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JAMA Netw Open 2022 Jun 1;5(6):e2217854. Epub 2022 Jun 1.

CAS Key Laboratory of Molecular Imaging, Institute of Automation, Chinese Academy of Sciences, Beijing, China.

Importance: Accurate screening of trisomy 21 in the first trimester can provide an early opportunity for decision-making regarding reproductive choices.

Objective: To develop and validate a deep learning model for screening fetuses with trisomy 21 based on ultrasonographic images.

Design, Setting, And Participants: This diagnostic study used data from all available cases and controls enrolled at 2 hospitals in China between January 2009 and September 2020. Read More

Ann Med 2022 12;54(1):1297-1302

Genetic Medical Center, Guangdong Women and Children Hospital, Guangzhou, China.

Objectives: To evaluate the efficiency of chromosomal microarray analysis (CMA) in the prenatal diagnosis of foetuses with isolated absent or hypoplastic nasal bone (NB) in the first and second trimester.

Methods: From January 2015 to April 2021, foetuses with isolated absent or hypoplastic NB who received invasive prenatal diagnosis were enrolled. The results of CMA were analysed. Read More

Math Biosci Eng 2022 02;19(4):4260-4276

Department of Ultrasonic Diagnosis, Shenzhen Second People's Hospital, Guangdong Province, 518035, China.

Objective: To explore the soft ultrasound marker (USM) combined with non-invasive prenatal testing (NIPT) in diagnosing fetal chromosomal abnormalities based on machine learning and data mining techniques.

Methods: To analyze the data of ultrasonic examination from 856 cases with high-risk single pregnancy during early and middle pregnancy stage. NIPT was applied in 642 patients. Read More

J Perinat Med 2022 May 26;50(4):462-466. Epub 2022 Jan 26.

Fetal Medicine Unit, Centro Hospitalar Universitário Lisboa Central, Lisbon, Portugal.

Objectives: In the mid-trimester ultrasound, nasal bone (NB) length can be used to correct the risk for trisomy 21. Our study aims to evaluate if there is a correlation between an absent NB in the first trimester and a hypoplastic NB in the second trimester.

Methods: Our two year retrospective analysis of data derived from routine clinical practice. Read More

BMC Pregnancy Childbirth 2022 Jan 11;22(1):27. Epub 2022 Jan 11.

Maternal and Fetal Medicine Unit, Department of Obstetrics and Gynecology, Faculty of Medicine, Prince of Songkla University, Hat Yai, Songkhla, 90110, Thailand.

Background: To establish the reference ranges and evaluate the efficacy of the fetal facial sonomarkers prenasal thickness (PT), nasal bone length (NBL), PT/NBL ratio and NBL/PT ratio for Down syndrome screening in the second trimester of high-risk pregnancies using two-dimensional (2D) ultrasound.

Methods: A prospective study was done in Thai pregnant women at high risk for structural and chromosomal abnormalities between May 2018 and May 2019. The main exclusion criteria were any fetal anatomical anomaly detected on ultrasonography or postpartum examination, abnormal chromosome or syndrome other than Down syndrome. Read More

BMC Pregnancy Childbirth 2022 Jan 9;22(1):23. Epub 2022 Jan 9.

Department of Biomedical Imaging and Radiological Sciences, National Yang Ming Chiao Tung University, Taipei, Taiwan.

Background: The purpose of this study is to evaluate the impact of prenatal screening tests on prenatal diagnosis in Taiwan's 14 years from 2006 to 2019.

Methods: The prenatal screening methods evolved from the second-trimester serum screening to combined first-trimester screening (cFTS) and then followed by the non-invasive cell-free DNA prenatal test (NIPT). The data used by the Department of Statistics, the Ministry of Health and Welfare and Department of Household Registration, Ministry of the Interior public website. Read More

J Obstet Gynaecol Res 2022 Feb 16;48(2):328-332. Epub 2021 Dec 16.

Department of Obstetrics and Gynecology, Showa University School of Medicine, Tokyo, Japan.

Aim: This study aimed to assess the utility of ultrasound screening for pregnancies with positive noninvasive prenatal testing results for trisomy 21, trisomy 18, and trisomy 13.

Methods: We performed a retrospective analysis of positive noninvasive prenatal testing results and first-trimester ultrasound screening at our department between 2013 and 2019. Invasive genetic testing was performed if the patient had positive noninvasive prenatal testing results. Read More

Pediatr Res 2021 11 12;90(5):1099-1100. Epub 2021 Oct 12.

, Columbia Falls, MT, USA.

Cir Pediatr 2021 Oct 1;34(4):211-214. Epub 2021 Oct 1.

Pediatric Surgery Department. Toledo Hospital Complex.

