Patient's question:
After pregnancy, an examination revealed fetal abnormalities, and a miscarriage was performed. After the miscarriage, cord blood testing was conducted, and the result showed a chromosomal abnormality of 45X. What is the cause of the chromosomal abnormality?Doctor's answer:
Hello, 45X is Klinefelter syndrome, which is characterized by intellectual disability, developmental delays, multiple congenital anomalies, and more. Fetal chromosomal disorders are often fatal in utero, and patients may have a history of multiple recurrent miscarriages. Chromosomal abnormalities account for about 50% of early natural miscarriages, while they only account for 0.5% in newborns. Most chromosomal disorders are caused by chromosomal abnormalities in parental germ cells, with a small number caused by balanced translocations carried by one parent. In such cases, the recurrence risk should be determined based on karyotype analysis of the patient and their parents. It is generally believed that nondisjunction is related to the parents' age at conception, especially the mother's age. To prevent this, it is important to avoid high-risk factors, avoid exposure to radiation and toxins, and avoid taking medications that can cause karyotype abnormalities during the next pregnancy. Pay attention to dietary hygiene, enhance physical fitness, and avoid viral infections and contact with infected individuals. Additionally, during pregnancy, regular ultrasound examinations and prenatal diagnosis should be conducted to detect chromosomal diseases using amniotic fluid, chorionic villus cells, and fetal blood cell cultures. Genetic testing can also be performed to detect DNA.