Moderate associated fetal ventriculomegaly: prenatal diagnosis

Ventriculomegaly (VM) is a descriptive term, indicating the enlargement of the ventricles of the brain. We present the case of a 32-year-old primiparous women, at 18 weeks of pregnancy, who was referred in our clinic for a routine prenatal ultrasound examination. The ultrasound scan highlighted a single malformed fetus with several major abnormalities of the fetal head: hypoplastic nasal bone, agenesis of corpus callosum, choroid plexus hyperplasia, solid hypoechoic mass on the external wall of the left ventricle, no visible cavum septum pellucidum, third ventricle visible, moderately enlarged and VM with evolution to bilateral hydrocephalus. The parents were informed about the major severity of anomalies and decide to terminate the pregnancy. Prenatal ultrasound examination was decisive in the early prenatal diagnosis and optimized management of the malformed fetus with VM

The Utility of Antenatal Ultrasound in intrauterine Early Diagnosis of an Autosomal recessive Polycystic Kidney Disease in Fetus

We report a case of a 31 year old female. Ultrasound examination showed bilateral hyperechoic kidneys with multiple cysts and poor corticomedullary differentiation. The kidneys were increased in size and color Doppler showed normal bilateral renal arteries present. Amniocentesis was performed and the fetal chromosomal analysis highlighted an inversion at the 6p12.2. Further genetic investigations were done. Both parents were karyotiped and showed an inversion at the 6p12.2, typically for the PKHD1 gene location. After genetical councelling the parents decided to terminate the pregnancy. The autopsy confirmed the ultrasound findings

A Dandy-Walker Variant Prenatally Diagnosed Using Ultrasound on One of the Fetuses of a Twin Pregnancy Obtained through In Vitro Fertilization

We present the case of a patient aged 42 years, who was sterile of undiagnosed nature and who resorted to IVF, as a last resort to get pregnant. Following this procedure, a twin pregnancy resulted. Ultrasound investigation, of the "second opinion" type performed using a Voluson E8 ultrasound 4D module highlighted: twin pregnancy 34.1 weeks old in evolution; A female fetus without visible malformations on the ultrasound, estimated weight of 2,300 g; B female fetus with borderline ventriculomegalia and vermis hypoplasia with Dandy-Walker cyst appearance, plus a rare malformation association, hypotelorism. Estimated fetal weight is 2,500 g. It is the first case described in the specialized literature of a version of Dandy-Walker syndrome prenatally diagnosed on one of the fetuses of a twin pregnancy, resulting from in vitro fertilization. The probable etiology of the malformation is genetic, hence the need for careful supervision of all high-risk pregnancies and the need of genetic counseling and consultation, with the final aim of limiting the appearance of affected newborns

Omphalocele and Intrauterine Growth Restriction, an Unusual Association of two Congenital Syndromic Malformations

We report a case of a 30 year old pregnant woman. Ultrasound examination showed severe intrauterine growth restriction (IUGR) and an omphalocele. Amniocentesis was performed and the fetal chromosomal analysis showed mosaic trisomy 18. Further genetic investigations were done. The pregnancy was terminated one week later. Autopsy confirmed the ultrasound images findings. Our presentation is a very rare case report of mosaic trisomy 18, prenatal diagnosis, with important an anusual association of two congenital malformation, omphalocele and intrauterine severe growth restriction

Importance of ultrasound investigation in the early prenatal diagnosis of an Oral-Facial-Digital Syndrome Type I: a new case report

We report a case of a 29 year old female. Ultrasound examination showed a fetus with: cleft lip and cleft palate, ocular hypertelorism, polydactyly and polycystic kidney. Amniocentesis was performed and the fetal chromosomal analysis indicated a normal cytogenetic female, karyotype: 46XX. Further genetic investigations were done. After genetical counseling the parents decided to terminate the pregnancy. The autopsy confirmed the ultrasound findings

The Potential of Prenatal Diagnosis in the Early Detection of Congenital Malformations

