My name is Dr. M.M.; I am a pediatrician.
Regarding children with OI type 4: although I am not an expert on this disorder, I do have some knowledge which may be of help and consolation to the parents. Osteogenesis imperfecta type 4 is the least severe of all the types of osteogenesis imperfecta. It is acquired by autosomal dominant inheritance, meaning that only one parent may be carrying the gene for it and thus it is less severe. However, it is still characterized by "weak bones" and the baby may be born with significant bowing of the lower legs at birth and fractures of the bones are possible but not always the rule. The spine can also be bowed and usually these patients are short in adult life. During puberty, improvement occurs and few fractures are experienced in adolescence. Hearing impairment can occur but less so than with other forms of osteogenesis imperfecta.
The child once born should see a geneticist, have a hearing screen at birth and later and should be monitored for fractures with x-rays. An orthopedic surgeon should also be part of the team of caring for the child to fix fractures and correct the bowing of the bones. Of all the types, this is actually the "best type" because it is the least severe and is not lethal. It will be a challenge to the parents to have to monitor for bone fractures and the things mentioned above, but the child should be a blessing,
I hope this is helpful. Best regards and if you have any further questions, please contact me through this website.
Regarding the grade IV OI amniocentesis: abortion cannot ever be an answer to these problems. I took care of an Ost. Imperfecta patient in (city) MANY times. He was 6 or 7 when I first saw him, and he suffered many fractures while I was there, but he was one of the sweetest and most precocious people I have ever met. Yes, he suffered. Yes, his parents suffered and angonized over his suffering. BUT, the love they had for one another, and the joy they had in each other was always apparent. I shudder to think how impoverished the parents lives would have been in comparison if they had killed the baby in the womb through abortion. I cannot imagine that they would have chosen that option in retrospect, even as difficult as caring for their child can be. I just don’t think that an abortion is an act of love; and killing a baby, even if it would be born "imperfect", is an act of fear and hate, not love. — C.H., M.D.