Preimplantation genetic diagnosis for single gene disorders: experience with five single gene disorders.

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：:Haemolytic disease of the fetus and newborn (HDFN) due to red cell alloimmunization was a significant cause of fetal and neonatal morbidity and mortality until the introduction of anti-D immunoglobulin, which has dramatically changed the incidence of the disease. However, it is still a major problem in affected pregna...

journal_title：Prenatal diagnosis

authors： Illanes S,Soothill P

更新日期：2010-07-01 00:00:00

abstract：:Prenatal screening using the maternal serum markers alpha-fetoprotein, human chorionic gonadotropin, and unconjugated oestriol was investigated in a native Japanese population. Comparison with a Caucasian U.S. population revealed differences which led to modification of the generally used equations for risk calculatio...

journal_title：Prenatal diagnosis

authors： Onda T,Kitagawa M,Takeda O,Sago H,Kubonoya K,Iinuma K,Bradley LA,Canick JA,Krasikov NE,Ponting NR,Grier RE

更新日期：1996-08-01 00:00:00

abstract：:We studied two children born to a myasthenic mother. The first child, a female, had multiple flexion contractures. She died 1 h after birth. In the second pregnancy, 3 years later, ultrasonographic examination at 20 weeks showed decreased fetal movements and multiple flexion contractures. The pregnancy was interrupted...

journal_title：Prenatal diagnosis

authors： Stoll C,Ehret-Mentre MC,Treisser A,Tranchant C

更新日期：1991-01-01 00:00:00

abstract：:A case of gastric outlet obstruction diagnosed prenatally at 22 weeks' gestation is described. The differential diagnosis and the clinical management of this rare condition are discussed, and an updated literature review is presented. ...

journal_title：Prenatal diagnosis

authors： Weissman A,Achiron R,Kuint J,Lipitz S,Mashiach S,Avigad I

更新日期：1994-09-01 00:00:00

abstract：:In the first trimester of pregnancy the biochemical markers free beta-hCG and pregnancy associated plasma protein-A (PAPP-A) are used for the prenatal screening of trisomy 21, either alone or in combination with nuchal translucency (NT) thickness. In this study, I have analysed the distribution of these biochemical ma...

journal_title：Prenatal diagnosis

authors： Spencer K

更新日期：2000-02-01 00:00:00

abstract：OBJECTIVES:To evaluate the diagnostic yield of noninvasive prenatal diagnosis (NIPD) for FGFR3-related skeletal dysplasias and assess the accuracy of referrals based on sonographic findings to inform guidelines for referral. METHODS:We retrospectively reviewed laboratory and referral records from 2012 to 2018 to ascer...

journal_title：Prenatal diagnosis

authors： Mellis R,Chandler N,Jenkins L,Chitty LS

更新日期：2020-06-01 00:00:00

abstract：:Prenatal detection of chromosome mosaicism is a relatively rare phenomenon and always constitutes a diagnostic problem. The difficulties are much more when the mosaics involve the sex chromosomes, because of the large phenotypic variability in individuals with these abnormalities. We studied 5 cases of true mosaics, 4...

journal_title：Prenatal diagnosis

authors： Nocera G,Dalpra' L,Tibiletti MG,Buscaglia M

更新日期：1985-05-01 00:00:00

abstract：:We report on a case of a female fetus found to be mosaic for Turner syndrome (45,X) and trisomy X (47,XXX). Chromosomal microarray analysis (CMA) failed to detect the aneuploidy because of a normal average dosage of the X chromosome. This case represents an unusual instance in which CMA may not detect chromosomal aber...

journal_title：Prenatal diagnosis

authors： Markus-Bustani K,Yaron Y,Goldstein M,Orr-Urtreger A,Ben-Shachar S

更新日期：2012-11-01 00:00:00

abstract：:In the case-control study of 118 women with autosomal trisomy identified at prenatal diagnosis and their 442 karyotypically normal matched controls, we found that there was no overall association between risk of trisomy and the presence of vaginal bleeding during pregnancy. However, a lengthy duration of bleeding appe...

journal_title：Prenatal diagnosis

authors： Neugut RH,Lustenberger A,Nicholas A,Kline J,Warburton D

更新日期：1987-11-01 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：OBJECTIVE:To report on the occurrence of in utero acquired limb ischemia in two referral institutions managing monochorionic (MC) twins with and without twin-to-twin transfusion syndrome (TTTS) and estimate its prevalence. METHODS:All MC twin pregnancies assessed at two referral units between 2002 and 2007 were retros...

