Fetal Santral Sinir Sistemi Anomalilerin Prenatal Tanısı, Neonatal Sonuçlarının, Postnatal Kısa ve Uzun Dönem Sonuçlarının Retrospektif Olarak İncelenmesi

Abstract

Central nervous system anomalies are frequent major fetal anomalies. In our thesis study, we aimed to investigate obstetric and neonatal outcomes of pregnancies that get diagnosed with fetal central nervous system anomalies in prenatal period and presented the postnatal short-term and long-term outcomes of newborns. 725 patients who get diagnosed in prenatal period are included in our study. Neural tube defects (NTD) were the most common central nervous system anomalies (%34.7), while ventriculomegaly (VM) was the second most common anomaly (%31.4), in our study cohort. In 26% of central nervous system anomalies additional anomalies have been found other than central nervous system and chromosomal anomalies have been detected in 4.4% of the cases. Fetal MRI was consisted with the ultrasound findings at the 90.2% of the cases. VM was the most common Fetal MRI indication (%33.7). Rate of isolated mild, moderate and severe ventriculomegaly was 43%, 10% and 47%, respectively. We have concluded that increased severity of VM was associated with decreased live birth rate and increased rates of NICU requirement, ventriculoperitoneal shunt (VP) implementation and mortality. 16.5% of isolated spina bifida patients had meningocele , while the 83.5% had meningomyelocele. All newborns who had spina bifida required NICU hospitalization. None of the cases with myelocele required VP shunt implementation, while 67.2% of meningomyelocele cases required VP shunt. Lower motor neuron, urinary and anal sphincter dysfunction was not detected in meningocele cases, but meningomyelocele patients have some type of dysfunction in 80-90% of the cases. Live birth rates, total mortality, intelligence and academic performance were similar according to our data. 58.8% of corpus callosum agenesis (CCA) cases have been asymptomatic in long-term, 17.6% have severe neurodevelopmental retardation and severe mental retardation, 11.8% have attention deficit, 5.9% have epilepsy and 11% have been taking special education. VM was detected in 70% of CCA patients, and presence of VM has an impact on prognosis. In conclusion, detailed ultrasonography and karyotype analysis must be performed for the pregnancies who get diagnosed with fetal central nervous system anomaly. Central nervous system anomalies are critical pathologies that result in mortality and morbidity. The severity of VM is one of the most important criteria for determining the prognosis. Meningomyelocele requires NICU hospitalization, surgical intervention, long-term treatment and rehabilitation which result in financial burden and distress for families. Clinical outcomes of CCA vary from asymptomatic cases to severe neurodevelopmental disability and unpredictable. All these entities must be considered in prenatal counseling.