Pregnancy outcomes among women with high and low risk in first and second trimester prenatal screening analysis / 预防医学

Objective To analyze adverse pregnancy outcomes among women with high risk and low risk during prenatal screening. Methods Clinical data of 180006 pregnancies in 5 prenatal screening center in Hangzhou were collected. We compared the adverse pregnancy outcomes of high and low risk pregnancies. Results Among 180006 pregnancies (age<35 years old), there were 10296 high-risk cases and 169710 low-risk cases, with 168654 cases followed. There were 9406 high-risk cases of Down's syndrome (DS) (5.23％), 273 high-risk cases of Edwards' syndrome (ES) (0.15％) and 617 high-risk cases of open neural tube defect (ONTD) (0.34％) . The detection rate of pregnancy outcome of premature birth, spontaneous abortion, termination of pregnancy, stillbirth in the high risk was 5.46％, 0.80％, 1.80％, 0.37％, respectively, and that rate in low risk results was 3.50％, 0.21％, 0.38％, 0.18％, respectively. Adverse pregnancy outcomes in high-risk group were significantly higher than that in low-risk group (all P<0.001) . The actual incidence rate of DS, ES or ONTD in high-risk group (4.56‰, 1.65‰, 0.97‰, respectively) were significantly higher than that in low-risk group (0.12‰, 0.04‰, 0.09‰, respectively, all P<0.001) . The detection rates of prenatal screening were 70.15％, 68.00％ and 38.46％, and false positive rates were 5.23％ , 0.14％ and 0.34％ . Conclusion High risk of serum prenatal screening analysis is associated with adverse pregnancy outcomes. The number of pregnancies experienced invasive prenatal diagnosis can be reduced by routine serum prenatal screening. That is an Effective method to reduce the birth defects.

Agenesia sacra asociada a disrrafismo espinal e hidrocefalia / Sacra agenesia associated to spinal dysraphism and hydrocephaly

Introducción: la agenesia sacra es una malformación congénita rara que forma parte del síndrome de regresión caudal. Se caracteriza por un grupo de anomalías en las cuales la columna caudal está ausente. Esta enfermedad es la malformación más frecuente en los hijos de madres diabéticas, además se ha relacionado con otros factores predisponentes, como deficiencias de ácido fólico, de vitaminas, uso de insulina en el embarazo, e incluso, la hipoxia. Entre un 30-40 por ciento de pacientes con agenesia sacra completa, pueden tener asociado un mielomeningocele, y el desplazamiento de las raíces nerviosas empeora los trastornos neurológicos. En estos casos, la hidrocefalia, muchas veces también asociada a malformación Chiari tipo II, está ya presente al nacer. Caso clínico: se presenta el caso de un neonato con agenesia sacra asociada a disrrafismo espinal e hidrocefalia. La intervención quirúrgica fue precoz, se le colocó derivación ventrículo peritoneal y se realizó la reparación del defecto del tubo neural. La evolución posoperatoria fue favorable, aunque persistieron los déficits neurológicos preoperatorios. Conclusiones: no se hallaron factores predisponentes en este paciente y el análisis del cariotipo fue normal. Las anomalías óseas de miembros inferiores fueron las más llamativas, así como la presencia de hidrocefalia asociada a malformación Chiari tipo II y mielomeningocele. El tratamiento a estos casos requiere de un enfoque multidisciplinar, y la reparación quirúrgica del mielomeningocele debe ser precoz para conseguir una evolución favorable. Las formas graves pueden ocasionar una muerte temprana neonatal, en cambio, los niños que sobreviven, generalmente presentan inteligencia normal

