Early
Human
Development,
29 (1992)
357
351-362
Elsevier Scientific Publishers Ireland Ltd. EHD 01303
Antenatal diagnosis of fetal abnormality by ultrasonic real time scanner K. Hara, Y. Fujimoto, H. Tanaka, K. Hayashi, T. Yanagihara and T. Jimbo Department
of Perinato-Gynecology,
Kagawa
Medical
School,
Kagawa
761 (Japan)
Summary Recent progress in antenatal diagnosis has made it possible to detect most fetal malformations which can be treated and cured by neonatal surgery. In this study an analysis of antenatal diagnosis by ultrasonography in the author’s clinic is reported. Key words: antenatal diagnosis; fetal abnormality; nation
fetal surgery; ultrasonic exami-
Illtroductlon The recent progress of antenatal diagnosis has made it possible to detect most of the fetal malformations which can be treated and cured by neonatal surgery. Up to this time, a lot of trials of fetal surgery were reported which further increased the importance of antenatal diagnosis. In our clinic, all pregnant women were routinely screened by ultrasonic real-time scanner to detect fetal malformations. In this study, the analysis of the antenatal diagnosis of our clinic plus the advantages and limits of the diagnostic ultrasound in the management of pregnancy are reported. Material and Methods In the past 7 years at Kagawa Medical School, there were 1678 deliveries after 24 weeks of gestation of which 61 cases (3.55’) were found to have structural Correspondence
to:
K. Hara, Department of Perinato-Gynecology,
Kagawa Medical School, Kagawa 761,
Japan. 0378-3782/92/$05.00 0 1992 Elsevier Scientific Publishers Ireland Ltd. Printed and Published in Ireland
358 TABLE I Correlation between malformations and antenatal diagnosis or maternal transport, (N= 61) Kagawa Medical School 1983-1990. Malformations
Number (Total)
Antenatal diagnosis
Anencephalus Hydrocephalus Brain cyst Cleft palate Pierre Robin syndrome Congenital heart disease Thanatophoric dwarfism Diaphragmatic hernia Ompahlocele Intestinal obstruction Anal atresia Potter syndrome Hydronephrosis Adreno-genital syndrome Urinary tract stenosis Hypospadia Multiple anomalies Trisomy 18 Hydrops fetalis Amniotic band syndrome Polydactylia Teratoma Others
5 3 1 3 2 5 3 1 3 4 1 5 2 I 2 2 4 4 5 1 1 1 2
5 3 1 0 0 2 3 1 3 4 0 5 1 0 2 1 2 2 3 1 0 1 0
Maternal transport
abnormalities. Of these 61 cases, 40 (65.5%) were correctly diagnosed antenatally. Forty-one cases (67.2%) were referred or transferred to our clinic from other hospitals for the confirmation of fetal malformations which were mainly severe abnormalities, such as diaphragmatic hernia, omphalocele, intestinal obstructions and Potter syndrome where intensive neonatal management or neonatal as well as fetal surgery was needed (Table I). The severe malformations, such as anencephaly, hydrocephalus, brain cyst, Thanatophoric dwarfism, diaphragmatic hernia, intestinal obstruction, Potter syndrome and hydrops fetalis were correctly diagnosed during pregnancy. The malformations which were not diagnosed antenatally were mainly slight anomalies or chromosomal anomalies, such as anal atresia or cleft palate. In our ultrasound clinic, all pregnant women are screened according to the check point protocol. With this method, almost all major malformations can efficiently be diagnosed in a short time. In the case of oligohydramnios, polyhydramnios or extreme IUGR, where fetal malformations are expected, careful observation are performed by the experienced examiners. For the screening, the abdominal type convex or linear transducer are used. However, in case of early pregnancy, the transvaginal transducer is also applied.
359
Malformations Anencephaly
The anencepahly can be diagnosed in relatively early weeks of gestation. The round cranial vault is lacking and eyeglass like exophthalmos is seen. Since anencephaly is a fatal malformation, the early detection and termination of pregnancy without delay are very important for the patient. Brain hernia
Brain hernia is a less common malformation. We experienced a case found at 18 weeks. The brain herniates from the occipital portion into the amniotic cavity. In this case, polydactilia and other associated anomalies were found and diagnosed to be Meckel-Gruber syndrome. Amniotic band syndrome
Amniotic band syndrome is relatively rare. Figure 1 shows a case of brain hernia associated with amniotic band syndrome by transvaginal transducer. Biparietal diameter of the head is small and the herniated portion shows a clear asymmetry which is the significant feature of this syndrome. After termination, characteristic multiple anomalies for the amniotic band syndrome were confirmed. Cystic hygroma
Cystic hygroma is a congenital malformation of the lymphatic system which causes the typical lymphatic edema around the fetal neck and thorax. Figure 2 shows a case of cystic hygroma found at 14 weeks. Multicystic retention of the lymphatic fluid around the fetal neck is clearly visualized. In this case, no abnormality had been found at 9 weeks of gestation by ultrasound screening. However, at 16 weeks omphalocele was also detected.
