An Excerpt from the Book

On Monday morning, the specialist, along with his assistant who was a genetic counselor, performed first hand a thorough ultrasound of the fetus whose chromosomes they had been analyzing over the previous few days.  He indicated that an abnormal nuchal fold measurement is usually indicative of Down Syndrome in only 3% of the cases analyzed.  A nuchal cyst, however, was a more positive indication of Down Syndrome.  He also noted that measurements taken from an untrue angle could result in false readings

All measurements of the nuchal fold were under 6 mm.  No nuchal cyst was present.  The lengths of the two thigh bones matched (within measuring error).  The specialist was very optimistic that the remainder of the 15 cells analyzed would show no extra copy of the 21^st chromosome.  Very rarely do they see a “mosaic” where some cells have normal chromosomes and some have the extra 21^st chromosome.

His suspicions proved correct.  The results of the cell analysis were completed during our visit.  No indication of Down Syndrome was present in any of the 15 cells.

Upon further analysis, he mentioned that the brain was shaped nicely (which would not be the case if spina bifada were present).  No evidence of clefting on the lips was found.  The stomach looked fine.  Both kidneys looked fine.  Two umbilical arteries - one on either side of the bladder were noted.  After spending such a depressing past few days, this fantastic news was almost impossible to digest. 

One last thing that bothered the specialist was that he could not clearly identify the four chambers of the heart.  He noticed a discrepancy in the size of the two ventricles.  He wasn’t sure if there was one large ventricle or two with a very small one next to a large one.  If there are two chambers - one bigger than the other, then the chances of a successful repair are higher.  Also, the pulmonary artery looked small compared to the aorta.

Although the baby would not roll into a position where he could clearly see the heart, the specialist concluded that a congenital heart defect definitely existed.  He immediately asked his assistant to set up an appointment for us at Children’s Hospital in town.