Recurrent congenital chylothorax.

Congenital chylothorax is an uncommon but well-described condition. Recurrent congenital chylothorax is extremely rare. Yancy and Spock (1967) reviewed 31 reported cases of spontaneous chylothorax which occurred in the first 2 months of life and noted that male infants were affected twice as commonly as females. Two other cases of recurrent congenital chylothorax in male offspring (Defoort and Thiery, 1978; Reece et al., 1987) led to the suggestion of possible X-linked recessive inheritance. We describe a case of recurrent congenital chylothorax in which two consecutive female infants in a sibship were affected. The underlying cause of this disorder remains unknown. Inheritance as an X-linked recessive is not possible and this case is suggestive of autosomal recessive inheritance. The case also serves to emphasize the need for caution in counselling for recurrence risks when the underlying aetiology of the disorder is unknown.     

Pregnancy and complicated familial Mediterranean fever

Familial Mediterranean Fever (FMF) is an inherited disease, closely following the pattern of autosomal recessive inheritance. Amyloidosis is the most severe complication of the disease. The prevalence of pregnancy loss in women with FMF is considered to be high. There is no information to support the possibility of increase risk of late pregnancy complications or change in the natural course of the disease. Two cases are presented with complicated FMF. One case with proved amyloidosis and the second patient with ascites. Pregnancy and neonatal outcome were uneventful in both. No further deterioration in the systemic disease occurred.     

Periconceptional clinics: a medical health care infrastructure of new genetics

The necessary paradigm shift of medical prevention and health promotion from general prevention to specific genetic-oriented prevention require two crucial points: the selection of the optimal time for the primary prevention of birth defects and predictive genetic testing and the establishment of the appropriate healthcare infrastructure. The optimal time for the primary prevention of birth defects (e.g. neural-tube defects) and predictive genetic testing is the preconceptional period, i.e. the preparatory time for the planned conception, particularly before the first pregnancy, and the most acceptable time for the concrete diagnosis of the expected serious genetic diseases is the early postconceptional period. Theoretically, preimplantation genetic diagnosis is the optimal option for offspring of couples at high risk including autosomal and X-linked recessive, dominant disorders and chromosomal aberrations. The pre- and early postconceptional health can be addressed jointly in a new type of the health care infrastructure entitled periconceptional clinic. Periconceptional clinics seem to be appropriate for the starting point for the primary prevention of common complex diseases as well.     

Substances psychoactives pendant la grossesse ; quels effets chez l’enfant ?

Drug addiction during pregnancy increases the risk of perinatal and pediatric diseases (prematurity, intrauterine growth retardation, mother-infant bonding difficulties, and developmental defects). Precocious obstetrical and addictologic care can reduce these risks. Perinatal and pediatric prognosis are related to the type and number of drugs but also to the medico-psychosocial context. Polydrug use, maternal psychiatric pathologies, and chaotic life style are risk factors resulting in poor outcome. Severity of neonatal abstinence syndrome increases with opiates use, mainly in combination with benzodiazepines and polydrug use, but can be reduced by nursing care by the mother in postnatal ward.     

Fetal therapy: practical ethical considerations

Progress in prenatal diagnosis can lead to the diagnosis of severe fetal abnormalities for which natural history anticipates a fatal outcome or the development of severe disability despite optimal postnatal care. Intrauterine therapy can be offered in these selected cases. Prenatal diagnosis is the only field of medicine in which termination is an option in the management of severe diseases. Fetal therapy has therefore developed as an alternative to fatalist expectant prenatal management as well as to termination of pregnancy (TOP). There are few standards of fetal care that have gone beyond the stage of equipoise and even fewer have been established based on appropriate studies comparing pre- and postnatal care. Several ethical questions are being raised as fetal surgery develops, including basic Hippocratic principles of patients' autonomy and doctors' duty of competence moving the boundaries between experimental surgery, therapeutic innovation and standard care. In addition, the technical success of a fetal intervention can only rarely fully predict the postnatal outcome. Managing uncertainty regarding long-term morbidity and the possibility for fetal therapy to change the risk of perinatal death into that of severe handicap remains a critical factor affecting women's choice for TOP as an alternative to fetal therapy.     