Fig. 1. A case of brain hernia associated with amniotic band syndrome shown by transvaginal transducer.
360
Fig. 2. A case of systic hygroma found at 14 weeks.
Fingers The visualization of the fetal extremities including fingers is also important, because there are a number of congenital anomalies which affect the fetal extremities. With real-time scanner, the fingers can already be clearly visualized before 12 weeks. A typical finger deformity, so called ‘overlapping finger’ can also be detected by ultrasound. We experienced a case of Trisomy 18 at 22 weeks of gestation which was confirmed after termination. The karyotype was partial trisomy 18. Extremities Thanatophoric dwarfism is a very rare malformation. However, it is relatively easy to recognize because of the short extremities, macrocephaly and narrow thorax so called ‘champagne cork’ phenomenon. This dwarfism is a severe fatal malformation,
Fig. 3. Case referred at 35 weeks because of severe polyhydramnios. A tumor like structure, diagnosed to by cyclopia, is seen instead of eyes and nose in the medial view of the fetal face.
361
Fig. 4. Fetal stomach and intestine herniated into the chest cavity on the left side and consequently the heart is displace to the right.
therefore it should be diagnosed at least by 30 weeks. The biometry of the fetal extremities during pregnancy is very important Cyclopia
The evaluation of the fetal facial structure is also possible. The case of Figure 3 was referred to our hospital at 35 weeks because of severe polyhydramnios. Instead of eyes and nose, a tumor like structure was visualized in the median view of the fetal face and diagnosed to be cyclopia. This anomaly is very rare but fatal, therefore it should be diagnosed in the early stage of pregnancy. Urinary tract and kidneys
The informations about the fine structure of kidneys, urinary tract and bladder are fundamental for the correct evaluation of fetal urinary tract malformations. We experienced a case of right side hydronephrosis at 37 weeks. In this case, oligohydramnios was not complicated. Therefore the function of the left kidney was thought to be maintained. Right ureterostomy was performed immediately after delivery. As expected, the renal function was gradually improved. When amniotic fluid is present, at least the renal function of one side is maintained, therefore the invasive procedure to the fetus should not be hurried [ 1,2]. Diaphragmatic
hernia
Antenatal diagnosis of the diaphragmatic hernia is very important, because there is a possibility to be cured by the pediatric intervention. In the case of Fig. 4, the fetal stomach and intestine herniate into the chest cavity on the left side and consequently the heart is displaced to the right side. A large defect of diaphragma was confirmed and ECMO was applied, however because of the severe hypoplastic lung, prognosis was not improved.
362
Intestinal obstructions Although intestinal obstructions are relatively often experienced and easy to diagnose, they should not be regarded as insignificant. Nowadays, due to the progress of pediatric surgery, intestinal obstruction has become a disease which can completely be cured by neonatal surgery. We experienced a case of VATER association. From the extended stomach, duodenal stenosis was suspected. However, the existence of clear cystic contents in the stomach which usually contained granules suggested the esophageal atresia. After birth multiple maformations, esophageal atresia, duodenal atresia, anal atresia, tracheal stenosis, Meckel’s diverticulum and VSD were confirmed. Esophageal reconstruction after gastrostomy, duodenoduodenostomy and abdomino-perineal anorectoplasty after colostomy were successfully performed. Conclusions Diagnostic ultrasound has enabled direct visualization of fetal malformations and has been adopted in many hospitals as a routine screening examination. On the occasion of antenatal diagnosis, not only the problems in the medical field should be considered, but also the ethical and social background are especially important. Although, nowadays, only a limited number of malformations can be treated and cured by neonatal surgery, there are great possibilities in the future. The cooperation between obstetricians and pediatricians as well as pediatric surgeons is most important in order to improve the prognosis for babies with congenital malformations. Acknowledgements This study was supported by the foundation
of the Ministry of Welfare in Japan.
References 1 Hansmann, M. (1985): Ultraschalldaignostik in Geburtshilfe und Gynaekologie. Springer Verlag, Berlin. 2 Hara, K., Yanagihara, T. and Jimbo, T. (1991): The current and future status of fetal therapy. Jpn. J. Pediatr. Surg., 23 (l), 77.
