Cytogenetic follow-up of chromosomal mosaicism detected in first-trimester prenatal diagnosis

2014 ◽  
Vol 34 (8) ◽  
pp. 739-747 ◽  
Author(s):  
Paola Battaglia ◽  
Anna Baroncini ◽  
Angela Mattarozzi ◽  
Ilaria Baccolini ◽  
Antonella Capucci ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
First Trimester ◽  
Chromosomal Mosaicism

Utilization of Prenatal Diagnosis For Cystic Fibrosis Over the Past Seven Years

PEDIATRICS ◽  
1994 ◽  
Vol 94 (1) ◽  
pp. 13-16 ◽  
Author(s):  
Ilse Jedlicka-Köhler ◽  
Manfred Götz ◽  
Irmgard Eichler
Keyword(s):  
Cystic Fibrosis ◽  
Prenatal Diagnosis ◽  
Reproductive Behavior ◽  
Dna Analysis ◽  
First Trimester ◽  
Actual Behavior ◽  
The Past ◽  
Single Child ◽  
A Prospective Study

Objective. First trimester prenatal diagnosis (PD) by DNA analysis for cystic fibrosis (CF) has been available for parents of affected children since May 1986. Methods. In a prospective study 37 couples with a single child affected by CF were investigated. Fathers and mothers were interviewed simultaneously, and their attitudes towards further childbearing and potential utilization of PD ascertained. Parental answers were treated as one. A 7-year follow-up allowed comparison between intended and actual behavior. Results. At the time of the interview, 16 parents (43%) were determined to have further children. Nineteen parents (51%) said they would certainly or probably utilize PD in case of pregnancy. Their predominant reason for favoring PD was the strong desire to have a healthy child (47%). Among the 18 rejectors (49%) the fear of an unsolvable conflict in case of an affected fetus prevailed (39%). Twenty-four pregnancies actually occurred in 18 families. Utilization of PD was arranged in five (21%) and finally performed in four (17%) cases. Conclusion. Availability of PD does not substantially change the reproductive behavior of parents of children with CF. Reasons for this were multifactorial, with anticipated difficulty in deciding to continue or terminate pregnancy being predominant.

Evaluation of Normal Heart Rate in Early Pregnancy Corresponding to Gestational Age between Six to Eight Weeks

Med Phoenix ◽  
2017 ◽  
Vol 2 (1) ◽  
pp. 34-37
Author(s):  
Akhilesh Kumar Jha ◽  
Bikranta Rimal ◽  
Tarannum Khatun
Keyword(s):  
Heart Rate ◽  
Early Pregnancy ◽  
Well Being ◽  
Clinical Decision ◽  
First Trimester ◽  
Normal Heart ◽  
Normal Heart Rate ◽  
First Trimester Of Pregnancy ◽  
Singleton Pregnancies

Background: Ultrasonography is the reliable and safe way for the evaluation of pregnancy. Heart rate can be detected more confidently from the Ultrasonography. Heart rate is an important parameter for the evaluation of early pregnancy. The purpose of this study was to evaluate the normal heart rate in embryos/fetuses between 6 and 8 weeks of gestation.Method: In our region people are poor and most of them do not know the benefit of regular follow up examination during pregnancy. So most of pregnant women come to our centre at late stage of pregnancy. The number of pregnancy cases is good in our centre but the number of early pregnancy cases coming to regular follow up examination is low. Thus the study was conducted in 51 normal singleton pregnancies undergoing routine ultrasound examination during the first trimester of pregnancy. The duration of study was 6 weeks.Result: Out of 51 singleton pregnancies, 20 cases (39.2%) heart rate were between 131-150 beat per minute and 25 cases (49.0 %) heart rate were between 151-170 beat per minute. However 4 cases (7.8%) were between 110-120 beat per minute and 2 cases (3.9%) were more than 171 beat per minute. There were zero cases above the 180 beat per minute.Conclusion: The result of this study will help to evaluate abnormal and normal fetal heart rate so that early clinical decision whether to continue the pregnancy or terminate it can be taken, as Ultrasonography is only the method used in screening fetal well being in most of the region of our country.Med Phoenix Vol.2(1) July 2017, 34-37

scholarly journals Identifying Patterns of Symptom Distress in Pregnant Women: A Pilot Study

2021 ◽  
Vol 18 (12) ◽  
pp. 6333
Author(s):  
Ching-Fang Lee ◽  
Fur-Hsing Wen ◽  
Yvonne Hsiung ◽  
Jian-Pei Huang ◽  
Chun-Wei Chang ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Healthcare Providers ◽  
First Trimester ◽  
Symptom Distress ◽  
Teaching Hospitals ◽  
Lower Back ◽  
Distress Symptoms ◽  
Related Symptom ◽  
Experienced Symptom

