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What Do These Below Lab Reports Indicate?
Question: Hello Doctor,
I just had my 12 week ultrasound and nuchal Screening. I was 13 weeks pregnant on the day I had it.
The fetal medicine specialist could not locate the nasal bone on the fetus.
I am still waiting on the bloodwork Results.
here are my numbers: fetal heart rate normal at 150
my age: 26
Nuchal thickness : 1.6 mm
CRL: 74 mm
My question is, given these numbers and absent nasal bone what are the odds of my child having a chromosomal disorder?
Thanks!
I just had my 12 week ultrasound and nuchal Screening. I was 13 weeks pregnant on the day I had it.
The fetal medicine specialist could not locate the nasal bone on the fetus.
I am still waiting on the bloodwork Results.
here are my numbers: fetal heart rate normal at 150
my age: 26
Nuchal thickness : 1.6 mm
CRL: 74 mm
My question is, given these numbers and absent nasal bone what are the odds of my child having a chromosomal disorder?
Thanks!
Brief Answer:
Absent nasal bone alone cannot determine the risk of chromosomal disorder.
Detailed Answer:
Hello
Welcome to HCM.
I understand your concerns.
I have read the details. In my opinion, nuchal thickness and CRL at 13 weels gestational age is normal.
Absent nasal bone alone can not point towards development of chromosmal disorder in fetus. Nasal bone is considered to be a soft marker.
The other sonographic features which msut be examined are intracardiac echogenic focus, echogenic bowel, short humerus and short femur.
A combine screen which includes nuchal translucency (the results of which you already have), free beta-HCG and PAPP-A will further help to determine chances of chromosomal disorder.
Kindly mention what blood tests you have undergone. Do share the results in follow-up.
Hope this helps.
Thanks.
Absent nasal bone alone cannot determine the risk of chromosomal disorder.
Detailed Answer:
Hello
Welcome to HCM.
I understand your concerns.
I have read the details. In my opinion, nuchal thickness and CRL at 13 weels gestational age is normal.
Absent nasal bone alone can not point towards development of chromosmal disorder in fetus. Nasal bone is considered to be a soft marker.
The other sonographic features which msut be examined are intracardiac echogenic focus, echogenic bowel, short humerus and short femur.
A combine screen which includes nuchal translucency (the results of which you already have), free beta-HCG and PAPP-A will further help to determine chances of chromosomal disorder.
Kindly mention what blood tests you have undergone. Do share the results in follow-up.
Hope this helps.
Thanks.
Above answer was peer-reviewed by :
Dr. Vaishalee Punj
Thank you for your response doctor, I appreciate it.
I wanted to add a few more details about my family history.
My husband (28 years old) and I are both South Asian, we are also related as first cousins, a common practice in our culture, and our baby was conceived through IVF, frozen embryo transfer without ICSI. No one in both sides of our family have any known chromosomal or genetic disorders.
We opted for genetic counseling prior to my becoming pregnant, and we're told that my risk for the baby having any chromosomal disorder was 1/1250, despite our relationship, since we are both young and have no family history on any side. Would you agree with this analysis given this information? Or is this a risk factor?
I am still waiting on blood test results for the proteins, I also had a cell free DNA test which is supposed to be the next best thing before amniocentesis and I will get those Results in a week. In the meantime I was wondering if any of the information I shared is relevant in calculating risk, and if so what are my odds before receiving the blood test results?
Thank you again doctor.
I wanted to add a few more details about my family history.
My husband (28 years old) and I are both South Asian, we are also related as first cousins, a common practice in our culture, and our baby was conceived through IVF, frozen embryo transfer without ICSI. No one in both sides of our family have any known chromosomal or genetic disorders.
We opted for genetic counseling prior to my becoming pregnant, and we're told that my risk for the baby having any chromosomal disorder was 1/1250, despite our relationship, since we are both young and have no family history on any side. Would you agree with this analysis given this information? Or is this a risk factor?
I am still waiting on blood test results for the proteins, I also had a cell free DNA test which is supposed to be the next best thing before amniocentesis and I will get those Results in a week. In the meantime I was wondering if any of the information I shared is relevant in calculating risk, and if so what are my odds before receiving the blood test results?
Thank you again doctor.
Brief Answer:
better to wait for blood results.
Detailed Answer:
Hello again.
Sorry for the late response.
There is no family history of genetic or chromosomal disorder.
Consanguinity can be a risk factor of genetic disorder but the risk is very low.
I agree to the analysis but its difficult to estimate the exact risk.
Absent nasal bone is a soft marker for chromosomal disorder and it alone is not sufficient to predict a chromosomal disorder.
It is better to wait for the result of blood tests then to be anxious beforehand.
Before you have the results, I donot think there is any major risk of your baby getting a chromosomal disorder.
Hopefully you will share the results with me so that we can discuss further.
Take care.
Thanks
better to wait for blood results.
Detailed Answer:
Hello again.
Sorry for the late response.
There is no family history of genetic or chromosomal disorder.
Consanguinity can be a risk factor of genetic disorder but the risk is very low.
I agree to the analysis but its difficult to estimate the exact risk.
Absent nasal bone is a soft marker for chromosomal disorder and it alone is not sufficient to predict a chromosomal disorder.
It is better to wait for the result of blood tests then to be anxious beforehand.
Before you have the results, I donot think there is any major risk of your baby getting a chromosomal disorder.
Hopefully you will share the results with me so that we can discuss further.
Take care.
Thanks
Above answer was peer-reviewed by :
Dr. Vaishalee Punj
Thank you for the response doctor. It is reassuring.
I did get the PAPP A and beta HCG results just now and they were within normal range, my OBGYN said that my risk for down syndrome is now 1/8000, which is reassuring. However, we are still waiting on the cell free DNA test to make sure other chromosomal abnormalities such as trisomy 18 and 13 do not exist.
Hopefully the 20 week anatomy scan will also go well and the sonographer will be able to visualize the nasal bone clearly then.
thank you!
I did get the PAPP A and beta HCG results just now and they were within normal range, my OBGYN said that my risk for down syndrome is now 1/8000, which is reassuring. However, we are still waiting on the cell free DNA test to make sure other chromosomal abnormalities such as trisomy 18 and 13 do not exist.
Hopefully the 20 week anatomy scan will also go well and the sonographer will be able to visualize the nasal bone clearly then.
thank you!
Brief Answer:
hope you have healthy baby.
Detailed Answer:
You are most welcome :)
Thats wonderful news. Happy for you :)
Cell free DNA test results and 20 week anomaly scan will further confirm the status.
I hope that all your test results come out to be normal and you have a healthy baby.
Kindly close the discussion if you have no more queries and give your valuable feedback.
Take care.
Thanks.
hope you have healthy baby.
Detailed Answer:
You are most welcome :)
Thats wonderful news. Happy for you :)
Cell free DNA test results and 20 week anomaly scan will further confirm the status.
I hope that all your test results come out to be normal and you have a healthy baby.
Kindly close the discussion if you have no more queries and give your valuable feedback.
Take care.
Thanks.
Above answer was peer-reviewed by :
Dr. Vinay Bhardwaj
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