ABSTRACT
Abstract The clinical management and decision-making in pregnancies in which there is suspicion of lethal fetal malformations during the prenatal period, such as lethal skeletal dysplasia (SD), demand a multidisciplinary approach coordinated by an experienced physician. Based on the presentation of a case of osteogenesis imperfecta type IIA, we offer and discuss recommendations with the intention of organizing clinical and laboratory investigations aiming toward the clinical management, prognosis, and etiological diagnosis of these malformations, as well as genetic counselling to patients who wish to become pregnant.
Resumo O manejo clínico e a tomada de decisões médicas em gestantes com suspeita de malformação letal em um feto no período pré-natal, tal qual uma displasia esquelética letal, demandam uma abordagem multidisciplinar coordenada por um médico experiente. Baseado na apresentação de um caso de osteogênese imperfeita tipo IIA, recomendações são apresentadas e discutidas com a intenção de organizar as investigações clínicas e laboratoriais visando o manejo clínico, o prognóstico, e o diagnóstico etiológico dessas malformações, e o aconselhamento genético para as pacientes que desejam engravidar.
Subject(s)
Humans , Female , Pregnancy , Adult , Osteogenesis Imperfecta/diagnosis , Fetal Diseases/diagnosis , Phenotype , Fatal OutcomeABSTRACT
Objective To summarize the expreiences of management of triplet and quaternion pregnancy mothers and their in our hospital. Methods The clinical data of seven cases of multiple pregnancy (6 case of triplet and 1 case of quaternion) in our department from 1992 to 2003 were analyzed retrospectively. Results All seven patients had middle or severe anemia and hypoproteinemia in second and third trimester. The preterm sign happened in 2/3 cases in 32-36 gestation weeks. The patients were admitted in hospital in 27-34 gestation weeks because of obstetric complication. 6 triplet cases delivered during 35th-37th gestation weeks, except the quaternion one delivered at 33 gestation weeks. There were 22 newborns in those cases, the all babies Apgar's scores were above 9, the birth weights of all babies were above the 3th percent of Chinese singleton gestation and newborn estimated curves, and the birth weights of half babies were above the 10th percent position. Conclusion The key points for managing the multiple pregnancies, especially larger than 3 babies were the following ⑴All pregnant women had a good prenatal care. ⑵Pregnant women rested well, anemia must be corrected, and the adequate nutrition was supplied, especially in third trimester. ⑶Using ultrasound to determine the cervix length and evaluate the risk of preterm delivery, when the preterm delivery sign happened, the inhibiting drugs must be used cautiously and rationally. ⑷ After the antenatal dexamethasone therapy was applied around 36 gestation weeks, selective cesarean section was preferred to deliver the babies. If good prenatal care can be applied, a good outcome for triplets and quaternion can be achieved, close to that of same gestation weeks singleton.