During pregnancy, a woman’s enlarged uterus and the developing fetus lead to symptom distress; in turn, physical and psychological aspects of symptom distress are often associated with adverse prenatal and birth outcomes. This study aimed to identify the trends in the trajectory of these symptoms. This longitudinal study recruited 95 pregnant women, with a mean age of 32 years, from the prenatal wards of two teaching hospitals in northern Taiwan. Symptom distress was measured by a 22-item scale related to pregnancy-induced symptoms. The follow-up measurements began during the first trimester and were taken every two to four weeks until childbirth. More than half of the pregnant women experienced symptom distress manifested in a pattern depicted to be “Decreased then Increased” (56.8%). Other noticeable patterns were “Continuously Increased” (28.4%), “Increased then Decreased” (10.5%) and “Continuously Decreased” (4.2%), respectively. It is worth noting that most pregnant women recorded a transit and increase in their symptom distress, revealed by their total scores, at the second trimester (mean 22.02 weeks) of pregnancy. The participants’ major pregnancy-related distress symptoms were physical and included fatigue, frequent urination, lower back pain, and difficulty sleeping. The mean scores for individual symptoms ranged from 2.32 to 3.61 and were below the “moderately distressful” level. This study provides evidence that could be used to predict women’s pregnancy-related symptom distress and help healthcare providers implement timely interventions to improve prenatal care.

scholarly journals Maternal and Fetal Outcomes in Women with Brain Arteriovenous Malformation Rupture during Pregnancy

2021 ◽  
pp. 1-7
Author(s):  
Kimberly L. Yan ◽  
Nerissa U. Ko ◽  
Steven W. Hetts ◽  
Shantel Weinsheimer ◽  
Adib A. Abla ◽  
...  
Keyword(s):  
San Francisco ◽  
Treatment Strategies ◽  
First Trimester ◽  
Interventional Treatment ◽  
Maternal Outcomes ◽  
Fetal Outcomes ◽  
Brain Avm ◽  
Risk Of Hemorrhage ◽  
The University

Background: Sporadic brain arteriovenous malformations (BAVM) are a major cause of hemorrhagic stroke in younger persons. Prior studies have reported contradictory results regarding the risk of hemorrhage during pregnancy, and there are no standard guidelines for the management of pregnant women who present with BAVM rupture. The purpose of this study is to describe maternal and fetal outcomes and treatment strategies in patients with BAVM hemorrhage during pregnancy. Methods: We performed a retrospective review of the University of California, San Francisco Brain AVM Project database for female patients who were pregnant at the time of BAVM hemorrhage between 2000 and 2017. Clinical and angiographic characteristics at presentation, BAVM treatment, and maternal outcomes using modified Rankin scale (mRS) score at presentation and 2-year follow-up were recorded. Fetal outcomes were abstracted from medical records and maternal reports. Results: Sixteen patients presented with BAVM hemorrhage during pregnancy, 81% (n = 13) of whom were in their second or third trimester. Three patients (19%) who were in their first trimester terminated or miscarried pregnancy prior to BAVM intervention. Of the remaining 13 patients, 77% (n = 10) received emergent BAVM treatment at time of hemorrhage prior to delivery, and 85% of patients achieved BAVM obliteration and good maternal outcomes (mRS 0–2) at 2-year follow-up. All patients had uncomplicated deliveries (69% cesarean and 23% vaginal) with no reports of postnatal cognitive or developmental delays in infants at 2-year follow-up. Conclusions: Our study shows good long-term maternal and fetal outcomes in ruptured BAVM patients presenting during pregnancy, the majority who received BAVM interventional treatment prior to delivery.

Chromosomal mosaicism: Origins and clinical implications in preimplantation and prenatal diagnosis

2021 ◽  
Vol 41 (5) ◽  
pp. 631-641 ◽  
Author(s):  
Brynn Levy ◽  
Eva R. Hoffmann ◽  
Rajiv C. McCoy ◽  
Francesca R. Grati
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosomal Mosaicism ◽  
Clinical Implications

scholarly journals Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Na Ma ◽  
Hui Xi ◽  
Jing Chen ◽  
Ying Peng ◽  
Zhengjun Jia ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Sex Chromosome ◽  
Snp Array ◽  
Genomic Rearrangements ◽  
Chromosomal Mosaicism ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Low Level ◽  
Autosomal Aneuploidy ◽  
Number Variation

