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Medicine (Baltimore) 2018 Nov;97(45):e13094

Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital.

Rationale: Chromosome deletion/duplication has been reported to be associated with mental disability and dysmorphism according to the accumulated research evidence.

Patient Concerns: A 25-year-old woman underwent amniocentesis for cytogenetic and single-nucleotide polymorphism (SNP) array analysis at 18 weeks of gestation due to the increased Down syndrome risk of 1/13.

Diagnoses: The fetal chromosomal analysis revealed a seemingly "normal" chromosomal karyotype, but the SNP array results showed a partial duplication of chromosome 4q34. Read More

J Pregnancy 2018 9;2018:1646035. Epub 2018 Oct 9.

Center for Fetal Diagnostics, Aarhus University Hospital, Aarhus, Denmark.

Objective: The aim of the study was to determine sonographers' experiences with the introduction of an offer of noninvasive prenatal testing (NIPT) to a new moderate-risk (MR) group at the combined first-trimester prenatal screening (cFTS).

Study Design: A qualitative approach consisting of seven semistructured interviews with five sonographers (midwives and nurses). Data was analyzed using thematic analysis. Read More

Taiwan J Obstet Gynecol 2018 Aug;57(4):551-554

Department of Gynecology and Obstetrics, Women and Children Branch, Taipei City Hospital, Taipei, Taiwan; Department of Biomedical Engineering, National Yang Ming University, Taipei, Taiwan. Electronic address:

Objective: This study investigates the performance of first- and second-trimester screening tests for detecting fetal trisomy 21 in a Taiwanese population.

Materials And Methods: This multicenter study 29,137 cases enrolled the chromosomal abnormality screening between 2013 and 2014 two years period from Taipei city. There were 23,990 was done the first trimester screening using a combination of fetal nuchal translucency, maternal serum β-human chorionic gonadotropin, and pregnancy-associated plasma protein-A between 11 and 13 weeks of gestation age. Read More

Clin Dysmorphol 2018 Oct;27(4):126-129

Aneuploidies occur in about 5% of clinically recognized pregnancies. Facial gestalt is a vital tool for the clinical diagnosis of trisomy 21. Facial anomalies are subtle in fetal life and challenging for a clinician not familiar with perinatal dysmorphology. Read More

Eur J Med Genet 2018 Sep;61(9):489-492

Paediatric Department, Hospital Lillebaelt - Kolding, Denmark. Electronic address:

In 2004 the Danish National Board of Health changed its screening recommendations. Since 2005 a first trimester screening for Down syndrome and a prenatal ultrasound screening for congenital anomalies in the second trimester of pregnancy has been offered to all pregnant women. The aim of this study was to describe the prevalence of cleft lip with or without cleft palate and cleft palate in a Danish area and to describe associated anomalies and the development in prenatal diagnosis over time. Read More

Prenat Diagn 2018 05 30;38(6):402-405. Epub 2018 Mar 30.

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

Objective: To evaluate the application of noninvasive prenatal testing as an alternative to invasive diagnostic testing in pregnancies with the double bubble sign.

Methods: This was a retrospective analysis of 92 pregnancies with fetal double bubble identified by prenatal ultrasound, in which invasive diagnostic testing was performed for genetic investigations using quantitative fluorescence PCR and chromosomal microarray. Noninvasive prenatal testing was assumed to provide to patients for screening for the common aneuploidies. Read More

Ultrasound Obstet Gynecol 2018 Nov;52(5):563-568

Barcelona Center for Maternofetal and Neonatal Medicine, Hospital Clínic Barcelona, Catalonia, Spain.

Acta Obstet Gynecol Scand 2018 Feb 14;97(2):180-186. Epub 2017 Dec 14.

Ultrasound Department, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China.

Introduction: The aim of this study was to evaluate the value of absent fetal nasal bone in the prediction of fetal chromosomal abnormalities, according to whether it was associated with other soft markers or structural abnormalities in a prescreened population of Chinese pregnant women.