journal_title：Prenatal diagnosis

authors： Lopriore E,Lewi L,Oepkes D,Debeer A,Vandenbussche FP,Deprest J,Walther FJ

更新日期：2008-09-01 00:00:00

abstract：:We present a case of prenatal diagnosis of Fanconi anaemia (FA) in a pair of twins at 14 weeks of gestation. The parents had previously had two children: a healthy boy and a boy with FA belonging to complementation group C (FAC). The FA patient is a compound heterozygote, carrying a 322delG and a IVS4+4A-->T mutation ...

journal_title：Prenatal diagnosis

authors： Kwee ML,Lo Ten Foe JR,Arwert F,Pals G,Madan K,Nieuwint A,In't Veld PA,Van der Horst AR,Van Vugt JM,Ten Kate LP

更新日期：1996-04-01 00:00:00

abstract：OBJECTIVE:To describe brain imaging findings and outcomes in fetuses with confirmed congenital toxoplasmosis (CTX). METHODS:Physicians from Prenatal Diagnosis Units in ten Latin American countries were contacted and asked to provide data on fetuses with ultrasound findings suggestive of intrauterine infection and a po...

journal_title：Prenatal diagnosis

authors： Malinger G,Werner H,Rodriguez Leonel JC,Rebolledo M,Duque M,Mizyrycki S,Lerman-Sagie T,Herrera M

更新日期：2011-09-01 00:00:00

abstract：:Clinical diagnostic laboratories are producing next-generation sequencing-based test results that are becoming increasingly incorporated into patient care. Whole genome and exome sequencing on fetal material derived from amniocytes, chorionic villi, or products of conception is starting to be offered clinically in spe...

journal_title：Prenatal diagnosis

authors： Abou Tayoun AN,Spinner NB,Rehm HL,Green RC,Bianchi DW

更新日期：2018-01-01 00:00:00

abstract：:This study was undertaken in an attempt to determine the significance of elevated maternal serum human chorionic gonadotropin (MShCG), in the presence of an otherwise normal screen with respect to fetal malformations, chromosomal aberrations, and pregnancy outcome. Targeted ultrasound findings and perinatal outcome of...

journal_title：Prenatal diagnosis

authors： Fejgin MD,Kedar I,Amiel A,Ben-Tovim T,Chen R,Petel Y,Tepper R

更新日期：1997-11-01 00:00:00

abstract：:Trisomy 12 mosaicism was found in about 15 per cent of cultured amniocytes obtained from a 32-year-old white female at 17.6 weeks of gestation. Termination of pregnancy was elected and multiple tissues were obtained for chromosome analysis. Of 158 cells examined, only 1 cell in placenta was found with an extra number ...

journal_title：Prenatal diagnosis

authors： Petrella R,Hirschhorn K

更新日期：1990-12-01 00:00:00

abstract：:Counselling in connection with prenatal diagnosis (PND) is a common task for the obstetrician and the midwife. However, the decision making processes of pregnant women are not completely known, for instance, the questions of women's autonomy, the decision on how to act in the case of an abnormal test, and the partner'...

journal_title：Prenatal diagnosis

authors： Sjögren B,Uddenberg N

更新日期：1988-05-01 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：:Fetal pleural effusion, a nonspecific accumulation of fluid in the pleural space, is an uncommon anomaly which can be associated with aneuploidy and a range of other structural malformations or genetic syndromes. Spontaneous resolution is not rare and confers a good prognosis. Perinatal outcome is better for those fet...

journal_title：Prenatal diagnosis

authors： Rustico MA,Lanna M,Coviello D,Smoleniec J,Nicolini U

更新日期：2007-09-01 00:00:00

abstract：:The use of prenatal ultrasound has proven efficacious for the prenatal diagnosis of chromosomal abnormalities. The first sonographic sign of Down syndrome, the thickened nuchal fold, was first described in 1985. Since that time, multiple sonographically-identified markers have been described as associated with Down sy...

journal_title：Prenatal diagnosis

authors： Shipp TD,Benacerraf BR

更新日期：2002-04-01 00:00:00

abstract：:Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we r...

