scholarly journals Application of molecular genetics to prenatal diagnosis and carrier detection in the hemophilias: some limitations

Blood ◽  
1985 ◽  
Vol 66 (4) ◽  
pp. 759-764
Author(s):  
JB Graham ◽  
PP Green ◽  
RA McGraw ◽  
LM Davis
Keyword(s):  
Prenatal Diagnosis ◽  
Error Rate ◽  
Disease Gene ◽  
New Technology ◽  
Marker Gene ◽  
First Trimester ◽  
Carrier Detection ◽  
Marker Genes ◽  
Second Trimester ◽  
High Level

Prenatal diagnosis and carrier detection in the hemophilias have received much attention in recent years. The error rate in prenatal diagnosis by fetoscopy is less than 1%; fetoscopy is not possible, however, until the second trimester of pregnancy. Carrier detection based on bioassays of plasma has an irreducible error rate (approximately 5%?), because of the “lyonization” phenomenon in heterozygous women, and the final results are always probabilistic. New DNA methods promise to alleviate these difficulties. Prenatal diagnosis can be accomplished in the first trimester. “Lyonization” is bypassed in carrier detection, and the results may sometimes be essentially nonprobabilistic. But the DNA methods have certain limitations of their own which are not widely appreciated. Aside from cost and the necessity to adopt a new technology, there are inherent genetic problems: mothers must be heterozygous for both a disease gene and a marker gene, final results are probabilistic if the marker gene lies outside the disease gene, and multiple marker genes are often in linkage disequilibrium. We have concluded that a clinical unit planning to use the DNA methods must also maintain the conventional methods at a high level of performance.

scholarly journals Application of molecular genetics to prenatal diagnosis and carrier detection in the hemophilias: some limitations

Blood ◽  
1985 ◽  
Vol 66 (4) ◽  
pp. 759-764 ◽  
Author(s):  
JB Graham ◽  
PP Green ◽  
RA McGraw ◽  
LM Davis
Keyword(s):  
Prenatal Diagnosis ◽  
Error Rate ◽  
Disease Gene ◽  
New Technology ◽  
Marker Gene ◽  
First Trimester ◽  
Carrier Detection ◽  
Marker Genes ◽  
Second Trimester ◽  
High Level

Abstract Prenatal diagnosis and carrier detection in the hemophilias have received much attention in recent years. The error rate in prenatal diagnosis by fetoscopy is less than 1%; fetoscopy is not possible, however, until the second trimester of pregnancy. Carrier detection based on bioassays of plasma has an irreducible error rate (approximately 5%?), because of the “lyonization” phenomenon in heterozygous women, and the final results are always probabilistic. New DNA methods promise to alleviate these difficulties. Prenatal diagnosis can be accomplished in the first trimester. “Lyonization” is bypassed in carrier detection, and the results may sometimes be essentially nonprobabilistic. But the DNA methods have certain limitations of their own which are not widely appreciated. Aside from cost and the necessity to adopt a new technology, there are inherent genetic problems: mothers must be heterozygous for both a disease gene and a marker gene, final results are probabilistic if the marker gene lies outside the disease gene, and multiple marker genes are often in linkage disequilibrium. We have concluded that a clinical unit planning to use the DNA methods must also maintain the conventional methods at a high level of performance.

Prenatal diagnosis of Turner syndrome: two clinical cases and a retrospective analysis of detected cases on the basis of the Stavropol Regional Clinical Consulting and Diagnostic Center from 2008 to 2018

2018 ◽  
Author(s):  
V.V. Ezhova, T.M. Vdovina
Keyword(s):  
Prenatal Diagnosis ◽  
Turner Syndrome ◽  
First Trimester ◽  
Diagnostic Value ◽  
Second Trimester ◽  
Monosomy X ◽  
Clinical Observations ◽  
Diagnostic Center ◽  
Cytogenetic Studies ◽  
Full Form