Pyloric atresia is a rare malformation, with an incidence of 1:100,000 live newborns. Male to female ratio is 1/1. Typically, it is an isolated malformation, with a good prognosis, but 20-40% of cases present epidermolysis bullosa, and to a lesser extent, multiple intestinal atresias. Read More

Arch Gynecol Obstet 2022 06 22;305(6):1439-1444. Epub 2021 Sep 22.

Department of Obstetrics and Gynecology, Hospital Universitario Puerta de Hierro Majadahonda, Madrid, Spain.

Purpose: Aberrant right subclavian artery is an anatomical variation with a prevalence of around 0.5-1.5% of the general population, being more frequently found among people with chromosomopathies, especially, trisomy 21. Read More

J Perinat Med 2022 Jan 2;50(1):82-86. Epub 2021 Aug 2.

Department of Obstetrics and Gynecology, Division of Prenatal Unit, Bahçelievler Memorial Hospital, Istanbul, Turkey.

Objectives: The present study was performed to examine the utility of a new first trimester marker called the "brain angle" (BA) in screening for trisomy 21. We postulate that differences in the midbrain anatomy between euploid fetuses and those that are affected by trisomy 21 are reflected in changes in BA measurements.

Methods: In fetuses at 11-13 weeks of gestations, which were at high risk for trisomy 21, the angle was measured between the line crossing the thalamus and mesencephalon cranial border tangentially and the line crossing the brainstem lower limit. Read More

Acta Clin Croat 2020 Dec;59(4):582-589

1Division of Perinatology, Istanbul Medeniyet University, Faculty of Medicine, Istanbul, Turkey; 2Division of Genetic Disease, Van Regional Training and Research Hospital, Van, Turkey; 3Division of Obstetrics & Gynecology, Van Regional Trainingand Research Hospital, Van, Turkey; 4Bahceci Infertility and IVF Center, Fulya, Istanbul, Turkey.

The objective of this study was to evaluate the association between aberrant right subclavian artery (ARSA) and chromosomal abnormalities. The study included 5211 women having attended our unit for fetal anatomic screening and fetal echocardiography from August 2016 until February 2019. After diagnosing ARSA, prenatal invasive testing was discussed with the patients. Read More

Taiwan J Obstet Gynecol 2021 Jul;60(4):706-710

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

Objective: To evaluate the performance of first trimester sonomarkers in the detection of fetal Down syndrome among Thai pregnant women.

Materials And Methods: Pregnant women at 11-13 weeks' gestation underwent ultrasound examination for assessment of nuchal translucency (NT), nasal bone (NB), tricuspid regurgitation (TR), and abnormal ductus venosus (aDV) Doppler waveforms. The women were followed up for final outcomes. Read More

Curr Cardiol Rep 2021 07 1;23(8):93. Epub 2021 Jul 1.

Congenital Heart Center, Spectrum Health Helen DeVos Children's Hospital, Grand Rapids, MI, USA.

Purpose Of Review: Atrioventricular septal defects (AVSD) represent a broad spectrum of congenital anomalies from simple to the most complex heart defects including some distinct types. Clinical presentation and timing of intervention differ by morphological subset and functional anatomy. Herein, we review morphological variations and characteristics that determine appropriate intervention and provide insights into functional anatomy based on detailed three-dimensional (3D) assessment of AVSDs. Read More

Comput Math Methods Med 2021 3;2021:6656942. Epub 2021 Jun 3.

Biomedical Ultrasound Laboratory, The University of Southern California (USC), Los Angeles, USA.

In the process of prenatal ultrasound diagnosis, accurate identification of fetal facial ultrasound standard plane (FFUSP) is essential for accurate facial deformity detection and disease screening, such as cleft lip and palate detection and Down syndrome screening check. However, the traditional method of obtaining standard planes is manual screening by doctors. Due to different levels of doctors, this method often leads to large errors in the results. Read More

Prenat Diagn 2021 Sep 1;41(10):1351-1359. Epub 2021 Jul 1.

Department of Clinical Genetics and Amsterdam Public Health Research Institute, Amsterdam University Medical Centres, Vrije Universiteit Amsterdam, location VUmc, Amsterdam, The Netherlands.

Objective: To evaluate if non-invasive prenatal testing (NIPT) affects livebirth (LB) prevalence of Down syndrome (DS) in the Netherlands.

Method: Data from clinical genetics laboratories and the Working Party on Prenatal Diagnosis and Therapy (2014-2018) and previous published data (1991-2013) were used to assess trends for DS LB prevalence and reduction percentage (the net decrease in DS LBs resulting from selective termination of pregnancies). Statistics Netherlands provided general population data. Read More

Am J Obstet Gynecol 2021 10 23;225(4):B2-B15. Epub 2021 Jun 23.

