7,260 results match your criteria Prenatal Diagnosis [Journal]


Prenatal imaging throughout gestation in Beckwith-Wiedemann syndrome.

Prenat Diagn 2019 Feb 19. Epub 2019 Feb 19.

Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115.

Purpose: Prenatal occurrence and timing of appearance of associated features in Beckwith-Wiedemann syndrome (BWS) are unknown. We reviewed our BWS patients with serial fetal imaging and correlated these with postnatal findings.

Methods: All BWS patients with fetal US or MRI from 2000 to 2016 were reviewed to determine the presence of polyhydramnios, placentamegaly, macrosomia, macroglossia, retrognathia, omphalocele, visceromegaly, and hemihypertrophy. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5440DOI Listing
February 2019

Prenatal diagnosis of Fragile X syndrome: small meiotic recombination events at the FMR1 locus.

Prenat Diagn 2019 Feb 18. Epub 2019 Feb 18.

Service de Génétique, CHRU de Tours, UMR 1253, iBrain, Université de Tours, Inserm, Tours, France.

Objective: Fragile X syndrome (FXS), the most common inherited cause of intellectual disability, is caused by an expansion over 200 CGG repeats (full mutation) in the FMR1 gene. Intergenerational instability of an expanded FMR1 allele is linked to the carrier's gender (female), the CGG repeat size and the number of AGG interspersions within the CGG repeat, making genetic counseling a complex task. The objective of our work was to emphasize the importance of combining haplotype analysis with FMR1 linked markers and CGG repeat sizing for prenatal diagnosis (PND) of FXS. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5439DOI Listing
February 2019

Ensuring high standards for the delivery of NIPT world-wide: Development of an international external quality assessment scheme.

Prenat Diagn 2019 Feb 14. Epub 2019 Feb 14.

CEQAS/GenQA, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU.

Objective: To ensure accurate and appropriate reporting of non-invasive prenatal testing (NIPT) results, the standard of testing should be measured and monitored by participation in external quality assessment (EQA) schemes. The findings from international pilot EQAs for NIPT for the common trisomies are presented.

Methods: In the first pilot, three EQA providers used artificially manufactured reference materials to deliver an EQA for NIPT. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5438DOI Listing
February 2019

Expanded carrier screening for autosomal recessive conditions in health care: Arguments for a couple-based approach and examination of couples' views.

Prenat Diagn 2019 Feb 12. Epub 2019 Feb 12.

Department of Health Psychology, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700, RB, Groningen, The Netherlands.

Background: Expanded carrier screening (ECS) is aimed at detecting carrier states for autosomal recessive (AR) or X-linked conditions in couples from the general population planning a pregnancy. ECS is currently usually offered on an individual basis despite the fact that, for AR conditions, only carrier couples are at risk of affected offspring. In this paper we present a couple-based ECS test-offer for AR conditions, where results are offered as couple-results only, and describe how couples view such an offer. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5437DOI Listing
February 2019

Effects of medication intake in early pregnancy on the fetal fraction of cell-free DNA testing.

Prenat Diagn 2019 Feb 10. Epub 2019 Feb 10.

Department of Obstetrics and Gynecology, The University of Texas Medical Branch at Galveston, Galveston, TX.

Objectives: To determine the association between medications intake in early pregnancy and variation in the fetal fraction (FF) in pregnant women undergoing cell-free DNA (cfDNA) testing.

Methods: We performed a retrospective cohort study of women (n=1,051) undergoing cfDNA testing at an academic center. The exposed group included women taking medications (n=400; 38. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5436DOI Listing
February 2019

The utilization of prenatal microarray: A survey of current genetic counseling practices and barriers.

Prenat Diagn 2019 Feb 8. Epub 2019 Feb 8.

The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Houston, Texas.

Objective: We evaluated what prenatal genetic counselor's (GCs) practices, attitudes, and barriers are in regards to prenatal microarray since the publication of the ACOG and SMFM guidelines for microarray use.

