Nuchal translucency measurement at different crown-rump lengths along the 10- to 14-week period for Down syndrome screening.

abstract：OBJECTIVE:This study aimed to examine the role of the 11- to 14-week ultrasound in women with negative cell-free DNA screening. METHODS:A retrospective cohort study of women at increased risk for aneuploidy based on age or medical history and negative cell-free DNA screening between March 2012 and March 2014 was condu...

journal_title：Prenatal diagnosis

authors： Reiff ES,Little SE,Dobson L,Wilkins-Haug L,Bromley B

更新日期：2016-03-01 00:00:00

abstract：:A child was tentatively diagnosed as having cystic fibrosis, based on neonatal presentation with severe gastrointestinal complications; the diagnosis was not confirmed biochemically and no tissues were available for DNA analysis. The mother presented in her subsequent pregnancy, and microvillar enzyme analysis of cell...

journal_title：Prenatal diagnosis

authors： Carey WF,Nelson PV,Raymond S,Morris CP

更新日期：1990-09-01 00:00:00

abstract：:Prenatal diagnosis of Duchenne and Becker muscular dystrophy is performed as a routine procedure in many laboratories around the world, using numerous molecular genetic techniques. Rather than discussing methods that are commonly in use, this review concentrates on some of the methods that are less widely available. T...

journal_title：Prenatal diagnosis

authors： Abbs S

更新日期：1996-12-01 00:00:00

abstract：OBJECTIVES:Fetal aortic valvuloplasty (FAV) for severe aortic stenosis (AS) has shown promise in averting progression to hypoplastic left heart syndrome. After FAV, predicting which fetuses will achieve a biventricular (BiV) circulation after birth remains challenging. Identifying predictors of postnatal circulation on...

journal_title：Prenatal diagnosis

authors： Beattie MJ,Friedman KG,Sleeper LA,Lu M,Drogosz M,Callahan R,Marshall AC,Prosnitz AR,Lafranchi T,Benson CB,Wilkins-Haug LE,Tworetzky W

更新日期：2021-01-18 00:00:00

abstract：:Maternal serum CA 125 levels were determined at 9-11 menstrual weeks for 26 cases of trisomy 13 (n = 4), trisomy 18 (n = 7), trisomy 21 (n = 15), and appropriate controls. There were no statistically significant differences between groups. ...

journal_title：Prenatal diagnosis

authors： Norton ME,Golbus MS

更新日期：1992-09-01 00:00:00

abstract：:An excess of structural anomalies is observed in twins compared to singletons. Approximately 1-2% of twin pregnancies may face the dilemma of expectant management versus selective termination following diagnosis of an anomaly affecting only one fetus. If the option of selective fetocide is considered, the main variabl...

journal_title：Prenatal diagnosis

authors： Rustico MA,Baietti MG,Coviello D,Orlandi E,Nicolini U

更新日期：2005-09-01 00:00:00

abstract：:Amniotic fluid samples received for routine prenatal diagnosis of open neural tube defects were used for a study to compare amniotic fluid acetylcholinesterase (AChE) determination using a monoclonal antibody (4F19) enzyme antigen immunoassay and amniotic fluid alpha-fetoprotein (AFP) measurement as diagnostic tests f...

journal_title：Prenatal diagnosis

authors： Loft AG,Høgdall E,Larsen SO,Nørgaard-Pedersen B

更新日期：1993-02-01 00:00:00

abstract：:A cytogenetic survey and follow-up studies were made of 14 cases with supernumerary marker chromosomes, identified among 12,699 prenatal samples, investigated at our institution over a 10-year period from 1980 to 1990. FISH (fluorescence in situ hybridization) techniques were employed to identify the chromosomal origi...

journal_title：Prenatal diagnosis

authors： Brøndum-Nielsen K,Mikkelsen M

更新日期：1995-07-01 00:00:00

abstract：BACKGROUND:Ultrasound examination performed on a 32-year old woman at 30 weeks' gestation showed the presence of fetal malformations. Amniocentesis was performed. METHODS AND RESULTS:Cytogenetic analysis of cultured amniocytes revealed an interstitial deletion of the long arm of chromosome 5. Molecular studies confirm...

journal_title：Prenatal diagnosis

authors： Malan V,Martinovic J,Sanlaville D,Caillat S,Waill MC,Ganne ML,Tantau J,Attie-Bitach T,Vekemans M,Morichon-Delvallez N

更新日期：2006-03-01 00:00:00

abstract：:We report the first molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency. The proband had a classic but severe presentation with hypoketotic hypoglycaemia and acidosis, secondary mental retardation, and epilepsy, and HL deficiency was documented in cultured fibroblasts. We found him to ...