Two brothers with severe developmental delay, growth retardation and unusual appearance

We report on two brothers with short stature, severe developmental delay and unusual appearance. Several conditions including the Russell-Silver, Dubowitz, Floating-Harbour and Cockayne syndromes were considered in the differential diagnosis, but subsequently rejected. These two cases are likely to represent a new autosomal recessive or X-linked recessive syndrome.     

Adams-Oliver syndrome: further evidence of an autosomal recessive variant

Adams-Oliver syndrome is characterized by aplasia cutis congenita and variable degrees of terminal transverse limb defects. Other associated anomalies were described in the syndrome. Most described cases follow an autosomal dominant pattern of inheritance. Sporadic and autosomal recessive cases, however, were reported. In this study, we report on three Egyptian patients with Adams-Oliver syndrome from three different families. The parents were normal and consanguineous in all three families. There was history of similarly affected sibs for two cases. These findings denote autosomal recessive inheritance. The reported cases had typical skull and limb anomalies with cutis marmorata telangiectatica congenita. We observed additional rare manifestations in the form of microcephaly, psychomotor retardation, epilepsy, eye anomalies and atrophic skin lesions. MRI of the brain in one of the studied cases revealed retrocerebellar cyst and mild asymmetrical cerebellar hypoplasia, which to our knowledge, were not previously reported in Adams-Oliver syndrome. The results of this study provide further evidence of clinical and genetic heterogeneity and support the presence of autosomal recessive variant of Adams-Oliver syndrome.     

Transposition of external genitalia and associated malformations

We report three Egyptian boys from three different families born with penoscrotal transposition (PST). None of them fell into categories of known syndromes, associations, sequences or chromosome disorders. Other malformations observed included renal, genital, cardiovascular and limb defects. Although the occurrence of most reported cases of PST are sporadic, three families with affected sibs have been reported in the literature where parental consanguinity was not specified. Parental consanguinity is present in two of our three cases with young parental age suggesting the possibility of an autosomal recessive pattern of inheritance. A history of maternal hormonal treatment early in pregnancy in one of our cases may suggest a role of teratogenic agents. We conclude that PST may represent only a part of a wide spectrum of anomalies resulting from a major insult occurring during early embryonic development and is of heterogeneous etiology.     

The KBG syndrome

We report on two boys with a combination of short stature, a broad face, macrodontia and developmental delay. These features suggest that they have the KBG syndrome, a rare but distinctive phenotype. The pattern of inheritance remains uncertain and both autosomal dominant and X-linked recessive inheritance should be considered in genetic counselling.     

妊娠合并系统性红斑狼疮患者孕期并发症及妊娠结局的临床分析

目的分析并探讨系统性红斑狼疮(SLE)患者的孕期并发症情况及妊娠结局。方法回顾性分析2000年1月至2010年3月北京大学人民医院收治的19例妊娠合并SLE患者的临床资料,对影响SLE合并妊娠并发症的相关因素和SLE不同妊娠时机的妊娠结局进行分析。结果 19例患者中11例(11/19,57.9%)出现了母儿并发症,4例重度子痫前期,1例流产,2例死胎,2例足月低出生体重,4例早产。无并发症组8例,两组患者的孕产次及孕前病程、分娩方式无明显差异,但无并发症组患者的年龄小于并发症组,分娩孕周明显延长,新生儿体重明显增加,两组差异有统计学意义(P=0.006);孕前病情的稳定程度对孕期母儿并发症的影响差异无统计学意义(P=0.633);但妊娠前病情稳定大于6个月的患者出现并发症的比例较低(6/12,50.0%vs5/7,71.4%)。3例妊娠期间诊断SLE的患者均在孕期或产后出现了严重的并发症,1例(1/3,33.3%)新生儿诊断为SLE;与孕前病情控制平稳6个月的患者相比,分娩孕周较小,新生儿体重较低(P0.05)。结论 SLE患者即使孕前病情控制平稳,妊娠后仍有可能出现严重的母儿并发症。在病情控制平稳后妊娠,孕期在产科和风湿科医师的共同严密监测下,坚持治疗,适时终止妊娠是改善母婴结局的关键。同时应注意提高对妊娠期SLE的诊断。     