Methods: This was a survey based cross-sectional study of English-speaking, board certified or eligible genetic counselors who currently practice prenatal genetic counseling.

Results: Of 192 respondents, 183 (95%) have incorporated CMA into clinical practice with 64% believing that the benefits of CMA outweigh the harms, and 52% agreeing that CMA should be offered to all women regardless of indication. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5435DOI Listing
February 2019

Effects of platforms, size filter cutoffs, and targeted regions of cytogenomic microarray on detection of copy number variants and uniparental disomy in prenatal diagnosis: Results from 5026 pregnancies.

Prenat Diagn 2019 Feb 8. Epub 2019 Feb 8.

Cytogenetics and Genomics, Quest Diagnostics Nichols Institute, San Juan Capistrano, California.

Objective: We evaluated the effects of platforms, size filter cutoffs, and targeted regions of cytogenomic microarray (CMA) on the detection of copy number variants (CNVs) and uniparental disomy (UPD) in prenatal diagnosis.

Methods: Five thousand twenty-six consecutive prenatal specimens (>98% high-risk pregnancy) were studied by high-resolution CMA, with cutoffs of 50 kb for losses and 200 kb for gains in nontargeted regions and 20 kb for losses and 100 kb for gains in targeted regions. We assessed actual detection rates using the current assay as well as hypothetical detection rates using platforms with the same or lower resolution and smaller or larger cutoffs. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5375DOI Listing
February 2019
1 Read

The uptake of pan-ethnic expanded carrier screening is higher when offered during preconception or early prenatal genetic counseling.

Prenat Diagn 2019 Feb 7. Epub 2019 Feb 7.

Department of Obstetrics and Gynecology, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.

Objective: To examine factors that influence uptake of expanded carrier screening (ECS) among women undergoing preconception and prenatal genetic counseling.

Methods: We retrospectively reviewed 500 medical records from women with prenatal or preconception genetic counseling at a prenatal genetic counseling service. We tabulated acceptance of ECS by indication for genetic counseling along with demographic and pregnancy-related factors. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5434DOI Listing
February 2019
1 Read

Spina bifida screening in the first trimester using ultrasound biparietal diameter measurement adjusted for crown-rump length or abdominal circumference.

Prenat Diagn 2019 Feb 5. Epub 2019 Feb 5.

Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, USA.

Objective: Compare the performance of first trimester ultrasound biparietal diameter (BPD) screening for open spina bifida (OSB) when BPD is adjusted for crown-rump length (CRL) or abdominal circumference (AC).

Methods: For 63 OSB and 24,265 unaffected pregnancies, BPD was expressed as multiple of the normal median (MoM) based on CRL and on AC, and as the ratio BPD/AC. Screening performance was assessed by the Mahalanobis distance, the observed detection rate with normal 5 and 10 percentile cut-offs and the area under the receiver-operator characteristic curve (AUC). Read More

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1002/pd.5433
Publisher Site
http://dx.doi.org/10.1002/pd.5433DOI Listing
February 2019
2 Reads

Variants in the 5'-UTR of APELA gene in women with preeclampsia.

Prenat Diagn 2019 Feb 4. Epub 2019 Feb 4.

Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China.

Objective: To detect APELA gene variants in clinical cases with preeclampsia (PE) and evaluate the influence of the APELA variants in gene expression.

Method: A total of 288 individuals suffering from PE and 384 unaffected individuals were chosen for case-control studies. Genomic DNA was extracted from peripheral blood. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5431DOI Listing
February 2019
2 Reads
2.514 Impact Factor

Fetal MRI findings in a retrospective cohort of 26 cases of prenatally diagnosed charge syndrome individuals.

Prenat Diagn 2019 Feb 4. Epub 2019 Feb 4.

Service de Radiologie, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris (APHP), France.

"CHARGE syndrome" (CS) is a multifaceted syndrome associated with a poor prognosis. The prenatal diagnosis remains challenging especially as the fetal anomalies that may evoke suspicion of CS are not comprehensively described.

