Patient's question:
Do I still need an amniocentesis after an NIPT? I am a first-time mother, 26 years old. At 16 weeks and 3 days, I had a mid-trimester screening, and the risk rate for Down syndrome was 1/543. The doctor said that although it is considered low-risk, the result is close to the critical value and recommended an amniocentesis. Because I was afraid of the amniocentesis, I had an NIPT at 18 weeks. Two weeks later, I received a normal NIPT result. There were no other abnormalities. At 26 weeks, I had an anomaly ultrasound, and it showed a point-like strong echo in the left ventricle and a side width of 8 mm in the right lateral ventricle. The doctor said it is related to Down syndrome.Doctor's answer:
Disease Analysis: Non-invasive prenatal testing (NIPT) can accurately detect chromosomal diseases such as Down syndrome (T21). However, there are no absolute guarantees.Medical Advice: The width of the right lateral ventricle is 8 mm. The doctor may suspect hydrocephalus, but it does not meet the current standards. It is recommended to follow up to see if there is any enlargement. Generally, hydrocephalus in the ventricular system is often associated with abnormalities, but it does not necessarily mean there is a direct correlation. Some cases can resolve on their own. If there are obstructions or other abnormalities in the (choroid plexus) of the ventricles, it may lead to enlarged hydrocephalus. The point-like echoes in the ventricles are not very meaningful, as some can disappear on their own. It is advised to continue monitoring. Currently, there are no better solutions.