产前超声诊断前脑无裂畸形

目的 了解产前超声诊断前脑无裂畸形(HPE)的特征,加强对此类畸形的认识. 方法回顾性分析我院2001年5月至2007年11月,产前超声诊断与疑似诊断HPE 30例,超声重点观察颅内结构、颜面部畸形及脑与面部以外的结构畸形,部分病例行染色体和产前MRI检查.结果 30例产前诊断或疑似HPE病倒中经尸检、引产后MRI或CT确诊25例,男10例,女15例;误诊5例,尸检分别为脑积水、孔洞脑和水脑.无叶型HPE 21例(产前超声与生后尸检、引产后MRI或CT一致);半叶型4例(产前MRI与产后尸检诊断).头颅大小径线改变者占83.3 0A(20/24),双顶径小于正常者占62.5%(15/24).面部以中轴部畸形多见,22例(88.0%)有面部畸形,全部有限距的变化,鼻部异常11例、中央性唇、腭裂11例.合并复杂先天性心脏病10例(40.0%).10例行脐血或羊水染色体检查,核型异常5例,其中4例有复杂先天性心脏病. 结论 产前超声检查是诊断HPE的重要方法,诊断准确率高,但对前脑无裂分型有困难,MRI对分型有肯定价值.HPE均有颅内结构异常,常伴有颜面部畸形,少数不伴有颜面部畸形.脑与面部以外的结构畸形中以复杂先天性心脏病为主.HPE与染色体异常高度相关.     

Prenatal diagnosis of alobar holoprosencephaly by two-dimensional and three-dimensional ultrasound

The aim of this study is to evaluate the sonographic characteristics of alobar holoprosencephaly (AH) in utero. Seventeen cases were diagnosed at 16-30 weeks' gestation by two-dimensional and three-dimensional ultrasound from October 1994 to December 1998. In this series, the prenatal prevalence was 1 out of 415 and the detection rate of AH by prenatal ultrasound was 100%. Eleven cases (64.7%) had concurrent facial anomalies. Cleft lip and hypotelorism were the most common associated facial anomalies (72.7%). Two cases (11.8%) were twin pregnancy with one fetus affected. We present one of the largest series in the literature and compare it with previous reports. From this series, we concluded that: (1) intracranial findings, including monoventricle, fused thalami, and the absence of midline structures, were reliable sonographic characteristics for prenatal diagnosis; (2) cleft lip and hypotelorism seemed to be more common associated facial malformations than cyclopia or cebocephaly with AH; and (3) although three-dimensional ultrasound did not change the diagnosis of AH made by two-dimensional ultrasound in this series, three-dimensional ultrasound does assist in defining the severity and extent of AH.     

Drug-induced pineal gigantism in rabbits as a tool to study the pineal—gonadal interaction

The combination of the Mayer—Rokitansky—Küster (MRK) syndrome with renal anomalies is well known (incidence: 36%). The combination with skeletal anomalies is also known (incidence: 10%). However, the coincidence with ear anomalies is rare, and the coincidence with facial anomalies is extremely rare. The combination of the MRK syndrome with renal, skeletal, ear and facial anomalies is described in a case report with a review of the literature. It is not only worthwhile to be alert for urinary tract anomalies in patients with the MRK syndrome, but also to study the skeletal and auditory systems in these patients.     

Antenatal detection and impact on outcome of congenital diaphragmatic hernia: a 12-year experience in Auvergne, France