Objective: This study aims to identify the anomalies in MRI with suspected CHARGE syndrome and to propose a possible standardization in the image-based prenatal diagnosis of CS. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5429DOI Listing
February 2019

Cervical lymphatic malformations: Prenatal characteristics and ex-utero intrapartum treatment.

Prenat Diagn 2019 Feb 1. Epub 2019 Feb 1.

Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Baylor College of Medicine and Texas Children's Hospital, Houston, TX.

Background: The Ex-Utero Intrapartum Treatment (EXIT) is utilized to transition fetuses with prenatally diagnosed airway obstruction to postnatal life. We describe the unique clinical course, diagnosis, treatment and outcomes of patients with cervical lymphatic malformation (CLM) managed with EXIT.

Methods: Review of fetuses with diagnosed CLM delivered by EXIT (2001-2018) in a tertiary referral fetal center. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5428DOI Listing
February 2019
1 Read

Maternal complications following open and fetoscopic fetal surgery: A systematic review and meta-analysis.

Prenat Diagn 2019 Jan 31. Epub 2019 Jan 31.

Institute for Women's Health, University College London, London, UK.

Objective: To establish maternal complication rates for fetoscopic or open fetal surgery.

Methods: We conducted a systematic literature review for studies of fetoscopic or open fetal surgery performed since 1990, recording maternal complications during fetal surgery, the remainder of pregnancy, delivery and after the index pregnancy.

Results: One hundred and sixty-six studies were included, reporting outcomes for open fetal (n=1193 patients) and fetoscopic surgery (n=9403 patients). Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/pd.5421
Publisher Site
http://dx.doi.org/10.1002/pd.5421DOI Listing
January 2019
8 Reads

Characteristics of referred patients with twin-twin transfusion syndrome who did not undergo fetal therapy.

Prenat Diagn 2019 Jan 30. Epub 2019 Jan 30.

Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California.

Introduction: Abundant research has reported twin-twin transfusion syndrome (TTTS) outcomes following fetal therapy. Our research describes TTTS patients who did not undergo fetal therapy.

Methods: Records from TTTS pregnancies evaluated at 16 to 26 gestational weeks were reviewed between January 2006 and March 2017. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/pd.5427
Publisher Site
http://dx.doi.org/10.1002/pd.5427DOI Listing
January 2019
4 Reads

Impact of fetal brain ultrasound tutor smartphone application on normal anatomy learning.

Prenat Diagn 2019 Jan 30. Epub 2019 Jan 30.

Department of Medicine and Surgery, Unit of Surgical Sciences, Obstetrics and Gynecology, University of Parma, Parma, Italy.

Objective: The "Fetal Brain Tutor 4us" (FBTApp) is a recently developed application for interactive multiplanar navigation through the normal fetal brain. The purpose of this work was to assess its impact on normal anatomy learning.

Methods: A multiple-choice quiz (MCQ) was administered to first-year resident doctors in Obstetrics and Gynecology in two separate sessions, before and 2 weeks after downloading the FBTApp. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5426DOI Listing
January 2019

A survey of current clinical practice of chorionic villus sampling.

Prenat Diagn 2019 Jan 25. Epub 2019 Jan 25.

Fetal Medicine Unit, Department of Obstetrics and Gynaecology, St George's University Hospitals NHS Foundation Trust, London, UK.

Objective: The number of invasive procedures (chorionic villus sampling (CVS) or amniocentesis) for fetal testing is decreasing because of the availability of non-invasive prenatal test (NIPT) leading to a centralisation of prenatal diagnostic services to accredited fetal medicine centres. A new survey was conducted 10 years after the previous one to update the current clinical practice among clinicians who regularly perform CVS.

Method: Consultants from 32 centres in the United Kingdom were invited to take part in an online survey evaluating: The total number of CVS procedures carried out in the unit in a typical week, the preferred route (transabdominal [TA] vs transcervical [TC]), technique (use of local anaesthetic [LA] and needle technique). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5425DOI Listing
January 2019
1 Read

Forty-five consecutive cases of complicated monochorionic multiple pregnancy treated with microwave ablation: A single-center experience.