Material And Methods: In this retrospective cohort study, women whose fetuses had absent nasal bone detected during the second trimester ultrasound scan were followed. Fetal karyotyping was performed and pregnancy outcomes were recorded. Read More

Taiwan J Obstet Gynecol 2017 Oct;56(5):703-705

Medical Laboratory Center, The Affiliated Yantai Yu Huang Ding Hospital of Qingdao University Medical College, Shandong, China. Electronic address:

Ultrasound Obstet Gynecol 2018 Apr;51(4):493-502

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

Objectives: To evaluate the diagnostic yield of prenatal whole exome sequencing (WES) for monogenic disorders in fetuses with structural malformations and normal results on cytogenetic testing, and to describe information on pathogenic variants that is provided by WES.

Methods: Karyotyping, chromosomal microarray analysis (CMA) and WES were performed sequentially on stored samples from a cohort of 3949 pregnancies with fetal structural abnormalities detected on ultrasound and/or magnetic resonance imaging, referred between January 2011 and December 2015. Diagnostic rates of the three techniques were investigated overall, for phenotypic subgroups and for proband-only vs fetus-mother-father samples. Read More

Mol Med Rep 2017 Nov 20;16(5):7641-7648. Epub 2017 Sep 20.

Department of Genetic and Reproductive Science, The Xiangtan Central Hospital, Xiangtan, Hunan 411413, P.R. China.

Prenatal examinations, including serological screening and ultrasound screening, are the methods determining a risk of fetal chromosomal disease. The current study is aimed to assess whether ultrasound screening can effectively assist the screening for fetal chromosomal disease among pregnant women with a single abnormal serum marker. Following serologic screening, pregnant women at 18‑32 weeks underwent systematic fetal ultrasound analysis. Read More

Med Health Care Philos 2018 Mar;21(1):77-87

Centre for Studies in Practical Knowledge, Södertörn University, 141 89, Huddinge, Sweden.

In this article I investigate the ways in which phenomenology could guide our views on the rights and/or wrongs of abortion. To my knowledge very few phenomenologists have directed their attention toward this issue, although quite a few have strived to better understand and articulate the strongly related themes of pregnancy and birth, most often in the context of feminist philosophy. After introducing the ethical and political contemporary debate concerning abortion, I introduce phenomenology in the context of medicine and the way phenomenologists have understood the human body to be lived and experienced by its owner. Read More

Ultrasound Obstet Gynecol 2018 Mar;51(3):412-413

Department of Obstetrics and Gynecology, Fondazione IRCCS Policlinico San Matteo Ringgold Standard Institution, Pavia, Italy.

Prenat Diagn 2017 Jul 1;37(7):680-685. Epub 2017 Jun 1.

Department of Obstetrics and Gynaecology, University of Tuebingen, Tuebingen, Germany.

Objective: To examine whether combining the dichotomous assessment of the a-wave and the ductus venosus (DV) pulsatility index for veins (PIV) measurement improves first-trimester screening performance.

Methods: Retrospective study performed at the University Hospital of Tuebingen based on singleton pregnancies that underwent first-trimester screening including DV flow assessment. In each case, the risk of trisomy 21 was calculated based on maternal age, fetal nuchal translucency, and DV flow either as dichotomous classification of the a-wave, as measurement of the DV PIV, or both. Read More

J Obstet Gynaecol Can 2017 Oct 6;39(10):886-889. Epub 2017 May 6.

Department of Obstetrics, Paulista School of Medicine, Federal University of São Paulo, São Paulo, Brazil. Electronic address:

Background: Down syndrome is a chromosomal abnormality characterized by an additional acrocentric chromosome, resulting in an aneuploid number of 47 chromosomes (trisomy 21). Fetal face phenotype of Down syndrome is typical in the second trimester and characterized by plane face and a big and protruding tongue.