Society for Maternal-Fetal Medicine, 409 12 St. SW, Washington, DC 20024, USA.

Soft markers were originally introduced to prenatal ultrasonography to improve the detection of trisomy 21 over that achievable with age-based and serum screening strategies. As prenatal genetic screening strategies have greatly evolved in the last 2 decades, the relative importance of soft markers has shifted. The purpose of this document is to discuss the recommended evaluation and management of isolated soft markers in the context of current maternal serum screening and cell-free DNA screening options. Read More

Arch Gynecol Obstet 2021 11;304(5):1115-1125

Institute of Pathology, Locarno, Switzerland.

Identified by the eponym "Edwards' Syndrome," trisomy 18 (T18) represents the second most common autosomal trisomy after T21. The pathophysiology underlying the extra chromosome 18 is a nondisjunction error, mainly linked with the advanced maternal age. More frequent in female fetuses, the syndrome portends high mortality, reaching a rate of 80% of miscarriages or stillbirths. Read More

J Obstet Gynaecol 2022 Feb 27;42(2):239-243. Epub 2021 May 27.

Pediatric Cardiology Unit, Monaldi Hospital, University "Luigi Vanvitelli", Naples, Italy.

Aberrant right subclavian artery (ARSA) is the most common embryologic abnormality of the aortic arch. The presence of ARSA has been previously associated with an increased risk of Down syndrome. ARSA at birth may be associated with dysphagia, respiratory distress and stridor and there is no clear evidence-based management. Read More

Obstet Gynecol 2021 06;137(6):1102-1108

Department of Human Genetics, Katholieke Universiteit Leuven, Leuven, the Center for Human Genetics and the Department of Obstetrics and Gynecology, Universitair Ziekenhuis Leuven, Leuven, the Center for Medical Genetics, Universitair Ziekenhuis Gent, Ghent, the Center for Medical Genetics, Universitair Ziekenhuis Antwerpen, Antwerp, the Center for Medical Genetics, Universiteit Antwerpen, Antwerp, the Center for Medical Genetics, Centre Hospitalier Universitaire de Liège, Liège, the Center for Human Genetics, Université Libre de Bruxelles, Brussels, the Center for Human Genetics, Université Catholique de Louvain, Brussels, the Center for Medical Genetics, Institut de Pathologie et de Génétique Gosselies, Charleroi, the Center for Medical Genetics, Vrije Universiteit Brussel, Brussels, and the Department of Obstetrics, Women's Clinic, Universitair Ziekenhuis Gent, Ghent, Belgium.

Objective: To evaluate the accuracy and diagnostic value of genome-wide noninvasive prenatal testing (NIPT) for the detection of fetal aneuploidies in multiple gestations, with a focus on dichorionic-diamniotic twin pregnancies.

Methods: We performed a retrospective cohort study including data from pregnant women with a twin or higher-order gestation who underwent genome-wide NIPT at one of the eight Belgian genetic centers between November 1, 2013, and March 1, 2020. Chorionicity and amnionicity were determined by ultrasonography. Read More

Am J Med Genet A 2021 06 8;185(6):1732-1742. Epub 2021 Mar 8.

Department of Obstetrics and Gynecology, Semmelweis University, Budapest, Hungary.

Prenatal testing has changed greatly over the past two decades, which may affect the diagnosis of congenital heart disease (CHD) in Down syndrome. The present study aimed to analyze changes in the prevalence and distribution of CHD diagnosed via ultrasonography and fetopathology in 462 fetuses with trisomy 21 between two consecutive 10-year periods (1999-2018), as well as the associations between CHDs, ultrasound markers, and extracardiac malformations. Overall, the frequency of cardiovascular malformations in trisomy 21 was 27. Read More

Folia Med (Plovdiv) 2021 Feb;63(1):142-147

Democritus University of Thrace, Alexandroupolis, Greece.

Echogenic intracardiac focus (EIF) constitutes a finding in the ultrasound study that indicates an area which is echogenically bright in the fetal heart and is as bright as the bone that moves synchronically to the atrioventricular valves. Microcalcifications of the papillary muscles or chordae tendinae are being represented by this echogenicity and are mostly present in the left ventricle (90% of cases). EIF appears usually at the ultrasound that is realized in the mid-trimester in a percentage that reaches 3. Read More

J Perinat Med 2021 Jun 10;49(5):604-613. Epub 2021 Feb 10.

Department of Obstetrics and Gynecology, University Hospital of Muenster, Muenster, Germany.

Objectives: The aim of this study was to investigate the correlation between fetal thymus size measured during first-trimester screening and chromosomal anomalies.