Human
Development,
29 (1992)
357
351-362
Elsevier Scientific Publishers Ireland Ltd. EHD 01303
Antenatal diagnosis of fetal abnormality by ultrasonic real time scanner K. Hara, Y. Fujimoto, H. Tanaka, K. Hayashi, T. Yanagihara and T. Jimbo Department
of Perinato-Gynecology,
Kagawa
Medical
School,
Kagawa
761 (Japan)
Summary Recent progress in antenatal diagnosis has made it possible to detect most fetal malformations which can be treated and cured by neonatal surgery. In this study an analysis of antenatal diagnosis by ultrasonography in the author’s clinic is reported. Key words: antenatal diagnosis; fetal abnormality; nation
fetal surgery; ultrasonic exami-
Illtroductlon The recent progress of antenatal diagnosis has made it possible to detect most of the fetal malformations which can be treated and cured by neonatal surgery. Up to this time, a lot of trials of fetal surgery were reported which further increased the importance of antenatal diagnosis. In our clinic, all pregnant women were routinely screened by ultrasonic real-time scanner to detect fetal malformations. In this study, the analysis of the antenatal diagnosis of our clinic plus the advantages and limits of the diagnostic ultrasound in the management of pregnancy are reported. Material and Methods In the past 7 years at Kagawa Medical School, there were 1678 deliveries after 24 weeks of gestation of which 61 cases (3.55’) were found to have structural Correspondence
to:
K. Hara, Department of Perinato-Gynecology,
Kagawa Medical School, Kagawa 761,
Japan. 0378-3782/92/$05.00 0 1992 Elsevier Scientific Publishers Ireland Ltd. Printed and Published in Ireland
358 TABLE I Correlation between malformations and antenatal diagnosis or maternal transport, (N= 61) Kagawa Medical School 1983-1990. Malformations
Number (Total)
Antenatal diagnosis
Anencephalus Hydrocephalus Brain cyst Cleft palate Pierre Robin syndrome Congenital heart disease Thanatophoric dwarfism Diaphragmatic hernia Ompahlocele Intestinal obstruction Anal atresia Potter syndrome Hydronephrosis Adreno-genital syndrome Urinary tract stenosis Hypospadia Multiple anomalies Trisomy 18 Hydrops fetalis Amniotic band syndrome Polydactylia Teratoma Others
5 3 1 3 2 5 3 1 3 4 1 5 2 I 2 2 4 4 5 1 1 1 2
5 3 1 0 0 2 3 1 3 4 0 5 1 0 2 1 2 2 3 1 0 1 0
Maternal transport
abnormalities. Of these 61 cases, 40 (65.5%) were correctly diagnosed antenatally. Forty-one cases (67.2%) were referred or transferred to our clinic from other hospitals for the confirmation of fetal malformations which were mainly severe abnormalities, such as diaphragmatic hernia, omphalocele, intestinal obstructions and Potter syndrome where intensive neonatal management or neonatal as well as fetal surgery was needed (Table I). The severe malformations, such as anencephaly, hydrocephalus, brain cyst, Thanatophoric dwarfism, diaphragmatic hernia, intestinal obstruction, Potter syndrome and hydrops fetalis were correctly diagnosed during pregnancy. The malformations which were not diagnosed antenatally were mainly slight anomalies or chromosomal anomalies, such as anal atresia or cleft palate. In our ultrasound clinic, all pregnant women are screened according to the check point protocol. With this method, almost all major malformations can efficiently be diagnosed in a short time. In the case of oligohydramnios, polyhydramnios or extreme IUGR, where fetal malformations are expected, careful observation are performed by the experienced examiners. For the screening, the abdominal type convex or linear transducer are used. However, in case of early pregnancy, the transvaginal transducer is also applied.
359
Malformations Anencephaly
The anencepahly can be diagnosed in relatively early weeks of gestation. The round cranial vault is lacking and eyeglass like exophthalmos is seen. Since anencephaly is a fatal malformation, the early detection and termination of pregnancy without delay are very important for the patient. Brain hernia
Brain hernia is a less common malformation. We experienced a case found at 18 weeks. The brain herniates from the occipital portion into the amniotic cavity. In this case, polydactilia and other associated anomalies were found and diagnosed to be Meckel-Gruber syndrome. Amniotic band syndrome
Amniotic band syndrome is relatively rare. Figure 1 shows a case of brain hernia associated with amniotic band syndrome by transvaginal transducer. Biparietal diameter of the head is small and the herniated portion shows a clear asymmetry which is the significant feature of this syndrome. After termination, characteristic multiple anomalies for the amniotic band syndrome were confirmed. Cystic hygroma
Cystic hygroma is a congenital malformation of the lymphatic system which causes the typical lymphatic edema around the fetal neck and thorax. Figure 2 shows a case of cystic hygroma found at 14 weeks. Multicystic retention of the lymphatic fluid around the fetal neck is clearly visualized. In this case, no abnormality had been found at 9 weeks of gestation by ultrasound screening. However, at 16 weeks omphalocele was also detected.