Case: We present a case of Down syndrome at 29 weeks of gestation in which the fetal face was created using 3-D virtual reality model from 3-D ultrasound scan data. Read More

Eur J Obstet Gynecol Reprod Biol 2017 Jun 7;213:140-141. Epub 2017 Apr 7.

Department of Obstetrics and Gynecology, Ioannina State General Hospital "G. Chatzikosta", Ioannina, Greece. Electronic address:

Isr Med Assoc J 2017 Jan;19(1):8-12

Department of Obstetrics.

Background: Early prenatal ultrasound is an important part of prenatal screening in Israel. No studies have described the rate of trisomy 21 [T21] identification at 14-17 weeks gestation.

Objectives: To describe the rate of T21 identification by transvaginal sonograms (TVS) at 14-17 weeks gestation. Read More

Eur J Obstet Gynecol Reprod Biol 2017 May 3;212:166-170. Epub 2017 Mar 3.

Department of Gynecology and Obstetrics, Pole femme enfant, Marseille, Hôpital Nord, Assistance Publique-Hôpitaux de Marseille, AMU, Aix-Marseille Université and A*MIDEX «CREER» (n° ANR-11-IDEX-0001-02), France; Aix-Marseille Université, Unité de Recherche sur les Maladies Infectieuses Tropicales et Emergentes, UM63, CNRS 7278, IRD 198, INSERM 1095, Marseille, France; Center for Prenatal Diagnosis, Timone Children's Hospital, Assistance Publique Hopitaux de Marseille, Aix-Marseille Université, INSERM, GMGF UMR_S 910, 13385 Marseille, France.

Objective: The aim of this study was to identify antenatal prognostic factors of neonatal outcomes in cases of fetal echogenic bowel (FEB).

Study Design: A retrospective study in three tertiary referral centers including fetal echogenic bowel over a 10-year period (from January 2003 to December 2013). The echogenicity of the fetal bowel was graded from 1 to 3, according to Slotnick's definition. Read More

Cochrane Database Syst Rev 2017 Mar 15;3:CD012600. Epub 2017 Mar 15.

Department of Women's and Children's Health, The University of Liverpool, First Floor, Liverpool Women's NHS Foundation Trust, Crown Street, Liverpool, UK, L8 7SS.

Background: Down's syndrome occurs when a person has three, rather than two copies of chromosome 21; or the specific area of chromosome 21 implicated in causing Down's syndrome. It is the commonest congenital cause of mental disability and also leads to numerous metabolic and structural problems. It can be life-threatening, or lead to considerable ill health, although some individuals have only mild problems and can lead relatively normal lives. Read More

Z Geburtshilfe Neonatol 2017 Apr 9;221(2):88-91. Epub 2017 Mar 9.

Division of Neonatology and Pediatric Intensive Care Medicine, University Medical Centre Hamburg-Eppendorf, Hamburg.

A 34-year-old para V woman was referred to our centre at 35+1 weeks of gestation for an assumed fetal malformation with prenatal renal impairment and anhydramnios. Prenatal ultrasound demonstrated unilateral renal agenesis; the bladder was not detectable. The baby was born by caesarian section at 36+2 weeks of gestation because of placental insufficiency. Read More

J Ultrasound Med 2017 May 4;36(5):1015-1019. Epub 2017 Mar 4.

Department of Obstetrics and Gynecology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.

Objectives: The aim of this study was to assess the incidence of an aberrant right subclavian artery (ARSA) among an unselected population during second-trimester sonography and to review the importance of this conotruncal variant as a marker of Down syndrome.

Methods: The presence or absence of an ARSA was assessed in an unselected population of 1913 second-trimester fetuses.

Results: Among the 1913 patients, an ARSA was detected in 20 fetuses (1. Read More

Taiwan J Obstet Gynecol 2017 Feb;56(1):16-22

Obstetrics and Gynaecology Department, Hospital La Mancha Centro, Alcázar de San Juan, Ciudad Real, Spain.

