scholarly journals The Risk of Chromosomal Abnormalities in Cases of Minor and Major Fetal Anomalies in the Second Trimester

2020 ◽  
Author(s):  
Artúr Beke ◽  
Aténé Simonyi
Keyword(s):  
Chromosomal Abnormalities ◽  
Normal Pregnancy ◽  
Cystic Hygroma ◽  
Duodenal Atresia ◽  
Chromosome Abnormalities ◽  
Second Trimester ◽  
Fetal Ultrasound ◽  
Edwards Syndrome ◽  
Minor Anomalies ◽  
A Minor

Currently, noninvasive intrauterine screening for most chromosome abnormalities is available, but ultrasound examinations also play an important role during pregnancy, by drawing the attention to the suspect of a possible abnormality. Fetal ultrasound disorders can be classified into two major groups: (1) Major abnormalities are actually diagnosed malformations that are often associated with certain chromosome abnormalities but may be associated with other disorders (multiplex malformation) and may occur as isolated disorders (e.g., cardiac disorders, duodenal atresia, omphalocele, cystic hygroma (CH)). (2) Minor anomalies (“soft markers”) are not abnormal in themselves but are mild abnormalities that may occur in normal pregnancy but also increase the risk of certain chromosome aberrations. The minor anomalies in the second trimester include thickened nuchal fold (NF), mild ventriculomegaly, pyelectasis, hyperechogenic bowels, hyperechogenic papillary muscle, and shorter long bones. Plexus choroid cyst which is classified as a minor marker does not increase the risk of Down syndrome but increases the risk of trisomy 18 (Edwards syndrome). We want to emphasize the importance of screening of minor and major ultrasound abnormalities in detecting chromosomal abnormalities in the second trimester.

scholarly journals Antenatal Diagnosis and Management of Nuchal Cystic Hygroma

2012 ◽  
Vol 6 (1) ◽  
pp. 109-111
Author(s):  
Jeanne Hortence Fouedjio ◽  
Florent Ymele Fouelifack
Keyword(s):  
Morphological Analysis ◽  
Obstet Gynecol ◽  
Chromosomal Abnormalities ◽  
Antenatal Diagnosis ◽  
Cystic Hygroma ◽  
In Utero ◽  
Second Trimester ◽  
Diagnosis And Management ◽  
Pregnancy Status ◽  
Clinical Questions

ABSTRACT Ultrasonographic evaluation, as a routine component of antenatal care, has significantly contributed to in utero assessment of pregnancy status. The detection of fetal abnormalities by ultrasound, however, has raised clinical questions and created parental dilemmas concerning the outcomes of such pregnancies. A relatively frequent anomaly observed on routine ultrasonographic examination is the posterior nuchal cystic hygroma. Most cases of cystic hygromas are associated with chromosomal abnormalities. Only 2 to 3% survival rate is reported when fetal cystic hygromas are diagnosed in utero. This information should be helpful when counseling patients whose pregnancies involve fetuses with this anomaly. We report a case of nuchal cystic hygroma diagnosed in the second trimester of pregnancy with the aid of an ultrasonographic morphological analysis. Parents requested termination of pregnancy. How to cite this article Fouedjio JH, Fouelifack FY. Antenatal Diagnosis and Management of Nuchal Cystic Hygroma. Donald School J Ultrasound Obstet Gynecol 2012;6(1):109-111.

scholarly journals Fetal ultrasound findings in trisomy 18 at midpregnancy

Genetika ◽  
2015 ◽  
Vol 47 (3) ◽  
pp. 833-838
Author(s):  
Bojana Petrovic ◽  
Aleksandar Ljubic ◽  
Milica Komnenic ◽  
Violeta Joksimovic ◽  
Olivera Lekic-Miladinovic
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Health Care Providers ◽  
Chromosomal Abnormalities ◽  
Partial Trisomy ◽  
Trisomy 18 ◽  
Care Providers ◽  
Fetal Blood ◽  
Fetal Ultrasound ◽  
Edwards Syndrome

