Linda Kleeman  Diana W. Bianchi  Lisa G. Shaffer  Emily Rorem  Janet Cowan  Sabrina D. Craigo  Hocine Tighiouart  Louise E. Wilkins-Haug 《黑龙江环境通报》2009,29(13):1213-1217

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Cathy Meaney  G. Norbury 《黑龙江环境通报》2009,29(13):1218-1221

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Jin Huang  Ying Lian  Jie Qiao  Yongjian Chen  Xiulian Ren  Ping Liu 《黑龙江环境通报》2009,29(12):1167-1170

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J. A. Talbot  K. Spencer  R. A. Abushoufa 《黑龙江环境通报》2003,23(1):1-5

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Siobhan M. Dolan  Alan L. Shanske  Robert W. Marion  Susan J. Gross 《黑龙江环境通报》2003,23(2):138-142

Initially described in 1972, Bartsocas–Papas syndrome (BPS) is an autosomal recessively inherited disorder combining multiple pterygia, ankyloblepharon, cleft lip and palate, filiform bands between the jaws, syndactyly, and other anomalies. Although described as lethal, review of the literature reveals three individuals who survived into childhood with this condition. We describe a fourth surviving patient and what we believe to be the first prenatal diagnosis of BPS in the first trimester. Copyright © 2003 John Wiley & Sons, Ltd.  相似文献   

    

Michael Christiansen  Severin Olesen Larsen 《黑龙江环境通报》2002,22(6):482-486

We assessed the discriminatory efficiency and cost-effectiveness of a novel way of organising first trimester screening for Down syndrome (DS), contingent testing, where a serological test (PAPP-A and β-hCG: the double test) is made in early first trimester and followed by nuchal translucency testing (NT) only in women with an intermediate risk, e.g. <1:65 and >1:1000, and not in all women as in normal first trimester screening (NFTS). Using Monte Carlo simulation contingent testing had a detection rate (DR) of 78.9% and a false-positive rate (FPR) of 4.0% for DS with 19.4% of women offered NT testing. The DR of NFTS was 85.5% and the FPR 4.4%. The decrease in NT screening was associated with an increase from 23% to 29% in the proportion of DS cases born. The cost of the contingent testing programme was £53 000 per DS case not born and £91 000 in NFTS. The number of aborted fetuses per DS case were 0.35 and 0.36, respectively. Thus, contingent testing is an organisation of first trimester screening where costs can be reduced with a marginal decrease in performance. Contingent testing is attractive in areas where NT screening is the bottleneck preventing the introduction of first trimester screening. Copyright © 2002 John Wiley & Sons, Ltd.  相似文献   

    

T. Van den Bosch  D. Van Schoubroeck  J. P. Fryns  G. Naulaers  A. M. Inion  K. Devriendt 《黑龙江环境通报》2002,22(5):415-417

This report describes the prenatal findings in monozygotic twins with Costello syndrome. At 16 weeks one twin had 9 mm of nuchal oedema: coarctation of the aorta was diagnosed after birth. At 22^5/7 weeks relative macrocephaly, mild pyelectasia and moderate polyhydramnios were noted in both twins. In the following 4 weeks the polyhydramnios increased significantly without visualisation of filling of the stomach. Between 27^5/7 and 30^2/7 weeks a total of 9 l amniotic fluid was drained and at 30^4/7 weeks prelabor premature rupture of membranes (PPROM) occurred followed by premature labor and delivery. The neonatal period was complicated by growth retardation, deglutition problems, hypotonia, cardiac and respiratory problems. Both twins died on Day 57 because of respiratory insufficiency. Copyright © 2002 John Wiley & Sons, Ltd.  相似文献   

    

M. H. Lee  S. Y. Park  Y. M. Kim  J. M. Kim  J. Y. Han  M. Y. Kim  H. M. Ryu 《黑龙江环境通报》2002,22(2):102-104

We report one case of a familial complex chromosomal rearrangement (CCR) involving four different chromosomes 5, 10, 16 and 18. The CCR was detected prenatally at 20 weeks' gestation because of advanced maternal age and history of recurrent miscarriages. Cytogenetic analysis of cultured amniotic fluid cells with GTG banding showed a 46,XX,t(5;16;10;18)(q13;q22;q11.2;q21) karyotype. Parental cytogenetic study revealed that the mother has the same CCR. RBG banding, high-resolution banding and fluorescence in situ hybridization (FISH) were used to characterize further and confirm the conventional banding data. No physical abnormalities were shown in the targeted fetal ultrasonography examination. The parents decided to continue the pregnancy. The child is now 2 years old and has neither congenital anomalies nor evidence of delayed psychomotor development. The fetal targeted ultrasound and FISH analysis helped us reassure fetal status. Copyright © 2002 John Wiley & Sons, Ltd.  相似文献   

    

B. Loeys  L. Nuytinck  P. Van Acker  S. Walraedt  M. Bonduelle  K. Sermon  B. Hamel  A. Sanchez  L. Messiaen  A. De Paepe 《黑龙江环境通报》2002,22(1):22-28

Marfan syndrome (MFS) is an autosomal dominant disorder with a prevalence of 2–3 per 10 000 individuals. Symptoms range from skeletal overgrowth, cutaneous striae to ectopia lentis and aortic dilatation leading to dissection. Prenatal diagnosis was until recently mainly performed in familial cases by linkage analysis. However, mutation detection has become available with thorough screening methods. The phenotypic variability observed in MFS makes reproductive options difficult, as molecular diagnosis cannot predict clinical severity of the disease. Data are presented on 15 prenatal and/or preimplantation genetic diagnoses (PGD) in nine families, originating from Belgium, the Netherlands, Spain and France. In four families data from linkage analysis were used, whereas in five other families the causative FBN1 mutation was characterised. Four PGD cycles in two couples led to one ongoing pregnancy. In addition, two amniocenteses and nine chorionic villus (CV) samplings were performed. In five pregnancies an affected fetus was diagnosed. In one of them, the couple chose to continue the pregnancy and an affected child was born, whereas the other four couples decided to terminate the pregnancy. It is expected that the greater availability of mutation testing of the FBN1 gene will increase requests for prenatal diagnosis. PGD appears to be an acceptable alternative for couples facing ethical reproductive dilemmas. Copyright © 2002 John Wiley & Sons, Ltd.  相似文献   

    

E.-G. G. Stefanou  G. Hanna  A. Foakes  M. Crocker  M. Fitchett 《黑龙江环境通报》2002,22(1):64-66

A case of prenatally detected cri du chat syndrome (5p-) is reported. Amniocentesis was performed following an abnormal ultrasound finding of isolated moderate bilateral ventriculomegaly. The karyotype showed a terminal deletion of the short arm of chromosome 5 including the critical region 5p15 for cri du chat syndrome. This was confirmed by fluorescence in situ hybridisation (FISH). Isolated mild ventriculomegaly may be a non-specific marker for cri du chat syndrome. Copyright © 2002 John Wiley & Sons, Ltd.  相似文献