Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation.

abstract：OBJECTIVE:Fetoscopic endoluminal tracheal occlusion (FETO) may improve outcome of severe isolated congenital diaphragmatic hernia (iCDH). We aimed to identify any discrepancy between initial assessment at the referring hospital and the evaluation at the fetal surgery center, and to document parental decisions following...

journal_title：Prenatal diagnosis

authors： Done E,Gucciardo L,Van Mieghem T,Devriendt K,Allegaert K,Brady P,Devlieger R,De Catte L,Lewi L,Deprest J

更新日期：2017-09-01 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：OBJECTIVE:Fetal cells cross the feto-maternal barrier and circulate in maternal peripheral blood; thus, this study aimed to show the relationship between clinical evidence in pregnancy and qualitative feto-maternal barrier changes. METHODS:The expression of fetal hemoglobin gamma chain messenger RNA (HbF-gamma mRNA) w...

journal_title：Prenatal diagnosis

authors： Okuda T,Kinoshita Y,Tamura T,Kato C,Kojima H,Watanabe A,Honjo H

更新日期：2004-11-01 00:00:00

abstract：:In order to elucidate the consistency between generally used age-dependent risk values for Down syndrome (DS) and estimates of the probability of miscarriage in Down pregnancies we have compared expected numbers with estimated numbers of births with DS in Denmark had no intervention at all been carried out. The expect...

journal_title：Prenatal diagnosis

authors： Larsen SO,Hansen J,Pedersen BN

更新日期：2001-08-01 00:00:00

abstract：OBJECTIVES:To determine if the ultrasound marker Nuchal Index (NIx) is gestational age independent, and to determine its specificity and sensitivity for Down syndrome (DS) identification. METHODS:Prospective cohort. A prospective database of fetal biometry and soft markers of aneuploidy was searched for fetuses with t...

journal_title：Prenatal diagnosis

authors： Lim KI,Pugash D,Dansereau J,Wilson RD

更新日期：2002-12-01 00:00:00

abstract：:The significance of trisomy 20 mosaicism in cultured amniotic fluid cells is still confusing. We report a case of amniotic cell normal/trisomy 20 mosaicism diagnosed prenatally. The pregnancy was carried to term and a normal baby girl was delivered. The authors consider that in cases of amniotic fluid cell normal/tris...

journal_title：Prenatal diagnosis

authors： Bösze P,László J,Tóth A

更新日期：1982-07-01 00:00:00

abstract：:The heart is often perceived as a difficult organ to understand by ultrasound during fetal life. This is undoubtedly reflected in the low detection rate of cardiac abnormalities as compared to those of most other organ systems in the fetus. In this article we start by updating classical concepts of cardiac embryology,...

journal_title：Prenatal diagnosis

authors： Cook AC,Yates RW,Anderson RH

更新日期：2004-12-30 00:00:00

abstract：OBJECTIVE:The objective of the study is to examine the incidence of chromosomal or genetic abnormalities in pregnancies complicated by polyhydramnios and to assess the value of prenatal ultrasound findings in the prediction of cases associated with such disorders. METHODS:We searched the prenatal records of all patien...

journal_title：Prenatal diagnosis

authors： Boito S,Crovetto F,Ischia B,Crippa BL,Fabietti I,Bedeschi MF,Lalatta F,Colombo L,Mosca F,Fedele L,Persico N

更新日期：2016-08-01 00:00:00

abstract：:Intrauterine fetal demise (IUFD) in one of twins at 12 weeks of gestation was accompanied by markedly elevated maternal serum alpha-fetoprotein (AFP) at 17 and 18 weeks. Amniotic fluid AFP from the healthy surviving twin's sac at 18.5 and 23 weeks was also greatly increased along with a positive acetylcholinesterase (...

journal_title：Prenatal diagnosis

authors： Bass HN,Oliver JB,Srinivasan M,Petrucha R,Ng W,Lee JE

更新日期：1986-01-01 00:00:00

abstract：:Respiratory chain deficiency (RCD) is responsible for a clinically heterogeneous group of early-onset untreatable disorders. Enzymological prenatal diagnosis (PD) can only be offered to a fraction of families. Moreover, due to the two-fold genetic origin of the respiratory chain (nuclear and mitochondrial DNA) and owi...

journal_title：Prenatal diagnosis

authors： Amiel J,Gigarel N,Benacki A,Benit P,Valnot I,Parfait B,Von Kleist-Retzow JC,Raclin V,Hadj-Rabia S,Dumez Y,Rustin P,Bonnefont JP,Munnich A,Rötig A

