Prenatal Diagnosis Of Turner Syndrome Research Articles

VP29.06: Prenatal diagnosis of Turner syndrome: locally restricted mosaicism of the placenta and severe cardiac phenotype with low‐level mosaicism 45,X/46,XX

VP29.06: Prenatal diagnosis of Turner syndrome: locally restricted mosaicism of the placenta and severe cardiac phenotype with low‐level mosaicism 45,X/46,XX

A Case of Prenatal Diagnosis of Turner Syndrome with Ultrasonography

Objective: To report a case of Turner syndrome diagnosed in prenatal care.Method: A case report.Case: Case of Mrs. Y 26-year-old woman G2P1A0L1 diagnosed on 19-20 weeks of gestation with Turner syndrome. Ultrasound examination findings were hydrops fetalis on the neck region, multiple septated cystic masses, subcutaneous edema, ascites, and hydrothorax. Subsequently, amniocentesis was performed and the chromosome analysis result showed Turner syndrome (45, X0). The patient was induced vaginal delivery on 22-23 weeks of pregnancy due to intrauterine fetal death indication. The baby was born with ambiguous genitalia, birth weight 500 grams, birth length 22 centimeters, and Apgar’s score was 0/0. The congenital anomalies discovered include subcutaneous edema, ascites, hydromacolly, and hydrops fetalis.Conclusion: Turner syndrome can be diagnosed at a prenatal period by ultrasound examination. Keywords: Turner Syndrome, Hydrops Fetalis, Ultrasonography

SAT-294 A Case of Turner Syndrome with Ambiguous Genitalia

Background: Turner syndrome is a common genetic condition caused by complete or partial absence of X chromosome. Often this condition is diagnosed prenatally. Neonates with this condition have variable presentations at birth, depending on the severity of genetic defect. Often these babies are born with cystic hygroma, facial dysmorphism, short stature and cardiac defects. They commonly present with normal female external and internal genitalia and may develop hypogonadism and streak ovaries later in life. We describe an unusual patient with prenatal diagnosis of Turner syndrome, who presented with palpable gonads and ambiguous genitalia at birth. Clinical case: Full term baby born with dysmorphic features suggestive of Turner syndrome. Prenatal testing raised suspicion for genetic defects. Amniocentesis confirmed 45X karyotype. Baby was born with cystic hygroma, bicuspid aortic valve, and congenital hypothyroidism. External genetalia were ambiguous with almost complete fusion of the labia, prominent clitoromegaly, severe hypospadias and palpable right gonad. Pelvic ultrasound failed to show any Mullerian structures. These findings raised the suspicion for mosiasm. Microarray and Blood karyotype with 50 cell count again revealed 45X karyotype. FISH analysis was negative for SRY gene and exhibited one signal for X chromosome only. Due to rising Testosterone and elevated 17-hydroxyprogesterone and anti-müllerian hormone, further testing was done. FISH analysis on fibroblast cultures was positive for SRY gene and confirmed 3/200 cells with 46XY karyotype. Male gender was assigned after mutual agreement between neonatologist, urologist, endocrinologist and parents. Gonadal biopsy and surgical correction is pending at the moment. Conclusion: The clinical phenotype of Mixed gonadal dysgenesis MGD with 45X/46XY karyotype is broad, with varying degree of genital ambiguity. The degree of genital ambiguity is not correlated with the presence and proportion of mosaic clones in different tissues. Our patient presented with somatic features of Turner syndrome, consistent with the karyotype identified in the blood. Genital ambiguity and lack of Mullerian ducts prompted further workup confirming MGD. A small number of patients with karyotype 45X/46XY can present with ambiguous genitalia and somatic features of Turner syndrome. Our case stresses out the importance of screening for a Y chromosome in cell lines other than blood in all Turner Syndrome patients and in patients with genital ambiguity.

Clinical Significance of Ultrasonography Markers in Prenatal Diagnosis of Turner Syndrome in Fetuses-90 Cases Reports

Objective: To evaluate the clinical significance of ultrasonography markers in prenatal diagnosis of Turner syndrome in fetuses.

Prenatal diagnosis of Turner syndrome: two clinical cases and a retrospective analysis of detected cases on the basis of the Stavropol Regional Clinical Consulting and Diagnostic Center from 2008 to 2018

Objective. The frequency of monosomy X is estimated. The diagnostic value of various ultrasound markers in a fetus with Turner syndrome in the first and second trimesters of pregnancy was evaluated. Materials. The database of cytogenetic studies from 2008 to 2018 of our center was analysed. Studies include invasive prenatal diagnosis and research on abortion material. Two clinical observations of Turner's syndrome identified in the second trimester of pregnancy were considered. Results. Of 3450 cytogenetic studies, 70 karyotypes of monosomy X were detected, the full form was found in 57 (81 %) cases, mosaic — 13 (19 %). The 46 karyotypes of monosomy X were non-developing pregnancies and 24 cases of invasive prenatal diagnosis. In the group of non-developing pregnancies, the complete form of monosomy X was observed in 40 (86.9 %) cases, mosaic — in 6 (13.1 %), embryo death in 73 % of cases occurred in the period of 8–9 weeks of gestation. The data of two clinical observations of Turner syndrome identified in the second trimester are presented. The finding ultrasonic markers of monosomy X in the analysed studies are considered. Conclusion. The detection of monosomy X is possible in most cases in the first trimester. However, the variability of symptoms and their severity does not always allow identify this pathology in the early stages. The search for soft markers during the second trimester ultrasound, the widespread use of echocardiography and a comprehensive assessment of all the studies performed can increase the frequency of detection of Turner syndrome.

