Genetic considerations in the prenatal diagnosis of overgrowth syndromes

Large (>90%) for gestational age (LGA) fetuses are usually identified incidentally. Detection of the LGA fetus should first prompt the provider to rule out incorrect dates and maternal diabetes. Once this is done, consideration should be given to certain overgrowth syndromes, especially if anomalies are present. The overgrowth syndromes have significant clinical and molecular overlap, and are associated with developmental delay, tumors, and other anomalies. Although genetic causes of overgrowth are considered postnatally, they are infrequently diagnosed prenatally. Here, we review prenatal sonographic findings in fetal overgrowth syndromes, including Pallister-Killian, Beckwith-Wiedemann, Sotos, Perlman, and Simpson-Golabi-Behmel. We also discuss prenatal diagnosis options and recurrence risks. Copyright © 2009 John Wiley & Sons, Ltd.     

好氧颗粒污泥中丝状微生物生长研究

通过在序批式摇床反应器(SSBR)中分别接种絮状活性污泥与厌氧颗粒污泥来处理含盐及淡水2种废水并培养好氧颗粒污泥,研究好氧颗粒污泥中丝状微生物的过度生长及可行的控制措施.结果表明,进水水质与接种污泥类型都会影响颗粒污泥中丝状微生物的生长.同是接种好氧絮状污泥的R1、R3,由于R1进水为含盐废水而R3为淡水,R1中颗粒污泥丝状化程度低于R3,而接种厌氧颗粒污泥并处理含盐废水的R2颗粒污泥丝状化程度最低.当好氧颗粒污泥外部出现明显丝状微生物过度生长时,各反应器中颗粒污泥平均丝状化程度△分别达到△R1=1.4、△R2=1.2及△R3=2.0.对各反应器颗粒污泥中丝状微生物进行鉴定,R1颗粒中丝状微生物主要为Eikelboom 0092及Nocardia spp.,R2中主要为.Fungi spp.及Nocardia spp.,R3中主要为S.natans 及H.hydrossis,这几种类型丝状微生物一般出现在污泥龄长、溶解氧浓度低及基质易降解的环境中,但由于好氧颗粒污泥结构不同于传统活性污泥,试验通过控制污泥负荷、污泥龄及曝气量等并不能有效控制颗粒中丝状微生物的过度生长.试验将各反应器进水基质由易降解的葡萄糖配水换为难生物降解废水时,能快速有效地控制颗粒污泥中丝状微生物的过度生长.     

Prenatal diagnosis of the Klippel-Trenaunay-Weber syndrome

The Klippel-Trenaunay-Weber syndrome is a complex developmental disorder of the vascular and skeletal systems. While many features of the syndrome are congenital, it has not been diagnosed often before birth. This paper describes a case of Klippel-Trenaunay-Weber syndrome diagnosed at 19 weeks' gestation on the basis of sonographic findings and family history. The clinical variability of the syndrome is emphasized and the importance of family history in differential diagnosis is stressed.     

Prenatal findings on ultrasound and X-ray in a case of overgrowth syndrome associated with increased nuchal translucency

A case of prenatal diagnosis of an overgrowth syndrome at 30 weeks of gestation is reported. The diagnosis was suggested on the basis of increased fetal growth from 16 weeks onwards, advanced bone age, and characteristic facial features such as hypertelorism, broad forehead and small chin. The fetus presented at 12 weeks with a markedly increased nuchal translucency thickness and generalized skin edema, but normal karyotype. Serial ultrasound scans revealed brain abnormalities including mild unilateral ventriculomegaly and a cyst in the cavum septi pellucidi. The pregnancy was terminated at the parents' request at 32 weeks of gestation and postmortem examination confirmed the prenatal findings. This case demonstrates the possibility of prenatal diagnosis of early overgrowth syndromes and highlights the dilemma arising from the prenatal diagnosis of a non-lethal condition associated with an uncertain prognosis and poorly documented in utero. Copyright © 2001 John Wiley & Sons, Ltd.     

Simpson—Golabi—Behmel syndrome: Disproportionate fetal overgrowth and elevated maternal serum alpha-fetoprotein

Simpson—Golabi—Behmel (SGB) syndrome is an X-linked condition with pre- and postnatal overgrowth, characteristic facies, and visceral and skeletal anomalies. We report an affected male who presented at 16 weeks' gestation with elevated maternal serum α-fetoprotein (MSAFP). Fetal measurements at 20 and 31 weeks' gestation were disproportionate, with marked macrosomia but a low head to abdominal circumference ratio and normal femur length. Fetal overgrowth with elevated MSAFP may prove to be useful markers for the prenatal diagnosis of SGB syndrome.     

Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene

Overgrowth is rarely associated with chromosomal imbalances. Here, we report on a male foetus presenting with overgrowth and additional material on the short arm of one of the chromosome 15 in 12% of lymphocytes and 50% of amniotic cells. Parents' karyotypes were normal, indicating a de novo origin for this unbalanced rearrangement. Complementary studies using cytogenetic and FISH studies showed that this additional material resulted in a 15q25-qter trisomy and confirmed the presence of three copies of the insulin-like growth factor 1 receptor (IGF1R) gene, included in the trisomic region. Autopsy performed after termination of pregnancy revealed isolated overgrowth and absence of visceral malformations. The possible mechanisms and origins for the formation of this mosaic pure trisomy are complex. The present observation emphasises the hypothesis that the overgrowth phenotype, frequently reported in patients with trisomy including the 15q26 region, might be causally related to a dosage effect of the IGF1R gene, as well as the importance of chromosome analysis in patients with overgrowth. It also confirms that the overgrowth is of prenatal onset in those observations. Copyright © 2004 John Wiley & Sons, Ltd.