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Diagnosis and management of fetal osteogenesis imperfecta congenita in labor
Mav l , l97H
116 Communications in brief
Am . J. Obstel. ,Gvnecol.
Postoperatively, many patients will develop mild to severe ileus and infections proportional to the degree of contamination and the extent of repair. Parenteral antibiotics should be used prophylactically. Despite prompt surgical management, the reported mortality rate associated with vaginal evisceration is 10 per cent and is most commonly caused by thromboembolic complications. 5- 7 The use of anticoagulants should be individualized . The patient's general condition, the presence of high-risk factors for thromboembolic complications, and the extent of repair will aid in any decision concerning prophylactic anticoagulation. Vaginal vault evisceration is an uncommon gynecologic entity that requires prompt surgical management. Many cases may be repaired vaginally; however, laparotomy should be considered whenever any doubt exists about the viability of the prolapsed bowel or contamina tion of the peritoneal cavity. REFERENCES l. Friedel, W., and Kaiser, I. H.: Vaginal evisceration, Obstet. Gynecol. 45: 315, 1975. 2. Masters, W. H., and Johnson, V. E.: Human Sexual Response, Boston, 1966, Little, Brown, & Company. 3. Dickinson , R. L. : Atlas of Human Sex Anatomy, Baltimore, 1949, The Williams & Wilkins Company , pp. 100-101. 4. Wilson, F., and Swartz, D. P.: Coital injuries of the vagina, Obstet. Gynecol. 39: 182, 1972. 5. Rolf, B. B.: Vaginal evisceration, AM.j. 0BSTET. GYNECOL. 107: 369, 1970. 6. Heys, R. F.: Ileal prolapse through ruptured vagina: complication of Manchester operation, Br. Med. J. 2: 223, 1963. 7. Daley, D., and Callum, E. N .: A case of intestinal obstruction associated with complete procidentia, Br. J. Obstet. Gynaecol. 53: 68, 1946.
Diagnosis and management of fetal osteogenesis imperfecta congenita in labor IOANNIS A. ZERVOUDAKIS, M.D. MICHAEL J. STRONGIN, M . D. KATHRYN A . SCHROTENBOER, M.D. MICHAEL BEHAN , M.D. ELIAS KAZAM , M.D. GRAHAM G. HAWKS, M.D. Department of Obstetrics and Gynecology and Department of Radiology, The New York Hospital-Cornell Medical Center, New York, New York
is a rare malformation, with an incidence of 1 in 50,000. 1 In the
OSTEOGENESIS IMPERFECTA CONGENITA
Reprint requests: Dr. loannis A. Zervoudakis, Department of Obstetrics and Gynecology, Cornell University Medical College, 1300 York Ave., New York, New York 10021. 0002-9378/78/01131 -0116$00.20/0
©
!978 The C. V. Mosby Co.
Fig. 1. Longitudinal sonogram 5 em. to the right of the midline. The head is deformed and the cerebral gyri and midlirw are visible.
majority of cases an autosomal dominant inheritance pattern is seen, with different degrees of expressivity and penetrance although autosomal recessive transmission also has been described . The disorder is characterized uy multiple fractures of bones, joint laxity, short and deformed limbs. deficient ossification of the skeleton, and wormian bones in the skull seen with roentgenography! The fetu s is born dead or may survive for a short period of time. The metabolic abnormality consists of a lack of collagen maturation and increased serum, urine, and amniotic fluid inorganic pyrophosphate levels. 2 The present case report demonstrates the perinatal problems associated with this severe, incurable, and lethal congenital abnormality. A 17-year-old married white woman, gravida 1. para 0. registered at the Obstetrical Clinic at 26 weeks of gestation, with an unremarkable family and past medical history. The husba nd's family history was also negative for congenital ab- · normalities. At 34 weeks the uterus was noted to be smaller in size than expected, and a bistable ultrasound examination showed a normal fetal head with a biparietal diameter of 7.8 em. (mean at 31 to 32 weeks) and polyhydramnios. At 36 weeks the membranes ruptured prematurely with leakage of a large amount of amniotic fluid. On abdominal examination the fetal head was not palpable. A pelvic examination revealed a 3 em . dilated cervix and an abnormal presenting part consisting of soft and bony areas not clearly identifiable. An abdominal radiogram showed absence of a normal fetal skeleton . However, the vertebrae were faintl y visible in the pelvis. A gray-scale ultrasound examination demonstrated a deformed fetal head (Fig. 1) and a bree'h presentation. The cerebral gyri were seen with unusual cla rity, confirming the impression that the skull was abnormally thin. Labor sta rt.ed spontaneously nine hours after premature rupture of the membranes and lasted four hours. External fetal monitoring showed severe variable decelerations with the fetal heart rate (FHR) ranging between 40 and 200 beats per minute. Reat-
Volume 131 Number I
Communications in brief
1 17
~~ .. I
·:.;
Fig. 2. Fetal monitor slip tracing of 28 minutes' duration. to-beat variability was good at the base line but poor during decelerations (Fig. 2). With an assisted breech extraction, a I, I 00 gram stillborn female infant was delivered. The head was asymmetric with prominent calvaria; there was no palpable bone structure. The extremities were short, hyperflexible, and bowed. A postmortem radiogram of the infant showed multiple fractures and deficient skull ossification. At autopsy, the abdominal wall fascia was attenuated and translucent, and the pulmonary artery was calcified. The tricuspid valve showed myxoid degeneration and Ebstein's anomaly, and the lungs were hypoplastic. The placenta weighed 460 grams and a 6 by 4 by 4 em. recent hematoma was noted on the maternal surface.
