Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?

abstract：:During one year, five second trimester fetuses with cystic hygromata and varying degrees of oedema presented to the authors from hospitals in the West of Scotland. Two fetuses had 45X karyotypes, one each had 47XY + 21 and 47XX + 18 karyotypes, and the fifth had a normal 46XY karyotype. Fetal oedema detectable by ultr...

journal_title：Prenatal diagnosis

authors： Redford DH,McNay MB,Ferguson-Smith ME,Jamieson ME

更新日期：1984-09-01 00:00:00

abstract：OBJECTIVE:The study aims to describe our two-dimensional (2D) ultrasound approach to visualize the fetal secondary palate and plot its growth curve and to describe and demonstrate its clinical implementation. METHODS:This is a two parts retrospective study. First, we measured the antero-posterior length of the bony se...

journal_title：Prenatal diagnosis

authors： Brusilov M,Wolman I,Ashwal E,Malinger G,Birnbaum R

更新日期：2018-12-01 00:00:00

abstract：:Twin pregnancy has a disproportionate effect on perinatal mortality, being six times higher than for singleton gestations. The major threats to perinatal survival are from two very different pathological processes: spontaneous preterm delivery, and the interlacing clinical complications of monochorionicity. With the r...

journal_title：Prenatal diagnosis

authors： Bajoria R,Kingdom J

更新日期：1997-12-01 00:00:00

abstract：OBJECTIVE:To determine how parents of children with intellectual disabilities view prenatal testing and pregnancy termination for their child's condition. METHOD:We interviewed 201 English-speaking or Spanish-speaking caregivers of children aged 2 to 10 years. Primary outcomes were being disinclined to undergo prenata...

journal_title：Prenatal diagnosis

authors： Kuppermann M,Nakagawa S,Cohen SR,Dominguez-Pareto I,Shaffer BL,Holloway SD

更新日期：2011-12-01 00:00:00

abstract：:Based on the presence of immature cells in fetal blood, and in an attempt to shorten the cytogenetic reporting time, three simultaneous one-day culture regimes were established in 23 fetal blood samples: (a) the standard phytohemagglutinin (PHA)-stimulated lymphocytes culture, (b) a culture using the granulocyte-macro...

journal_title：Prenatal diagnosis

authors： Costa D,Borrell A,Jou JM,Besón I,Soler A,Carrió A,Margarit E,Caballín R,Ballesta F,Fortuny A

更新日期：1999-01-01 00:00:00

abstract：:Comparative genomic hybridization (CGH) is a FISH-related technique used to assess global chromosomal aberrations in a variety of human tumours. Recently CGH has been applied to cytogenetic analysis of fresh frozen fetoplacental tissues. Here we report the application of CGH to paraffin-embedded placental samples. Ten...

journal_title：Prenatal diagnosis

authors： Ozcan T,Burki N,Parkash V,Huang X,Pejovic T,Mahoney MJ,Ward DC

更新日期：2000-01-01 00:00:00

abstract：:Few reports concerning intrauterine shunting are available. We investigated the impact of this method. In order to evaluate intrauterine shunting and the complication rate for different indications, we sent a questionnaire to all German-speaking level 3 centres. In four level 3 centres, 52 intrauterine catheters were ...

journal_title：Prenatal diagnosis

authors： Bernaschek G,Deutinger J,Hansmann M,Bald R,Holzgreve W,Bollmann R

更新日期：1994-09-01 00:00:00

abstract：:Ethmocephaly is a rare anomaly associated with partial failure of cleavage of the prosencephalon. Morphologically, it is closely related to cyclopia. We present an extremely rare case of ethmocephaly diagnosed in utero and caused by an unbalanced de novo translocation 18;21. ...

journal_title：Prenatal diagnosis

authors： Goldstein I,Weissman A,Brill-Zamir R,Laevsky I,Drugan A

更新日期：2003-10-01 00:00:00

abstract：OBJECTIVE:Ventriculomegaly (VM) is the most common brain anomaly in prenatal ultrasound (US) diagnosis. There is a general trend to perform fetal magnetic resonance imaging (MRI) when VM is severe (greater than 15 mm) and/or it is not isolated. The role of MRI is debated when VM is borderline (between 10 and 15 mm) and...

journal_title：Prenatal diagnosis

authors： Parazzini C,Righini A,Doneda C,Arrigoni F,Rustico M,Lanna M,Triulzi F

更新日期：2012-08-01 00:00:00

abstract：: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 o...

journal_title：Prenatal diagnosis

authors： Vora N,Bianchi DW

更新日期：2009-10-01 00:00:00

abstract：:Current debates about sex selection start from a paradox: on the one hand, the 'liberal' argument in favour of sex selection is often thought to be sound; but on the other hand there is widespread public opposition to sex selection. So it is worth spending some time examining the arguments against sex selection. Four ...

