question-icon

Do do doMadam Now my wife is pregnant of 12

default
Posted on Thu, 3 Jan 2019
Question: Do do doMadam
Now my wife is pregnant of 12 week 5 days.
Today first trimester scan is done & reports are attached.
The noteworthy point as told by doctor is
1) Single Umbilical artery.
2) Hypoplastic nasal bone.
He told that finding may be associated with chromosomal abonormalities or could be normal & requires further investigation.
Option of first trimester combined screening;NIPS; CVS/ aminocentesis ; TIFFA scan.Risk of downs syndrome.
He said there is two vein near head instead of three.
Double marker report is positive. NIPT Test done on 03.12.18
I am very worried, wife is in very tension
Please advise further course of action/ 2nd advise
default
Follow up: Dr. Diptanshu Das (0 minute later)
Do do doMadam
Now my wife is pregnant of 12 week 5 days.
Today first trimester scan is done & reports are attached.
The noteworthy point as told by doctor is
1) Single Umbilical artery.
2) Hypoplastic nasal bone.
He told that finding may be associated with chromosomal abonormalities or could be normal & requires further investigation.
Option of first trimester combined screening;NIPS; CVS/ aminocentesis ; TIFFA scan.Risk of downs syndrome.
He said there is two vein near head instead of three.
Double marker report is positive. NIPT Test done on 03.12.18
I am very worried, wife is in very tension
Please advise further course of action/ 2nd advise
doctor
Answered by Dr. Diptanshu Das (6 hours later)
Brief Answer:
The next step would be to get a CVS or amniocentesis done

Detailed Answer:
Thanks for using the Ask a Doctor service.

Single Umbilical artery does increase the risk of the baby having cardiac, skeletal, intestinal or renal problems and there may be a higher likelihood of having other congenital abnormalities, especially of the heart. More importantly, there can be genetic associations. Hypoplastic nasal bone on the other hand is known to have association with Down syndrome. So the risk is rather high and it would perhaps be a good idea to get a CVS or amniocentesis done for further evaluation.

Feel free to write back.

Regards
Above answer was peer-reviewed by : Dr. Nagamani Ng
doctor
doctor
Answered by Dr. Diptanshu Das (0 minute later)
Brief Answer:
The next step would be to get a CVS or amniocentesis done

Detailed Answer:
Thanks for using the Ask a Doctor service.

Single Umbilical artery does increase the risk of the baby having cardiac, skeletal, intestinal or renal problems and there may be a higher likelihood of having other congenital abnormalities, especially of the heart. More importantly, there can be genetic associations. Hypoplastic nasal bone on the other hand is known to have association with Down syndrome. So the risk is rather high and it would perhaps be a good idea to get a CVS or amniocentesis done for further evaluation.

Feel free to write back.

Regards
Above answer was peer-reviewed by : Dr. Nagamani Ng
doctor
default
Follow up: Dr. Diptanshu Das (48 hours later)
We have done NIPT result on 03.12.18 & waiting for results.
Further to this termination & retention of foetus will be decided.
Can you establish the causes of down syndrome in foetus.
Problem in mother & father or another reason.
To whom I should consult so that root cause is decided & next issue is healthy one.
Precaution to be taken for next issue.
As time period of CVS is over .nipt is done
default
Follow up: Dr. Diptanshu Das (0 minute later)
We have done NIPT result on 03.12.18 & waiting for results.
Further to this termination & retention of foetus will be decided.
Can you establish the causes of down syndrome in foetus.
Problem in mother & father or another reason.
To whom I should consult so that root cause is decided & next issue is healthy one.
Precaution to be taken for next issue.
As time period of CVS is over .nipt is done
doctor
Answered by Dr. Diptanshu Das (37 minutes later)
Brief Answer:
Genetic counselling needed

Detailed Answer:
Down syndrome usually results from faulty cell division during the process of embryo formation or slightly prior to that. Usually it is not a result of any problems in the father or mother. However, in case Down syndrome is diagnosed, the exact nature of genetic defect would offer clues about whether further work-up in the parents is required to evaluate the risk in case of subsequent pregnancies. Once you get the reports please upload, and I would guide you accordingly.

Regards
Above answer was peer-reviewed by : Dr. Raju A.T
doctor
doctor
Answered by Dr. Diptanshu Das (0 minute later)
Brief Answer:
Genetic counselling needed

Detailed Answer:
Down syndrome usually results from faulty cell division during the process of embryo formation or slightly prior to that. Usually it is not a result of any problems in the father or mother. However, in case Down syndrome is diagnosed, the exact nature of genetic defect would offer clues about whether further work-up in the parents is required to evaluate the risk in case of subsequent pregnancies. Once you get the reports please upload, and I would guide you accordingly.

