Learn about the preventive measures for Down Syndrome, including prenatal counseling and diagnosis, as well as the impact of age on the risk of the condition.

The Role of Pre-Marital Exams in Preventing Birth Defects

Inquire about the probability of generational inheritance of Marfan syndrome and confirm if the child is a Marfan syndrome patient

A girl born on January 12, 2009, was diagnosed with neonatal anemia and suspected to have Mediterranean anemia during her medical treatment. How can a definitive diagnosis be made?

The newborn undergoes a heel prick test seven days after birth, with both the initial and follow-up tests showing an abnormal phenylalanine concentration, causing concern among parents about the possibility of phenylketonuria. After further detailed examination, the results were normal, but the phenylalanine concentration was still slightly elevated.

Supplemental Therapy and Symptom Management for G6PD Deficiency

Albinism is a genetic disorder caused by a lack or malfunction of tyrosinase, leading to a lack of pigment in the skin, hair, and eyes. Children may be suspected of having the condition due to their yellowish hair, eyebrows, and eyelashes, blue irises, and pale skin. Parents can take their child to the hospital for a chromosome test to confirm the diagnosis.

Down Syndrome is a genetic disorder caused by chromosomal abnormalities, with primary symptoms including intellectual disability, distinctive facial features, and immune system issues.

Pediatric cat cry syndrome is a genetic disorder present at birth, characterized by symptoms such as a meowing cry in neonates, along with possible growth and development delays, distinctive facial features, and heart-related abnormalities. Although there is no cure, the condition can be managed through regular medical check-ups, intellectual games, and physical exercises to protect the child and reduce the occurrence of other symptoms.

The diagnosis of Down Syndrome is not limited to single palmar creases; it also requires a combination of other symptoms for chromosomal analysis.