Prenatal diagnosis

Exome sequencing is now being incorporated into clinical care for pediatric and adult populations, but its integration into prenatal diagnosis has been more limited. One reason for this is the paucity of information about the clinical utility of exome sequencing in the prenatal setting.

14p vibransone 28-03-2024 4 2   Download

Ebook "Chemical diagnostics: From bench to bedside" is concluded with the case of successful applications in the medical field. By using few drops of blood, newborn screening can identify babies with various genetic diseases soon after birth. Mass spectrometry has played a key role in metabolomics diagnostics in the clinics, allowing unambiguous identification of metabolites and their isoforms. Quantification at high precision can be achieved through various approaches.

204p tudohanhtau1006 29-03-2024 4 1   Download

Exome sequencing (ES) is becoming more widely available in prenatal diagnosis. However, data on its clinical utility and integration into clinical management remain limited in practice. Herein, we report our experience implementing prenatal ES (pES) in a large cohort of fetuses with anomalies detected by ultrasonography using a hospital-based in-house multidisciplinary team (MDT) facilitated by a three-step genotype-driven followed by phenotype-driven analysis framework.

20p viellison 28-03-2024 5 2   Download

Part 2 book "Imaging of the newborn" includes content: Special considerations for neonatal ECMO; the central nervous system, the gastrointestinal tract, the kidney, some principles of in utero and post-natal formation of the skeleton, metabolic diseases, catheters and tubes, routine prenatal screening during pregnancy, antenatal diagnosis of selected defects.

160p muasambanhan08 23-02-2024 4 1   Download

Ebook Blueprints obstetrics & gynecology (Sixth edition) - Part 1 includes content: Pregnancy and prenatal care, early pregnancy complications, prenatal screening, diagnosis, and treatment, normal labor and delivery, antepartum hemorrhage, fetal complications of pregnancy,…and other contents.

189p longtimenosee03 01-02-2024 3 0   Download

Congenital lower urinary tract obstruction (LUTO) is a rare but significant condition affecting fetal urinary tract development. LUTO has a range of etiologies, with posterior urethral valves (PUV) being the most common cause. The prenatal diagnosis of LUTO plays a crucial role in recognizing the condition and guiding management decisions.

5p vitiki 30-01-2024 2 2   Download

Spontaneous perirenal hemorrhage (Wunderlich syndrome) in the fetus is a rare urinary system disease. Prenatal ultrasound diagnosis presents challenges due to the lack of specific clinical features.

4p vitiki 30-01-2024 3 2   Download

Part 2 book "Genetics in medicine" includes content: The molecular basis of genetic disease; the molecular, biochemical, and cellular basis of genetic disease; the treatment of genetic disease; developmental genetics and birth defects; cancer genetics and genomics; risk assessment and genetic counseling; prenatal diagnosis and screening; application of genomics to medicine and personalized health care; ethical and social issues in genetics and genomics.

315p oursky09 08-11-2023 4 2   Download

Part 1 book "Cloherty and stark’s manual of neonatal care" includes content: Fetal assessment and prenatal diagnosis; maternal diabetes mellitus, preeclampsia and related conditions, resuscitation in the delivery room; nonimmune hydrops fetalis; birth trauma; the high risk newborn anticipation; evaluation, management, and outcome; assessment of the newborn history and physical examination of the newborn; care of the well newborn; genetic issues presenting in the nursery,... and other contents.

627p oursky08 02-11-2023 7 1   Download

Part 2 book "PCR mutation detection protocols" includes content: Mutation surveyor - software for DNA sequence analysis, non invasive prenatal diagnosis, phylogenetic microarrays for cultivation independent identification and metabolic characterization of microorganisms in complex samples,....and other contents.

153p oursky06 17-10-2023 2 1   Download

Part 2 book "Genetics in medicine" includes content: The molecular basis of genetic disease; the molecular, biochemical, and cellular basis of genetic disease; the treatment of genetic disease; developmental genetics and birth defects; cancer genetics and genomics; risk assessment and genetic counseling; prenatal diagnosis and screening, .... and other contents.

315p oursky05 20-09-2023 6 1   Download

Retinoblastoma (Rb) is a rare cancer that develops from the layer of cells in the retina. A germline mutation in the RB1 gene is a high risk factor for Rb. We performed prenatal genetic diagnosis on two pregnant women who had had a child with hereditary Rb and continued checking their newborns' conditions after giving birth

6p vimulcahy 18-09-2023 6 3   Download

Chromosome 13q deletion syndrome shows variable clinical features related to the different potential breakpoints in chromosome 13q. The severely malformed phenotype is known to be associated with the deletion of a critical region in 13q32. However, esophageal atresia is a rare symptom and the relevant region is unknown.

6p videadpool 05-05-2023 3 2   Download

Fetal midgut volvulus is an uncommon yet potentially life-threatening condition. Prenatal diagnosis may pose a challenge, due to the paucity of specific signs and symptoms. Timely prenatal diagnosis of this condition is imperative to prevent fetal mortality and morbidity.

4p videadpool 05-05-2023 2 2   Download

Androgen insensitivity syndrome (AIS) is a rare X-linked recessive androgen receptor (AR) disorder. However, the overlap in clinical manifestations between AIS and other disorders of sex development can cause clinical diagnostic difficulties. Applying the whole coding region sequencing method is an optimal method for the diagnosis of AIS.

8p vicaptainmarvel 21-04-2023 3 2   Download

Part 1 of ebook "Medicolegal issues in obstetrics and gynaecology" provide readers with content about: ethics in medicine; consent after montgomery - clinical considerations; consent after montgomery: legal considerations; intimate examinations and chaperones; anaesthesia in obstetrics and gynaecology; obstetrics; prenatal screening and diagnosis; cardiac disease in pregnancy; pre-eclampsia and hypertension;... Please refer to the part 1 of ebook for details!

195p duonghoanglacnhi 07-11-2022 12 5   Download

Part 1 of ebook "Gabbe’s obstetrics essentials: Normal and problem pregnancies" provide readers with content about: placental anatomy and physiology; placental anatomy and physiology; maternal physiology; maternal-fetal immunology; developmental origins of adult health and disease; prenatal care; nutrition during pregnancy; drugs and environmental agents in pregnancy and lactation - teratology and epidemiology; genetic screening and prenatal genetic diagnosis;... Please refer to the ebook for details!

610p tieuduongchi 24-10-2022 9 7   Download

Non-invasive prenatal testing (NIPT) is being applied more widely in Vietnam. However, the effects of NIPT on prenatal diagnosis have not been studied much in our country. This study aims to analyze the impact of NIPT on the changes in the number of routine screening tests for chromosomal abnormalities 21, 18, and 13 and the impact of NIPT on invasive prenatal diagnostic procedures and propose strategies to screen for fetal aneuploidy.

7p vimclaren 20-10-2022 4 2   Download

Fetal skeletal dysplasia (FSD) comprises a complex group of systemic bone and cartilage disorders. Many FSD phenotypes have indistinct definitions, making definitive prenatal diagnosis difficult. The condition is typically diagnosed using sonography; however, three-dimensional computed tomography (3D-CT) also aids in making a prenatal diagnosis.

8p vimariana2711 22-12-2020 10 1   Download

The objective of this prospective, multidisciplinary and multicenter study was to explore the effect of a cleft lip, associated or not with a cleft palate, on parents, on parent-infant relationship, and on the baby’s relational development. It also highlighted how the type of cleft and the timing of the surgery could impact this effect.

11p viorochimaru2711 29-05-2020 11 1   Download