Prenat Diagn 2019 Jan 24. Epub 2019 Jan 24.

Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China.

Objective: To describe our preliminary experience in the application of microwave ablation for selective fetal reduction in complicated monochorionic multiple pregnancies.

Methods: In this prospective study, 45 consecutive complicated monochorionic multiple pregnancies that underwent microwave ablation for selective fetal reduction from July 2015 to February 2017 were analyzed from the first case onward. All patients were managed at the Peking University Third Hospital in Beijing, China. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/pd.5423
Publisher Site
http://dx.doi.org/10.1002/pd.5423DOI Listing
January 2019
7 Reads

Are all chromosome microarrays the same? What clinicians need to know.

Prenat Diagn 2019 Jan 23. Epub 2019 Jan 23.

Hematology Global Marketing, Beckman Coulter Diagnostics, Miami, FL.

Microarray testing is the recommended first-tier diagnostic test for women who undergo invasive prenatal diagnostic procedures. It is well-established that microarray analysis provides information regarding copy number for changes (or copy number variants, CNVs) that may be below the resolution level of standard chromosome analysis, and that such CNVs are not related to maternal age. What may not be appreciated by ordering providers, however, are the technical differences among laboratories with respect to the established laboratory cutoff values for reporting, the definition of targeted versus nontargeted regions, and how these differences may affect the interpretation and reporting of findings which, in turn, affects counseling and possible follow-up testing of family members. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5422DOI Listing
January 2019
1 Read

Comment on "noninvasive prenatal test for FGFR3-related skeletal dysplasia based on next-generation sequencing and plasma cell-free DNA: Test performance analysis and feasibility exploration".

Prenat Diagn 2019 Jan 16;39(2):133. Epub 2019 Jan 16.

Perinatal and Maternal Center of Saitama Medical Center, Jichi Medical University, Saitama, Japan.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/pd.5380
Publisher Site
http://dx.doi.org/10.1002/pd.5380DOI Listing
January 2019
6 Reads
2.514 Impact Factor

Chromosomal microarray analysis in fetuses with congenital anomalies of the kidney and urinary tract: A prospective cohort study and meta-analysis.

Prenat Diagn 2019 Jan 16. Epub 2019 Jan 16.

Institute of Embryo-Fetal Original Adult Disease, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Objective: To evaluate the usefulness and incremental diagnostic yield of chromosomal microarray analysis (CMA) compared with standard karyotyping in fetuses with congenital anomalies of the kidney and urinary tract (CAKUT).

Methods: A prospective cohort study and systematic review of the literature were conducted. In the prospective cohort study, 123 fetuses with CAKUT, as detected by prenatal ultrasound at our center, were enrolled and evaluated using karyotyping and CMA. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5420DOI Listing
January 2019
2 Reads
2.514 Impact Factor

Prenatal detection of isolated bilateral hyperechogenic kidneys: Etiologies and outcomes.

Prenat Diagn 2019 Jan 16. Epub 2019 Jan 16.

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.

Objectives: To delineate the etiology and outcome of prenatally diagnosed isolated bilateral hyperechogenic kidneys (IBHK).

Study Design: Pregnancies with IBHK on prenatal ultrasound identified and followed by us between January 1, 2000 and January 1, 2015 were evaluated regarding the etiology and outcome by evaluation of family history, targeted AR-PKD and AD-PKD DNA analysis, and microarray analysis, according to renal size and amniotic fluid volume.

Results: Of the 52 identified cases, there were 34 cases with enlarged kidneys, 16 with normal size kidneys, and two with small kidneys. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/pd.5418
Publisher Site
http://dx.doi.org/10.1002/pd.5418DOI Listing
January 2019
5 Reads

The best cutoff value of middle cerebral artery peak systolic velocity for the diagnosis of fetal homozygous alpha thalassemia-1 disease.

Prenat Diagn 2019 Jan 16. Epub 2019 Jan 16.

