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What Does My Lab Test Reports Indicate?
Question: Hi, My wife is of 35 years age and just started 8th month.
Recently in last report at 34 weeks (by growth & 32 weeks by calendar) gestation report we found below observation.
1 - Complete Atrioventricular Septal Defect (AVSD). (findings are consistent with AVSD/FOT).
2 - RV is Hypertrophied with possible Tetrology of Fallot (FOT) (associated to Down Syndrome).
3 - RVOT is narrow with small pulmonary valve
4 - NO PE
5 - NO AVVR
6 - FHR 140 B/MIN: Regular
Doctors and expert so far now detected that there are 50-50 chances for either YES or NO for Down Syndrome. Baby has only 3 valve in heart plus there is hole in the separation wall between left and right chamber of wall of heart.
Suggested to do Harmony Test to detect possibility of Down Syndrom.
Is it really safe to move ahead with such complication in pregnancy for mother and baby ?
Appreciate your advise and expert guidance.
Recently in last report at 34 weeks (by growth & 32 weeks by calendar) gestation report we found below observation.
1 - Complete Atrioventricular Septal Defect (AVSD). (findings are consistent with AVSD/FOT).
2 - RV is Hypertrophied with possible Tetrology of Fallot (FOT) (associated to Down Syndrome).
3 - RVOT is narrow with small pulmonary valve
4 - NO PE
5 - NO AVVR
6 - FHR 140 B/MIN: Regular
Doctors and expert so far now detected that there are 50-50 chances for either YES or NO for Down Syndrome. Baby has only 3 valve in heart plus there is hole in the separation wall between left and right chamber of wall of heart.
Suggested to do Harmony Test to detect possibility of Down Syndrom.
Is it really safe to move ahead with such complication in pregnancy for mother and baby ?
Appreciate your advise and expert guidance.
Brief Answer:
Risks are high
Detailed Answer:
Thanks for asking on Healthcaremagic.
I have gone very carefully through your query and have checked the attached report. Before trying to answer your query I need to ask you whether this pregnancy has resulted from natural attempts or whether artificial supportive methods were needed? The mother has a relatively higher age and hence is at risk for delivering a baby with Downs syndrome. Since she is already 32 or 34 weeks pregnant, there is no way that you can think of options for termination of pregnancy other than attempts for a live delivery. In today's age preconceptional techniques can diagnose Downs even before the age of viability when suitable options can be considered. But now it is too late and you need to be prepared to face multiple problems on the part of the baby. The baby is likely to require developmental supports apart from the requirement of multiple surgeries. Irrespective of whether the baby has Downs, multiple problems would need to be faced eventually.
At this stage I would no longer suggest any tests for detection of Downs since nothing can be done at this point of time. Discuss the options with your doctor but they bear risks on the part of the mother. Further testing can be done after the baby has been delivered.
Let me know if I could help further.
Regards
Risks are high
Detailed Answer:
Thanks for asking on Healthcaremagic.
I have gone very carefully through your query and have checked the attached report. Before trying to answer your query I need to ask you whether this pregnancy has resulted from natural attempts or whether artificial supportive methods were needed? The mother has a relatively higher age and hence is at risk for delivering a baby with Downs syndrome. Since she is already 32 or 34 weeks pregnant, there is no way that you can think of options for termination of pregnancy other than attempts for a live delivery. In today's age preconceptional techniques can diagnose Downs even before the age of viability when suitable options can be considered. But now it is too late and you need to be prepared to face multiple problems on the part of the baby. The baby is likely to require developmental supports apart from the requirement of multiple surgeries. Irrespective of whether the baby has Downs, multiple problems would need to be faced eventually.
At this stage I would no longer suggest any tests for detection of Downs since nothing can be done at this point of time. Discuss the options with your doctor but they bear risks on the part of the mother. Further testing can be done after the baby has been delivered.
Let me know if I could help further.
Regards
Note: For detailed guidance on genetic screening consult a genetics specialist
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Answered by
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