrome	12
Development and in‐vitro characterization of a novel fetal vesicoamniotic shunt – The Vortex shunt	12
Perinatal outcome of twin‐to‐twin transfusion syndrome complicated with incidental septostomy after laser photocoagulation: A systematic review and meta‐analysis	11
Prenatal detection of mosaicism for a genome wide uniparental disomy cell line in a cohort of patients: Implications and outcomes	11
Susceptibility‐weighted imaging to evaluate normal and abnormal vertebrae in fetuses: A preliminary study	11
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Micro‐CT and high‐field MRI for studying very early post‐mortem human fetal anatomy at 8 weeks of gestation	11
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Prenatal diagnosis with chromosome microarray and pregnancy outcomes of fetuses with biliary tract system abnormalities	11
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Learning curve for fetal postmortem ultrasound	11
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	11
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Connecting the dots: Carrier screening and the Genetic Information Nondiscrimination Act in the United States	10
Gestational age at birth and outcome in monochorionic twins with different types of selective fetal growth restriction: A systematic literature review	10
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Customizing carrier screening in the Chinese population: Insights from a 334‐gene panel	10
Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects	10
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Noninvasive prenatal testing: Advancing through a virtuous circle of science, technology and clinical applications	10
SNPscan Combined With CNVplex as a High‐Performance Diagnostic Method for Thalassemia	10
Timing of diagnosis of fetal structural abnormalities after the introduction of universal cell‐free DNA in the absence of first‐trimester anatomical screening	10
Understanding the experiences and perspectives of prenatal screening among a diverse cohort	10
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Presence of fetal DNA in maternal exhaled breath condensate	10
Concurrent maternal malignancy and fetal trisomy detected using genome‐wide noninvasive prenatal screening	9
Clinician‐reported chorionicity and zygosity assignment using single‐nucleotide polymorphism‐based cell‐free DNA: Lessons learned from 55,344 twin pregnancies	9
National registry of thoracoamniotic shunting using a double‐basket catheter: A post‐marketing surveillance registry of 295 patients with fetal hydrothorax	9
Circulating trophoblast numbers as a potential marker for pregnancy complications	9
Genome‐wide abnormalities in embryos: Origins and clinical consequences	9
Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines	9
Prenatal exome sequencing for morphologically normal fetus: Should we be doing it?	9
Novel variant in ACTA1 identified in a fetus with akinesia deformation sequence and cortical development delay	9
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Poster Abstracts of the ISPD 27th International Conference on Prenatal Diagnosis and Therapy, Edinburgh, United Kingdom, 19–21 June 2023	9
Fetal cardiac teratoma and pericardiocentesis: A case report	9
Delivery room and early postnatal management of neonates with congenital heart disease	9
Prognostic accuracy of factors associated with poor outcome in prenatally diagnosed sacrococcygeal teratoma: A systematic review and meta‐analysis	8
Prenatal diagnosis and postnatal management of congenital mesoblastic nephroma: Experience at a single center in China	8
Alterations in cardiac output in fetuses with congenital heart disease	8
Isolation of single circulating trophoblasts from maternal circulation for noninvasive fetal copy number variant profiling	8
Postnatal outcome of children with antenatal colonic hyperechogenicity	8
Prenatal diagnosis of sex chromosome aneuploidy—What do we tell the prospective parents?	8
Agenesis of the corpus callosum: What to tell expecting parents?	8
Does an educational video for aneuploidy screening improve informed choice among pregnant women? A randomised controlled trial	8
Disparities in the acceptance of chromosomal microarray at the time of prenatal genetic diagnosis	8
Origins and mechanisms leading to aneuploidy in human eggs	8
Further exploration of cardiac channelopathy and cardiomyopathy genes in stillbirth	8
Motion corrected fetal body magnetic resonance imaging provides reliable 3D lung volumes in normal and abnormal fetuses	8
Noninvasive screening for congenital heart defects using a serum metabolomics approach	8
Different expressions of cardiac biomarkers between different types of acquired right ventricular outflow tract abnormality in monochorionic twins	8
Follow‐Up of Infants With Congenital Cytomegalovirus Following Maternal Primary Infection in the First Trimester and Normal Fetal Brain Imaging at Midgestation	8
S100B in maternal circulation of pregnancies complicated by FGR and brain sparing	8