Maternal Fetal Medicine Unit, Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.

Objective: To determine the best cutoff value of middle cerebral artery peak systolic velocity (MCA-PSV) for the diagnosis of fetuses with homozygous alpha thalassemia-1 disease.

Methods: Pregnancies at risk for fetal homozygous alpha thalassemia-1 disease at 18 to 22 weeks were recruited. MCA-PSV was measured before cordocentesis for hemoglobin typing and complete blood count. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5419DOI Listing
January 2019
2 Reads

The price of abandoning diagnostic testing for cell free fetal DNA screening.

Prenat Diagn 2019 Jan 13;39(2):131-132. Epub 2019 Jan 13.

Department of Obstetrics and Gynecology, Columbia University College of Physicians and Surgeons, New York, NY, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5405DOI Listing
January 2019
1 Read

Comment on "The price of abandoning diagnostics testing for cell-free fetal DNA screening".

Prenat Diagn 2019 Jan 13;39(2):130. Epub 2019 Jan 13.

Department of Economics, Harvard University, Cambridge, Massachusetts.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5331DOI Listing
January 2019
1 Read

Three-dimensional virtual traveling navigation and three-dimensional printing models of a normal fetal heart using ultrasonography data.

Prenat Diagn 2019 Jan 12. Epub 2019 Jan 12.

Department of Obstetrics, Paulista School of Medicine, Federal University of São Paulo (EPM-UNIFESP), São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5417DOI Listing
January 2019
1 Read

Noninvasive screening by cell-free DNA for 22q11.2 deletion: Benefits, limitations, and challenges.

Prenat Diagn 2019 Jan 10;39(2):70-80. Epub 2019 Jan 10.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, NY, USA.

Cell-free DNA (cfDNA) testing for fetal aneuploidy is one of the most important technical advances in prenatal care. Additional chromosome targets beyond common aneuploidies, including the 22q11.2 microdeletion, are now available because of this clinical testing technology. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5391DOI Listing
January 2019
1 Read

Reproducibility of fetal lung-to-head ratio in left diaphragmatic hernia across the North American Fetal Therapy Network (NAFTNet).

Prenat Diagn 2019 Jan 7. Epub 2019 Jan 7.

Division of Maternal-Fetal Medicine, Department of Obstetrics & Gynecology, Mayo Clinic College of Medicine, Rochester, MN, USA.

Objective: To determine the antenatal sonographic lung area measurement method in left congenital diaphragmatic hernia (CDH) with the highest interrater agreement among North American Fetal Therapy Network (NAFTNet) centers within and outside the fetoscopic tracheal occlusion (FETO) consortium and in comparison with a European "expert" reviewer (ER).

Methods: Nineteen members from nine FETO consortium centers and 29 reviewers from 17 non-FETO centers reviewed ultrasound clips of the chest from 13 fetuses with isolated left CDH and were asked to select a static plane for lung area measurement using anteroposterior (AP), longest, and trace methods. Interrater agreement in lung area measurements was determined using intraclass correlation coefficient (ICC). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5413DOI Listing
January 2019
2 Reads
2.514 Impact Factor

Evaluation of the post-LA space index in the normal fetus.

Prenat Diagn 2019 Jan 7. Epub 2019 Jan 7.

Department of Obstetrics and Gynecology, Taniguchi Hospital, Osaka, Japan.

Objective: We previously reported the post-LA space index (PLAS index), which is calculated as left atrial-descending aorta distance (LD) divided by the diameter of descending aorta (DA), could be useful for prenatal diagnosis of total anomalous pulmonary venous connection (TAPVC). In this study, we evaluated PLAS index in normal fetuses to assess its usefulness.

Methods: In 304 normal fetuses, LD and DA were retrospectively measured, and the PLAS index was calculated. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5409DOI Listing
January 2019
1 Read

Should MRI be performed on all fetuses with mild ventriculomegaly ?

Prenat Diagn 2019 Jan 6. Epub 2019 Jan 6.