Echogenic intracardiac foci are a second trimester marker associated with aneuploidy in high-risk populations. The objective of this study is to assess the validity of echogenic intracardiac foci for Down syndrome detection in the second trimester ultrasound scan. A systematic search in major bibliographic databases was carried out (MEDLINE, EMBASE, CINAHL). Read More

Ultrasound Obstet Gynecol 2017 Sep 26;50(3):332-335. Epub 2017 Jul 26.

The Genetics Institute, Meir Medical Center, Kfar Saba, Israel.

Objectives: An association between isolated, increased nuchal translucency thickness (NT) and pathogenic findings on chromosomal microarray analysis (CMA) has been reported. A recent meta-analysis reported that most studies use a NT cut-off value of 3.5 mm. Read More

J Ultrasound Med 2017 Apr 10;36(4):785-790. Epub 2017 Jan 10.

Department of Obstetrics and Gynecology, University Hospitals Leuven, Leuven, Belgium.

Objectives: To determine whether fetuses with an isolated aberrant course of the right subclavian artery (ARSA) have increased risk for chromosomal abnormalities, including trisomy 21 or 22q11 deletion.

Methods: We performed a retrospective chart review of all fetuses with antenatally diagnosed ARSA. Data were collected from fetal anatomic surveys, fetal echocardiograms, noninvasive trisomy 21 screening programs, invasive genetic studies, and neonatal records. Read More

Ginekol Pol 2016 ;87(11):751-754

Department of Obstetrics and Perinatology, Medical University of Warsaw, Poland.

Objectives: Trisomy 21 is one of the most common chromosomal defects diagnosed prenatally. Screening for Down syndrome is based on maternal age, measurement of crown-rump length, nuchal translucency and fetal heart rate, together with free β-hCG and PAPP-A at 11 to 13 + 6 weeks. Introduction of additional ultrasound marker of trisomy 21 (evaluation of the nasal bone) may result in increased DR and decreased invasive diagnostic testing rates (FPR). Read More

Eur J Obstet Gynecol Reprod Biol 2017 Jan 29;208:31-35. Epub 2016 Oct 29.

Fetal Medicine Unit, Academic Department of Obstetrics and Gynaecology, St George's University of London, London, United Kingdom; Royal Brompton Hospital, London, United Kingdom.

Objective: Atrioventricular septal defect is associated with a high risk of a chromosomal abnormality, particularly trisomy 21. The aim of this study is to assess the rate of trisomy 21 in fetuses diagnosed with an atrioventricular septal defect and to examine the influence of prior screening on the rate of trisomy 21.

Methods: Electronic ultrasound database was searched to identify fetuses diagnoses with an atrioventricular septal defect from 2002 to 2014. Read More

Fetal Diagn Ther 2018 18;43(3):231-240. Epub 2016 Nov 18.

Department of Obstetrics and Gynecology, Fetal Medicine Unit, University Medical Centre, Groningen, The Netherlands.

Objective: To investigate the feasibility and reproducibility of the prenasal thickness (PNT)/nasal bone length (NBL) ratio, maxilla-nasion-mandible (MNM) angle, facial profile line, profile line distance, and prefrontal space ratio (PFSR) in the first trimester of pregnancy, develop normal ranges, and evaluate these markers in abnormal fetuses.

Methods: All measurements were performed on stored images by two operators. Feasibility, interoperator agreement, and prediction intervals were calculated for all measurements. Read More

Medicine (Baltimore) 2016 Nov;95(45):e5326

aDepartment of Ultrasound bDepartment of Obstetrics cDepartment of Pathology, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China.

