Amniotic band syndrome is an acquired embryo-fetopathy. It is rare and is characterized by malformations mainly affecting the limbs but also the skull, face and thoraco-abdominal axis. Its etiopathogenesis remains poo...Amniotic band syndrome is an acquired embryo-fetopathy. It is rare and is characterized by malformations mainly affecting the limbs but also the skull, face and thoraco-abdominal axis. Its etiopathogenesis remains poorly understood. Its diagnosis is essentially clinical and is classically based on the existence of signs such as furrows, amputations and pseudosyndactyly. To show the importance of antenatal diagnosis in resource-limited countries, we report the case of two newborns, one premature at 31 weeks and the other at term, in whom amniotic band syndrome was discovered incidentally at birth. It involved an amputation of the right leg for both cases. The premature baby was born in a context of neonatal sepsis and will succumb to the latter while the 2nd case was released from the hospital alive. Imaging examinations to search for probable congenital malformations could only be carried out for the 2nd case and no accessible congenital malformation had been identified. And as management of the disease, only psychological support to the parents was provided for the 2 cases. The antenatal discovery of a case of amniotic band syndrome in countries with low technical capacity such as Burundi should push clinicians to think in time about treatment options.展开更多
本文报道了1例羊膜带综合征(amniotic band syndrome,ABS)病例。该例孕妇于孕22周+4胎儿系统超声提示未见明显异常,孕30周时,B超发现羊水过多,胎儿水肿可能,收住南京医科大学第一附属医院治疗。入院后予控制血糖,行羊水减量术,B超动态...本文报道了1例羊膜带综合征(amniotic band syndrome,ABS)病例。该例孕妇于孕22周+4胎儿系统超声提示未见明显异常,孕30周时,B超发现羊水过多,胎儿水肿可能,收住南京医科大学第一附属医院治疗。入院后予控制血糖,行羊水减量术,B超动态监测羊水指数,每日胎心监护。孕32周起,孕妇出现胎动进行性减少,胎心监护渐呈正弦波样改变;孕32周+3时因胎儿窘迫行急诊剖宫产终止妊娠,术中发现脐带的胎盘插入部见片状羊膜自该处延续至胎儿左下肢近踝部皮肤,羊膜分离呈多孔状,新生儿左踝部可见明显带状缩窄环,左足水肿明显,确诊ABS。该羊膜带对胎儿左足影响较为直接,脐带的胎盘插入部附近的片状羊膜对胎儿是否存在影响尚无足够证据。该早产儿于出生24 h后因"新生儿窒息"死亡。展开更多
About 3% of all conceptions are associated with major congenital malformations, many of them are lethal developmental defect and genetic in origin or teratogenic (adverse effects of the environment during gametogenesi...About 3% of all conceptions are associated with major congenital malformations, many of them are lethal developmental defect and genetic in origin or teratogenic (adverse effects of the environment during gametogenesis or early embryogenesis). Genetics with or without adverse environment has role in virtually every developmental defect/malformation disorders in causation, predisposition, susceptibility & modulation of disease. Advances in genetics, introduction of triple marker screening, routine obstetric ultrasound examination into obstetric practice & accesses to prenatal diagnosis helped in secondary prevention (early detection & termination) of lethal developmental defects. Ultrasound detection of fetal developmental defects/malformation is common now and often decision on pregnancy solely based on ultrasonic morphological description. This practice leads to difficulty in providing accurate counseling as well as preventing disorder in subsequent pregnancy, in particular early. Hence an understanding of reproductive genetics of major developmental disorders is important for today’s perinatal care specialists. This overview will outline the various lethal developmental defects observed in an advanced reproductive genetics set up and various approaches adopted to derive diagnosis. Detailed assessment of fetus after termination of pregnancy (spontaneous/induced) for fetal anomalies was carried out in most cases. As most cases was referred after termination in formalin routine chromosomal analysis was not possible however, in selected cases targeted FISH analysis with specific chromosomal probe was carried out to confirm clinical diagnosis. Detailed evaluation of fetus is important as this practice often helped in modification of genetic counseling, as well as course of management in the next pregnancy. No molecular diagnostic or screening work was carried out due to non availability of information and facility in past. However, this is important today as many of the lethal developmental defects are yet to be c展开更多