Clinical Department of Obstetrics and Gynaecology, University Hospitals Leuven, and Academic Development and Regeneration, Cluster Woman and Child, KU Leuven, Leuven, Belgium.

A ventricular diameter of 10 mm correlates with more than two standard deviations of the normal, hence is qualified as ventriculomegaly. The relevance of it is dependent on whether there are associated infectious, genetic or structural problems. The chance for neurodevelopmental delay in isolated ventriculomegaly less than 15mm is 7. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/pd.5416
Publisher Site
http://dx.doi.org/10.1002/pd.5416DOI Listing
January 2019
5 Reads

Cell free fetal DNA to triage antenatal rhesus immune globulin: Is it really cost-effective in the United States?

Prenat Diagn 2019 Jan 4. Epub 2019 Jan 4.

Department of Obstetrics, Gynecology and Reproductive Medicine, Division of Maternal-Fetal Medicine, University of Texas School of Medicine at Houston, Houston, TX, USA.

Objective: To compare the efficacy and costs of three different strategies of antenatal rhesus immune globulin (RhIG) administration in a US population.

Methods: A decision tree analysis was undertaken for universal antenatal RhIG administration based on RhD serologic paternity testing, universal administration without paternity, and selective antenatal RhIG administration using cell free fetal DNA (cfDNA) for RHD fetal typing. Rates of alloimmunization were calculated. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/pd.5415
Publisher Site
http://dx.doi.org/10.1002/pd.5415DOI Listing
January 2019
4 Reads

Amniotic membrane and placental histopathological findings after open and fetoscopic prenatal neural tube defect repair.

Prenat Diagn 2019 Jan 4. Epub 2019 Jan 4.

Department of Obstetrics & Gynecology, Division of Maternal-Fetal Medicine, Baylor College of Medicine & Texas Children's Hospital, Houston, TX, USA.

Objectives: To describe and compare placental and amniotic histology in women who underwent a fetoscopic myelomeningocele repair to those who underwent an open hysterotomy myelomeningocele repair. Also, we intended to compare findings from both prenatal repair groups to age-matched control pregnant patients.

Methods: Placental and membrane histopathology from 43 prenatally repaired spina bifida cases (17 fetoscopic and 26 open) and 18 healthy controls were retrospectively assessed. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/pd.5414
Publisher Site
http://dx.doi.org/10.1002/pd.5414DOI Listing
January 2019
7 Reads

Noninvasive fetal electrocardiography for the detection of fetal arrhythmias.

Prenat Diagn 2019 Jan 2. Epub 2019 Jan 2.

Obstetrics and Gynecology Department, Kharkiv Medical Academy of Postgraduate Education, Kharkiv, Ukraine.

Objective: To assess whether noninvasive fetal electrocardiography (NI-FECG) enables the diagnosis of fetal arrhythmias.

Methods: A total of 500 echocardiography and NI-FECG recordings were collected from pregnant women during a routine medical visit in this multicenter study. All the cases with fetal arrhythmias (n = 12) and a matching number of control (n = 14) were used. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/pd.5412
Publisher Site
http://dx.doi.org/10.1002/pd.5412DOI Listing
January 2019
6 Reads
2.514 Impact Factor

In case you missed it: The prenatal diagnosis editors bring you the most significant advances of 2018.

Prenat Diagn 2019 Jan;39(2):61-69

North East Thames Regional Genetics Service, Great Ormond Street NHS Foundation Trust, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5407DOI Listing
January 2019

Classification of factors involved in nonreportable results of noninvasive prenatal testing (NIPT) and prediction of success rate of second NIPT.

Prenat Diagn 2019 Jan 10;39(2):100-106. Epub 2019 Jan 10.

Division of Fetal Medicine, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan.

Objective: To evaluate the reasons for nonreportable cell-free DNA (cfDNA) results in noninvasive prenatal testing (NIPT), we retrospectively studied maternal characteristics and other details associated with the results.