Introduction: Urorectal septum malformation sequence (URSMS) is a rare congenital abnormal syndrome that is caused by the incomplete division of the cloaca. Based on whether the cloaca membrane breaks down or not, the URSMS are classified as full and partial forms. The prenatal diagnosis of URSMS remains challenging because of poor recognition to this malformation and the relatively non-specific sonographic features. Read More

Fetal Diagn Ther 2017 21;42(2):130-136. Epub 2016 Oct 21.

Multidisciplinary Center of Prenatal Diagnosis of Martinique, University Hospital of Martinique, Fort de France, France.

Objective: To establish the normal reference range of fetal nasal bone length (NBL) during the second trimester in an Afro-Caribbean population and the likelihood ratio (LR) for fetal trisomy 21.

Methods: Prenatal records of euploid, non-malformed singleton fetuses who underwent second-trimester ultrasonographic scans at 20-24 weeks of gestation were retrospectively analyzed for NBL and gestational age (GA). Only Afro-Caribbean couples were selected. Read More

J Obstet Gynaecol 2016 Oct 9;36(7):861-864. Epub 2016 Sep 9.

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

Ultrasound Obstet Gynecol 2017 Aug 9;50(2):187-191. Epub 2017 Jul 9.

Department of Obstetrics and Gynaecology, University of Tübingen, Tübingen, Germany.

Objective: To examine the sphenofrontal distance (SFD) in a large series of aneuploid fetuses in the second and third trimesters and compare findings with those of a euploid population.

Methods: The database at our unit was searched to identify pregnancies with a diagnosis of trisomy 21, 18 or 13, triploidy or Turner syndrome after 15 weeks' gestation. Stored ultrasound images obtained between 19 and 22 weeks were reviewed. Read More

Diagn Interv Imaging 2017 Feb 8;98(2):155-160. Epub 2016 Jul 8.

Prenatal Diagnosis Centre, hôpital de la Timone, 264, rue Saint-Pierre, 13385 Marseille, France; Department of Pediatric and Prenatal Imaging, hôpital de la Timone, 264, rue Saint-Pierre, 13385 Marseille, France.

Purpose: To compare Herman scores self-assessed prospectively during ultrasound first-trimester screening by a single senior radiologist with 15 years of experience, to those obtained retrospectively by an unexperienced junior radiologist.

Materials And Methods: Over a 18-month period, a single senior radiologist measured the nuchal translucency thickness along with calculation of Herman scores. An independent junior radiologist subsequently reviewed and scored the images. Read More

Taiwan J Obstet Gynecol 2016 Jun;55(3):427-9

Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan; Department of Pediatrics, Changhua Christian Hospital, Changhua, Taiwan; Department of Genomic Medicine, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, National Taiwan University Hospital and College of Medicine, Taipei, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan. Electronic address:

Objective: Fetal ductus arteriosus aneurysm (DAA) is a rare but potentially risky congenital heart disease. It is often not diagnosed until the third trimester because of its asymptomatic nature and late onset. In rare occasions, DAA may result in serious complications; therefore, prenatal diagnosis is helpful. Read More

Ginecol Obstet Mex 2016 Feb;84(2):105-11

Background: Meckel-Gruber syndrome is a ciliopathy, a lethal autosomal recessive disorder that occurs in all races and ethnicities; it is characterized by central nervous system abnormalities, resulting in mental retardation, bilateral renal cystic dysplasia and malformations of hands and feet. To date there have been only about 200 cases reported worldwide. It is a disease with a recurrence rate of 25% whose most reliable method for diagnosis is prenatal ultrasound. Read More

J Perinat Med 2017 Feb;45(2):213-218

Objective: The present study aims to compare the presence and localization of collagen type IV in the prenasal tissue of fetuses with and without Down syndrome (DS).

Methods: Products of conception were obtained from mid-gestation uterine evacuations of 14 DS fetuses and 15 unaffected controls. Microdissection of the prenasal area and an analysis of the prenasal tissue specimens were performed by a single pathologist, blinded to the karyotype results. Read More

Fetal Diagn Ther 2017 13;41(1):58-65. Epub 2016 May 13.