Fig. 1. A case of brain hernia associated with amniotic band syndrome shown by transvaginal transducer.
360
Fig. 2. A case of systic hygroma found at 14 weeks.
Fingers The visualization of the fetal extremities including fingers is also important, because there are a number of congenital anomalies which affect the fetal extremities. With real-time scanner, the fingers can already be clearly visualized before 12 weeks. A typical finger deformity, so called ‘overlapping finger’ can also be detected by ultrasound. We experienced a case of Trisomy 18 at 22 weeks of gestation which was confirmed after termination. The karyotype was partial trisomy 18. Extremities Thanatophoric dwarfism is a very rare malformation. However, it is relatively easy to recognize because of the short extremities, macrocephaly and narrow thorax so called ‘champagne cork’ phenomenon. This dwarfism is a severe fatal malformation,
Fig. 3. Case referred at 35 weeks because of severe polyhydramnios. A tumor like structure, diagnosed to by cyclopia, is seen instead of eyes and nose in the medial view of the fetal face.
361
Fig. 4. Fetal stomach and intestine herniated into the chest cavity on the left side and consequently the heart is displace to the right.
therefore it should be diagnosed at least by 30 weeks. The biometry of the fetal extremities during pregnancy is very important Cyclopia
The evaluation of the fetal facial structure is also possible. The case of Figure 3 was referred to our hospital at 35 weeks because of severe polyhydramnios. Instead of eyes and nose, a tumor like structure was visualized in the median view of the fetal face and diagnosed to be cyclopia. This anomaly is very rare but fatal, therefore it should be diagnosed in the early stage of pregnancy. Urinary tract and kidneys
The informations about the fine structure of kidneys, urinary tract and bladder are fundamental for the correct evaluation of fetal urinary tract malformations. We experienced a case of right side hydronephrosis at 37 weeks. In this case, oligohydramnios was not complicated. Therefore the function of the left kidney was thought to be maintained. Right ureterostomy was performed immediately after delivery. As expected, the renal function was gradually improved. When amniotic fluid is present, at least the renal function of one side is maintained, therefore the invasive procedure to the fetus should not be hurried [ 1,2]. Diaphragmatic
hernia
Antenatal diagnosis of the diaphragmatic hernia is very important, because there is a possibility to be cured by the pediatric intervention. In the case of Fig. 4, the fetal stomach and intestine herniate into the chest cavity on the left side and consequently the heart is displaced to the right side. A large defect of diaphragma was confirmed and ECMO was applied, however because of the severe hypoplastic lung, prognosis was not improved.
362
Intestinal obstructions Although intestinal obstructions are relatively often experienced and easy to diagnose, they should not be regarded as insignificant. Nowadays, due to the progress of pediatric surgery, intestinal obstruction has become a disease which can completely be cured by neonatal surgery. We experienced a case of VATER association. From the extended stomach, duodenal stenosis was suspected. However, the existence of clear cystic contents in the stomach which usually contained granules suggested the esophageal atresia. After birth multiple maformations, esophageal atresia, duodenal atresia, anal atresia, tracheal stenosis, Meckel’s diverticulum and VSD were confirmed. Esophageal reconstruction after gastrostomy, duodenoduodenostomy and abdomino-perineal anorectoplasty after colostomy were successfully performed. Conclusions Diagnostic ultrasound has enabled direct visualization of fetal malformations and has been adopted in many hospitals as a routine screening examination. On the occasion of antenatal diagnosis, not only the problems in the medical field should be considered, but also the ethical and social background are especially important. Although, nowadays, only a limited number of malformations can be treated and cured by neonatal surgery, there are great possibilities in the future. The cooperation between obstetricians and pediatricians as well as pediatric surgeons is most important in order to improve the prognosis for babies with congenital malformations. Acknowledgements This study was supported by the foundation
of the Ministry of Welfare in Japan.
References 1 Hansmann, M. (1985): Ultraschalldaignostik in Geburtshilfe und Gynaekologie. Springer Verlag, Berlin. 2 Hara, K., Yanagihara, T. and Jimbo, T. (1991): The current and future status of fetal therapy. Jpn. J. Pediatr. Surg., 23 (l), 77.