Trisomy 18 (Edwards' syndrome), a lethal chromosomal aberration, is the second most common autosomal trisomy with an incidence 1: 8000. The aim of this study is to evaluate the sonographic findings in fetuses with trisomy 18. In ten years period (2002-2012) we analyzed fetal blood samples for chromosome abnormalities. Samples were taken by cordocentesis and processed using standard techniques. Sixteen metaphase cells were analyzed for chromosomal constitution in each sample after tripsin-Giemsa banding. A retrospective review of the cytogenetic laboratory database identified all cases of trisomy 18 in ten years period. The prenatal sonographic studies in fetuses at 16 to 22 weeks' gestation, done before invasive testing for the karyotype were reviewed for anatomic findings. From 2100 samples of fetal blood analyzed for chromosomal abnormalities, there were 16 (0,8%) with complete trisomy 18. We found no mosaicism, or partial trisomy 18. The women that carried fetuses with trisomy 18 were 17 to 42 years of age. Four of them were above 35. From 16 fetuses with trisomy 18, 14 (87,5%) had some anomaly detected by ultrasound, and other two were tested because of advanced maternal age. The most common findings in trisomy 18 were intrauterine growth retardation, polyhidramnios and anomalies of central nervous system, in 29% respectively. Multiple anomalies, including central nervous system, hart and gastrointestinal system anomalies, were also frequent (21%). Therapeutic termination of pregnancy was done in all cases after genetic counseling. Screening for chromosomal abnormalities using ultrasound is at utmost importance in cases of nonhereditary aberrations. Detailed ultrasonographic examinations of fetuses will enable health care providers to form the appropriate management plan for each patient.

Efficacy of Routine Fetal Ultrasound Screening for Congenital Heart Disease in Normal Pregnancy

Circulation ◽  
1996 ◽  
Vol 94 (1) ◽  
pp. 67-72 ◽  
Author(s):  
E. Buskens ◽  
D.E. Grobbee ◽  
I.M.E. Frohn-Mulder ◽  
P.A. Stewart ◽  
R.E. Juttmann ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Normal Pregnancy ◽  
Ultrasound Screening ◽  
Fetal Ultrasound

scholarly journals Can Co-enzyme Q10 improve the chances of conception after the age of 35?

2017 ◽  
Vol 6 (7) ◽  
pp. 2729
Author(s):  
Eman Ali Abd El Fattah
Keyword(s):  
Chromosomal Abnormalities ◽  
Normal Pregnancy ◽  
Metabolic Energy ◽  
Secondary Outcome ◽  
Slowing Down ◽  
Ovulation Stimulation ◽  
Before And After ◽  
History Of ◽  
Group A ◽  
Group B

Background: ovarian follicular quality diminishes with age, Free radicals and oxidative stress begin to accumulate in cells, aging or slowing down the metabolic energy production centers in the cell- the mitochondria. When the mitochondria cannot generate a certain amount of energy, it slows growth and proper development of the follicle making it more prone to DNA damage, including chromosomal abnormalities resulting in poor fertilization patterns, and early miscarriage. Co-enzyme Q10 (CoQ10) is a major cellular antioxidant. its tissue levels gradually decrease with age. We attempt to evaluate its protective effect on ROS-induced ovarian damage, which is one of the most important and widely accepted patho- mechanisms underlying cell ageing.Methods: 40 Participants   from El Shatby hospital infertility clinic 35 to 38 years old, with history of bad response to ovulation stimulation, were divided into two equal groups (group A given (CoQ10) 3mg|kg body weight for three cycles prior to stimulation Serum anti- mullarian hormone level was measured before and after CoQ10 administration, group B= twenty cases as control). Participants were given gonadotrophins (150 IU to 375 IU). Follicular growth was monitored by trans- vaginal ultra- sonography and serum estradiol level (E2). Ovulation trigger was achieved using 10,000 IU of human chorionic gonadotrophin.Results: The primary outcome was occurrence of normal pregnancy; secondary outcome was good response to stimulation (at least one mature follicle 18-22mm).Conclusions: CoQ10 has no significant effect on response to ovulation stimulation or on pregnancy rates.

scholarly journals Sonography Markers of Chromosomal Abnormality in Second Trimester

2010 ◽  
Vol 4 (4) ◽  
pp. 337-347
Author(s):  
Jayprakash Shah
Keyword(s):  
Diagnostic Tool ◽  
Chromosomal Abnormality ◽  
Biochemical Markers ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Invasive Procedure ◽  
Prenatal Period ◽  
Second Trimester ◽  
Good Tool

ABSTRACT Maternal age is increasing in today's world of professional carrier of women. As we know with aging of ova chromosomal abnormalities in fetus are rising. Karyotype is the final diagnostic tool for the confirmation, but it is associated with risk of abortion with the invasive procedure required for it. Sonography markers can be a good tool along with biochemical markers to reduce this risk with better pick rate of chromosomal abnormalities during prenatal period.

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