Diagnosis and treatment methods of phenylketonuria and their importance

A pregnant woman discovered fetal abnormalities through an ultrasound at 30 weeks of pregnancy, with a biparietal diameter of 78 millimeters, abdominal circumference of 71 millimeters, femur length of 48 millimeters, and amniotic fluid of 83 millimeters. She inquires about the possibility of cartilage dysplasia and how to handle the situation.

The risk of Down syndrome is 1 in 812, the risk of trisomy 18 is 1 in 42,321, and the risk of an open neural tube defect is 1.07. Do you need to undergo non-invasive prenatal testing (NIPT)?

Interpreting Down Syndrome Screening Results and Recommendations

Down syndrome screening involves testing the levels of alpha-fetoprotein, human chrionic gonadotropin (HCG) hormone, and free estriol in the mother’s serum to assess the risk of fetal congenital defects. If the results indicate a high risk, further tests such as amniocentesis or non-invasive prenatal testing may be required to determine the fetus’s health status.

With a Down Syndrome screening risk of 1 in 700, do you need an amniocentesis?

Causes of Fetal Abdominal Wall Defects and the Probability of Diagnostic Errors

Inquiry into whether a fetus with hydranencephaly during pregnancy has normal fetal movements, and how to handle the situation.

Prenatal diagnosis of genetic metabolic diseases requires identifying the disease type and locating the causative genes.

The Down syndrome screening results indicate a 1 in 460 risk value for trisomy 21, falling within the critical risk range. The risk value for trisomy 18 is 1 in 100,000, considered low risk. The risk for an open neural tube defect cannot be calculated. It is recommended to undergo amniocentesis to determine the fetus’s health.