A friend of mine is pregnant and was told the baby has chromosome 13 & 18 deficiencies. What does this mean?

Question

She is 12wks. along, and had a blood test for abnormalities. She is 40 and waiting until 16wks. for an amnio of the babies brain fluid. Should she be worried? What kind of abnormalities could there be?

Answer 1

when the doctor performs the "down syndrome" test it is actually testing for chromosomal abnormalities in general. Down syndrome, which is trisomy 21, is the most common. The next 2 that are common, yet not so common as down syndrome are patau and edwards syndrome, or trisomy 13 & 18. Children with these disorders are more adversely affected than children with down syndrome. Most dont live beyond the first year of life. What the doctor is saying is that the test that was performed at 12 weeks is showing some of the signs of the fetus having either trisomy 13 or 18....an amnio at 16 weeks will give her a better idea of the baby having either one of these disorders. Do a search on Patau or Edwards syndrome to give you a better idea of what the doctor is talking about or a search about receiving a prenatal diagnosis of the disorder.

Answer 2

No, she should not worry, not yet. SO MANY TESTS ARE NOT ACCURATE! They cause worry, stress and un-needed anxiety in mothers-to-be. I KNOW BECAUSE I WAS TOLD THAT MY SON HAD A PROBLEM WITH HIS UMBILICAL CORD, an abnormality that is usually associated with down syndrome, and I was so confused, worried, and stressed. My baby is absolutely perfect. Tell her that she needs to trust in her doctor. Get a second opinion. If they found this in the blood, tell her to ask her doctor to recommend someone that she could go to for a second opinion. Do the amnio test, that's fine, but know that so many tests come back and are not accurate. Also check out the link below, if it helps any. God bless.

Answer 3

I would not panic about the blood test since that test is not very accurate. the amnio will tell the real story. It stinks waiting for the results. I had an amnio done also and it is a long 10 days waiting for the results. I hope all goes well for her.

Answer 4

Here is what I found.....

multiple congenital anomalies, mental retardation, developmental delay, and an increased frequency of upper and lower respiratory infections and deficiency of all blood lymphocyte populations. Chromosome analysis showed an unbalanced translocation involving chromosomes 4 and 13, leading to partial trisomy for 4pter-q12 and partial monosomy for 13pter-q13 [karyotype, 46,XY,+der(4)t(4;13)(q12;q12),-13)]. The mother is the carrier of a balanced translocation involving chromosomes 4 and 13. The translocation is known to be segregating for three generations in this family. The child was found to have deficiency of all blood lymphocyte populations, but other hemopoietic lineages appeared to be normal. In addition, his fresh T cells were principally CD45RA+, CD62L+, and deficient in the Fas receptor. This deficiency of all blood lymphocyte populations may be due to an overdose of a gene or genes located in the region of chromosome 4 or a partial deficiency of a gene or genes in the region of chromosome 13 that regulate the development of the lymphocyte lineage. Since the mother contributed two copies of chromosomal region 4pter-q12 and no copy of 13pter-q12, the deficiency of all blood lymphocyte populations in our patient may be the result of either uniparental disomy or imprinting. A maternal granduncle with dissimilar dysmorphic features was not lymphopenic but was neutropenic. Copyright 2001 Wiley-Liss, Inc.

Answer 5

yes she should be worried because women less that 17and older that 35 they have the risk to die both baby and mother , and about the 13 and 18 chro. im not sure but it has to do something with the brain.

Answer 6

Here is what I found:
http://www.knowledgene.com/public/images/gene_school/Your_gene/chromosome/alphalist.htm
http://www.knowledgene.com/public/images/gene_school/Your_gene/chromosome/alphalist.htm#13
http://www.knowledgene.com/public/images/gene_school/Your_gene/chromosome/alphalist.htm#18

I will pray that her baby is ok and healthy. Good luck!