OBJECTIVE: To evaluate the detection rate of prenatal diagnosis and its impact on outcome in congenital diaphragmatic hernia (CDH). STUDY DESIGN: We retrospectively studied 51 cases of CDH registered in the Auvergne area from January 1992 to December 2003 (Birth Defect Registry of Auvergne, Institut Européen des Génomutations). Our main outcome measurements were the detection rate of prenatal diagnosis, the incidence and types of associated anomalies and outcome (termination of pregnancy, in utero fetal demise, neonatal death, survival at the time of registration). RESULTS: Twenty-nine cases of isolated CDH were identified of which 13 were detected prenatally (45%) at a mean gestational age of 26.1 weeks and 22 cases of CDH with associated anomalies with prenatal diagnosis of CDH or any associated anomaly in 16 (73%; p=0.03) at a mean gestational age of 23.9 weeks. In the prenatally detected group (29 cases), there was 1 (3%) in utero fetal death (IUFD), 17 (59%) terminations of pregnancy (TOP) and 11 (38%) live births with early neonatal death in 7 (24%) cases despite delivery in a tertiary care centre in 10/11 cases (four survivors=14%). Most of the undetected cases were isolated CDH (16/22=73%) of which 1 (5%) was a stillborn and 21 (95%) live births with 17 survivors (77%) although 15/21 (71%) were not born at the tertiary care centre (p=0.001). The overall survival rate was 41% with a large variability depending on associated anomalies and prenatal diagnosis (p<0.0001) (prenatally detected cases: 3/13 (23%) isolated CDH and 1/16 (6%) CDH with associated anomalies; undetected cases: 13/16 (81%) isolated CDH and 4/6 (67%) CDH with associated anomalies). CONCLUSION: Prenatal diagnosis of CDH leads to the delivery of affected babies in tertiary care centres but it remains a challenge in particular for isolated CDH cases and it is associated with a lower survival rate. Associated anomalies contribute to prenatal detection, are related to a higher TOP rate but do not facilitate the detection of diaphragmatic defect per se.     

The diagnosis of fetal hydrocephalus

Thirty cases of fetal hydrocephalus were diagnosed at the perinatal ultrasound unit of Yale-New Haven Medical Center during a 41 month period. Prenatal ultrasound was found to be highly valuable in the detection of fetal hydrocephalus. However, the antenatal detection of associated anomalies was not as uniformly successful. The importance of a complete sonographic evaluation of intracranial and extracranial anatomy is stressed, as 10 patients with documented hydrocephalus (37%) had associated intracranial anomalies and 17 patients (63%) had associated extracranial anomalies. In this series, isolated hydrocephalus without associated anomalies occurred in only four patients (15%).     

Evaluation of a rapid optical immunoassay-based test for group B streptococcus colonization in intrapartum patients

Objective.?To investigate the association between cleft lip and/or palate and perinatal mortality.

Methods.?A retrospective review was performed of cases of cleft lip/palate born to West Midlands residents from 1995 to 1997. Perinatal mortality for identified cases was compared with all births from 1995 to 1997.

Results.?347 cases of cleft lip and/or cleft palate were delivered from 1995 to 1997. Thirty-six pregnancies were terminated due to parental wishes - 2 were registerable births. There were 310 spontaneous registerable births (stillbirths/livebirths) with cleft lip and/or palate and 1 further late fetal loss. In 220 (70.5%), the lesion was isolated. Of these, there were 7 perinatal deaths, 5 had post mortems and no additional anomalies were identified. In 92 (29.5%) cases other abnormalities were identified. The overall perinatal mortality rate (PNMR) in the West Midlands, was 10.0/1000 total births. The overall PNMR for babies with facial clefts was 89.7/1000 total births. The PNMR for those with associated anomalies was 228.3/1000 live/still births. The PNMR for isolated facial clefts was 31.8/1000 live/still births, significantly higher than the background population (OR 3.3, 95% CI: 1.5–7.0).

Conclusion.?Consideration should be given to screening the fetus at 20–24 weeks for facial deformity. This has implications for detection both of fetal anomalies and of a population at risk for adverse outcome.     