Likely pathogenic variant in the BICD2 gene in fetus presenting with non‐immune hydrops	8
Prenatal magnetic resonance imaging of complex female genitourinary system abnormalities, what the fetal medicine specialist needs to know	8
Prenatal molecular testing and diagnosis of Beckwith‐Wiedemann syndrome	8
Perinatal Outcomes in Appropriately Grown Monochorionic Diamniotic Twins With Intermittent Absent and Reversed End‐Diastolic Umbilical Artery Flow Compared to Selective Fetal Growth Restriction Type I	8
What women want: General population perspectives and access to preconception expanded carrier screening	8
Uptake rate of carrier screening among consanguineous couples	7
Fetoscopic Release of Amniotic Bands Based on the Evidence—A Systematic Review	7
Triplet pregnancy: What do we tell the prospective parents	7
Prenatal diagnosis of generalized arterial calcification of infancy in the second trimester	7
Noninvasive prenatal testing of Duchenne muscular dystrophy in a twin gestation	7
High‐Resolution Haplotyping of the PAH Gene Enables Early Gestation Noninvasive Prenatal Diagnosis of Phenylketonuria and Evolution Analysis of Recurrent Pathogenic Variations	7
A reasoned approach towards administering COVID‐19 vaccines to pregnant women	7
Prenatal Phenotypic Analysis of Branchio‐Oto‐Renal Spectrum Disorder Attributable to EYA1 Gene Pathogenic Variants and Systematic Literature Review	7
Management of fetal head and neck masses: Evaluation of prenatal factors associated with airway obstruction and decision for definitive airway and ex‐utero intrapartum treatment at birth	7
Association between low fetal fraction in cell‐free DNA testing and adverse pregnancy outcome: A systematic review	7
Diagnostic yield of genome sequencing for prenatal diagnosis of fetal structural anomalies	7
Low fetal fraction in cell‐free DNA testing is associated with adverse pregnancy outcome: Analysis of a subcohort of the TRIDENT‐2 study	7
Heterozygous Beta‐Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions	7
Identification of micrognathia by prenatal ultrasound may improve timely diagnosis and management of infants with Robin sequence	7
Parental or Trio Magnetic Resonance Imaging to Improve Prenatal Counseling in Brain Anomalies	7
Predictive Indicators and Outcomes of Pregnancies Affected by Stage I Twin–Twin Transfusion Syndrome Treated With Fetoscopic Laser Photocoagulation	7
Inconsistencies between prenatal diagnostic and genetic testing laboratories on variant validation of rare monogenic diseases	7
Non‐invasive prenatal test uptake in socioeconomically disadvantaged neighborhoods	7
Diagnosis of fetal total anomalous pulmonary venous connection based on the post‐left atrium space ratio using artificial intelligence	7
Consequences of imprecision in fetal fraction estimation on performance of cell‐free DNA screening for Down syndrome	7
Receiving uncertain results from prenatal chromosomal microarray analysis: Women's decisions on continuation or termination of pregnancy	7
The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound Anomalies	7
Response to: Prenatal Diagnosis and Postnatal Outcome of Closed Spinal Dysraphism, by Bedei et al.	6
Do We Really Want to Go Fishing for Foetal CC Dysgenesis (Whatever This Means…)? Extreme Caution is Needed	6
Idiopathic polyhydramnios and postnatal outcomes of children: The role of exome sequencing	6
Expanded carrier screening: What conditions should we screen for?	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
Maternal MTHFR 677C>T, 1298A>C gene polymorphisms and risk of offspring aneuploidy	6
Reply to: Addressing expectations of therapeutic options for children with hydrocephalus—A comment on “Fetal Cerebral Ventriculomegaly. What do we tell the prospective parents?”	6
Asian Screening Array and Next‐Generation Sequencing Based Panels Applied to Preimplantation Genetic Testing for Monogenic Disorders Preclinical Workup in 294 Families: A Retrospective Analysis	6
Parental Somatic Mosaicism Detected During Prenatal Diagnosis	6
Fetal Presentation of MYRF‐Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis	6
Response to Correspondence: “Do We Really Want to Go Fishing for Fetal CC Dysgenesis (Whatever This Means…)? Extreme Caution is Needed”	6
Retrospective identification of prenatal fetal anomalies associated with diagnostic neonatal genomic sequencing results	6
Fetal phenotypes of Mendelian disorders: A descriptive study from India	6
The clinical impact of the first‐trimester nuchal translucency between the 95th–99th percentiles	6
When a pregnant patient is not the mother: Language use in studies on gestational surrogacy—A reply to “fetal mitochondrial deoxyribonucleic acid in maternal plasma in surrogate pregnancies: Detection	6
Use of preimplantation genetic testing for monogenic disorders and subsequent prenatal care and diagnostic testing	6
Antenatal management of congenital diaphragmatic hernia: What's next ?	6
Post‐Abortem Detection of a Pathogenic Somatic PIK3CA‐Variant in an Abdominal Lymphangioma That Is Not Present in Cultured Amniotic Fluid Cells	6