文摘Amniotic band syndrome is an acquired embryo-fetopathy. It is rare and is characterized by malformations mainly affecting the limbs but also the skull, face and thoraco-abdominal axis. Its etiopathogenesis remains poorly understood. Its diagnosis is essentially clinical and is classically based on the existence of signs such as furrows, amputations and pseudosyndactyly. To show the importance of antenatal diagnosis in resource-limited countries, we report the case of two newborns, one premature at 31 weeks and the other at term, in whom amniotic band syndrome was discovered incidentally at birth. It involved an amputation of the right leg for both cases. The premature baby was born in a context of neonatal sepsis and will succumb to the latter while the 2nd case was released from the hospital alive. Imaging examinations to search for probable congenital malformations could only be carried out for the 2nd case and no accessible congenital malformation had been identified. And as management of the disease, only psychological support to the parents was provided for the 2 cases. The antenatal discovery of a case of amniotic band syndrome in countries with low technical capacity such as Burundi should push clinicians to think in time about treatment options.
文摘本文报道了1例羊膜带综合征(amniotic band syndrome,ABS)病例。该例孕妇于孕22周+4胎儿系统超声提示未见明显异常,孕30周时,B超发现羊水过多,胎儿水肿可能,收住南京医科大学第一附属医院治疗。入院后予控制血糖,行羊水减量术,B超动态监测羊水指数,每日胎心监护。孕32周起,孕妇出现胎动进行性减少,胎心监护渐呈正弦波样改变;孕32周+3时因胎儿窘迫行急诊剖宫产终止妊娠,术中发现脐带的胎盘插入部见片状羊膜自该处延续至胎儿左下肢近踝部皮肤,羊膜分离呈多孔状,新生儿左踝部可见明显带状缩窄环,左足水肿明显,确诊ABS。该羊膜带对胎儿左足影响较为直接,脐带的胎盘插入部附近的片状羊膜对胎儿是否存在影响尚无足够证据。该早产儿于出生24 h后因"新生儿窒息"死亡。
文摘About 3% of all conceptions are associated with major congenital malformations, many of them are lethal developmental defect and genetic in origin or teratogenic (adverse effects of the environment during gametogenesis or early embryogenesis). Genetics with or without adverse environment has role in virtually every developmental defect/malformation disorders in causation, predisposition, susceptibility & modulation of disease. Advances in genetics, introduction of triple marker screening, routine obstetric ultrasound examination into obstetric practice & accesses to prenatal diagnosis helped in secondary prevention (early detection & termination) of lethal developmental defects. Ultrasound detection of fetal developmental defects/malformation is common now and often decision on pregnancy solely based on ultrasonic morphological description. This practice leads to difficulty in providing accurate counseling as well as preventing disorder in subsequent pregnancy, in particular early. Hence an understanding of reproductive genetics of major developmental disorders is important for today’s perinatal care specialists. This overview will outline the various lethal developmental defects observed in an advanced reproductive genetics set up and various approaches adopted to derive diagnosis. Detailed assessment of fetus after termination of pregnancy (spontaneous/induced) for fetal anomalies was carried out in most cases. As most cases was referred after termination in formalin routine chromosomal analysis was not possible however, in selected cases targeted FISH analysis with specific chromosomal probe was carried out to confirm clinical diagnosis. Detailed evaluation of fetus is important as this practice often helped in modification of genetic counseling, as well as course of management in the next pregnancy. No molecular diagnostic or screening work was carried out due to non availability of information and facility in past. However, this is important today as many of the lethal developmental defects are yet to be c
