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.

Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.

Objective: Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments. More than 40 genes have been associated with Joubert syndrome. We aim to describe a group of Joubert syndrome patients clinically and genetically emphasizing organ involvement.

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.

Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey.

We report on 314 fetal cases from 297 unrelated families with skeletal dysplasia evaluated in the postmortem period from 2000 to 2017 at a single clinical genetics center in İstanbul, Turkey. The definite diagnostic yield was 40% during the prenatal period, while it reached 74.5% when combined with postmortem clinical and radiological evaluation.

Intertwin membrane cord insertion in dichorionic twin pregnancy: The description and comparison with other umbilical cord insertion types.

Purpose: Multiple pregnancy is associated with high perinatal mortality and morbidity. Abnormal cord insertions more common in twin pregnancies compared to singleton pregnancies and velamentous cord insertion is related with poor pregnancy outcomes. There is no definition of velamentous cord insertion into the intertwine membrane between two fetuses in the literature.

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.

Prenatal diagnosis and outcome of unilateral multicystic kidney.

We reviewed the records of 144 patients. The mean gestational age at first US diagnosis was 27.5 ± 4.

Prenatal ultrasonographic findings of adhesion-membrane complex and its relation with obstetric history.

Intrauterine adhesions are usually detected incidentally during routine obstetric ultrasound and remain one of the reasons for concern for both clinicians and patients. Our objective was to document ultrasonographic findings of intrauterine adhesions detected in obstetric ultrasound and to investigate their correlation with obstetric history. Detailed scans were performed in 685 singleton pregnancies at 16-24 weeks' gestation.

Prenatal diagnosis of complete penoscrotal transposition with normal scrotum: Two case reports and review of the literature.

Complete penoscrotal transposition is an extremely rare congenital anomaly and is usually associated with other urinary system abnormalities. Prenatal diagnosis is feasible by demonstrating perineal anatomy and its relation with scrotum and phallus. We describe two prenatal cases presenting with oligohydramniosis and megacystis due to lower urinary tract obstruction.

Antenatally detected ureterocele: Associated anomalies and postnatal prognosis.

Objective: We purposed to review prenatal diagnoses of ureterocele, to determine the sonographic findings and additional abnormalities, and to illustrate the pregnancy outcomes of these patients.

Material And Methods: We reviewed the records of 24 patients with the diagnosis of ureterocele in our referral center between January 2010-March 2017. Prenatal sonographic findings, antenatal course, and postnatal follow-up were obtained.

Utilization of neurosonography for evaluation of the corpus callosum malformations in the era of fetal magnetic resonance imaging.

Aim: We evaluated the ability of fetal neurosonography and magnetic resonance imaging (MRI) to asses callosal anomalies (CA) and associated cranial malformations. We also aimed to determine the long-term prognosis of the cases.

Methods: Thirty-six cases of CA diagnosed combined with neurosonography and MRI between January 2012 and October 2017 were retrospectively reviewed.

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.

Pregnancy in liver transplant recipients: A single center outcomes.

Aim: Liver transplantation (LT) is the only effective treatment for the end-stage liver disease. Although pregnancy after LT is considered to be safe, these patients are difficult to manage for obstetricians. In this study, we aimed to determine maternal and fetal outcomes in pregnancies after LT.

Evaluation of fetal subarachnoid space using transabdominal ultrasonography and normal values during pregnancy.

Objectives: To determine the feasibility of evaluating the subarachnoid space by measuring two novel sonographic parameters in axial section using transabdominal ultrasound, in addition to the parameters previously defined in coronal section, and to construct a normal range for the subarachnoid space width in singleton healthy fetuses.

Methods: Healthy pregnant women between 20 and 29 weeks were scanned using transabdominal ultrasound. Four variables were measured for the evaluation of subarachnoid space width; sinocortical width and anterior craniocortical width in coronal plane, and lateral and posterior craniocortical width in axial plane.

Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous: Report of 2 Cases and Review of the Literature.

Persistent hyperplastic primary vitreous is a spectrum of congenital ocular abnormalities characterized by leukocoria, microphthalmia, cataracts, extensive intravitreal hemorrhage, persistence of the hyaloid artery, glaucoma, and retinal detachment. It might be isolated or associated with congenital syndromes such as trisomy 13, Walker-Warburg syndrome, and Norrie disease. We present 2 cases of persistent hyperplastic primary vitreous diagnosed by prenatal sonography in the early third trimester.

Comparison of perinatal outcomes of selective termination in dichorionic twin pregnancies performed at different gestational ages.

Objective: To determine the perinatal outcomes of selective termination in dichorionic twin pregnancies discordant for major but non-lethal fetal anomalies performed at different gestational ages.

Methods: Thirty-one dichorionic twin pregnancies that underwent selective termination for discordant major but non-lethal fetal anomalies between January 2004 and February 2015 were retrospectively reviewed. The patients were grouped into three, according to the gestational age at which selective termination of pregnancies was performed; Group 1 (15-19 weeks), Group 2 (20-24 weeks) and Group 3 (30-33 weeks).

Prenatal diagnosis of tethered spinal cord associated with sacrococcygeal teratoma.

Tethered spinal cord is mostly caused by myelomeningocele and lipomyelomeningocele, while dermal sinus tract, diastematomyelia, lipoma, tumor, thickened/tight filum terminale, spinal trauma, and spinal surgery are among the other causes. Prenatal diagnosis of tethered cord has been reported, and it is usually associated with neural tube defects. We present an atypical presentation of a tethered spinal cord, which was associated with a sacrococcygeal teratoma and was diagnosed in the 23rd week of pregnancy by ultrasonography.

Sonographic depiction of fetal ureters.

Aims: Classic literature states that the fetal ureter should not be visible unless dilated. Our main objective was to produce an effective, reproducible method for fetal ureter depiction during an anatomic survey. Our secondary objectives were to record the frequency of visible ureters among normal fetuses and among fetuses with mild pyelectasis and also to determine the diameter of the sonographically demonstrated ureter.

Fetal nasal bone hypoplasia in the second trimester: Comparison of diagnostic methods for predicting trisomy 21 (Down syndrome).

Purpose: The aim of this prospective observational study was to identify the best method for use in diagnosing fetal nasal bone (NB) hypoplasia in the second trimester as a means of predicting trisomy 21 (Down syndrome).

Methods: The NB length (NBL), NBL percentiles, and NBL multiple-of-median (MoM) values and the biparietal diameter-to-NBL ratios were calculated and compared in an attempt to identify the best predictive method and most appropriate cutoff value. Predictive values for several cutoff points were calculated.