Discuss the care of children with Down syndrome and the importance of screening during future pregnancies.

Understand the treatment and daily care for hemophilia, and get professional answers to patients’ questions.

A woman underwent ultrasound examinations at 5 months and 4 months during her two pregnancies, both times revealing underdeveloped brain and kidney areas in the fetus, leading to abortions. She inquires whether this condition is related to chromosomal abnormalities in her or her partner, and if confirmed, whether they can still have a healthy child.

For adolescents with a family history of kidney disease, how can hereditary nephritis be diagnosed through tests and differentiated from other kidney diseases?

The diagnosis of hypophosphatemic rickets mainly involves genetic factors, including X-linked inheritance, autosomal dominant inheritance, and various types.

Phenylketonuria (PKU) is a common amino acid metabolism disorder. How can dietary intervention and medication treatment be used to control the condition?

Explore the treatment methods and preventive measures for Down syndrome, and understand the impact of genetic factors on this condition.

Gilbert’s syndrome typically does not require special treatment, but it is recommended to undergo genetic testing to ensure accurate diagnosis.

Discussing methods to improve the condition of Down syndrome patients, emphasizing the importance of early diagnosis and treatment.

Thalassemia is a group of genetic hemolytic anemias that require management through interfering with iron drug utilization and adjusting the diet. Severe cases may require repeated surgical treatments to maintain hemoglobin levels between 6-8 grams per deciliter, in order to maintain normal physiological function.