journal_title：Prenatal diagnosis

authors： Savas S,Eraslan S,Kantarci S,Karaman B,Acarsoz D,Tükel T,Cogulu O,Ozkinay F,Basaran S,Aydinli K,Yuksel-Apak M,Kirdar B

更新日期：2002-08-01 00:00:00

abstract：OBJECTIVES:To evaluate the screening accuracy for Down syndrome of nuchal translucency (NT) measurement at different crown-rump length (CRL) subgroups along the 10- to 14-week period. METHODS:NT was classified 'enlarged' if greater than or equal to 1.5 and 2.0 multiples of the regressed median. Accuracies for Down syn...

journal_title：Prenatal diagnosis

authors： Zoppi MA,Ibba RM,Floris M,Manca F,Axiana C,Monni G

更新日期：2005-05-01 00:00:00

abstract：:A case of early diagnosis at 13 weeks' gestational age of Meckel-Gruber syndrome by ultrasound is reported in a patient with a 25 per cent recurrence risk. The usefulness of genetic counselling and aimed echographic examination is discussed. ...

journal_title：Prenatal diagnosis

authors： Pachì A,Giancotti A,Torcia F,de Prosperi V,Maggi E

更新日期：1989-03-01 00:00:00

abstract：:We report on the prenatal diagnosis of ring chromosome 15 in a fetus with increased nuchal fold and intrauterine growth restriction (IUGR). A 27-year-old woman gravida 2, para 1 had normal maternal serum screen tests in the early second trimester of the index pregnancy. Fetal nuchal fold thickening up to 8 mm was inci...

journal_title：Prenatal diagnosis

authors： Liu YH,Chang SD,Chen FP

更新日期：2001-12-01 00:00:00

abstract：OBJECTIVE:To report the outcome of transient abnormal cardiac flow patterns (ABCFP) at 13 to 17 weeks' gestation. METHODS AND RESULTS:Observational single operator study of transvaginal sonography scans of 13,183 fetuses. Of the 22 fetuses with ABCFP (1:600) high pulmonary valvular velocity was detected in 11 (8 of th...

journal_title：Prenatal diagnosis

authors： Bronshtein M,Zimmer EZ,Blazer S,Blumenfeld Z

更新日期：2012-05-01 00:00:00

abstract：OBJECTIVE:To establish the relationship between the first-trimester screening markers [pregnancy-associated plasma protein A (PAPP-A), free human chorionic gonadotrophin-beta (beta-hCG), nuchal translucency (NT)], the Down syndrome (DS) risk estimate, and the adverse outcomes such as low birth weight, small for gestati...

journal_title：Prenatal diagnosis

authors： Pihl K,Sørensen TL,Nørgaard-Pedersen B,Larsen SO,Nguyen TH,Krebs L,Larsen T,Christiansen M

更新日期：2008-03-01 00:00:00

abstract：:A 45-year-old woman underwent serial ultrasound screening procedures during late first and second trimesters of pregnancy for advanced maternal age. Cultured amniocytes karyotype indicated full trisomy 21. Subsequently, the fetus developed congenital cataract diagnosed at 24 weeks. This is the first antenatal diagnosi...

journal_title：Prenatal diagnosis

authors： Romain M,Awoust J,Dugauquier C,Van Maldergem L

更新日期：1999-08-01 00:00:00

abstract：:Amniocentesis performed after 24 weeks' gestation following ultrasonographic diagnosis of isolated unilateral hydronephrosis showed a de novo extra structurally abnormal chromosome in all cells examined. A combination of conventional and molecular cytogenetic techniques characterized the supernumerary marker as a dice...

journal_title：Prenatal diagnosis

authors： Lohmann L,Chelloug N,Rosales B,Guérin C,Lyonnet S,Jonveaux P,Simon-Bouy B

更新日期：2000-02-01 00:00:00

abstract：:We describe the detection of congenital long QT syndrome in a fetus at 37 weeks' gestation using magnetocardiography (MCG). The prenatal diagnosis was confirmed by standard electrocardiography (ECG) performed after birth. This is the first case report of fetal long QT syndrome detected by MCG. Fetal MCG may be useful ...

journal_title：Prenatal diagnosis

authors： Hamada H,Horigome H,Asaka M,Shigemitsu S,Mitsui T,Kubo T,Kandori A,Tsukada K

更新日期：1999-07-01 00:00:00