Outcome of cystic hygroma in fetuses with normal karyotypes depends on associated findings

OBJECTIVE: To determine the associated diagnostic findings which are linked with adverse fetal outcome in nuchal cystic hygroma. STUDY DESIGN: Based on a series of 32 cases, we determined the sonographic morphology of the hygroma, associated structural anomalies, karyotypes and autopsy findings. Intrauterine fetal death, spontaneous abortion and abnormal karyotypes were assigned as adverse outcome parameters. RESULTS: The mean gestational age at diagnosis was 14.4 weeks (range 10-21). There were 18 nonseptated and 14 septated hygromas. Besides hygroma, associated sonographic detectable structural anomalies were observed in 17 cases (53.1%). The greatest number of associated sonographic anomalies were hydrops (31.3%), generalised skin oedema (6.3%) and pterygium colli (6.3%). Cytogenetic analysis revealed an abnormal karyotype in 13 of 26 (50%) invasive procedures. Turner syndrome and Trisomy 18 (both 15.4%) were the most frequent cytogenetic abnormalities. Autopsy was performed in 24 cases and 16 cases (66.7%) had an associated autopsy finding to hygroma colli. The most frequent associated autopsy findings were limb and craniofacial anomalies (both 25%). Only 3 (9.4%) mothers gave birth to healthy newborns. The overall fetal adverse outcome rate was 68.8% (22 cases). CONCLUSIONS: Fetuses with NCH are at high risk for adverse outcome and detailed prenatal diagnosis including invasive procedures should be offered. According to the presented autopsy findings, to determine fetal outcome in NCH cases with normal karyotypes, detailed sonography should be concentrated beside the exclusion of fetal heart defects and existence of hydrops fetalis, on the skeletal, urogenital and craniofacial anomalies, as these might cause severe morbidity.     

Congenital anomalies associated with esophageal atresia: Saudi experience.

Eighty-nine Saudi newborns with esophageal atresia/tracheoesophageal fistula (EA/TEF) were managed at King Faisal Specialist Hospital and Research Center (KFSH & RC), Riyadh, Saudi Arabia between the years 1980-1995; there were 54 boys and 35 girls. Forty-four (49%) newborns had associated congenital anomalies. Genitourinary anomalies were present in 19 (21%), cardiovascular in 17 (19%), gastrointestinal in 9 (10%), central nervous system in 8 (9%), musculoskeletal in 7 (8%), chromosomal anomalies in 4 (5%), and head and neck in 5 (6%) cases. In general, the survival rate was higher in patients without associated anomalies than with associated anomalies (93 vs. 77%, p = 0.028). However, all patients with head and neck anomalies survived, whereas all patients with chromosomal anomalies died. With these exceptions, the survival rate was similar regardless of the type or the number of associated anomalies. The average birth weight was similar between survivors and non-survivors (2572 vs. 2376 g) and between patients with or without associated anomalies (2566 vs. 2519 g). We conclude that the survival rate of newborns with EA/TEF is high, especially in the absence of associated anomalies. Investigations for possible associated genitourinary and cardiovascular anomalies should be considered for all patients with EA/TEF.     

Right ductus arteriosus: facts and theory

ObjectiveTo report fetal right-sided persistent ductus arteriosus (RPDA) in association with right aortic arch (RAA).Study designExtensive sonographic fetal anatomical scans were consecutively performed on 19,874 private, self-referred pregnant women who wanted early sonographic detection of fetal anomalies.ResultsOf 19,874 transvaginal (TVS) sonographic examinations 40 fetuses had right aortic arch (RAA) and four of them (10%) had RPDA. We also diagnosed seven cases of RPDA with involvement of the left aortic arch where a right-curving pattern (“L” shape) parallel to the right pulmonary artery was suggestive of Rt. DA with left aortic arch. Only one (9%) of the RPDA cases was associated with a cardiac anomaly (double outlet right ventricle). None of the other eight RPDA cases had any discernible anomalies, and all of the fetuses with RPDA had normal karyotypes.ConclusionsIn 10% of the fetuses with right aortic arch the ductal arch was also on the right side. An unusual-looking DA may be a RPDA associated with the left aortic arch.In most cases, the RPDA is a normal variant not associated with other anomalies.     

Are isolated facial cleft lip and palate associated with increased perinatal mortality? A cohort study from the West Midlands Region, 1995-1997.

