Patient's question:
Amniotic fluid cells are undergoing chromosome analysis. Counting one hundred cells revealed three fragments: the first one was 47, zz, +mar1?; the second one was 47, zz, +mar2?; the origin of mar could not be determined. The third one was 46, zz, -18, +mar3, with mar suspected to be a 18q- terminal fragment.Current pregnancy status and treatment history: We have undergone a triple screen and an amniocentesis, but the hospital has not been able to draw a definitive conclusion. They advised us to continue monitoring and consider cord blood sampling. What kind of help do you need: My in-laws are first cousins, and I wonder if this is the reason our child is unhealthy. Is it necessary to have cord blood sampling in addition to the above results? We have not yet been diagnosed with Down syndrome, and the whole family is on edge.
Doctor's answer:
Normal people have 46 chromosomes, 23 pairs, including 22 pairs of autosomes and two pairs of sex chromosomes. If the person is male, it is 46XY, and if the person is female, it is 46XX.Advice:
1. Your child currently has an extra chromosome segment, which could be the 21st chromosome. If so, it is what we commonly call Down syndrome, also known as trisomy 21.
2. It is still recommended to do a cord blood test. After all, there is a history of consanguineous marriage in the family. It is possible that it is related to consanguineous marriage.
Wishing your child good health! Has your wife had a thorough chromosome check?