Autosomal recessive hydrocephalus due to congenital stenosis of the aqueduct of sylvius

Isolated hydrocephalus due to congenital stenosis of the aqueduct of Sylvius is almost always an X-linked recessive inherited condition. We describe a brother and sister with isolated hydrocephalus from congenital aqueductal stenosis. We believe that these two occurrences represent a rare autosomal recessive form of this abnormality. In assessing a first known occurrence of hydrocephalus with stenosis of the aqueduct of Sylvius in a family, the rare possibility of autosomal inheritance must be considered in genetic counselling.     

A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosis

The presence of maternal cells in fetal samples constitutes a serious potential source for prenatal misdiagnosis. Here we present our approach for detecting maternal cell contamination (MCC) at prenatal diagnosis for eight monogenic disorders (autosomal recessive: beta-thalassaemia, sickle-cell anaemia, cystic fibrosis, prelingual deafness; autosomal dominant: achondroplasia, Huntington disease, myotonic dystrophy, neurofibromatosis type I; X-linked: spinobulbar muscular atrophy). Our aim was to apply a simple and low-cost approach, which would easily and accurately provide information on the fetal tissue MCC status. MCC testing was applied to cases of recessive inheritance where the primary mutation screening of the fetus revealed the presence of the maternal mutation, to cases concerning dominant inheritance and to cases of multiple gestation. The potential presence of maternal cells was determined by the amplification of the 3'-HVR/APO B, D1S80, THO1 and VNTRI of vWf polymorphic loci, which have previously demonstrated high heterozygosity in Caucasians. Among 135 prenatal diagnoses, 44 finally needed to be tested for MCC (32.6%). MCC was detected in four cases, where DNA was isolated directly from chorionic villi samples (CVS), and in one case with DNA isolated directly from amniotic fluid (AF). In almost 90% of cases a simple test of one polymorphic locus provided sufficient information about MCC. The choice of the appropriate locus is therefore essential, while the simultaneous screening of both parents provides the means for distinguishing non-informative sites about MCC.     

产科危重症合并多系统器官功能障碍综合征与母婴结局

目的 :探讨产科危重症合并多系统器官功能障碍综合征 (MODS)与母婴结局的关系 ,以提高产科危重症合并MODS的救治水平。方法 :对 4 8例产科危重症按 1995年重修MODS疾病评分标准进行诊断分析 ,并行多学科综合监护和救治。结果 :4 8例产科危重症 ,产妇死亡 12例 (2 5 .0 % ) ,围生儿死亡 14例 (2 9.17% ) ,母、婴病死率随脏器衰竭数目的增加而增加 (P <0 .0 0 5 ,P <0 .0 5 ) ,与终止妊娠的方式无关 ;围生儿死亡与终止妊娠的时机有关 ,孕周越小病死率越高(P <0 .0 0 5 )。结论 :产科危重症合并MODS的母婴死亡率高 ,抢救难度大 ,采用MODS评分进行产科危重症监护 ,结合产科处理与多学科综合救治方法 ,有利于提高临床监护效果 ,从而提高抢救成功率     

Syndrome of camptodactyly, ankyloses, facial anomalies, and pulmonary hypoplasia (Pena-Shokeir syndrome): obstetric and ultrasound aspects

Two siblings with Pena-Shokeir syndrome are described. This syndrome consists of polyhydramnios, intrauterine growth retardation, short umbilical cord, perinatal death, facial abnormalities, limb abnormalities including arthrogryposis, and lethal pulmonary hypoplasia. The mode of inheritance is most likely autosomal recessive. Prenatal diagnosis was made in the second pregnancy with ultrasound performed at 26 weeks' gestation. The roles of fetal akinesia and fetal apnea in the production of the various manifestations of the syndrome are detailed, and the possibility of early prenatal diagnosis is considered.     