Maternal cell contamination in postnatal umbilical cord blood samples implies a low risk for genetic misdiagnoses	6
Imaging and outcomes of fetal adrenal hemorrhage: A systematic review	6
The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencing	6
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The effect of maternal polycyclic aromatic hydrocarbons exposure and methylation levels of congenital heart diseases‐candidate genes on the risk of congenital heart diseases	5
Agenesis of the Ductus Venosus and Its Association With Genetic Abnormalities	5
A rare case of isolated right atrial enlargement and TBX5 mutation associated with Holt–Oram syndrome	5
Droplet digital PCR is a cost‐effective method for analyzing long cell‐free DNA in maternal plasma: Application in preeclampsia	5
The impact of the emergence of COVID‐19 on women's prenatal genetic testing decisions	5
IVF embryo choices and pregnancy outcomes	5
‘Something that helped the whole picture’: Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service	5
Oral Abstracts of the ISPD 27th International Conference on Prenatal Diagnosis and Therapy, Edinburgh, United Kingdom, 19–21 June 2023	5
Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)	5
Association of right aortic arch and agenesis of ductus arteriosus in prenatal tetralogy of Fallot spectrum and its clinical implications	5
Improving the accuracy of noninvasive prenatal testing through size‐selection between fetal and maternal cfDNA	5
Issues associated with possible implementation of Non‐Invasive Prenatal Testing (NIPT) in first‐tier screening: A rapid scoping review	5
Piloting a multidisciplinary approach to improve outcomes of fetal whole exome sequencing: An overview of workflow and case example	5
Successful antenatal treatment of MAGED2‐related Bartter syndrome and review of treatment options and efficacy	5
Preterm membranes are mechanically more resistant than term membranes	5
Fetal intestinal loop dilatation: Follow‐up and outcome of a series of 133 consecutive cases (the DILDIG study)	5
Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome	5
Views of reproductive genetic carrier screening participants regarding screening for genes associated with non‐syndromic hearing loss	5
Transplacental non‐steroidal anti‐inflammatory drugs versus expectant management in fetal Ebstein anomaly with circular shunt: Systematic review and meta‐analysis	5
Development of standard definitions and grading for Maternal and Fetal Adverse Event Terminology	5
Impact of middle cerebral artery pulsatility index on donor survival in twin‐twin transfusion syndrome	5
Prenatal characterization of novel neurosonographic findings in a fetus with SOTOS syndrome	5
Fetally‐injected drugs for immobilization and analgesia do not modify fetal brain development in a rabbit model	5
Maternal metabolomic profiling and congenital heart disease risk in offspring: A systematic review of observational studies	5
The bright future of fetal cardiology	5
Prediction of neonatal survival according to lung‐to‐head ratio in fetuses with right congenital diaphragmatic hernia (CDH): A multicentre study from the Latin American CDH Study Group registry	5
Technically successful fetal aortic valvuloplasty acutely improves left heart output	5
Lung proliferation is dependent on the duration not the timepoint of tracheal occlusion in nitrofen rats with diaphragmatic hernia	5
The role of fetal echocardiogram after detection of extracardiac anomalies in utero (fetal echocardiogram for extracardiac malformations)	5
Prenatal diagnosis of fetal ectopia cordis by fetal cardiovascular magnetic resonance imaging	5
Ethical reflections on organizing the first human trial of artificial womb technologies	5
The fetal stomach throughout gestation: Normal charts and clinical implication	5
Prenatal detection rates for congenital heart disease using abnormal obstetrical screening ultrasound alone as indication for fetal echocardiography	5
The prognosis of common arterial trunk from a fetal perspective: A prenatal cohort study and systematic literature review	5
Development and validation of a novel fetal vesico‐amniotic shunt, the vortex shunt	5
Highlights of the 27th ISPD annual conference hosted in the historic and atmospheric city of Edinburgh	5
Hemodynamic and anatomic changes after fetal aortic valvuloplasty are associated with procedural success and postnatal biventricular circulation	5
Non‐invasive prenatal testing suggesting a maternal malignancy: What do we tell the prospective parents in Belgium?	5
When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta‐analysis	5
Aberrant Fetal Brain Sulcus Formation: A Clue to the Diagnosis of Sotos Syndrome	5
Cardiac adaptation and malformation in twin–twin transfusion syndrome and selective fetal growth restriction: A systematic review	5
Interrater agreement for sonographic stomach position classification in fetal diaphragmatic hernia across the North American Fetal Therapy Network	5
