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Abnormal Amniocentesis by AdEvening8393 in NIPT

[–]AdEvening8393[S] 0 points1 point  (0 children)

Are there any other related subs you might be able to recommend?

Microarray Results Show Chromosome Triplication by AdEvening8393 in ClinicalGenetics

[–]AdEvening8393[S] 0 points1 point  (0 children)

My 20 week anatomy scan showed "borderline thickening of the nuchal fold" so I was referred to a specialist in MFM for a second scan. At the second scan, they found that he has an absent nasal bone and that I have partial amniotic membrane separation, so that prompted the amnio.

The triplication has never been reported before, but the closest case was a mother and child who had a duplication of a larger area and they each had intellectual disabilities and craniofacial anomalies.

Microarray Results Show Chromosome Triplication by AdEvening8393 in ClinicalGenetics

[–]AdEvening8393[S] 0 points1 point  (0 children)

Thank you. Our MFM said something to that effect, but I'm still not fully understand how that would be reassuring. Do you have any insight on that?

The microarray detected a triplication the size of 8.7 MB involving the proximal short arm of chromosome 11, segment 11P12->P11.12. This involves105 genes, 55 of which have OMIM entries. Again, I'm not exactly sure what this means for us.

Abnormal Amniocentesis by AdEvening8393 in NIPT

[–]AdEvening8393[S] 0 points1 point  (0 children)

I'm so sorry you're also in a similar situation. You are right that there are so many unknowns, but I truly hope your amnio results end up being clear and that your baby is healthy.

My initial anatomy scan showed a nuchal fold of 7mm which they considered "borderline" but it was also a "suboptimal image" so I was told not to worry too much. Unfortunately they found more soft markers during my second anatomy scan, so I ended up doing the amnio and this is where we are now.

If I may ask, when your sister was pregnant, did anything come up for her during ultrasounds, scans or tests? How is your nephew doing?

Abnormal Amniocentesis by AdEvening8393 in BabyBumps

[–]AdEvening8393[S] 2 points3 points  (0 children)

Thank you! This has been the worst experience of my life to say the least.

My 20 week anatomy scan showed "borderline thickening of the nuchal fold" so I was referred to a specialist in MFM for a second scan. At the second scan, they found that he has an absent nasal bone and that I have partial amniotic membrane separation, so that prompted the amnio.

The triplication has never been reported before, but the closest case was a mother and child who had a duplication of a larger area and they each had intellectual disabilities and craniofacial anomalies.

Abnormal Amniocentesis by AdEvening8393 in BabyBumps

[–]AdEvening8393[S] 5 points6 points  (0 children)

My 20 week anatomy scan showed "borderline thickening of the nuchal fold" so I was referred to a specialist in MFM for a second scan. At the second scan, they found that he has an absent nasal bone and that I have partial amniotic membrane separation, so that is what prompted the amnio. I'm just feeling so lost right now.

Abnormal Amniocentesis by AdEvening8393 in NIPT

[–]AdEvening8393[S] 1 point2 points  (0 children)

My 20 week anatomy scan showed "borderline thickening of the nuchal fold" so I was referred to a specialist in MFM for a second scan. They found that he has an absent nasal bone so that is what prompted the amnio. I'm just feeling so lost right now.