Regards
Above answer was peer-reviewed by : Dr. Raju A.T
doctor
default
Follow up: Dr. Diptanshu Das (3 days later)
Fguj
default
Follow up: Dr. Diptanshu Das (0 minute later)
Fguj
default
Follow up: Dr. Diptanshu Das (3 minutes later)
What is procedure of termination of gestation at 14 week- 15 week
Is d& c / I& d should be done.If d& c/ I& d is Done .
How many days to remain in hospital.
I
Nipt result is awaited.
default
Follow up: Dr. Diptanshu Das (0 minute later)
What is procedure of termination of gestation at 14 week- 15 week
Is d& c / I& d should be done.If d& c/ I& d is Done .
How many days to remain in hospital.
I
Nipt result is awaited.
doctor
Answered by Dr. Diptanshu Das (3 hours later)
Brief Answer:
Before 20 weeks of gestation

Detailed Answer:
D&C is a form of medical termination of pregnancy (MTP) that may be done at this stage of pregnancy. Nevertheless, your gynecologist will be able to evaluate if that is fine for you. It needs to be done prior to 20 weeks of gestation.
Above answer was peer-reviewed by : Dr. Prasad
doctor
doctor
Answered by Dr. Diptanshu Das (0 minute later)
Brief Answer:
Before 20 weeks of gestation

Detailed Answer:
D&C is a form of medical termination of pregnancy (MTP) that may be done at this stage of pregnancy. Nevertheless, your gynecologist will be able to evaluate if that is fine for you. It needs to be done prior to 20 weeks of gestation.
Above answer was peer-reviewed by : Dr. Prasad
doctor
default
Follow up: Dr. Diptanshu Das (18 hours later)
Sir
Today we got report of NIPT but Tests not provide a result.
Pathologist suggest to carry out retest.
We consulted doctor & he suggested that there is high chance of chromosomal abnormalities & if we will wait for results of re test of NIPT, gestation period will increase & may require surgery for termination of gestation.
So it is advisable to terminate the gestation.however at this stage D&E is not possible so delivery through vaginal to be done & require 2-3 days.
I have small son & my wife is afraid of pain .
Please advise & tell about procedure of vaginal withdraw.is there any risk to mother.
We are in anxious state & wife is thinking that she will not get normal child.
default
Follow up: Dr. Diptanshu Das (0 minute later)
Sir
Today we got report of NIPT but Tests not provide a result.
Pathologist suggest to carry out retest.
We consulted doctor & he suggested that there is high chance of chromosomal abnormalities & if we will wait for results of re test of NIPT, gestation period will increase & may require surgery for termination of gestation.
So it is advisable to terminate the gestation.however at this stage D&E is not possible so delivery through vaginal to be done & require 2-3 days.
I have small son & my wife is afraid of pain .
Please advise & tell about procedure of vaginal withdraw.is there any risk to mother.
We are in anxious state & wife is thinking that she will not get normal child.
doctor
Answered by Dr. Diptanshu Das (3 hours later)
Brief Answer:
Anaesthesia can alleviate pain

Detailed Answer:
Indeed D&E at such an advanced stage is difficult and an attempt to normal vaginal delivery makes sense. You need not worry as anaesthesia is available to ease the latter part of the vaginal delivery. In short, it would not be very painful.

Regards
Above answer was peer-reviewed by : Dr. Raju A.T
doctor
doctor
Answered by Dr. Diptanshu Das (0 minute later)
Brief Answer:
Anaesthesia can alleviate pain

Detailed Answer:
Indeed D&E at such an advanced stage is difficult and an attempt to normal vaginal delivery makes sense. You need not worry as anaesthesia is available to ease the latter part of the vaginal delivery. In short, it would not be very painful.

Regards
Above answer was peer-reviewed by : Dr. Raju A.T
doctor
Answered by
Dr.
Dr. Diptanshu Das

Pediatrician

Practicing since :2005

Answered : 3840 Questions

premium_optimized

The User accepted the expert's answer

Share on
Do do doMadam Now my wife is pregnant of 12

Do do doMadam Now my wife is pregnant of 12 week 5 days. Today first trimester scan is done & reports are attached. The noteworthy point as told by doctor is 1) Single Umbilical artery. 2) Hypoplastic nasal bone. He told that finding may be associated with chromosomal abonormalities or could be normal & requires further investigation. Option of first trimester combined screening;NIPS; CVS/ aminocentesis ; TIFFA scan.Risk of downs syndrome. He said there is two vein near head instead of three. Double marker report is positive. NIPT Test done on 03.12.18 I am very worried, wife is in very tension Please advise further course of action/ 2nd advise