Introduction: sacra agenesia is a rare congenital malformation as part of the caudal regression syndrome. It is characterized by a group of anomalies in which the caudal cord is absent. This disease is the most common malformation found in children from diabetic mothers but it has also been related to other predisposing factors such as folic acid deficiencies, vitamin deficiencies, use of insulin at pregnancy and even hypoxia. Thirty to forty percent of patients with complete sacra agenesia can also have myelomeningocele, and the displacement of nerve roots worsens the neurological disorders. In these cases, hydrocephaly, many times associated to Chiari malformation type II, is also present at birth. Clinical case: a neonate with sacra agenesia associated to spinal dysraphism and hydrocephaly. Surgical intervention was performed early, a peritoneal ventricular derivation was placed and the neural tube defect was repaired. The post-surgery evolution was favorable, but the preoperative neurological deficits persisted. Conclusions: there were no predisposing factors in this patient and the analysis of the cariotype was normal. The bone anomalies of the lower members were the most remarkable aspects as well as the hydrocephaly associated to Chiari malformation type II and myelomeningocele. The treatment of these cases requires multidisciplinary approach and surgical repair of the myelomeningocele at early phase to achieve favorable evolution. The most severe forms can cause early neonatal death; however, those surviving children generally present normal intelligence coefficient

Re-closure by the Skin Graft of the Surgically Induced Spinal Open Neural Tube Defect in Chick Embryos

OBJECTIVE: To investigate a re-closure capacity and chronological changes of re-closure, the histologic findings are observed after skin graft on surgically induced spinal open neural tube defect(ONTD) in chick embryos. METHODS: Embryos were divided into two groups: graft and control. In the embryos of the graft, a skin fragment from another chick embryo of embryonic day 7 was grafted on the ONTD immediately after neural tube incision. Embryos were re-incubated in ovo, up to postoperative days(PODs) 3, 5, 7, 10 and sacrificed. Rate of re-closure was compared according to the group of the embryo and the observation time point. Serial changes in histological appearance were observed to investigate whether the re-closured ONTDs regain normal shape. Statistical analysis was performed using the SAS and x2 test. RESULTS: On PODs 3, 5, 7, and 10, re-closure rates of the graft were 87, 60, 53 and 88%, and those of the control were 13, 0, 0 and 20%, respectively. They showed more frequent re-closure of ONTDs by the skin allograft in the graft than control. There was no statistical difference between the closure rates of adjacent POD subgroups. Some embryos of the closed groups revealed complete closure of the neural tube and there was no difference from the normal neural tube. CONCLUSION: Skin graft on the surgically induced ONTD in the embryonic period has a protective effect on the spinal cord. It is suggested that the prenatal skin graft on the lesions of fetal myelomeningocele might prevent repeated spinal cord damage.

A case of false positive amniotic acetylcholinesterase in a normal pregnancy / 대한산부인과학회잡지

Maternal serum alpha-fetoprotein (AFP) has been used for a long time for the prenatal diagnosis of neural tube defects in women at midtrimester of gestation. But AFP is elevated not only in cases of neural tube defects, but also in fetus with congenital nephrosis, abdominal wall defects, fetal demise, low birth weight or simply erroneously calculated gestational age. So, when maternal serum AFP is increased, gestational age of the fetus must be re-evaluated and targeted ultrasonographic evaluation is indicated to rule out neural tube defects. If NTDs are suspected or ultrasound is non-diagnostic, amniotic fluid AFP are measured and when AF-AFP is elevated, the presence or absence of acetylcholinesterase should be evaluated. The detection rate of open neural tube defects using amniotic acetylcholiesterase is reported to be as high as 96 to 99% with a 0.06% and 0.14% of false positive rate in amniotic fluids non-contaminated and contaminated by blood, respectively. We report a case with elevated mid-trimester MS-AFP, AF-AFP and positive amniotic acetylcholin-esterase, but in which repeated sonographic findings were normal, and result in delivery of a heathy baby without anomalies.

