Report of a pregnant woman with mosaic Turner syndrome

Spontaneous pregnancy in women with Turner syndrome is rare (5%) and relative- ly high risk. A number of methods to preserve fertility in such women have been discussed. Careful follow-up is required during these pregnancies due to the high incidence rates of neonatal, obstetric, maternal, and cardiovascular complications. A 39-year-old multigravid woman (G5, P3, A2) with mosaic Turner syndrome with a history of three spontaneous pregnancies and two miscarriages was evaluated at our clinic. The analysis showed mos 45,X [9]/46,XX [38] mosaic Turner syndrome. Her first and fourth pregnancies resulted in miscarriages during the first trimester. Here, we discuss a pregnant woman with mosaic Turner syndrome with unaffected fertility but with a history of spontaneous pregnancies/miscarriages, with reference to the current literature.

The evaluation of children with cerebral palsy admitted to the pediatric neurology outpatient department

Objective: Cerebral palsy (CP) is a neurological condition that occurs as a result of non-progressive damage in the immature brain and is characterized by impairment of muscle tone and posture. This study aims to evaluate the risk factors and imaging findings of patients with CP. Material and Methods: Medical records of patients with CP at the Pediatric Neu- rology Clinic of Cerrahpasa Medical School were evaluated retrospectively. Demo- graphic and clinical characteristics were collected from medical records: Gestational age, birth weight, intrauterine growth retardation (IUGR), delivery mode, type of CP, risk factors, accompanying diseases, computed tomography (CT), magnetic reso- nance imaging (MRI), and electroencephalography findings were recorded. Results: A total of 169 patients were enrolled in the study. The mean age at diag- nosis was 27.3±26.1 months. One hundred eight (66.2%) patients were term and 55 (33.7%) were preterm. The delivery mode was vaginal in 99 (58.6%) cases and cesarean section in 70 (40.4%) cases. Ninety-six cases (56.8%) were male and 73 (43.2%) were female. Birth weights were <2500 g in 59 cases (34.9%) and 2500–4500 g in 110 cases (65%). The types of CP were spastic (n=144, 86%), dyskinetic (n=13, 7.7%), mixed (n=6, 3.6%) and ataxic-hypotonic type (n=5, 3%). In subgroup analysis, 65 (38.5%) cases were quadriparetic, 43 (25.6%) cases were diplegic, 35 (20.7%) cases were hemiparetic, and 2 (1.2%) cases were monoparetic. The reasons for CP were asphyxia (n=99, 58.9%), low birth weight (n=61, 36.1%), prematurity (n=55, 32.5%), hyperbilirubinemia (n=16, 9.5%), meningitis (n=7, 4.1%), intracranial vascular processes (n=7, 4.2%), sepsis (n=6, 3.6%), hydrocephalus (n=5, 3%), genetic anom- alies (n=5, 3%), and hypoglycemia (n=1, 0.6%). No risk factors could be determined in eight (4.7%) cases. Imaging techniques (CT and/or MRI) showed encephalomala- cia, which was considered as the main finding of hypoxic-ischemic encephalopathy, in 45 (26.6%) cases. Imaging results of 15 (8.9%) patients were normal. Conclusion: This study results showed that asphyxia, low birth weight, and prema- turity are the main reasons for the development of CP. Encephalomalacia is the most common imaging finding, but imaging may be also normal in some patients with CP.

Prenatal diagnosis and management of hypoplastic left heart syndrome: Single center results

Objective: Hypoplastic left heart syndrome (HLHS) is the most common reason for neonatal deaths among congenital heart defects. Numerous studies showed that pre- natal diagnosis improves prognosis. We aimed to review the prenatal assessment of associated extracardiac anomalies, postnatal outcomes, and surgical management in cases of HLHS that were detected in our center. Material and Methods: The records of patients diagnosed with HLHS evaluated be- tween March 2017 and April 2020. A detailed anatomy scan was performed, and karyotype analysis was recommended to all patients. Due to poor perinatal prognosis, termination of pregnancy (TOP) was offered an option to families. Serial ultrasono- graphic examinations every 2–4 weeks. Postnatal echocardiography was performed, and the prenatal diagnosis was confirmed in all offspring. Surgical outcomes were recorded. Results: Sixteen patients were recruited in our study. The mean gestational age at diagnosis was 20.2±5.1 weeks. About 68.7% of cases were defined as classical type HLHS, and the remaining 31.3% were determined as variant type HLHS. TOP was performed in 9 (56.7%) patients. The mean follow-up interval was 16.4±4.7 months. Urge septostomy was performed in 2 (28.5%) cases after birth due to foramen ovale restriction. Three (42.8%) cases died before the first operation. Norwood procedure was performed in 4 (57.1%) cases. Two cases died after this operation. Glenn shunt and Fontan procedure were performed in the remaining two offspring. The total sur- vival rate was 28.5%. Conclusion: HLHS has high perinatal morbidity and mortality. Prenatal diagnosis allows the family for the fate of pregnancy and planned delivery in a tertiary center.