OBJECTIVE: To investigate the association between cleft lip and/or palate and perinatal mortality. METHODS: A retrospective review was performed of cases of cleft lip/palate born to West Midlands residents from 1995 to 1997. Perinatal mortality for identified cases was compared with all births from 1995 to 1997. RESULTS: 347 cases of cleft lip and/or cleft palate were delivered from 1995 to 1997. Thirty-six pregnancies were terminated due to parental wishes--2 were registerable births. There were 310 spontaneous registerable births (stillbirths/livebirths) with cleft lip and/or palate and 1 further late fetal loss. In 220 (70.5%), the lesion was isolated. Of these, there were 7 perinatal deaths, 5 had post mortems and no additional anomalies were identified. In 92 (29.5%) cases other abnormalities were identified. The overall perinatal mortality rate (PNMR) in the West Midlands, was 10.0/1000 total births. The overall PNMR for babies with facial clefts was 89.7/1000 total births. The PNMR for those with associated anomalies was 228.3/1000 live/still births. The PNMR for isolated facial clefts was 31.8/1000 live/still births, significantly higher than the background population (OR 3.3, 95% CI: 1.5-7.0). CONCLUSION: Consideration should be given to screening the fetus at 20-24 weeks for facial deformity. This has implications for detection both of fetal anomalies and of a population at risk for adverse outcome.     

The prenatal diagnosis of Pierre-Robin sequence.

The purpose of this study was to evaluate the spectrum of prenatal sonographic and chromosomal findings, associated anomalies and perinatal and neonatal outcomes in cases with Pierre-Robin sequence. All cases (20) with Pierre Robin sequence, who were born at China Medical College Hospital between 1990 and 1997, were included and analysed in this series. 12 pregnancies (60 per cent) were complicated by polyhydramnios and 9 (45 per cent) were combined with cleft palate. Four cases (20 per cent) with cardiac anomalies were also observed. Two fetuses (10 per cent) had abnormal karyotyping (one trisomy 21, one trisomy 18). All fetuses were delivered at or near term. Male deviation was observed in cases with isolated Pierre-Robin sequence or combined mild anomalies (male female ratio: 13:3). Two neonatal mortalities and three with mental retardation were observed. This investigation provides a basis for counselling patients with fetal micrognathia or neonatal Pierre-Robin sequence. The main prenatal sonographic findings of Pierre-Robin sequence are micrognathia, polyhydramnios and cleft palate. In cases of polyhydramnios, sonographic examination of the facial profile and palate are recommended. After the finding of polyhydramnios, micrognathia, and even cleft palate, clinicians should be aware of the possibility of neonatal Pierre-Robin sequence. Cardiac evaluation and karyotyping is also recommended.     

Role of fetal autopsy as a complementary tool to prenatal ultrasound

Abstract

Aim: To correlate and compare prenatal ultrasound with fetal autopsy examination to detect structural births defects and provide specific diagnoses.

Methods: 141 second trimester fetuses (<20 weeks and <500?g) where pregnancy was terminated for structural birth defects and/or severe intra-uterine growth restriction (IUGR) or intra-uterine death, referred to our tertiary care private, teaching hospital were examined by a team of experienced pathologist and clinical geneticist. Findings of pathology examination were compared to those provided by ultrasound examination.

Results: A total of 301 structural abnormalities were noted. Specific etiology was identified or syndromic diagnosis was possible in 57/141 (40.4%) cases. The maximum number of systemic anomalies (45/301, 14.95%) was noted in the central nervous system (CNS). CNS anomalies were most commonly associated with facial dysmorphism including cleft lip/palate etc. There was a complete agreement between ultrasound and autopsy findings in 41/141 (29.07%) cases, additional information that did not influence the final diagnosis and/or counseling was obtained by autopsy in 65/1416 (46.09%) cases, while additional information that influenced the final diagnosis and/or counseling was provided by autopsy in 35/141 (24.82%) cases.

Conclusion: Fetal autopsy serves as a complementary tool to fetal ultrasound due to its ability to pick up minor anomalies and/or anomalies that were missed on ultrasound. It may be routinely performed as an attempt to reach a specific diagnosis and offer appropriate counseling to couples, following pregnancy termination for fetal anomalies.     

Massive fetomaternal hemorrhage and fetal death: are they predictable?