Division of Fetal Surgery, Department of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany.

Objective: To assess predictors for survival and complications among a relatively large cohort of fetuses with hydrothorax treated by thoracoamniotic shunting.

Methods: All cases with hydrothorax treated by thoracoamniotic shunting in a 10-year period (2002-2011) in two centers were retrospectively reviewed.

Results: A total of 78 fetuses with hydrothorax treated with thoracoamniotic shunting were included in the study. Read More

J Reprod Med 2016 Mar-Apr;61(3-4):167-70

Background: The occurrence of a discordant chromosomal abnormality in monozygotic twins is an extremely rare condition.

Case: We report the prenatal sonographic findings and cytogenetic studies in a monochorionic twin pregnancy discordant for severe fetal anomalies. Amniocentesis was normal for both twins. Read More

Obstet Gynecol 2016 May;127(5):976-8

Prenatal genetic diagnostic testing is intended to determine, with as much certainty as possible, whether a specific genetic disorder or condition is present in the fetus. In contrast, prenatal genetic screening is designed to assess whether a patient is at increased risk of having a fetus affected by a genetic disorder. Originally, prenatal genetic testing focused primarily on Down syndrome (trisomy 21), but now it is able to detect a broad range of genetic disorders. Read More

Prenat Diagn 2016 Jun 17;36(6):576-83. Epub 2016 May 17.

Berry Genomics Co., Ltd, Beijing, China.

Objective: The study aimed to determine whether cell-free fetal DNA (cffDNA) present in amniotic fluid supernatant can be used as a surrogate for amniocyte-based diagnosis of fetal chromosomal abnormalities.

Method: Amniocentesis was performed on 28 high-risk pregnancies. Amniocytes and the cffDNA fraction were prepared from the amniotic fluid samples. Read More

Prenat Diagn 2016 Jun 10;36(6):537-44. Epub 2016 May 10.

Department of Obstetrics, Leiden University Medical Center, Leiden, The Netherlands.

Objective: To perform a morphological evaluation of the ductus venosus, heart and jugular lymphatic sac (JLS) in first-trimester human fetuses with normal and abnormal ductus venosus flow velocity waveforms (DV-FVWs) and normal and increased nuchal translucency (NT).

Method: Postmortem examination was performed on fetuses with increased NT or structural malformations with previous NT and DV-FVW measurements. Ductus venosus morphology was examined using markers for endothelium, smooth muscle actin (SMA), nerves and elastic fibers. Read More

J Perinat Med 2017 Feb;45(2):185-191

Objectives: To compare two first-trimester screening strategies: traditional combined screening and the one based on ultrasound markers only. We investigated the effect of maternal age (MA) on the screening performance of both of these strategies.

Methods: This was a prospective observational study based on a non-selected mixed-risk population of 11,653 women referred for first-trimester screening. Read More

Int J Gynaecol Obstet 2016 Jun 24;133(3):287-90. Epub 2016 Feb 24.

Department of Obstetrics, Gynecology and Reproductive Science, Magee-Women's Hospital of the University of Pittsburgh, Pittsburgh, PA, USA.

Objective: To construct growth curves specific for fetuses with trisomy 21 (T21) and to compare them with the reference-based standard.

Methods: A retrospective cohort study was conducted of ultrasonography examinations from women with singleton pregnancies with a confirmed diagnosis of T21 who sought care at an academic tertiary-care center in the USA between January 1, 2003, and December 31, 2013. Growth curves were constructed using linear regression and compared with the Hadlock standard. Read More

Obstet Gynecol 2016 05;127(5):e108-22

Prenatal genetic diagnostic testing is intended to determine, with as much certainty as possible, whether a specific genetic disorder or condition is present in the fetus. In contrast, prenatal genetic screening is designed to assess whether a patient is at increased risk of having a fetus affected by a genetic disorder. Originally, prenatal genetic testing focused primarily on Down syndrome (trisomy 21), but now it is able to detect a broad range of genetic disorders. Read More

Prenat Diagn 2016 May 21;36(5):432-6. Epub 2016 Mar 21.

Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, NY, USA.

Objective: To describe the association of abnormal outcomes with fetal cystic hygroma detected when crown-rump length measures less than 45 mm, and to compare them to outcomes among fetuses with cystic hygroma detected when crown-rump length measures 45-84 mm.

Methods: We performed a retrospective cohort study of fetuses with first trimester nuchal cystic hygroma from 2005 to 2015.

Results: A total of 212 fetuses were included. Read More

Ultrasound Obstet Gynecol 2016 Aug 19;48(2):177-80. Epub 2016 Jun 19.

Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK.

Objective: To compare the distance between the sphenoid and frontal bones on three-dimensional (3D) ultrasound in euploid and trisomy-21 fetuses at 16-24 weeks' gestation.

Methods: We acquired 3D volumes of the fetal profile from 80 normal and 30 trisomy-21 fetuses at 16-24 weeks' gestation. We used the multiplanar mode to obtain the mid-sagittal plane and measured the sphenofrontal distance as the shortest distance between the most anterior edge of the sphenoid bone and the lowest edge of the frontal bone. Read More

J Med Case Rep 2016 Jan 22;10:19. Epub 2016 Jan 22.

Department of Neonatology, Center for Maternal, Fetal and Neonatal Medicine, Saitama Medical Center, Saitama Medical University, Kamoda 1981, Kawagoe, Saitama, 3508550, Japan.

Background: We reported two rare cases of congenital diaphragmatic hernia with abdominal wall closure defect, which were not associated with septum transversum diaphragmatic defects or Fryns syndrome.

Case Presentation: Case 1: a Japanese baby boy was delivered at 37 weeks' gestation by urgent cesarean section because of the diagnosis of severe fetal distress. Congenital diaphragmatic hernia with omphalocele was prenatally diagnosed with fetal ultrasound. Read More

Gynecol Obstet Fertil 2016 Jan 11;44(1):1-2. Epub 2016 Jan 11.

Service de gynécologie-obstétrique et médecine fœtale, CHRU de Tours, 2, boulevard Tonnellé, 37044 Tours cedex 9, France; UMR Inserm U930, université François-Rabelais de Tours, 2, boulevard Tonnellé, 37044 Tours cedex 9, France.

Semin Perinatol 2016 Feb 8;40(1):67-78. Epub 2016 Jan 8.

The Center for Fetal Medicine and Women's Ultrasound, Los Angeles, CA.

Aneuploidy is a major cause of perinatal morbidity and mortality and can have a significant impact on expecting parents and their families. With early screening and diagnosis it is important to be able to educate parents regarding the potential impact of the diagnosis. This knowledge allows parents the opportunity to consider management options early in the pregnancy, permitting more time to mentally and emotionally prepare both for the course of the pregnancy, and after the birth of the child should the pregnancy continue. Read More

Pediatr Neonatol 2016 06 19;57(3):252-5. Epub 2015 Nov 19.

Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu 610041, China. Electronic address:

Am J Med Genet A 2016 Mar 21;170(3):676-87. Epub 2015 Dec 21.

Unit of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

Autosomal aneuploidies associate with multiple minor skeletal defects, which, in fetuses, are best appreciated post-mortem after specific anatomic preparations. The present study was aimed to define patterns of skeletal anomalies in autosomal aneuploidies at standard radiology in second trimester fetuses by comparing findings in and among genotypes and gestational ages. Aneuploid fetuses were selected for availability of radiographs of various axial and non-axial structures, mainly homeotic transformations, vertebral clefts, vertebral segmentation and ossification defects, absent/hypoplastic nasal bone, premature talar calcifications, and selected appendicular anomalies. Read More