How to Handle the First High-Risk Indication of Down Syndrome

Patient's question:

I had the prenatal screening at the District Maternal and Child Health Hospital. My gestational age was recorded as 15+ weeks. During the examination, it was identified as high-risk. A week later, the doctor scheduled an amniocentesis for the following Monday. I went two weeks later, and the genetic medicine doctor arranged for blood tests and a complete blood count, saying it was possible to proceed with the amniocentesis. I went to the hospital on Monday yesterday, and the doctor ordered an ultrasound, stating that it could be done at 18+ weeks. After much effort, it was finally my turn for the ultrasound. When I lay down, the doctor performing the ultrasound told me it was only 17+ weeks, and it couldn’t be done yet. They said to come back in a month. I went back to the genetic medicine department and the doctor said it might have been an error in calculating the gestational age. They asked me to show them the ultrasound from the first time I knew I was pregnant. It turned out that on that day, the gestational age was only 14+ weeks. So they asked me to go back to the genetic laboratory for recalculation. This morning, the calculation showed low risk. I am very confused. What should I do? Which should be considered the final result?

Doctor's answer:

Generally, gestational age and expected delivery date are calculated based on the last menstrual period. When the normal menstrual cycle is irregular, gestational age should be calculated according to the results of early pregnancy ultrasound. Guideline: Based on your description above, the actual gestational age should be over 14 weeks, and the risk of Down syndrome screening is low, indicating a small possibility of giving birth, so amniocentesis and fetal chromosome testing are not necessary. Regular obstetric examinations are sufficient.

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