OBJECTIVE: To report the incidence of massive fetomaternal hemorrhage (FMH) associated with fetal death and to test the hypothesis that FMH is more likely to occur in those with risk factors for FMH. STUDY DESIGN: All cases of fetal death of infants weighing > 500 gm between January 1, 1990 and December 31, 1994 were reviewed for evidence of massive FMH (> or = 2% fetal cells in the maternal circulation as measured by the Betke-Kleihauer test). Women with risk factors were compared with those without risk factors with respect to the occurrence of massive FMH. RESULTS: The prevalence of massive FMH was 14 of 319 (4.4%) cases, occurring in 4 of 102 (3.9%) of those with risk factors and 10 of 217 (4.6%) of patients without risk factors (p = 0.78). Otherwise unexplained fetal death was associated with massive FMH in 5 of 141 (3.5%). Major fetal anomalies were present in 5 of 14 (35.7%) cases of massive FMH. CONCLUSION: Clinical risk factors do not predict an increased likelihood of massive FMH. Massive FMH is associated with fetal anomalies. Betke-Kleihauer testing should be performed in all cases of fetal death, including those with anomalies regardless of the presence or absence of risk factors for FMH.     

Prenatal diagnosis of a fetus with distal 10q trisomy.

Distal 10q trisomy is a well-defined but rare syndrome. Most cases are diagnosed in infancy or in childhood and rarely include prenatal findings. We present a case of fetal distal 10q trisomy with abnormal prenatal sonographic findings. A 19-year-old primigravida was referred for genetic counselling at 18 gestational weeks because her husband had a familial history of congenital anomalies. Genetic amniocentesis was thus performed and showed fetal distal 10q trisomy (10q24.1-->qter), 46,XX,der(22)t(10;22)(q24.1;p11.2)pat, resulting from paternal t(10;22) reciprocal translocation. Level II ultrasonograms further demonstrated bilateral hydronephrosis, ventricular septal defect and facial dysmorphism ascertained by three-dimensional ultrasound. The pregnancy was terminated at 22 gestational weeks. Post-mortem autopsy confirmed the sonographic findings. We suggest that abnormal prenatal sonographic findings such as cardio-vascular, renal and facial malformations should alert cytogeneticists to search for subtle chromosomal abnormalities.     

Trisomies and other chromosome abnormalities detected after positive sonographic findings

OBJECTIVE: To evaluate the rate of trisomies and other chromosome abnormalities after positive ultrasound findings in thefirst and second trimester of pregnancy. STUDY DESIGN: The study investigated chromosome abnormalities detected in cases with prior abnormal ultrasoundfindings. During a 10-year period there were 1907 invasive interventions carried out with the purpose of chromosome analysis. The intervention was genetic amniocentesis in 1619 cases and chorionic villus sampling in 288. RESULTS: Karyotyping revealed 103 cases (5.4%) of chromosome abnormalities. Abnormalities with subcutaneous edema were examined: abnormal karyotype was found in 20% of cases with nonimmune hydrops, 48.1% of cases with cystic hygroma and 53.8% of cases with nonimmune hydrops and cystic hygroma together, 8.3% of cases with nuchal edema in the first trimester and 5.5% in the second trimester. The incidence of chromosome abnormalities in cases of cerebral anomalies was 6.3% of cases with ventricular dilatation, 3.6% of cases with choroid plexus cysts and 15.9% of cases with other cranial anomalies. Regarding abnormalities of the heart, isolated echogenic intracardiac focus and ventricular septal defects were not associated with chromosome abnormality, but, in conjunction with other positive ultrasound findings, the incidence of chromosome abnormalities was 7.9% and 26.7%, respectively. Other anomalies of the heart and large blood vessels showed an abnormal karyotype incidence of 18.2%. In cases of unilateral pyelectasis unassociated with other anomalies, the incidence of chromosome abnormalities was 1%. In cases of bilateral pyelectasis or pyelectasis associated with other anomalies, the incidence was 3%. In terms of anomalies of the abdominal wall and abdomen, the incidence of association with chromosome abnormalities was 9.5% in cases of omphalocele, 11.8% in cases of duodenal atresia and 5.7% in cases of echogenic bowel. In cases of short femur and humerus the rate of abnormal karyotypes was 16%. CONCLUSION: Ultrasound plays an important role in prenatal diagnosis. In cases of positive ultrasound findings, karyotyping is reasonable.     