journal_title：Prenatal diagnosis

authors： Mitchell GA,Jakobs C,Gibson KM,Robert MF,Burlina A,Dionisi-Vici C,Dallaire L

更新日期：1995-08-01 00:00:00

abstract：:Prenatal diagnosis of Sandhoff disease (infantile onset) at 16 weeks gestation has been made by detection and analysis of N-acetylglucosaminyl-oligosaccharides in amniotic fluid using high performance liquid chromatography. The elution profile for the branched chain oligosaccharides was identical with that obtained wi...

journal_title：Prenatal diagnosis

authors： Warner TG,Turner MW,Toone JR,Applegarth D

更新日期：1986-11-01 00:00:00

abstract：OBJECTIVES:Prenatal diagnosis by ultrasound of fetal polymicrogyria has been reported only once. METHODS:We describe an additional case of polymicrogyria in a fetus from a monozygotic twin pair, probably the consequence of twin-to-twin transfusion syndrome. RESULTS:On ultrasound, there were bilateral cortical hyperec...

journal_title：Prenatal diagnosis

authors： Delle Urban LA,Righini A,Rustico M,Triulzi F,Nicolini U

更新日期：2004-10-01 00:00:00

abstract：OBJECTIVE:To determine the value of a first trimester fetal ultrasound examination in cases of an increased nuchal translucency (NT). METHOD:A detailed fetal ultrasound examination was performed within 4 days of a detection of a first trimester increased NT. RESULTS:As many as 23 fetuses were evaluated. Severe anomal...

journal_title：Prenatal diagnosis

authors： Bronshtein M,Zimmer EZ,Blazer S

更新日期：2008-11-01 00:00:00

abstract：OBJECTIVES:To determine the recurrence risk of a free trisomy 21 pregnancy. METHODS:Data from the National Down Syndrome Cytogenetic Register (NDSCR), which contains information on nearly all cases of Down syndrome between 1989 and 2001 in England and Wales were used. Among 11 281 women with a Down syndrome pregnancy ...

journal_title：Prenatal diagnosis

authors： Morris JK,Mutton DE,Alberman E

更新日期：2005-12-01 00:00:00

abstract：OBJECTIVES:Our objective is to report long-term outcome after fetal cystoscopy for lower urinary tract obstruction (LUTO), as well as to investigate the accuracy of fetal cystoscopy in diagnosing the cause of bladder outlet obstruction. METHODS:This is a retrospective cohort study of all fetuses who underwent cystosco...

journal_title：Prenatal diagnosis

authors： Sananes N,Cruz-Martinez R,Favre R,Ordorica-Flores R,Moog R,Zaloszy A,Giron AM,Ruano R

更新日期：2016-04-01 00:00:00

abstract：:This study was undertaken to study the applicability of genetic antenatal screening for the Finnish type of congenital nephrosis (CNF), which is a recessive disorder leading to nephrotic syndrome from birth. At Kuopio University Hospital, a total of 1303 pregnant women were offered carrier screening for CNF at the tim...

journal_title：Prenatal diagnosis

authors： Kallinen J,Heinonen S,Ryynänen M,Pulkkinen L,Mannermaa A

更新日期：2001-02-01 00:00:00

abstract：OBJECTIVE:Low levels of maternal serum pregnancy associated plasma protein-A (PAPP-A) have been linked to chromosome anomalies such as trisomy 21, 13 and 18, triploidy and sex chromosome aneuploidy. Low levels of PAPP-A have also been implicated in spontaneous miscarriage. The purpose of this study was to evaluate whet...

journal_title：Prenatal diagnosis

authors： Yaron Y,Heifetz S,Ochshorn Y,Lehavi O,Orr-Urtreger A

更新日期：2002-09-01 00:00:00

abstract：:We present the prenatal ultrasound findings in a case of hydrolethalus. This case illustrates ongoing problems in differentiating hydrolethalus, both pre- and postnatally, from other midline malformation syndromes including Pallister-Hall, Smith-Lemli-Opitz, pseudo-trisomy 13, oral facial-digital syndrome, and Meckel ...

journal_title：Prenatal diagnosis

authors： Norgard M,Yankowitz J,Rhead W,Kanis AB,Hall BD

更新日期：1996-02-01 00:00:00

abstract：:Chromosomal mosaicism in amniotic fluid cells poses a serious dilemma in prenatal diagnosis since the observation may represent: (1) pseudomosaicism--an inconsequential tissue culture artefact; or (2) true mosaicism--occurring in approximately 0.20 per cent of amniocenteses with a significant impact on pregnancy outco...

