Chromosomal abnormalities leading to infertility

The human body has gene chains and chromosomes, which are very important to us. However, everyone needs to know that chromosomal abnormalities can also lead to infertility problems. For example, if a woman has an increase in serum levels during the first few months of pregnancy or has had other diseases in her body before, these may lead to difficulties in becoming pregnant later.

Preventive Care

Chromosomal dysgenesis is difficult to treat and the results are unsatisfactory, so prevention becomes more important. Preventive measures include promoting genetic counseling, chromosome testing, prenatal diagnosis and selective abortion to prevent the birth of sick children.

Pathological etiology

Chromosomes are the carriers of genes. Chromosome diseases are chromosomal abnormalities, which lead to abnormal gene expression and abnormal body development.

Disease diagnosis

The clinical manifestations of Down syndrome caused by trisomy 21 are difficult to distinguish from those caused by chromosomal translocation. The two are strongly correlated and are related to the mother's age. Mothers of children with trisomy 21 usually give birth to children at an older age, but the incidence of chromosomal translocation is lower in both older and younger pregnant women. Subtypes of Down syndrome include mosaicism, in which some cells have normal chromosomes and some have abnormal chromosomes. Mosaic patients may have typical manifestations of Down syndrome, and some patients have normal intelligence.

Inspection method

Laboratory tests:

1. Down syndrome serological examination shows decreased serotonin, increased alkaline phosphatase in white blood cells, increased glucose diphosphate in red blood cells, and a 50% increase in superoxide dismutase, but it is not related to the patient's developmental abnormalities and mental retardation.

2. About 1/3 of the mothers of children with Down syndrome have increased serum alpha-fetoprotein levels, increased serum chorionic gonadotropin levels, and decreased estriol levels during the 4th to 6th month of pregnancy, which may indicate fetal Down syndrome. Pregnant women with positive test results should undergo amniocentesis to detect the patient's amniotic fluid cells or chromosomes.

Other auxiliary examinations:

Amniocentesis during pregnancy can reveal chromosomal abnormalities in amniotic fluid cells, which can be used for early screening of children with Down syndrome and other chromosomal dysplasia.

Chromosome examination can be performed using fluorescent in situ hybridization technique to detect the patient's amniotic fluid cells or chromosomes. For example, in Down syndrome, it can be found that chromosome 21 is triploid.