We present a unique association of fetal malformations very early diagnosed by ultrasound examination, at 14 weeks of gestation. A 28-year-old pregnant female, was addressed in a private medical center from Bucharest, Romania, for a routine ultrasound screening. A detailed ultrasound evaluation of the fetus showed numerous and significant cephalic and heart malformations. The ultrasound examination of the fetal head suggest the diagnosis of fetal lobar hydrocephalus, and the ultrasound examination of the fetal heart suggest the transposition of the great vessels. The parents were informed about the severity of the fetal malformations and decided to terminate the pregnancy due to medical reasons. Anatomopathological examination confirmed the prenatal diagnosis. First trimester ultrasonography was crucial in the early prenatal diagnosis and management of the malformed fetus with a unique association of fetal malformations

Trisomy 13 mosaicism syndrome with atypical plurimalformative phenotype

Introduction: Orofacial clefts are important congenital malformations of the lip, palate, or both caused by complex genetic and environmental factors. Aims and Objectives: The present study aims to highlight the phenotypic heterogeneity of trisomy 13 mosaicism. Material and Methods: We present one clinical case of a 30-year-old, Caucasian woman who is pregnant for the first time. Techniques of work study: anamnesis, clinical examination, serological tests for Toxoplasmosis, Rubeola, CMV and Herpes, ultrasound examination at 20 weeks gestation with General Electric Echographe Voluson E10 BT18, amniocentesis, fetal chromosome analysis and genetic counseling. Results: Ultrasound examination showed a viable singleton fetus with intra-uterine growth restriction, oligohydramnios, bilateral cleft lip and cleft palate, hypoplastic nasal bone and bilateral polycystic kidneys. Amniocentesis was done, and the fetal chromosomal analysis revealed a fetus with 46, XY/47, XY,+13 mosaic karyotype. After a complex genetic counselling the parents opted, to terminate the pregnancy. The autopsy confirm the prenatal ultrasound diagnosis. Conclusion: Routine ultrasound examination during pregnancy and specific genetic testing are essential for the early prenatal detection of major structural fetal anomalies associated with rare genetic chromosome syndromes

Twin Pregnancy discordordant for Downs syndrome: Case Report

The work presented is a clinical and genetical trial of a couple with a reproductive failure and a family history of chro-mosomal abnormalities. The most reliable and accurate methods used for antenatal diagnosis of Down syndrome fetuses are highlighted

Phenotypic heterogeneity of impacted third molar tooth: family case study

Tooth impaction is a pathological condition where a tooth fails to attain its normal functional position. The present study aims to highlight the phenotypic heterogeneity of impacted third molars in a Caucasian family, to investigate the characteristics of the dental phenotype, to evidence the diversity of dental phenotype, and to identify the inheritance mode of the condition. Detailed anamnesis, clinical examination, complementary tests (panoramic radiographs), family study and pedigree analysis. Phenotypic characteristics of impacted third molar tooth in our family case report was: Severe horizontal impaction of the mandibular right third molar, Angular impaction of the maxillary right third molar and angular impaction of the maxillary left third molar, Angular impaction of the mandibular left third molar and partial eruption of the maxillary right third molar, Horizontal impaction of the mandibular left third molar and Angular impaction of the mandibular left third molar. The inheritance mode of the impacted third molar tooth in the family case report was: from mother to both daughters’ transmission, from mother to both sons’ transmission, and from mother to daughter transmission. Family study and pedigree analysis are very important for illustrate the genetic basis of impacted teeth

Early prenatal ultrasonographic diagnosis and follow up treatment of a giant abdominal hemangioma: a rare case report

We report the rare case of a fetus diagnosed in utero as early as 16 weeks with a growing lateral abdominal wall hemangioma. Ultrasonography confirms space occupying lesion and Colour Doppler ultrasound examination proves the vascularity of lesion. Fetal MRI was performed at 27 weeks and confirmed the localization, neither of the internal organs being affected and no other hemangiomas being detected. The baby was delivered at 36 weeks after premature rupture of membranes and transferred to the pediatric department. Angiography was performed and after further analysis the baby was referred for surgical treatment. Surgery was a success and the baby came for the routine 6 months check up