Objective. The frequency of monosomy X is estimated. The diagnostic value of various ultrasound markers in a fetus with Turner syndrome in the first and second trimesters of pregnancy was evaluated. Materials. The database of cytogenetic studies from 2008 to 2018 of our center was analysed. Studies include invasive prenatal diagnosis and research on abortion material. Two clinical observations of Turner's syndrome identified in the second trimester of pregnancy were considered. Results. Of 3450 cytogenetic studies, 70 karyotypes of monosomy X were detected, the full form was found in 57 (81 %) cases, mosaic — 13 (19 %). The 46 karyotypes of monosomy X were non-developing pregnancies and 24 cases of invasive prenatal diagnosis. In the group of non-developing pregnancies, the complete form of monosomy X was observed in 40 (86.9 %) cases, mosaic — in 6 (13.1 %), embryo death in 73 % of cases occurred in the period of 8–9 weeks of gestation. The data of two clinical observations of Turner syndrome identified in the second trimester are presented. The finding ultrasonic markers of monosomy X in the analysed studies are considered. Conclusion. The detection of monosomy X is possible in most cases in the first trimester. However, the variability of symptoms and their severity does not always allow identify this pathology in the early stages. The search for soft markers during the second trimester ultrasound, the widespread use of echocardiography and a comprehensive assessment of all the studies performed can increase the frequency of detection of Turner syndrome.

X-CHROMOSOME-SPECIFIC PROBE DX13 FOR CARRIER DETECTION AND FIRST TRIMESTER PRENATAL DIAGNOSIS IN HAEMOPHILIA A

The Lancet ◽  
1984 ◽  
Vol 324 (8414) ◽  
pp. 1269-1270 ◽  
Author(s):  
T. Tønnesen ◽  
F. Søndergaard ◽  
M. Mikkelsen ◽  
K.E. Davies ◽  
J. Old ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
X Chromosome ◽  
First Trimester ◽  
Carrier Detection ◽  
Haemophilia A ◽  
Specific Probe

scholarly journals The impact of prenatal screening tests on prenatal diagnosis in Taiwan from 2006 to 2019: a regional cohort study

2022 ◽  
Vol 22 (1) ◽  
Author(s):  
Ching Hua Hsiao ◽  
Ching Hsuan Chen ◽  
Po Jen Cheng ◽  
Steven W. Shaw ◽  
Woei Chyn Chu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Prenatal Screening ◽  
Diagnostic Testing ◽  
First Trimester ◽  
Screening Tests ◽  
Screening Methods ◽  
Second Trimester ◽  
Invasive Procedures ◽  
Trimester Screening ◽  
The Impact

Abstract Background The purpose of this study is to evaluate the impact of prenatal screening tests on prenatal diagnosis in Taiwan’s 14 years from 2006 to 2019. Methods The prenatal screening methods evolved from the second-trimester serum screening to combined first-trimester screening (cFTS) and then followed by the non-invasive cell-free DNA prenatal test (NIPT). The data used by the Department of Statistics, the Ministry of Health and Welfare and Department of Household Registration, Ministry of the Interior public website. Results This regional registry-based cohort retrospective study examined a total of 2,775,792 births from January 2006 to December 2019. The proportion of advanced maternal age (AMA) pregnancies increased from 11.63% in 2006 to 30.94% in 2019. Overall, invasive diagnostic testing was used in 87.22% of AMA pregnancies. The prenatal detection rate of trisomy 21 and 18 increased from 74.1% and 83.3% in 2006 to 96.9% and 98.8% in 2019, respectively. Conclusion During the second-trimester and cFTS periods, the percentage of AMA pregnancies increased every year and the number of invasive procedures also accompany with increased percentage of AMA. However, during the period that NIPT were implemented, the percentage of invasive procedures decreased.

scholarly journals Three-dimensional/Four-dimensional Sonography moved Prenatal Diagnosis of Fetal Anomalies from the Second to the First Trimester of Pregnancy

2012 ◽  
Vol 6 (4) ◽  
pp. 376-390
Author(s):  
Ritsuko K Pooh
Keyword(s):  
Prenatal Diagnosis ◽  
New Technology ◽  
Three Dimensional ◽  
First Trimester ◽  
Fetal Anomalies ◽  
Diagnostic Modality ◽  
Functional Development ◽  
Early Embryos ◽  
First Trimester Of Pregnancy