更新日期：2001-07-01 00:00:00

abstract：OBJECTIVE:The objective of this study was to compare the associations of crown-rump length (CRL) discrepancy with birthweight discordance in spontaneous versus in vitro fertilization (IVF) monochorionic (MC) twin pregnancies. METHOD:This is a multicenter retrospective study on women with twin pregnancies assessed for ...

journal_title：Prenatal diagnosis

authors： Ben-Ami I,Daniel-Spiegel E,Battino S,Melcer Y,Floeck A,Geipel A,Miron P,Maymon R

更新日期：2015-09-01 00:00:00

abstract：OBJECTIVE:The objective of this study was to evaluate the accuracy of fetal diffusion-weighted magnetic resonance imaging with apparent diffusion coefficient (ADC) determination to predict postnatal renal function (nadir creatinine at 1 year and eGFR) of men with posterior urethral valves (PUV). METHODS:Between 2003 a...

journal_title：Prenatal diagnosis

authors： Faure A,Panait N,Panuel M,Alessandrini P,D'Ercole C,Chaumoitre K,Merrot T

更新日期：2017-07-01 00:00:00

abstract：:A single umbilical artery was seen in 10 out of 117 cytogenetically abnormal pregnancies. The abnormal karyotypes found to be associated with a single umbilical artery were trisomy 18 (n = 5), monosomy X (n = 2), triploidy (n = 1), sex chromosome (47,XYY; n = 1) and translocation (46t(X,5)(q13p15);n = 1). With the exc...

journal_title：Prenatal diagnosis

authors： Khong TY,George K

更新日期：1992-11-01 00:00:00

abstract：:Of the 65 328 pregnancies of South Australian mothers screened by the South Australian Maternal Serum Antenatal Screening (SAMSAS) Programme between 1 January 1991 and 31 December 1997, 3431 (5.25%) were declared at increased risk of fetal Down syndrome. Fetal or neonatal karyotype was determined in 2737/3431 (79.8%) ...

journal_title：Prenatal diagnosis

authors： Ryall RG,Callen D,Cocciolone R,Duvnjak A,Esca R,Frantzis N,Gjerde EM,Haan EA,Hocking T,Sutherland G,Thomas DW,Webb F

更新日期：2001-07-01 00:00:00

abstract：OBJECTIVE:To investigate the incidence of structural and chromosomal abnormalities in cases of fetal edema on early ultrasound prior to non-invasive prenatal testing (NIPT). METHODS:A retrospective study of women undergoing pre-NIPT ultrasound with fetal crown-rump length (CRL) of 28 to 44 mm was conducted at a tertia...

journal_title：Prenatal diagnosis

authors： Ramkrishna J,Menezes M,Humnabadkar K,Tse C,Maxfield MJ,da Silva Costa F,Rolnik DL,Meagher S

更新日期：2020-10-17 00:00:00

abstract：:Single umbilical artery is among the most common funicular vascular anomalies. In contrast, umbilical artery stenosis is rare, and has only been reported in three-vessel cords. We describe a case of single umbilical artery stenosis in a fetus with no associated malformations. Intrauterine fetal death occurred at 28 we...

journal_title：Prenatal diagnosis

authors： Meir K,Yagel S,Amsalem H,Ariel I

更新日期：2002-03-01 00:00:00

abstract：:A 37-year-old gravida was referred for CVS because of advanced maternal age. A trisomy 21 was present in all cells after short-term incubation (direct processing (DP)) and long-term culture. According to our policy, a retap was offered for confirmation of the result during the legally required 3-day waiting period bet...

journal_title：Prenatal diagnosis

authors： Hammer P,Holzgreve W,Karabacak Z,Horst J,Miny P

更新日期：1991-02-01 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：:Even though the global COVID-19 pandemic may affect how medical care is delivered in general, most countries try to maintain steady access for women to routine pregnancy care, including fetal anomaly screening. This means that, also during this pandemic, fetal anomalies will be detected, and that discussions regarding...

journal_title：Prenatal diagnosis

authors： Deprest J,Van Ranst M,Lannoo L,Bredaki E,Ryan G,David A,Richter J,Van Mieghem T

更新日期：2020-12-01 00:00:00

abstract：:In order to gain more insight into the association between alpha-fetoprotein (AFP) and fetal chromosomal disorders, especially Down's syndrome, we measured AFP in fetal serum, amniotic fluid, and maternal serum at cordocentesis. We compared the concentration and gradient of AFP in these three compartments. Our data co...