Radiography, ultrasound, and electronic fetal monitoring provide crucial diagnostic information for clinical management of labor when the fetus is affected by osteogenesis imperfecta congenita. The clinical and radiologic absence of a normally formed fetal head was suggestive of anencephaly, but this was excluded by the first ultrasonic examination, which showed a normal fetal head on the bistable oscilloscope. After the membranes ruptured and the amniotic fluid drained, the membranous fetal skull was compressed and deformed between the uterine wall and fetal parts, as demonstrated on the gray-scale ultrasound examination (Fig. 1). Increased head compression during uterine contractions is expected in the absence of protecting skull
bones. This may lead to early deceleration in labor. There was no evidence of cord prolapse in labor but cord compression could occur because of the absence of normal protecting bones. This wmpression may very well create variable deceleration of the FHR. The retroplacental hematoma, although small, indicates some placental separation, which could be responsible for the late deceleration of the FHR pattern. Since all of the above etiologic factors were present in labor, we believe that the observed FHR pattern was the result of these pathophysiologic changes that acted through the fetal nervous system on a congenitally abnormal fetal heart (Fig. 2). Osteogenesis imperfecta congenita, when tirst diagnosed during labor, presents a challenging management problem for the obstetrician. Intrapartum diagnosis of this condition may be possible with careful correlation of the radiographic and ultrasonic findings. REFERENCES
J. R.: Osteogenesis imperfecta, 1n Bergsma, D., editor: Birth Defects. Atlas and Compendium, Baltimore, 1973, The Williams & Wilkins Company, p. 708. 2. Roberts, J. M., and Solomons, C. C.: Management of pregnancy in osteogenesis imperfecta: New perspectives, Obstet. Gynecol. 45: 168, 197.5. I. Lichtenstein,
116 Communications in brief
Am . J. Obstel. ,Gvnecol.
Postoperatively, many patients will develop mild to severe ileus and infections proportional to the degree of contamination and the extent of repair. Parenteral antibiotics should be used prophylactically. Despite prompt surgical management, the reported mortality rate associated with vaginal evisceration is 10 per cent and is most commonly caused by thromboembolic complications. 5- 7 The use of anticoagulants should be individualized . The patient's general condition, the presence of high-risk factors for thromboembolic complications, and the extent of repair will aid in any decision concerning prophylactic anticoagulation. Vaginal vault evisceration is an uncommon gynecologic entity that requires prompt surgical management. Many cases may be repaired vaginally; however, laparotomy should be considered whenever any doubt exists about the viability of the prolapsed bowel or contamina tion of the peritoneal cavity. REFERENCES l. Friedel, W., and Kaiser, I. H.: Vaginal evisceration, Obstet. Gynecol. 45: 315, 1975. 2. Masters, W. H., and Johnson, V. E.: Human Sexual Response, Boston, 1966, Little, Brown, & Company. 3. Dickinson , R. L. : Atlas of Human Sex Anatomy, Baltimore, 1949, The Williams & Wilkins Company , pp. 100-101. 4. Wilson, F., and Swartz, D. P.: Coital injuries of the vagina, Obstet. Gynecol. 39: 182, 1972. 5. Rolf, B. B.: Vaginal evisceration, AM.j. 0BSTET. GYNECOL. 107: 369, 1970. 6. Heys, R. F.: Ileal prolapse through ruptured vagina: complication of Manchester operation, Br. Med. J. 2: 223, 1963. 7. Daley, D., and Callum, E. N .: A case of intestinal obstruction associated with complete procidentia, Br. J. Obstet. Gynaecol. 53: 68, 1946.
Diagnosis and management of fetal osteogenesis imperfecta congenita in labor IOANNIS A. ZERVOUDAKIS, M.D. MICHAEL J. STRONGIN, M . D. KATHRYN A . SCHROTENBOER, M.D. MICHAEL BEHAN , M.D. ELIAS KAZAM , M.D. GRAHAM G. HAWKS, M.D. Department of Obstetrics and Gynecology and Department of Radiology, The New York Hospital-Cornell Medical Center, New York, New York
is a rare malformation, with an incidence of 1 in 50,000. 1 In the
OSTEOGENESIS IMPERFECTA CONGENITA
Reprint requests: Dr. loannis A. Zervoudakis, Department of Obstetrics and Gynecology, Cornell University Medical College, 1300 York Ave., New York, New York 10021. 0002-9378/78/01131 -0116$00.20/0
©
!978 The C. V. Mosby Co.