EP04.29: Prenatal diagnosis of Turner syndrome in a case of isolated aberrant right subclavian artery

EP04.29: Prenatal diagnosis of Turner syndrome in a case of isolated aberrant right subclavian artery

Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases.

The objectives of this study were to report pregnancy outcomes after prenatal diagnosis of Turner syndrome (TS) and to compare and assess termination of pregnancy rates during two periods. The intervals selected were before and after 1997 when multidisciplinary centers for prenatal diagnosis (MCPDs) were established in France. A database of 975 cases of TS diagnosed between 1980 and 2012 was created from 21 French cytogenetics laboratories. For each case, the karyotype indication, maternal age, year of prenatal testing, sampling procedure, karyotype, associated ultrasound findings, and outcomes were recorded. Karyotypes were mainly performed because of abnormal sonographic findings (84%). Before 1997, there were no changes in the rate of termination (90%) of affected fetuses. After 1997, the rate fell to 80%. This decrease was mainly observed in cases of mosaicism, incidental diagnosis, and in later gestations. US abnormalities were more likely to be associated with a full 45,X karyotype. There was an evolution in the way genetic counseling was performed following prenatal diagnosis of Turner syndrome that coincided with the opening of MCPDs in France. This resulted in a decrease in the rate of termination of affected fetuses.

Proteomic Analysis of Amniotic Fluid in Pregnancies with Turner Syndrome Fetuses

Turner syndrome, occurring in 1:2500 female births, is caused by the complete or partial absence of one X chromosome. Amniotic fluid supernatant proteins from five second trimester pregnancies with Turner syndrome fetuses and five normal ones were analyzed by 2DE, MALDI-TOF-MS, and Western blot. Serotransferin, lumican, plasma retinol-binding protein, and apolipoprotein A-I were increased in Turner syndrome, while kininogen, prothrombin, and apolipoprotein A-IV were decreased. Since differentially expressed proteins are likely to cross the placenta barrier and be detected in maternal plasma, proteomic analysis may enhance research for noninvasive prenatal diagnosis of Turner syndrome.

Health supervision for children with Turner syndrome.

This report is designed to assist the pediatrician in caring for the child in whom the diagnosis of Turner syndrome has been confirmed by karyotyping. The report is meant to serve as a supplement to the American Academy of Pediatrics' "Recommendations for Preventive Pediatric Care" and emphasizes the importance of continuity of care and the need to avoid its fragmentation by ensuring a medical home for every girl with Turner syndrome. The pediatrician's first contact with a child with Turner syndrome may occur during infancy or childhood. This report also discusses interactions with expectant parents who have been given the prenatal diagnosis of Turner syndrome and have been referred for advice.

Health Supervision for Children With Turner Syndrome

This set of guidelines is designed to assist the pediatrician in caring for the child in whom the diagnosis of Turner syndrome has been confirmed by karyotype. Although the pediatrician's first contact with the child is usually during infancy, occasionally the pregnant woman who has been given the prenatal diagnosis of Turner syndrome will be referred for advice. Therefore, these guidelines offer advice for this situation as well. Turner syndrome, as used here, refers to a condition in which there is short stature and ovarian dysgenesis in females because of the absence of a normal second sex chromosome. Nonchrornosomal gonadal dysgenesis is excluded. The birth prevalence of Turner syndrome has been estimated to be from 1:2000 to 1:5000 female live births. About 1% to 2% of all conceptuses have a 45,X chromosome constitution. Of these, the majority (99%) spontaneously abort, usually during the first trimester of pregnancy. With the more frequent use of ultrasound, it is recognized that some pregnancies with a fetal 45,X chromosome constitution progressing into the second trimester are associated with nuchal cysts, severe lymphedema, or hydrops fetalis. These pregnancies are associated with a high frequency of fetal death. PHENOTYPE Pediatricians are most familiar with the clinical findings that prompt the diagnosis in children, namely, short stature and the classic Turner syndrome features such as lymphederna, webbed neck, low posterior hair line, and cubitus valgus. A wide range of clinical abnormalities may be found (Table 1). Turner syndrome, however, is not always accompanied by distinctive features and most often is not diagnosed in infancy.

Prenatal diagnosis of turner syndrome using cells cultured from cystic hygromas in two pregnancies with normal maternal serum alpha‐fetoprotein

In two cases of prenatally detected cystic hygroma with oligohydramnios, successful cytogenetic diagnosis of Turner syndrome was achieved using cells obtained from direct aspiration of the cystic hygroma. Exceptionally high levels of alpha-fetoprotein were found in the cystic hygroma fluid, as might be expected. However, the maternal serum alpha-fetoprotein levels were within normal limits. Elevated alpha-fetoprotein levels in 'amniotic fluid' noted previously in the literature may have resulted because of inadvertent tapping of the cystic hygroma. It is clear from our cases that maternal serum levels of alpha-fetoprotein will not necessarily be elevated and will not serve as a screening mechanism for cystic hygromas.