Prospective ultrasound diagnosis of Pallister-Killian syndrome in the second trimester of pregnancy: the importance of the fetal facial profile

The Pallister-Killian syndrome (PKS) represents a rare polymalformative complex characterized by a tissue-specific mosaic distribution of an additional isochromosome 12p and characterized by diaphragmatic hernia, rhizomelic limb shortening, facial anomalies and, rarely, acral hypoplasia. Since diaphragmatic hernia and acral hypoplasia can be also found in Fryns syndrome, the differential diagnosis between the two conditions depends on the demonstration of the 12p isochromosome by FISH. Prenatal diagnosis of PKS has been reported in cases submitted to karyotyping due to advanced maternal age or congenital anomalies detected on second trimester ultrasound. Among the ultrasound-detected malformations, little attention has been paid to facial anomalies. We describe a case in which PKS was prospectively suspected on the basis of the various anomalies detected at ultrasound, namely diaphragmatic hernia, rhizomelic limb shortening, and abnormal facial profile. The diagnosis was then confirmed by FISH on amniocytes and peripheral lymphocytes. In the present case, the disclosure of typical facial abnormalities significantly contributed to the differentiation between PKS and Fryns syndrome.     

Omphalocele: clinical outcomes in cases with normal karyotypes

OBJECTIVE: This study was undertaken to examine neonatal outcomes in karyotypically normal cases of omphalocele with respect to mode of delivery, presence of associated anomalies, presence of extracorporeal liver, and method of abdominal wall closure. STUDY DESIGN: We reviewed 36 cases of omphalocele with delivery at University of North Carolina Hospitals between 1988 and 2001. Elective terminations and pregnancies resulting in miscarriage before 20 weeks' gestation were excluded. RESULTS: Perinatal mortality rate was 19%. Rate of composite neonatal morbidity was 25%. Associated major anomalies were present in 11 (31%) cases and were associated with increased neonatal mortality. Cesarean deliveries were performed in 21 (58%) cases and were not associated with increased primary closure rates or decreased neonatal morbidity and mortality. Extracorporeal liver was present in 27 (75%) cases and was associated with decreased rates of primary closure but did not affect neonatal outcome. CONCLUSION: In cases of ongoing omphalocele, perinatal mortality rates are low in the absence of associated anomalies or genetic defects. Intracorporeal liver was not associated with increased rates of associated anomalies or was it associated with increased neonatal morbidity or mortality.     

The degree of antenatal ventriculomegaly is related to pediatric neurological morbidity

Objective: Our hypothesis was that the degree of antenatally diagnosed cerebral ventriculomegaly is related to aneuploidy, perinatal mortality and long-term neurological morbidity. Methods: Ninety-one cases of ventriculomegaly identified from 1 June 1994 to 1 July 1999 were examined for prenatal, intrapartum and neonatal complications. Pediatric follow-up was reviewed for infants with ventriculomegaly from birth up to as long as 4 years. Minor neurological morbidity was defined as a score of 70-80 on the clinical adaptive test/clinical linguistic and auditory milestone scale and included mild motor or language delay. Major morbidity included a score of < 70, evidence of cerebral palsy, or seizure disorder. The incidence of neurological complications was compared, on the basis of the degree of ventriculomegaly, with group 1 being > 10-15 mm and group 2 being > 15 mm. Results: Twenty-seven cases (18 with neural tube defects and nine with holoprosencephaly) were excluded. Among the remaining 64 patients, 39 had a ventricular diameter of > 10-15 mm and comprised group 1. Five of the 39 cases (12.8%), all with other ultrasound anomalies, elected to terminate. The incidence of aneuploidy in group 1 was 14.2%. Among the 19 cases with isolated ventriculomegaly, 17 (89%) were normal and two (11%) had minor neurological morbidity. In group 1 there were two cases associated with cytomegalovirus (CMV) infection. Of the 25 cases in group 2, eight (32%), all with other ultrasound anomalies, elected to terminate. The incidence of aneuploidy in group 2 was 17.4%. For the nine cases with isolated ventriculomegaly of > 15 mm, one (11%) was normal ( p < 0.001), five (56%) had minor neurological morbidity requiring a ventriculoperitoneal shunt ( p = 0.035), and three (33%) had major neurological morbidity ( p = 0.045) when compared to cases of isolated ventriculomegaly in group 1. There was one case of CMV infection in group 2. All perinatal deaths in both groups were associated with other anomalies. Conclusions: Amniocentesis to determine karyotype and the presence of CMV is warranted for all cases of ventriculomegaly of > 10 mm. The degree of antenatal ventriculomegaly is related to pediatric neurological morbidity and, when it is > 15 mm, it is associated with an increase in abnormal neurological development.     

Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand

Nine cases of Kabuki syndrome have been identified in Auckland and surrounding regions in the North Island, New Zealand since 1995. All have the characteristic facial dysmorphism and many of the well-described associated anomalies. Some of the abnormalities were unusual including a case with severe congenital mitral stenosis, two cases of eventration of the diaphragm, idiopathic thrombocytopaenic purpura and vitiligo. One child had an Arnold Chiari type 1 malformation and another had epibulbar dermoids, neither of which has previously been reported in this syndrome. There was a wide diversity of ethnic origin, with the syndrome being described in patients from the Pacific Islands for the first time. The cases described emphasize the broad range of associated anomalies found in Kabuki syndrome and further illustrate its presence in all ethnic groups.     

The degree of antenatal ventriculomegaly is related to pediatric neurological morbidity

OBJECTIVE: Our hypothesis was that the degree of antenatally diagnosed cerebral ventriculomegaly is related to aneuploidy, perinatal mortality and long-term neurological morbidity. METHODS: Ninety-one cases of ventriculomegaly identified from 1 June 1994 to 1 July 1999 were examined for prenatal, intrapartum and neonatal complications. Pediatric follow-up was reviewed for infants with ventriculomegaly from birth up to as long as 4 years. Minor neurological morbidity was defined as a score of 70-80 on the clinical adaptive test/clinical linguistic and auditory milestone scale and included mild motor or language delay. Major morbidity included a score of < 70, evidence of cerebral palsy, or seizure disorder. The incidence of neurological complications was compared, on the basis of the degree of ventriculomegaly, with group 1 being > 10-15 mm and group 2 being > 15 mm. RESULTS: Twenty-seven cases (18 with neural tube defects and nine with holoprosencephaly) were excluded. Among the remaining 64 patients, 39 had a ventricular diameter of > 10-15 mm and comprised group 1. Five of the 39 cases (12.8%), all with other ultrasound anomalies, elected to terminate. The incidence of aneuploidy in group 1 was 14.2%. Among the 19 cases with isolated ventriculomegaly, 17 (89%) were normal and two (11%) had minor neurological morbidity. In group 1 there were two cases associated with cytomegalovirus (CMV) infection. Of the 25 cases in group 2, eight (32%), all with other ultrasound anomalies, elected to terminate. The incidence of aneuploidy in group 2 was 17.4%. For the nine cases with isolated ventriculomegaly of > 15 mm, one (11%) was normal (p < 0.001), five (56%) had minor neurological morbidity requiring a ventriculoperitoneal shunt (p = 0.035), and three (33%) had major neurological morbidity (p = 0.045) when compared to cases of isolated ventriculomegaly in group 1. There was one case of CMV infection in group 2. All perinatal deaths in both groups were associated with other anomalies. CONCLUSIONS: Amniocentesis to determine karyotype and the presence of CMV is warranted for all cases of ventriculomegaly of > 10 mm. The degree of antenatal ventriculomegaly is related to pediatric neurological morbidity and, when it is > 15 mm, it is associated with an increase in abnormal neurological development.