Fig. 1. Longitudinal sonogram 5 em. to the right of the midline. The head is deformed and the cerebral gyri and midlirw are visible.
majority of cases an autosomal dominant inheritance pattern is seen, with different degrees of expressivity and penetrance although autosomal recessive transmission also has been described . The disorder is characterized uy multiple fractures of bones, joint laxity, short and deformed limbs. deficient ossification of the skeleton, and wormian bones in the skull seen with roentgenography! The fetu s is born dead or may survive for a short period of time. The metabolic abnormality consists of a lack of collagen maturation and increased serum, urine, and amniotic fluid inorganic pyrophosphate levels. 2 The present case report demonstrates the perinatal problems associated with this severe, incurable, and lethal congenital abnormality. A 17-year-old married white woman, gravida 1. para 0. registered at the Obstetrical Clinic at 26 weeks of gestation, with an unremarkable family and past medical history. The husba nd's family history was also negative for congenital ab- · normalities. At 34 weeks the uterus was noted to be smaller in size than expected, and a bistable ultrasound examination showed a normal fetal head with a biparietal diameter of 7.8 em. (mean at 31 to 32 weeks) and polyhydramnios. At 36 weeks the membranes ruptured prematurely with leakage of a large amount of amniotic fluid. On abdominal examination the fetal head was not palpable. A pelvic examination revealed a 3 em . dilated cervix and an abnormal presenting part consisting of soft and bony areas not clearly identifiable. An abdominal radiogram showed absence of a normal fetal skeleton . However, the vertebrae were faintl y visible in the pelvis. A gray-scale ultrasound examination demonstrated a deformed fetal head (Fig. 1) and a bree'h presentation. The cerebral gyri were seen with unusual cla rity, confirming the impression that the skull was abnormally thin. Labor sta rt.ed spontaneously nine hours after premature rupture of the membranes and lasted four hours. External fetal monitoring showed severe variable decelerations with the fetal heart rate (FHR) ranging between 40 and 200 beats per minute. Reat-
Volume 131 Number I
Communications in brief
1 17
~~ .. I
·:.;
Fig. 2. Fetal monitor slip tracing of 28 minutes' duration. to-beat variability was good at the base line but poor during decelerations (Fig. 2). With an assisted breech extraction, a I, I 00 gram stillborn female infant was delivered. The head was asymmetric with prominent calvaria; there was no palpable bone structure. The extremities were short, hyperflexible, and bowed. A postmortem radiogram of the infant showed multiple fractures and deficient skull ossification. At autopsy, the abdominal wall fascia was attenuated and translucent, and the pulmonary artery was calcified. The tricuspid valve showed myxoid degeneration and Ebstein's anomaly, and the lungs were hypoplastic. The placenta weighed 460 grams and a 6 by 4 by 4 em. recent hematoma was noted on the maternal surface.
Radiography, ultrasound, and electronic fetal monitoring provide crucial diagnostic information for clinical management of labor when the fetus is affected by osteogenesis imperfecta congenita. The clinical and radiologic absence of a normally formed fetal head was suggestive of anencephaly, but this was excluded by the first ultrasonic examination, which showed a normal fetal head on the bistable oscilloscope. After the membranes ruptured and the amniotic fluid drained, the membranous fetal skull was compressed and deformed between the uterine wall and fetal parts, as demonstrated on the gray-scale ultrasound examination (Fig. 1). Increased head compression during uterine contractions is expected in the absence of protecting skull
bones. This may lead to early deceleration in labor. There was no evidence of cord prolapse in labor but cord compression could occur because of the absence of normal protecting bones. This wmpression may very well create variable deceleration of the FHR. The retroplacental hematoma, although small, indicates some placental separation, which could be responsible for the late deceleration of the FHR pattern. Since all of the above etiologic factors were present in labor, we believe that the observed FHR pattern was the result of these pathophysiologic changes that acted through the fetal nervous system on a congenitally abnormal fetal heart (Fig. 2). Osteogenesis imperfecta congenita, when tirst diagnosed during labor, presents a challenging management problem for the obstetrician. Intrapartum diagnosis of this condition may be possible with careful correlation of the radiographic and ultrasonic findings. REFERENCES
J. R.: Osteogenesis imperfecta, 1n Bergsma, D., editor: Birth Defects. Atlas and Compendium, Baltimore, 1973, The Williams & Wilkins Company, p. 708. 2. Roberts, J. M., and Solomons, C. C.: Management of pregnancy in osteogenesis imperfecta: New perspectives, Obstet. Gynecol. 45: 168, 197.5. I. Lichtenstein,