A case of false positive amniotic acetylcholinesterase in a normal pregnancy / 대한산부인과학회잡지

Maternal serum alpha-fetoprotein (AFP) has been used for a long time for the prenatal diagnosis of neural tube defects in women at midtrimester of gestation. But AFP is elevated not only in cases of neural tube defects, but also in fetus with congenital nephrosis, abdominal wall defects, fetal demise, low birth weight or simply erroneously calculated gestational age. So, when maternal serum AFP is increased, gestational age of the fetus must be re-evaluated and targeted ultrasonographic evaluation is indicated to rule out neural tube defects. If NTDs are suspected or ultrasound is non-diagnostic, amniotic fluid AFP are measured and when AF-AFP is elevated, the presence or absence of acetylcholinesterase should be evaluated. The detection rate of open neural tube defects using amniotic acetylcholiesterase is reported to be as high as 96 to 99% with a 0.06% and 0.14% of false positive rate in amniotic fluids non-contaminated and contaminated by blood, respectively. We report a case with elevated mid-trimester MS-AFP, AF-AFP and positive amniotic acetylcholin-esterase, but in which repeated sonographic findings were normal, and result in delivery of a heathy baby without anomalies.

Re-closure Capacity of Surgically Induced Open Neural Tube Defect in Chick Embryos

OBJECTIVE: To determine whether there is a re-closure capacity of the open neural tube defect(ONTD) and to characterize its re-closing process, the morphological changes and the re-closure rate of a surgically induced ONTD are examined chronologically in early chick embryos. METHODS: Embryos of Hamburger and Hamilton stage 18-19 were used. The posterior roof of the central canal in the closed neural tube was incised longitudinally at the wing bud level. The incision was 3 somites long, which was equivalent to approximately 0.8mm. Following surgery, the embryos were re-incubated in ovo for three or five days. The area of the incision was observed with a stereomicroscope. Some of them were examined histologically with the transverse section of the wing bud area. They were divided into two groups(POD 3 and POD 5) according to the re-incubation period at the time of sacrifice and then into two subgroups(re-closure and defect group) according to the presence of ONTD at the operative site. RESULTS: The results showed : 1) Re-closure of ONTD occurred in 58%(23/40) of POD 3 embryos and 46%(22/48) of POD 5 embryos. The difference of re-closure was not statistically significant. 2) Most of the re-closed neural tubes revealed no significant difference from the controls in the histological examination. 3) In POD 3 and 5 groups, there was a tendency of zipper-like fusion in both re-closure and defect groups. CONCLUSION: The results of study showed that the neural tube of the early chick embryo has a re-closure capacity after being surgically reopened. Seemingly, re-closure occurs mainly before POD 3 and progresses from the ventral to the dorsal part of the neural tube. The mechanism of re-closure needs to be investigated further.

Analysis of Serum Triple-Marker Screening in In Vitro Fertilization and Naturally Conceived Pregnancy / 대한산부인과학회잡지

OBJECTIVE: To compare and analysis the result of second trimester maternal serum triple marker screening test for Down syndrome and open neural tube defects in singleton pregnancies conceived by conventional in vitro fertilization- embryo transfer (IVF-ET) with that of the naturally conceived pregnancies. METHODS: Maternal serum screening tests during the second trimester in 49 singleton pregnancies conceived by IVF-ET and 813 singleton pregnancies conceived naturally of whom delivery outcome was normal in each other were analyzed from April 1997 to June 2000. RESULTS: 4 (8.2%) out of 49 cases of IVF-ET singleton pregnancies compared with 62 (7.6%) out of 813 cases of naturally conceived pregnancies had a positive RESULTS: for Down syndrome or open neural tube defects. The median level of the triple markers were 1.03 0.47 multiples of the median (MoM) in IVF-ET pregnancies vs 1.05+/-0.39 MoM in natural pregnancies for alpha-fetoprotein (AFP), 1.11+/-0.64 vs 1.19+/-1.13 MoM for unconjugated estriol (uE3) and 1.21+/-0.56 vs 1.11+/-0.59 MoM for human chorionic gonadotropin (hCG). CONCLUSION: The positive rate of triple test and the median values of triple markers for Down syndrome and open neural tube defect between two groups were not different in terms of statistical significance. To provide an objective assessment of an individual patient's risk of fetal abnormality, the impact of IVF-ET on triple marker biochemistry should be studied further in larger samples and adjustments made if appropriate.