Abstract Background Emerging studies suggest that low‐coverage massively parallel copy number variation sequencing (CNV-seq) more sensitive than chromosomal microarray analysis (CMA) for detecting low-level mosaicism. However, a retrospective back-to-back comparison evaluating accuracy, efficacy, and incremental yield of CNV-seq compared with CMA is warranted. Methods A total of 72 mosaicism cases identified by karyotyping or CMA were recruited to the study. There were 67 mosaic samples co-analysed by CMA and CNV-seq, comprising 40 with sex chromosome aneuploidy, 22 with autosomal aneuploidy and 5 with large cryptic genomic rearrangements. Results Of the 67 positive mosaic cases, the levels of mosaicism defined by CNV-seq ranged from 6 to 92% compared to the ratio from 3 to 90% by karyotyping and 20% to 72% by CMA. CNV-seq not only identified all 43 chromosomal aneuploidies or large cryptic genomic rearrangements detected by CMA, but also provided a 34.88% (15/43) increased yield compared with CMA. The improved yield of mosaicism detection by CNV-seq was largely due to the ability to detect low level mosaicism below 20%. Conclusion In the context of prenatal diagnosis, CNV-seq identified additional and clinically significant mosaicism with enhanced resolution and increased sensitivity. This study provides strong evidence for applying CNV-seq as an alternative to CMA for detection of aneuploidy and mosaic variants.

scholarly journals Cohort profile: the Chinese Pregnant Women Cohort Study and Offspring Follow-up (CPWCSaOF)

BMJ Open ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. e044933
Author(s):  
Tianchen Lyu ◽  
Yunli Chen ◽  
Yongle Zhan ◽  
Yingjie Shi ◽  
Hexin Yue ◽  
...  
Keyword(s):  
Cohort Study ◽  
Pregnant Women ◽  
First Trimester ◽  
Health Problems ◽  
Environmental Data ◽  
Geographical Information ◽  
Obstetric Outcomes ◽  
Factors Affecting ◽  
Link Type

PurposeA multicentre prospective cohort study, known as the Chinese Pregnant Women Cohort Study (CPWCS), was established in 2017 to collect exposure data during pregnancy (except environmental exposure) and analyse the relationship between lifestyle during pregnancy and obstetric outcomes. Data about mothers and their children’s life and health as well as children’s laboratory testing will be collected during the offspring follow-up of CPWCS, which will enable us to further investigate the longitudinal relationship between exposure in different periods (during pregnancy and childhood) and children’s development.Participants9193 pregnant women in 24 hospitals in China who were in their first trimester (5–13 weeks gestational age) from 25 July 2017 to 26 November 2018 were included in CPWCS by convenience sampling. Five hospitals in China which participated in CPWCS with good cooperation will be selected as the sample source for the Chinese Pregnant Women Cohort Study (Offspring Follow-up) (CPWCS-OF).Findings to dateSome factors affecting pregnancy outcomes and health problems during pregnancy have been discovered through data analysis. The details are discussed in the ‘Findings to date’ section.Future plansInfants and children and their mothers who meet the criteria will be enrolled in the study and will be followed up every 2 years. The longitudinal relationship between exposure (questionnaire data, physical examination and biospecimens, medical records, and objective environmental data collected through geographical information system and remote sensing technology) in different periods (during pregnancy and childhood) and children’s health (such as sleeping problem, oral health, bowel health and allergy-related health problems) will be analysed.Trail registration numberCPWCS was registered with ClinicalTrials.gov on 18 January 2018: NCT03403543. CPWCS-OF was registered with ClinicalTrials.gov on 24 June 2020: NCT04444791.

Prenatal Diagnosis of Double Trisomy 48,XXX,+18 in the First Trimester

2005 ◽  
Vol 24 (5) ◽  
pp. 717-719 ◽  
Author(s):  
Victor Dezerega ◽  
Cecilia Be ◽  
Amy E. Wong ◽  
Rafael Silva ◽  
Waldo Sepulveda
Keyword(s):  
Prenatal Diagnosis ◽  
First Trimester ◽  
Double Trisomy

Prenatal diagnosis of spina bifida aperta after first-trimester valproate exposure

1992 ◽  
Vol 12 (11) ◽  
pp. 893-897 ◽  
Author(s):  
Juliette G. C. Omtzigt ◽  
Frans J. Los ◽  
Adriana M. Hagenaars ◽  
Patricia A. Stewart ◽  
Eva S. Sachs ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Spina Bifida ◽  
First Trimester ◽  
Spina Bifida Aperta

FEASIBILITY OF FIRST TRIMESTER PRENATAL DIAGNOSIS OF HUNTER SYNDROME

The Lancet ◽  
1983 ◽  
Vol 322 (8359) ◽  
pp. 1147 ◽  
Author(s):  
C. Lykkelund ◽  
F. Søndergaard ◽  
A.J. Therkelsen ◽  
T. Tønnesen ◽  
V. Rasmussen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Hunter Syndrome ◽  
First Trimester
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