Ultrasound visualization of the central nervous system during embryonic and fetal periods: Neurosonoembryology utilizing multiple three‐dimensional transvaginal ultrasound technology	5
Prenatal bone abnormalities in three cases of familial hypocalciuric hypercalcemia	5
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Prenatal diagnosis and postnatal outcome of closed spinal dysraphism	4
Prenatal Diagnosis of ACTG2 Visceral Myopathy Presented With Fetal Megacystis Identified in the Second Trimester	4
Whole Exome Sequencing in a Population of Fetuses With Structural Anomalies	4
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Prenatal diagnosis of ROR‐2 related Robinow syndrome presenting with fetal ultrasound findings of mesomelia, vertebral, digital and genital abnormalities	4
Impact of fetal endoscopic tracheal occlusion in fetuses with congenital diaphragmatic hernia and moderate lung hypoplasia	4
Cell‐free DNA methylation‐based preeclampsia prediction: A journey to improve maternal health	4
Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis	4
Impact of replacing or adding placental growth factor on Down syndrome screening: A prospective cohort study	4
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Implementation of non‐invasive prenatal testing within a national UK antenatal screening programme: Impact on women's choices	4
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Being born with a single cardiac ventricle: What do we tell prospective parents	4
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Unbalanced X;Y translocations carrying SRY in prenatal settings: Clinical, molecular, and cytogenetic analysis of three cases	4
Confronting the Taboo of Multifetal Pregnancy Reduction: A Qualitative Study of Maternal Decision‐Making in Triplet Pregnancies	4
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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Fetal and neonatal abnormalities due to congenital syphilis: A literature review	4
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Cell‐free DNA screening for fetal aneuploidy using the rolling circle method: A step towards non invasive prenatal testing simplification	4
Performance of cell‐free DNA testing for common fetal trisomies in triplet pregnancies	4
Ultrasound‐based radiomics for the evaluation of fetal rat lung maturity: A noninvasive assessment method (Ultrasound‐based radiomics in fetal rat lung)	4
Practice patterns of prenatal and perinatal testing in Canadian cytogenetics laboratories	4
How Useful is Nuchal Translucency in Detecting Chromosomal Abnormalities Missed by Genome‐Wide NIPT and What Measurement Threshold Should Be Used?	4
Termination of pregnancy after a prenatal diagnosis of congenital diaphragmatic hernia: Factors influencing the parental decision process	4
Prenatal diagnosis of Hartsfield syndrome with a novel genetic variant	4
Postmortem imaging of fetuses at early gestations: A comparison of microfocus computed tomography with postmortem magnetic resonance at 9.4 T and postmortem ultrasound	4
Prescriptive standards of echocardiographic morphometric and functional parameters in uncomplicated monochorionic diamniotic fetuses	4
Isolated fetal umbilical vein varix and the association with intrauterine fetal death and fetal growth restriction: A systematic review, meta‐analysis, and nested retrospective cohort study	4
Combined exome sequencing and deep phenotyping in highly selected fetuses with skeletal dysplasia during the first and second trimesters improves diagnostic yield	4
Prenatal Ultrasound in the Diagnosis of Anorectal Malformations: Correlating Prenatal Signs With Postnatal Outcomes	4
Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharing	4
Addressing expectations of therapeutic options for children with hydrocephalus—A comment on “Fetal Cerebral Ventriculomegaly. What do we tell the prospective parents?”	4
Utility of chromosomal microarray analysis for the exploration of isolated and severe fetal growth restriction diagnosed before 24 weeks' gestation	4
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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	4
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Mammalian target of rapamycin inhibitors: A new‐possible approach for in‐utero medication therapy	4
The impact of maternal and geographical factors on the uptake of non‐invasive prenatal testing: A retrospective cohort study	4
Predictors of fetal death, neonatal survival and neurological outcomes in severe twin‐twin transfusion syndrome treated by laser ablation of placental vessels	4
Highlights of the 26th ISPD annual conference, hosted in a vibrant Canadian city along with the Montreal grand prix 2022	4
A novel ZIC3 mutation in a Chinese family with heterotaxy and multiple types of congenital heart defect	4
Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype	4
Cerebro‐placental and umbilico‐cerebral ratios in uncomplicated monochorionic twins: Longitudinal references and comparison with singletons	4