Methods: A multicenter retrospective cohort study in pregnant women undergoing NIPT by massively parallel sequencing (MPS) with failed cfDNA tests was performed between April 2013 and March 2017. The women's data and MPS results were analyzed in terms of maternal characteristics, test performance, fetal fraction (FF), z scores, anticoagulation therapy, and other details of the nonreportable cases. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/pd.5408
Publisher Site
http://dx.doi.org/10.1002/pd.5408DOI Listing
January 2019
4 Reads

Fetal akinesia deformation sequence, arthrogryposis multiplex congenita, and bilateral clubfeet: Is motor assessment of additional value for in utero diagnosis? A 10-year cohort study.

Prenat Diagn 2018 Dec 22. Epub 2018 Dec 22.

Department of Obstetrics and Gynaecology, Amsterdam Movement Sciences, Amsterdam University Medical Centre, VUmc, Amsterdam, the Netherlands.

Objective: The diagnosis of fetal akinesia deformation sequence (FADS) is a challenge. Motor assessment is of additional value to advanced ultrasound examinations (AUE) for in utero FADS diagnosis before 24 weeks of gestation.

Methods: All consecutive fetuses with greater than or equal to two contractures on the 20 week structural anomaly scan (2007-2016) were included. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5411DOI Listing
December 2018
3 Reads

Hypoplastic nasal bone: A potential marker for facial dysmorphism associated with pathogenic copy number variants on microarray.

Prenat Diagn 2019 Jan 10;39(2):116-123. Epub 2019 Jan 10.

Pauline Gandel Imaging Centre, The Royal Women's Hospital, Parkville, Australia.

Objectives: To compare the frequency of abnormal genetic diagnoses spanning a period before and after the availability of chromosomal microarray analysis (CMA). We hypothesised that microarray would provide additional clinically relevant information in cases of isolated hypoplastic nasal bone.

Method: Fetuses with ultrasound-detected hypoplastic nasal bone (absent or <2. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/pd.5410
Publisher Site
http://dx.doi.org/10.1002/pd.5410DOI Listing
January 2019
7 Reads

Enrichment of fetal and maternal long cell-free DNA fragments from maternal plasma following DNA repair.

Prenat Diagn 2019 Jan 10;39(2):88-99. Epub 2019 Jan 10.

Centre for Research Into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China.

Objective: Cell-free DNA (cfDNA) fragments in maternal plasma contain DNA damage and may negatively impact the sensitivity of noninvasive prenatal testing (NIPT). However, some of these DNA damages are potentially reparable. We aimed to recover these damaged cfDNA molecules using PreCR DNA repair mix. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5406DOI Listing
January 2019
3 Reads

Z scores of the fetal trachea and bronchial dimension.

Prenat Diagn 2019 Jan 27;39(1):33-37. Epub 2018 Dec 27.

Department of Ultrasound Diagnosis, The Second Xiangya Hospital of Central South University, Changsha, China.

Objective: To develop Z scores for the trachea and main bronchi in normal fetuses.

Methods: This was a prospective cross-sectional study in 823 normal singleton fetuses. The tracheal diameter immediately proximal to the bifurcation and the left and right main bronchial diameters were measured from their inner to inner edge in the coronal view. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5394DOI Listing
January 2019
2 Reads

Abnormal fetal cerebral and vascular development in hypoplastic left heart syndrome.

Prenat Diagn 2019 Jan 27;39(1):38-44. Epub 2018 Dec 27.

Department of Pediatrics, Hospital for Sick Children, Toronto, ON, Canada.

Objective: To assess the cerebral and vascular development in fetuses with hypoplastic left heart syndrome (HLHS).

Methods: Pregnant women carrying fetuses diagnosed with HLHS who decided to interrupt their pregnancies were included in our study. Aortic size and blood flow were assessed based from fetal echocardiography. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5395DOI Listing
January 2019
1 Read

Prenatal diagnosis of antenatal midgut volvulus: Specific ultrasound features.

Prenat Diagn 2019 Jan 9;39(1):16-25. Epub 2018 Dec 9.