ABSTRACT The introduction of three-dimensional (3D)/four-dimensional (4D) sonography with high-frequency transvaginal transducer has resulted in remarkable progress in ultrasonographic visualization of early embryos and fetuses and development of new fields of 3D sonoembryology. With the proper use of this new diagnostic modality and with experienced examiner, both structural and functional development in the first trimester of gestation can be assessed more objectively and reliable. Indeed, new technology moved embryology from postmortem studies to the in vivo environment. Furthermore, there are good reasons to believe that 3D/4D sonography moved prenatal diagnosis of fetal abnormalities from the second to the first trimester of pregnancy. We will try to illustrate it with the number of convincing figures. How to cite this article Pooh RK, Kurjak A. Three-dimensional/ Four-dimensional Sonography moved Prenatal Diagnosis of Fetal Anomalies from the Second to the First Trimester of Pregnancy. Donald School J Ultrasound Obstet Gynecol 2012;6(4):376-390.

A case of prenatal diagnosis of Apert syndrome: ultrasound features in first and second trimester of gestation

2018 ◽  
Author(s):  
O.A. Grammatikova, V.N. Osadshaya, I.Y. Starikova
Keyword(s):  
Prenatal Diagnosis ◽  
Gene Mutation ◽  
Clinical Observation ◽  
First Trimester ◽  
Hereditary Disease ◽  
Apert Syndrome ◽  
Second Trimester ◽  
Retrospective Assessment ◽  
First Trimester Of Pregnancy ◽  
Ultrasound Features

A rare congenital hereditary disease relating to the group of discraniye with the violation of ossification of a facial and brain skull, as well as various degree of intensity of syndaktylia of limbs (Apert syndrome) is presented. The patterns of gene mutation with such pathology are considered. The description of the clinical observation of the case of prenatal diagnosis of Apert syndrome, verified in the second trimester of pregnancy, including by means of 3D technologies, and the retrospective assessment of sonographic signs in the first trimester of pregnancy is presented.

Prenatal diagnosis of fetal hemivertebra in the first trimester

2019 ◽  
Vol 8 (2) ◽  
Author(s):  
Christos Parthenis ◽  
Vasiliki Michalitsi ◽  
Chrysanthi Chlapoutaki ◽  
Athena P. Souka
Keyword(s):  
Prenatal Diagnosis ◽  
First Trimester ◽  
Second Trimester ◽  
Spinal Abnormality ◽  
Ossification Centers ◽  
Congenital Spinal Abnormality

Abstract Hemivertebra is a congenital spinal abnormality. The condition may affect one or multiple vertebrae. Hemivertebra occurs because of malformations or absence of the ossification centers. Most cases reported in the literature are diagnosed in the second trimester, usually after 22 weeks. It is very unusual and difficult for the hemivertebra to be detected at the first trimester.

Prenatal diagnosis of factor 13 deficiency and its recurrence

2020 ◽  
Vol 13 (12) ◽  
pp. e236365
Author(s):  
Papa Dasari ◽  
Sairem Mangolngnbi Chanu ◽  
Laxmi Prasanna Gadipudi
Keyword(s):  
Prenatal Diagnosis ◽  
Factor Xiii ◽  
Fetal Distress ◽  
First Trimester ◽  
Genetic Mutation ◽  
Global Developmental Delay ◽  
Second Trimester ◽  
Factor Xiii Deficiency ◽  
Lower Segment Caesarean Section ◽  
Scarred Uterus

A young third gravida was referred with prenatal diagnosis of factor XIII deficiency at 20 weeks of pregnancy for Medical Termination of Pregnancy (MTP). Her first baby, who was born by emergency Lower Segment Caesarean Section (LSCS) for fetal distress, had intracranial haemorrhage in the early neonatal period and was investigated elsewhere and diagnosed to have factor XIII deficiency. The child currently has global developmental delay and cerebral palsy. The mother had a second-degree consanguineous marriage and the couple were diagnosed to be carriers of factor XIII deficiency. She had lot of barriers to get prenatal diagnosis during the second pregnancy and it ended up in Intra Uterine Fetal Death (IUFD) at 27 weeks. During the current pregnancy, prenatal diagnosis (PND) was done only after the second trimester amniocentesis and the genetic mutation was F13 A1, Ex12, C.1687 G>A. Second trimester MTP in a previous scarred uterus was difficult as it is essential to avoid scar rupture. PND during the first trimester is ideal.

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