Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.

Introduction: Counseling osteogenesis imperfecta (OI) pregnancies is challenging due to the wide range of onsets and clinical severities, from perinatal lethality to milder forms detected later in life.

Methods: Thirty-eight individuals from 36 families were diagnosed with OI through prenatal ultrasonography and/or postmortem clinical and radiographic findings. Genetic analysis was conducted on 26 genes associated with OI in these subjects that emerged over the past 20 years; while some genes were examined progressively, all 26 genes were examined in the group where no pathogenic variations were detected.

Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.

Multiple congenital contractures (MCC) due to fetal akinesia manifest across a broad spectrum of diseases, ranging from mild distal arthrogryposis to lethal fetal akinesia deformation sequence. We hereby present a series of 26 fetuses displaying severe MCC phenotypes from 18 families and describe detailed prenatal ultrasound findings, postmortem clinical evaluations, and genetic investigations. Most common prenatal findings were abnormal facial profile (65%), central nervous system abnormalities (62%), polyhydramnios (50%), increased nuchal translucency (50%), and fetal hydrops (35%).

Predictive value of ultrasound in prenatal diagnosis of hypospadias: hints for accurate diagnosis.

Objectives: This study aims to assess the diagnostic accuracy of targeted ultrasound examination in prenatal diagnosis of hypospadias and to evaluate the predictive values of defined ultrasonographic findings of hypospadias.

Methods: The cases diagnosed with hypospadias in our fetal medicine center were identified on an electronic database. The ultrasound reports, images and hospital records were reviewed retrospectively.

Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome.

Introduction: GDF5-BMPR1B signaling pathway-associated chondrodysplasias are a genetically heterogeneous group of conditions with significant phenotypic and genotypic overlap, consisting of Hunter-Thompson-type acromesomelic dysplasia, Grebe dysplasia, and Du Pan syndrome. Constituting a spectrum of clinical severity, these disorders are characterized by disproportionate short stature mainly involving middle and distal segments of the extremities. Du Pan syndrome represents the mildest end of this spectrum with less marked shortened limbs, fibular agenesis or hypoplasia, absence of frequent joint dislocations, and carpotarsal fusions with deformed phalangeal bones.

Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal Anomalies.

The scope of cell-free DNA (cfDNA) testing was expanded to the genome, which allowed screening for rare chromosome anomalies (RCAs). Since the efficiency of the test for RCAs remains below the common aneuploidies, there is a debate on the usage of expanded tests. This study focuses on the confirmatory and follow-up data of cases with positive cfDNA testing for RCAs and cases with screen-negative results in a series of 912 consecutive cases that underwent invasive testing following cfDNA testing.

Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis.

Objective: Blomstrand osteochondrodysplasia (BOCD, MIM #215045) is an ultrarare lethal skeletal dysplasia (LSD) perinatally, characterized by extremely advanced bone maturation, generalized osteosclerosis, and severe tetramicromelia caused by biallelic loss-of-function mutations in the parathyroid hormone receptor-1 gene (PTHR1). We aim to describe prenatal ultrasonographic features in a retrospective fetal case series of BOCD and emphasize the importance of multidisciplinary antenatal evaluation of LSDs to improve the differential diagnosis.

Method: Prenatal ultrasound findings of five fetal cases diagnosed with BOCD between 2000 and 2019 in the Prenatal Diagnosis Unit and Medical Genetics were reviewed, along with postmortem examination results and confirmatory molecular results.

The effects of early or late multifetal reduction procedure on perinatal outcomes in multiple pregnancies reduced to twins or singletons: A single tertiary center experience.

Objective: The aim of the study was to compare the effect of early or late fetal reduction (FR) procedures on perinatal outcomes in multiple pregnancies reduced to twins or singletons.

Study Design: This retrospective cohort study consisted of data from a single tertiary center between January 2013 and December 2020 and included 103 women with multiple pregnancies between 8 and 14 gestational weeks and who underwent FR by transabdominal approach. Late FR was defined as 11-13 6/7 gestational weeks (Group L) and early FR was defined as 8-10 6/7 gestational weeks (Group E) in the study.

The Giant Infantile Fibrosarcoma of Fetal Oropharynx and Anterior Neck.

Infantile fibrosarcoma (IFS) usually arises in the extremities during the first 12 months of life and responds well to surgery. It is unusual in the oropharynx or the prenatal period. A giant solid mass was first detected in the oropharynx and anterior neck at 24 weeks of gestation by ultrasound and fetal MRI.

Prenatal Diagnosis and Management of Ectopia Cordis: Varied Presentation Spectrum.

Background: Ectopia cordis (EC) is a congenital anomaly associated with heart defects and extracardiac malformations.

Objectives: We determined the various presentations of EC diagnosed in our center between 2010 and 2017.

Results: Seven fetuses from six pregnancies with EC were detected, five during the first trimester.

Follow-Up Studies of cf-DNA Testing from 101 Consecutive Fetuses and Related Ultrasound Findings.

Purpose:  To determine the true- and false-positive rates of cf-DNA testing in a cohort of patients from tertiary care centers and assess the impact of ultrasound examinations in pregnancy management.

Materials And Methods:  Clinical, cytogenetic and ultrasound data of 101 consecutive fetuses were collected retrospectively. Cases were classified into five groups according to the ultrasound findings.

Incidence of an Aberrant Right Subclavian Artery on Second-Trimester Sonography in an Unselected Population.

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.

Intrapericardial diaphragmatic hernia: report of 2 cases with prenatal diagnosis.

An intrapericardial diaphragmatic hernia is a very rare congenital abnormality, with only a few cases reported in the English literature. The triad includes a massive pericardial effusion, bilateral pulmonary compression with or without pulmonary hypoplasia, and herniation of part of the liver into the pericardium. We report 2 cases of intrapericardial diaphragmatic hernias diagnosed prenatally in our obstetrics and gynecology unit.