journal_title：Prenatal diagnosis

authors： Baldwin T

更新日期：2006-07-01 00:00:00

abstract：:A case of 46,XX/47,XXY mosaicism was diagnosed at 22 gestational weeks by amniocentesis and fetal blood sampling. After genetic counselling, the couple elected to have the pregnancy terminated. Culture of the fetal skin and both gonads confirmed the prenatal diagnosis. In external appearance, the abortus had no remark...

journal_title：Prenatal diagnosis

authors： Cheng WF,Huang SC,Ko TM

更新日期：1995-01-01 00:00:00

abstract：OBJECTIVES:To assess the factors associated with utilization of genetic counseling services among pregnant Israeli Arab women. METHODS:A case-control study was conducted among 414 pregnant Arab women who were referred by a family physician or a perinatologist to genetic counseling services between 2008 and 2011. Data ...

journal_title：Prenatal diagnosis

authors： Sharkia R,Tarabeia J,Zalan A,Atamany E,Athamna M,Allon-Shalev S

更新日期：2015-04-01 00:00:00

abstract：:We report the first prenatal diagnosis of an affected fetus with Chediak-Higashi syndrome (CHS). Diagnosis was accomplished via fetal blood sampling at 17 menstrual weeks and was confirmed after birth. Retrospective measurement of the largest acid phosphatase-positive lysosomes in cultured amniotic fluid cells and cho...

journal_title：Prenatal diagnosis

authors： Diukman R,Tanigawara S,Cowan MJ,Golbus MS

更新日期：1992-11-01 00:00:00

abstract：OBJECTIVE:Accounting for possible recombinations in developing an accurate preimplantation genetic diagnosis (PGD) protocol based on familial haplotypes. METHODS:Haplotypes were constructed from genomic DNA in a family where the male was affected with tuberous sclerosis complex (TSC). Embryos were biopsied at day 3, a...

journal_title：Prenatal diagnosis

authors： Altarescu G,Eldar Geva T,Brooks B,Margalioth E,Levy-Lahad E,Renbaum P

更新日期：2008-10-01 00:00:00

abstract：OBJECTIVE:N-Acetyltransferase 2 (NAT2) is a phase II xenobiotic-metabolizing enzyme participating in the detoxification of toxic arylamines and aromatic amines. The present study was designed to investigate whether maternal NAT2 genetic polymorphisms are associated with fetal susceptibility to congenital heart diseases...

journal_title：Prenatal diagnosis

authors： Tao J,Li N,Liu Z,Qiu J,Deng Y,Li X,Chen M,Yu J,Zhu J,Yu P,Wang Y

更新日期：2019-10-01 00:00:00

abstract：:Two pregnancies at risk for the carbohydrate-deficient glycoprotein syndrome Type 1A (CDG1A, phosphomannomutase deficient) were monitored by enzyme and genetic linkage analyses. The index case in both families had a proven deficiency of phosphomannomutase (PMM). An unaffected fetus was predicted in family 1 following ...

journal_title：Prenatal diagnosis

authors： Charlwood J,Clayton P,Keir G,Mian N,Young E,Winchester B

更新日期：1998-07-01 00:00:00

abstract：OBJECTIVE:To evaluate the utility of determining the presence/absence of nasal bone in a low-risk fetal population. METHODS:Prospective study of the presence/absence of nasal bone among 1800 consecutive unselected fetuses, with complete follow-up of results. RESULTS:An adequate sonographic evaluation of nasal bone wa...

journal_title：Prenatal diagnosis

authors： Ramos-Corpas D,Santiago JC,Montoya F

更新日期：2006-02-01 00:00:00

abstract：:Cytogenetic microarray analysis (CMA) in prenatal testing detects chromosome abnormalities and new genetic syndromes that would be missed by conventional cytogenetics and has the potential to significantly enhance prenatal genetic evaluation. A large Eunice Kennedy Shriver National Institute Of Child Health and Human ...

journal_title：Prenatal diagnosis

authors： Wapner RJ,Driscoll DA,Simpson JL

更新日期：2012-04-01 00:00:00

abstract：:We report cytogenetic results from a randomized Danish chorionic villus sampling (CVS) and amniocentesis (AC) study including 2928 placental and 1075 amniotic fluid specimens processed in the same laboratory. The results are presented in groups comparing CVS with amniocentesis and transabdominal (TA) CVS with transcer...

