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P. Беременность при ПОФ




The decision to have a child is one of the most important and serious life decisions an individual or couple can make. Because ПОФ is an inherited disease, anyone (man or woman) with ПОФ will have similar concerns about passing the ПОФ mutation to his/her child. If a parent has ПОФ, the chance that the child will have ПОФ is fifty percent. Women, specifically, have additional matters to consider. In addition to the usual risks that any woman might encounter during pregnancy, a woman with ПОФ has additional concerns that must be carefully considered. Pregnancy in a patient with ПОФ is perilous, and poses substantial life-threatening risks to both the mother and child (Davidson et al., 1985; Thornton et al., 1987).

Specific risks to the mother include, but are not limited to:

1. Risk of ПОФ flare-ups during pregnancy. To protect the fetus, the use of palliative medications that are often used to treat flare-ups may have to be limited.

2. Risk of breathing difficulties during the latter part of pregnancy. ПОФ causes severe limitation of expansion of the chest wall due to developmental anomalies in the costovertebral joints. Breathing problems can also arise due to bone formation in the chest muscles. As the fetus grows in the


womb, it presses upward on the diaphragm. This upward pressure on the diaphragm further limits the space for the mother’s lungs to expand resulting in increased difficulty breathing. Breathing may be rendered even more difficult if the mother has already formed heterotopic bone in the abdominal wall that restricts outward growth of the fetus. As a result, the growing baby will further press upwards on the mother’s diaphragm, restricting breathing even further.

3. Risk of childbirth complications. Caesarian section is necessary for a mother with ПОФ due to the pelvic deformity, joint fusions, and decreased plasticity of the birth canal that will not safely accommodate a normal vaginal delivery. It would not be safe or even possible to have normal childbirth due to the physical limitations and mobility restrictions of ПОФ.

4. Risk of the general anesthesia for Caesarian delivery. Caesarian delivery is a surgical procedure requiring anesthesia. Due to ПОФ, regional anesthetics are technically unfeasible, dangerous, and can not be used. General anesthesia is required. In addition to the dramatic increased risks to the mother, general anesthetics pose substantial risks to the fetus/newborn baby (see below).

5. Risk of phlebitis and pulmonary embolism. These potentially life-threatening complications can arise due to the severe immobility of ПОФ. The added constraints of pregnancy, such as extended bedrest mandated by a high-risk pregnancy along with the lower limb edema that invariably occurs in the last trimester of pregnancy further increase the risk of these life-threatening complications.




Specific risks to the child include, but are not limited to:

1. Risk that the child may have ПОФ. If a parent has ПОФ, the chance that the child will have ПОФ is fifty percent.

2. Risk of prematurity. The mother may not be able to carry to full-term due to breathing difficulties. As a result, there is a severe risk of premature delivery. Numerous lifelong consequences are often associated with premature birth.

3. Risk of severe fetal distress. The risk of severe fetal distress, a condition in which the fetus is at risk of dying or suffering severe brain injury, is primarily due to hypoxia (diminished oxygen to the fetus). This complication may result from maternal breathing difficulties or other unrecognized problems later in pregnancy (see above).

4. Risk of cerebral palsy. There is a high risk of cerebral palsy due to oxygen deprivation to the fetus, especially if fetal distress occurs during the latter part of pregnancy or during delivery.

5. Risk of complications from general anesthesia. There is a high risk of complications to the newborn resulting from general anesthesia during Caesarian section (see above). General anesthesia is required, as the more preferable local or regional anesthesia are technically impossible when the mother has ПОФ. At delivery, there should be a team skilled in resuscitation of high risk infants.



Additional complications to consider are: Who will care for the mother during the complications and added stress of pregnancy? Who will care for the child if the mother is disabled from ПОФ? What is the role of the father, siblings, and grandparents in the care of the newborn child?

Although it is possible for a woman with ПОФ to carry a child to term, and at least four known instances have been reported in the medical literature, there are substantial life-threatening risks to both the mother


and child. Pregnancy in ПОФ should never be undertaken without serious consideration and family planning. Unwanted pregnancies should be assiduously avoided. Independent genetic counseling is available, if desired.

Should a pregnancy occur, guidance and care at a high-risk pregnancy center are imperative. At least two lives are at stake: that of the mother and that of the child. In addition, the lives of many others will be impacted by a pregnancy in a mother with ПОФ – specifically, those of other family members who, by necessity, are involved in the consequences of any such occurrence.

In summary, pregnancy in ПОФ poses major life-threatening risks to both mother and child as well as life-altering consequences to the entire family that must be carefully considered and balanced.


IV. ТЕКУЩИЕ ПРОБЛЕМЫ ЛЕЧЕНИЯ ПОФ

К настоящему времени реальные методы предотвращения и лечения ПОФ не разработаны. Редкость самого заболевания, различная тяжесть его протекания, изменяющаяся клиническая картина его проявления не позволяют с уверенностью провести оценку экспериментальных терапевтических методов. На сегодняшний день двойные клинические рандомизированные испытания «вслепую» с плацебо в контроле в целях определения относительной эффективности какого-либо возможного терапевтического метода лечения еще не проводились.

ДОКЛАД МЕЖДУНАРОДНОГО КЛИНИЧЕСКОГО КОНСОРЦИУМА ПО ПОФ:





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