Methods: This study is a retrospective evaluation, in which the anterior-posterior diameter of the thymus in a midsagittal plane was measured in first-trimester ultrasound between 11 and 13 weeks of gestation in 168 fetuses with chromosomal anomalies (study group) and 593 healthy fetuses (control group). The included cases were subdivided into six groups: (1) trisomy 21, (2) trisomy 18, (3) trisomy 13, (4) Turner syndrome, (5) triploidy and (6) normal controls. Read More

Echocardiography 2021 03 5;38(3):484-487. Epub 2021 Feb 5.

Department of Ultrasound, Shandong Provincial Maternal and Child Health Hospital, Jinan, China.

Classical absent pulmonary valve syndrome (APVS) with tetralogy of fallot (TOF) is a rare congenital cardiac anomaly commonly associated with the absence of patent ductus arteriosus (PDA), which is mostly diagnosed after 20 weeks of gestation by fetal echocardiography. This case of APVS with TOF was suspected at 13 weeks of gestation and diagnosed at 14 weeks of gestation with an obvious PDA. The pulmonary arterial trunk and the branches did not dilate obviously. Read More

BMC Pregnancy Childbirth 2020 Nov 23;20(1):713. Epub 2020 Nov 23.

Genetics Program, North York General Hospital, 4001 Leslie Street, Toronto, Ontario, M2K 1E1, Canada.

Background: Prenatal screening for chromosome aneuploidies have constantly been evolving, especially with the introduction of cell-free fetal DNA (cfDNA) screening in the most recent years. This study compares the performance, costs and timing of test results of three cfDNA screening implementation strategies: contingent, reflex and primary.

Methods: We modelled enhanced first trimester screening (eFTS) as the first-tier test in contingent or reflex strategies. Read More

J Hum Genet 2021 May 3;66(5):499-507. Epub 2020 Nov 3.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

The objective of this study was to evaluate the efficacy of whole exome sequencing (WES) for the genetic diagnosis of cases presenting with fetal structural anomalies detected by ultrasonography. WES was performed on 19 cases with prenatal structural anomalies. Genomic DNA was extracted from umbilical cords or umbilical blood obtained shortly after birth. Read More

J Obstet Gynaecol Res 2021 Jan 15;47(1):359-367. Epub 2020 Oct 15.

Jefe de Servicio, Servicio de Obstetricia y Ginecología, Hospital Universitario Puerta de Hierro Majadahonda, Madrid, Spain.

Aim: Analyze if the evaluation of aberrant right subclavian artery in the prenatal echography has improved the detection of chromosomal, genetic and/or morphological abnormalities in our population.

Methods: Descriptive, observational, cross-sectional study of the cases of aberrant right subclavian artery diagnosed in our Prenatal Diagnosis Unit between January of 2011 and December of 2018.

Results: Two hundred and fifty-seven cases of aberrant right subclavian artery were diagnosed and among them, 179 were considered isolated cases and thus were confirmed after birth. Read More

BMC Pregnancy Childbirth 2020 Oct 1;20(1):579. Epub 2020 Oct 1.

Department of Obstetrics & Gynaecology, Singapore General Hospital, 1 Hospital Drive, Singapore, 169608, Singapore.

Background: Non-invasive prenatal testing (NIPT) has revolutionized the prenatal screening landscape with its high accuracy and low false positive rate for detecting Trisomy 21, 18 and 13. Good understanding of its benefits and limitations is crucial for obstetricians to provide effective counselling and make informed decisions about its use. This study aimed to evaluate obstetrician knowledge and attitudes regarding NIPT for screening for the common trisomies, explore how obstetricians integrated NIPT into first-line and contingent screening, and determine whether expanded use of NIPT to screen for sex chromosome aneuploidies (SCAs) and microdeletion/microduplication syndromes (CNVs) was widespread. Read More

J Ultrasound Med 2021 Jul 20;40(7):1307-1312. Epub 2020 Sep 20.

Department of Ultrasound, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China.

Objectives: A classification termed umbilical-portal-systemic venous shunt (UPSVS) for an abnormal umbilical vein (UV), portal vein (PV), and ductus venosus (DV) was proposed recently. According to this classification, there are 3 types of UPSVSs: types I, II, and III. Trisomy 21 associated with UV-PV-DV anomalies has been described, but the incidence of trisomy 21 in UPSVS cases, the relationship between UPSVS types and trisomy 21, and the pregnancy outcome are poorly documented. Read More

Cereb Cortex 2021 01;31(2):757-767

Fetal Neonatal Neuroimaging and Developmental Science Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.

Down syndrome (DS) is the most common genetic cause of developmental disabilities. Advanced analysis of brain magnetic resonance imaging (MRI) has been used to find brain abnormalities and their relationship to neurocognitive impairments in children and adolescents with DS. Because genetic factors affect brain development in early fetal life, there is a growing interest in analyzing brains from living fetuses with DS. Read More