Disgenesia tubular renal. Una causa infrecuente de oligoamnios

Renal tubular dysgenesis is acquired during fetal development or through autosomal recessive inheritance. Histologically, this entity is a severe disorder affecting renal tubular development. Clinically, renal tubular dysgenesis is characterized by persistent fetal anuria and perinatal demise, probably due to pulmonary hypoplasia and Potter sequence. We report the case of a female neonate who died a few hours after birth from renal and respiratory failure. Post-mortem examination identified renal tubular dysgenesis.     

Prevención de la hemorragia posparto en una gestante afectada de síndrome de Hermansky-Pudlack

Hermansky-Pudlak syndrome is a multisystemic disease with autosomal recessive inheritance, mainly characterized by oculo-cutaneous albinism and impaired platelet aggregation. We describe the follow–up and end of pregnancy in a 30-year-old woman with this syndrome, as well as the measures carried out during labor to avoid bleeding complications due to platelet dysfunction. The pregnancy ended at 38.2 weeks through vaginal delivery, without epidural anesthesia and good maternal and fetal outcome.     

Prenatal diagnosis of recurrent Larsen syndrome: further definition of a lethal variant.

Larsen syndrome is characterized by multiple congenital joint dislocations and flattened facies. Some cases have been familial, with both autosomal dominant and recessive patterns of inheritance. Reports of a form of Larsen syndrome, lethal in the neonatal period, are reviewed. We present a family in which recurrence of the syndrome was diagnosed prenatally, but a lethal outcome again resulted despite preparation for anticipated perinatal complications. Because of the wide clinical variation and the lack of a known metabolic defect, delineation between the various forms of Larsen syndrome is difficult. While the lethal variant appears to be a combination of the Larsen phenotype and pulmonary hypoplasia, other features noted in the lethal cases, such as abnormal palmar creases and laryngotracheomalacia, are also seen in patients with Larsen syndrome who survive.     

Chronic hypertension in pregnancy

Hypertension is the most common medical disorder during pregnancy. Chronic hypertension is a serious medical complication in pregnancy with increased maternal and perinatal morbidity and mortality. Those who develop uncontrolled severe hypertension, those with target organ damage, and those who are poorly compliant with prenatal visits are at high risk for poor perinatal outcome. Maternal complications include abruptio placenta, stroke, and superimposed pre-eclampsia. Fetal complications include prematurity, low birth weight, and perinatal death. Careful antepartum, intrapartum and postpartum management of women with high-risk chronic hypertension in pregnancies may reduce morbidity and mortality.     

Medical disorders in pregnancy, including hypertensive diseases

Medical disorders, including hypertensive diseases, may exist prior to pregnancy (eg, connective tissue diseases, chronic hypertension, thyroid disease) or may manifest themselves for the first time during pregnancy (eg, gestational diabetes, gestational hypertension). The outcome for a particular pregnancy will depend on the nature of the disease, the severity of the disease process at onset of pregnancy, and the quality of obstetric and medical management used. Management of pregnancies with preexisting medical disorders should begin before conception. These women should be evaluated to determine the severity of the disorder and to establish the presence of possible target organ damage. In addition, they should be counseled regarding the potential adverse effects of the disease on pregnancy outcome and the effects of pregnancy on their disease. These women should be instructed regarding the importance of early onset of prenatal care and compliance with frequent prenatal visits.     

Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption

We describe a son of consanguineous parents with congenital scalp defects, transverse limb abnormalities, hypoplasia of the corpus callosum and bilateral falciform retinal folds. Aplasia cutis congenita with transverse limb defects are features of Adams-Oliver syndrome, which is usually inherited as an autosomal dominant condition. The association of bilateral retinal folds and brain abnormalities with scalp defects and terminal limb defects has only once been previously described. It is possible that these cases represent a severe variant of Adams-Oliver syndrome. We, however, suggest that they may characterize a new, distinct, autosomal recessive syndrome, involving vascular disruption.