journal_title：Prenatal diagnosis

authors： Smidt-Jensen S,Lind AM,Permin M,Zachary JM,Lundsteen C,Philip J

更新日期：1993-08-01 00:00:00

abstract：OBJECTIVE:An imbalance between angiogenic and antiangiogenic factors has been implicated in the pathogenesis and severity of preeclampsia. In this study, we evaluated serum levels of an angiogenic factor and an antiangiogenic factor - placental growth factor (PlGF) and soluble fms-like tyrosine kinase 1 (sFlt-1), respe...

journal_title：Prenatal diagnosis

authors： Pinheiro CC,Rayol P,Gozzani L,Reis LM,Zampieri G,Dias CB,Woronik V

更新日期：2014-11-01 00:00:00

abstract：OBJECTIVE:To explore the genetic aetiology of fetal posterior fossa abnormalities (PFAs). METHODS:This study involved cases of PFAs that were identified by prenatal ultrasonographic screening and confirmed postnatally between January 2012 and January 2016. Conventional cytogenetic analyses and chromosomal microarray a...

journal_title：Prenatal diagnosis

authors： Lei T,Feng JL,Xie YJ,Xie HN,Zheng J,Lin MF

更新日期：2017-11-01 00:00:00

abstract：:Fetal and neonatal alloimmune thrombocytopenia (FNAIT) is a potentially devastating condition, which may lead to intracranial haemorrhage (ICH) in the fetus or neonate, often with death or major neurological damage as consequence. In the absence of screening, preventive measures are only possible in the next pregnancy...

journal_title：Prenatal diagnosis

authors： Kamphuis MM,Oepkes D

更新日期：2011-07-01 00:00:00

abstract：OBJECTIVES:The sickle gene is prevalent in the scheduled caste and tribal populations in India. The clinical presentation of sickle cell disease is extremely variable, and there are no neonatal screening programmes. This is the first report on prenatal diagnosis of sickle syndromes in 85 couples at risk (sickle cell an...

journal_title：Prenatal diagnosis

authors： Colah R,Surve R,Nadkarni A,Gorakshakar A,Phanasgaonkar S,Satoskar P,Mohanty D

更新日期：2005-05-01 00:00:00

abstract：:Prenatal diagnosis of cord defects by means of ultrasound examination is possible and highly accurate. Although this is a rare pathological finding, we report two cases in which umbilical cord pseudocysts were associated with trisomy 18. These observations underscore the need of umbilical blood sampling for establishi...

journal_title：Prenatal diagnosis

authors： Jauniaux E,Donner C,Thomas C,Francotte J,Rodesch F,Avni FE

更新日期：1988-10-01 00:00:00

abstract：:Right pulmonary agenesis is a rare congenital malformation which results in secondary dextrocardia in situs solitus. Ipsilateral microtia in this context composes a laterality syndrome. The prenatal sonographic findings of this abnormality have not been previously reported. We describe the association of dextrocardia ...

journal_title：Prenatal diagnosis

authors： Maymon R,Schneider D,Hegesh J,Herman A,Weinraub Z,Achiron R

更新日期：2001-02-01 00:00:00

abstract：OBJECTIVE:The discovery of placental transcripts in peripheral blood of pregnant women prompted us to investigate which was the most appropriate biological specimen, between plasma and serum, to easily detect them and to exploit hPL (human placental lactogen), betahCG (human chorionic gonadotrophin beta-subunit), LOC90...

journal_title：Prenatal diagnosis

authors： Picchiassi E,Coata G,Centra M,Pennacchi L,Bini V,Di Renzo GC

更新日期：2010-08-01 00:00:00

abstract：:A number of different models of CF carrier screening have now been tested in pilot trials. Apart from opportunistic and cascade testing (which are strictly speaking not true forms of screening), the major programmes have been directed either to young adults in primary care or to pregnant women in antenatal clinics. On...

journal_title：Prenatal diagnosis

authors： Brock DJ

更新日期：1994-12-01 00:00:00

abstract：OBJECTIVE:To assess the value of biomagnetic recordings of the umbilical artery over Doppler ultrasound screening in order to predict complications of impaired uteroplacental blood flow in fetuses with intrauterine growth restriction (IUGR). METHODS:Our study population included 11 IUGR preeclamptic (34-37-weeks gesta...

journal_title：Prenatal diagnosis

authors： Kotini A,Avgidou K,Koutlaki N,Sigalas J,Anninos P,Anastasiadis P

更新日期：2003-04-01 00:00:00

abstract：:A lethal form of bone dysplasia, platylospondylic lethal chondrodysplasia, was diagnosed prenatally using three-dimensional ultrasound. The various types of three-dimensional imaging mode provided diagnostic details not available by conventional two-dimensional ultrasound. The diagnosis was made after referral in the ...

journal_title：Prenatal diagnosis

authors： Steiner H,Spitzer D,Weiss-Wichert PH,Graf AH,Staudach A

更新日期：1995-04-01 00:00:00