Department of Pediatric Imaging, CHU Montpellier, Montpellier, France.

Objective: To assess specific, direct, and indirect prenatal ultrasound features in cases of fetal midgut volvulus.

Methods: Retrospective case series of neonatal volvulus, based on postnatal and prenatal imaging findings that occurred from 2006-2017. Prenatal and postnatal signs including the specific "whirlpool sign" were computed. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5392DOI Listing
January 2019
2 Reads

Fetal myelomeningocele surgery: Only treating the tip of the iceberg.

Prenat Diagn 2019 Jan 10;39(1):10-15. Epub 2018 Dec 10.

Fetal Medicine Unit, Department of Obstetrics & Gynaecology, Mount Sinai Hospital and University of Toronto, Toronto, Canada.

Objective: Fetal myelomeningocele (fMMC) surgery improves infant outcomes when compared with postnatal surgery. Surgical selection criteria and the option of pregnancy termination, however, limit the number of cases that are eligible for prenatal surgery. We aimed to quantify what proportion of cases could ultimately benefit from fetal therapy. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5390DOI Listing
January 2019
6 Reads

Pitfall in genetic screening in a pregnancy involving an allogeneic hematopoietic stem cell transplantation recipient.

Prenat Diagn 2019 Jan 19;39(1):52-53. Epub 2018 Dec 19.

Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5403DOI Listing
January 2019
22 Reads

Advanced paternal age, infertility, and reproductive risks: A review of the literature.

Prenat Diagn 2019 Jan 10;39(2):81-87. Epub 2019 Jan 10.

Department of Obstetrics, Gynecology, and Reproductive Sciences, Division of Maternal Fetal Medicine, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey.

Advanced paternal age (APA) is associated with infertility and other reproductive risks. Studies looking at APA and outcomes have used different paternal age cut-offs, which has complicated systematic evaluations of reproductive risk associated with paternal aging. This review of the literature suggests that the impact of paternal aging on adverse reproductive outcomes is small, but significant. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5402DOI Listing
January 2019
5 Reads

Clinical outcomes following prenatal diagnosis of asymmetric ventriculomegaly, interhemispheric cyst, and callosal dysgenesis (AVID).

Prenat Diagn 2019 Jan 21;39(1):26-32. Epub 2018 Dec 21.

Department of Radiology, Oregon Health & Science University, Portland, Oregon.

Objectives: When identified prenatally, the imaging triad of asymmetric ventriculomegaly, interhemispheric cyst, and dysgenesis of the corpus callosum (AVID) can indicate a more serious congenital brain anomaly. In this follow-up series of 15 fetuses, we present the neurodevelopmental outcomes of a single institution cohort of children diagnosed prenatally with AVID.

Methods: Our fetal ultrasound database was queried for cases of AVID between 2000 and 2016. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5393DOI Listing
January 2019
1 Read

Longitudinal changes in lung size and intrapulmonary-artery Doppler during the second half of pregnancy in fetuses with congenital diaphragmatic hernia.

Prenat Diagn 2019 Jan 21;39(1):45-51. Epub 2018 Dec 21.

Department of Fetal Surgery, Children and Women's Specialty Hospital of Queretaro, Queretaro, Mexico Fetal Medicine Mexico Foundation, Queretaro, Mexico.

Objectives: The objectives of the study are to evaluate longitudinal changes in lung size and intrapulmonary-artery (IPa) Doppler in fetuses with congenital diaphragmatic hernia (CDH) and assess their contribution in predicting neonatal survival.

Methods: The observed/expected lung-to-head ratio (O/E-LHR) and IPa-pulsatility index (PI) and peak early diastolic reversed flow (PEDRF) were evaluated in a cohort of left-sided CDH fetuses managed expectantly during pregnancy. Longitudinal changes were analyzed by multilevel analysis, and their value to predict survival using the multiple logistic regression and decision-tree analysis was assessed. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/pd.5401
Publisher Site
http://dx.doi.org/10.1002/pd.5401DOI Listing
January 2019
9 Reads