journal_title：Prenatal diagnosis

authors： Van Lith JM,Beekhuis JR,Van Loon AJ,Mantingh A,De Wolf BT,Breed AS

更新日期：1991-08-01 00:00:00

abstract：OBJECTIVE:The aim of this article is to assess the predictive value of second trimester mean uterine artery Doppler pulsatility index (mUtA PI) for pregnancy complications in women with systemic lupus erythematosus (SLE). METHODS:Cohort study of consecutive pregnancies complicated with SLE during a period of 12 years ...

journal_title：Prenatal diagnosis

authors： Pagani G,Reggia R,Andreoli L,Prefumo F,Zatti S,Lojacono A,Tincani A,Frusca T

更新日期：2015-05-01 00:00:00

abstract：:Forty-seven twin pregnancies among 3676 patients who had a genetic amniocentesis between 1973 and 1979, are reported. The detection rate of twins at the time of amniocentesis was 62 per cent. Five (17 per cent) of the 29 women with detected twin pregnancy aborted spontaneously, these are compared with 1 (6 per cent) o...

journal_title：Prenatal diagnosis

authors： Palle C,Andersen JW,Tabor A,Lauritsen JG,Bang J,Philip J

更新日期：1983-04-01 00:00:00

abstract：:A new case of macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) syndrome is described. The patient presented typical congenital findings in utero, although the syndrome was diagnosed postnatally. The M-CMTC syndrome should be considered when there is a marked fetal overgrowth and progressive macrocephaly...

journal_title：Prenatal diagnosis

authors： Nyberg RH,Uotila J,Kirkinen P,Rosendahl H

更新日期：2005-02-01 00:00:00

abstract：:Three different types of chromosome 12 inversion were seen in 15 individuals out of 44 individuals examined in one 8 generation family. Type 1: a pericentric inversion inv(12) (p112; q131) was found in 7 individuals and twice at prenatal diagnosis. Type 2: a paracentric inversion inv(12) (p123; p131) was seen in two i...

journal_title：Prenatal diagnosis

authors： Poulsen H,Mikkelsen M,Holmgren G

更新日期：1981-01-01 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：OBJECTIVE:To construct new reference charts and equations for fetal biparietal diameter (BPD), head circumference (HC), abdominal circumference (AC) and femur diaphysis length (FDL) from Korean fetuses at 12-40 weeks. METHOD:Prospective cross-sectional data obtained in one center for 5 years from a population of pregn...

journal_title：Prenatal diagnosis

authors： Jung SI,Lee YH,Moon MH,Song MJ,Min JY,Kim JA,Park JH,Yang JH,Kim MY,Chung JH,Cho JY,Kim KG

更新日期：2007-06-01 00:00:00

abstract：OBJECTIVE:To identify factors that affected the decision of pregnant women at high risk for pre-eclampsia (PE) in accepting or declining participation in a medicated clinical trial (ASPRE) for the prevention of preterm PE. METHOD:This was a qualitative, cross-sectional study. A purposive sample of 14 participants and ...

journal_title：Prenatal diagnosis

authors： Nikčević AV,Dodd Z,Prior J,O'Gorman N,Poon LC,Nicolaides KH

更新日期：2019-11-01 00:00:00

abstract：OBJECTIVE:The objective of this study is to report the prenatal ultrasound scan findings in four fetuses from two families postnatally diagnosed with 17q12 microdeletion syndrome on microarray CGH and review the literature. METHODS:We report two families presenting with prenatally detected hyperechogenic kidneys. In f...

journal_title：Prenatal diagnosis

authors： Jones GE,Mousa HA,Rowley H,Houtman P,Vasudevan PC

更新日期：2015-12-01 00:00:00

abstract：OBJECTIVES:To explore the effect of maternal rhesus status on first-trimester screening markers for Down syndrome. METHODS:We accessed a database of singleton pregnancies undergoing first-trimester genetic screen with maternal Rh status documented and pregnancy outcome information available. Excluded were cases of fet...

journal_title：Prenatal diagnosis

authors： Muhcu M,Mungen E,Atay V,Ipcioglu OM,Dundar O,Ergur R,Yergok YZ

更新日期：2008-05-01 00:00:00

abstract：OBJECTIVE:To study associations of first trimester cell-free fetal DNA levels (in this paper referred to as cell-free placental DNA (cfpDNA) levels) and preeclampsia (PE), pregnancy-induced hypertension (PIH), gestational diabetes (GDM) and spontaneous preterm birth (sPB). METHOD:A nested case-control study was conduc...

journal_title：Prenatal diagnosis

authors： Thurik FF,Lamain-de Ruiter M,Javadi A,Kwee A,Woortmeijer H,Page-Christiaens GC,Franx A,van der Schoot CE,Koster MP

更新日期：2016-12-01 00:00:00