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Old 06-17-2012
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Question Finding the cause of recurrent fetal loss?

A 25-year-old woman is G5, P0, Ab4. All of her previous pregnancies ended in spontaneous abortion in the first or second trimester. She is now in the 16th week of her fifth pregnancy and has had no prenatal problems. Laboratory findings include maternal blood type of A positive, negative serologic test for syphilis, and immunity to rubella. Which of the following laboratory studies would be most useful for determining a potential cause of recurrent fetal loss in this patient?
(A) Maternal serum a-fetoprotein determination
(B) Genetic analysis of the CFTR gene
(C) Maternal serologic test for HIV
(D) Amniocentesis with chromosomal analysis
(E) Maternal serum antibody screening
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Old 06-17-2012
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(E) Maternal serum antibody screening????
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I'd go with E
She most probably has antiphospholipid syndrome, which is a common cause of recurrent spontaneous abortion in the first and second trimesters.
Chromosomal abnormalities are the commonest cause of abortion overall but not of recurrent abortions..
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Id go with E since it said first and second trimester....chrom most common cause of loss in first trimester.
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Quote:
Originally Posted by anomali View Post
A 25-year-old woman is G5, P0, Ab4. All of her previous pregnancies ended in spontaneous abortion in the first or second trimester. She is now in the 16th week of her fifth pregnancy and has had no prenatal problems. Laboratory findings include maternal blood type of A positive, negative serologic test for syphilis, and immunity to rubella. Which of the following laboratory studies would be most useful for determining a potential cause of recurrent fetal loss in this patient?
(A) Maternal serum a-fetoprotein determination
(B) Genetic analysis of the CFTR gene
(C) Maternal serologic test for HIV
(D) Amniocentesis with chromosomal analysis
(E) Maternal serum antibody screening
D. bcoz chromosomal abnormalities account for majority of fetal loss in first and sec trimesters
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Old 06-18-2012
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I agree

Quote:
Originally Posted by anomali View Post
A 25-year-old woman is G5, P0, Ab4. All of her previous pregnancies ended in spontaneous abortion in the first or second trimester. She is now in the 16th week of her fifth pregnancy and has had no prenatal problems. Laboratory findings include maternal blood type of A positive, negative serologic test for syphilis, and immunity to rubella. Which of the following laboratory studies would be most useful for determining a potential cause of recurrent fetal loss in this patient?
(A) Maternal serum a-fetoprotein determination
(B) Genetic analysis of the CFTR gene
(C) Maternal serologic test for HIV
(D) Amniocentesis with chromosomal analysis
(E) Maternal serum antibody screening


I think it's D. the most common couse of still birth are chromosomal anomalies in fact chromosome 16 trisomy. if she had antiphospholipid syndrome she would have had positive VDRL test.

Check this: Abortion and Chromosomal Disorder?

Correct me if i'm wrong
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Good point that she has a -ve VDRL but the thing here is that she had 5 recurrent miscarriages in a row. So can a chromosomal abnormality occur 5 times in a row?
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D

Most common cause for miscarriages are chromosomal abnormalities. She is a healthy 25 year old female with no known problems. Antiphospholipid syndrome is tested for after the 2nd or 3rd miscarriage. If she was positive they would've treated her.
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Quote:
Originally Posted by beka-CTS View Post
I think it's D. the most common couse of still birth are chromosomal anomalies in fact chromosome 16 trisomy. if she had antiphospholipid syndrome she would have had positive VDRL test.

Check this: Abortion and Chromosomal Disorder?

Correct me if i'm wrong
Yeah it's definitely D with a negative vdrl test (read this Q too fast and missed that finding )
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i agree with D aswell, but i dont think it's trisomy though as it occured 5 times and nondisjunction doesnt occur that often.
I think it's robertsonian translocation which presents with multiple miscarriages.
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Quote:
Originally Posted by modesty View Post
i agree with D aswell, but i dont think it's trisomy though as it occured 5 times and nondisjunction doesnt occur that often.
I think it's robertsonian translocation which presents with multiple miscarriages.
What if she is a balanced carrier?
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Originally Posted by drssbaz View Post
What if she is a balanced carrier?
If she is balanced then she wont have problems with the miscarriges and her child will have the risk of having problems with his children.
But how is it related to the stem of the question? she already has miscarriages so i assume that she is unbalanced and thats why she is having multiple abortions.
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she has habitual abortions... 3 or more than 3 in a row... it cannot be chromosomal abnormalities or infections ... got to be APLAS or major uterine structural abnormalities.. cervical incompetence too can cause habitual abortions but that wud be in mid trimester , never in first trimester...
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I disagree

Quote:
Originally Posted by modesty View Post
If she is balanced then she wont have problems with the miscarriges and her child will have the risk of having problems with his children.
But how is it related to the stem of the question? she already has miscarriages so i assume that she is unbalanced and thats why she is having multiple abortions.
No. She is balanced carrier of Robertsonian translocation then she will be normal but her children will be affected every time there is alternative pairing in gametogenesis which will result in functional trisomy or monosomy leading to pregnancy losses.
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Quote:
Originally Posted by drssbaz View Post
No. She is balanced carrier of Robertsonian translocation then she will be normal but her children will be affected every time there is alternative pairing in gametogenesis which will result in functional trisomy or monosomy leading to pregnancy losses.
First of all this is not my strongest topic and you maybe be right, but i disagree with you, also it's quite low yield topic soo...

She can have a new mutation (i mean translocation in her acrosomal chromsomes) in her germ line which wont affect her phenotyipcally, on the other hand it will affect her new born, when you have balanced translocation she will have normal 23 chormosomes in her germ cells after fertilization the zygote will have 46 chormosomes which lead to a normal child with usually partial 21, 14, trisomy. the problem arises when she is unbalanced then she in her germ cells has only 22 chromosomes and not 23, resulting in fertilization of 45xy or 45xx with autosome monosomy which leads to abortions, if she will be balanced she will have children without miscarrges.

And anaomali can you post the answer? im curious now.
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Quote:
Originally Posted by modesty View Post
First of all this is not my strongest topic and you maybe be right, but i disagree with you, also it's quite low yield topic soo...

She can have a new mutation (i mean translocation in her acrosomal chromsomes) in her germ line which wont affect her phenotyipcally, on the other hand it will affect her new born, when you have balanced translocation she will have normal 23 chormosomes in her germ cells after fertilization the zygote will have 46 chormosomes which lead to a normal child with usually partial 21, 14, trisomy. the problem arises when she is unbalanced then she in her germ cells has only 22 chromosomes and not 23, resulting in fertilization of 45xy or 45xx with autosome monosomy which leads to abortions, if she will be balanced she will have children without miscarrges.

And anaomali can you post the answer? im curious now.
Well I wrote what my understanding is. We will all benefit once the correct answer comes out.
Please post it now. We have stormed our brains enough now.
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Mmm.. D....
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Default its D....

chromosomal anomalies are the cause of recurrent pregnancy loss in this case...they are the no 1 cause of spontaneous abortions( trisomies to be clear)

and points which go against APLA syn are negative VDRL test and other features of this syndrome are absent like arterial and venous thromboembolism
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