journal_title：Prenatal diagnosis

authors： Schwartz S,Ashai S,Meijboom EJ,Schwartz MF,Sun CC,Cohen MM

更新日期：1989-08-01 00:00:00

abstract：:Despite efforts at prevention through the use of preconception folic acid, spina bifida remains one of the most common congenital anomalies of the central nervous system that is compatible with life. It is, however, associated with a significant degree of lifelong morbidity. The development of open fetal surgery for m...

journal_title：Prenatal diagnosis

authors： Bebbington MW,Danzer E,Johnson MP,Adzick NS

更新日期：2011-07-01 00:00:00

abstract：OBJECTIVE:The objective of this article is to estimate whether the maternal serum levels of A disintegrin and metalloprotease domain 12 (ADAM12-s), pregnancy-associated plasma protein-A (PAPP-A), and free beta human chorionic gonadotrophin (fβ-hCG) are altered in assisted reproduction techniques (ART) pregnancies. MET...

journal_title：Prenatal diagnosis

authors： Sahraravand M,Laitinen P,Järvelä I,Ryynänen M

更新日期：2016-02-01 00:00:00

abstract：:The sister of a child affected by Duchenne muscular dystrophy (DMD) was referred for genetic counselling to assess the risk of her being a carrier. Her brother had died 15 years previously at the age of 8. There were no other affected males in the family. There were no methods for DNA investigation at the time of the ...

journal_title：Prenatal diagnosis

authors： Restagno G,Ferrone M,Doriguzzi C,Palmucci L,Mongini T,Carbonara A

更新日期：1995-07-01 00:00:00

abstract：:An electron microscopic DOPA reaction test of fetal skin was used for the prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA). The subject was a 34-year-old Japanese woman in her second pregnancy. Her first child, born in 1982, had been previously examined and confirmed to have tyrosinase-negative ...

journal_title：Prenatal diagnosis

authors： Shimizu H,Ishiko A,Kikuchi A,Akiyama M,Suzumori K,Nishikawa T

更新日期：1994-06-01 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：:Immunoreactive trypsin (IRT) has been assayed in cord blood collection by fetoscopy from fetuses with estimated gestational ages of between 16-24 weeks. Eighty per cent of the specimens contained more than 5 ng/ml of IRT indicating pancreatic synthesis of trypsin by mid-term. A prenatal test for cystic fibrosis based ...

journal_title：Prenatal diagnosis

authors： Ryley HC,Rodeck CH

更新日期：1984-07-01 00:00:00

abstract：OBJECTIVES:To assess the attitudes of health professionals in Lebanon towards prenatal diagnosis and termination of pregnancy, for a series of genetic, non-genetic and non-medical conditions. METHODS:A total of 158 questionnaires were sent to geneticists, family doctors, pediatricians and obstetricians/gynecologists, ...

journal_title：Prenatal diagnosis

authors： Zahed L,Nabulsi M,Tamim H

更新日期：2002-10-01 00:00:00

abstract：:We present a family who sought prenatal diagnosis in order to bear a healthy child to serve as an HLA-identical bone marrow donor for their son affected with Wiskott-Aldrich syndrome. They intended to abort HLA-incompatible fetuses who would have been unsuitable bone marrow donors. This case led us to conclude that pr...

journal_title：Prenatal diagnosis

authors： Clark RD,Fletcher J,Petersen G

更新日期：1989-05-01 00:00:00

abstract：:Reduction in serum requirement for culture of primary human amniotic fluid cells can be achieved by the addition of 10 growth-promoting factors to the nutrient medium. This supplemented medium preserves cell types normally found in amniotic fluid cell cultures supplemented with 20-30 per cent fetal bovine serum. The v...

journal_title：Prenatal diagnosis

authors： Chang HC,Jones OW

更新日期：1985-09-01 00:00:00

abstract：:This paper examines the association between fetal choroid plexus cysts (CPCs) and trisomy 18 and proposes a method by which risks can be derived taking into account both sonographic findings and maternal age. Data from our centre on the sonographic findings of 58 fetuses with trisomy 18 and 387 fetuses with CPCs as we...

journal_title：Prenatal diagnosis

authors： Snijders RJ,Shawa L,Nicolaides KH

更新日期：1994-12-01 00:00:00

abstract：:Fourteen (2.5 per cent) of 568 chromosome preparations after CVS showed discrepancies between the placental and fetal karyotype, mainly due to placental mosaicism. The presence of a second cell line within the placenta was confirmed in all but one case, in which cytogenetic reinvestigations were carried out. Our clini...

journal_title：Prenatal diagnosis

authors： Schwinger E,Seidl E,Klink F,Rehder H

更新日期：1989-09-01 00:00:00