胎儿高性脏队列研究和分析
Wei Yang1,2, Shujing Zu2, Qiu Jin1
1Department of Obstetrics and Gynecology, The Second Affliliated Hospital of Harbin Medical University, Harbin, China.
Frontiers in genetics
|September 4, 2023
概括
胎儿高性脏 (HEK) 的染色体异常率为20%. 孤立病例显示出更高的遗传变异检测率,而非孤立病例的胎儿死亡率明显更高,影响了预后.
科学领域:
- 医学遗传学 医学遗传学
- 产前诊断 在产前诊断
- 胎儿医学 胎儿医学
背景情况:
- 超声 (HEK) 是一个产前超声检查发现,需要进一步调查.
- 了解HEK的遗传基础和妊娠结果对于咨询至关重要.
研究的目的:
- 确定胎儿HEK的染色体和单基因原因的发病率.
- 评估与分离和非分离HEK相关的妊娠结果.
- 为基因咨询和预后提供信息.
主要方法:
- 对25例产前HEK病例的回顾性分析.
- 对21项关于HEK的研究 (1178个胎儿) 的元分析.
- 对染色体形状,拷贝数变异 (CNVs) 和单基因病因的分析.
- 评估妊娠结果,包括终止,新生儿和子宫内死亡率.
主要成果:
- 在20%的HEK病例中检测到染色体形状.
- 在29%的隔离HEK (IHK) 和37%的非隔离HEK (NIHK) 中发现了致病性CNV.
- 在31%的IHK中发现了单基因病因;HNF1B变异最常见.
- 与IHK相比,NIHK的胎儿死亡率 (63%) 显著更高 (21%的终止,13%的新生儿死亡率).
结论:
- HEK与显著的染色体和单基因病因相关.
- 非隔离的HEK具有显著更高的不良妊娠结果风险.
- 胚胎液,脏大小和皮质细胞分化是关键的预后指标.
相关概念视频
Imaging Studies I: Kidney, Ureter, and Bladder Studies
25
Kidney, Ureter, and Bladder (KUB) StudiesKidney, Ureter, and Bladder (KUB) studies are standard diagnostic imaging procedures used to assess the anatomy of the urinary system. They are commonly utilized for patients experiencing abdominal pain or urinary symptoms. By using a simple X-ray of the abdomen, KUB studies can reveal structural and pathological abnormalities within the kidneys, ureters, and bladder. These studies are particularly valuable in diagnosing kidney stones, urinary...
25
Acute Kidney Injury IV: Diagnostic Studies and Prevention
34
Accurate diagnosis and effective prevention are critical in managing Acute Kidney Injury (AKI), which is linked to high mortality rates ranging from 10% to 80%. Timely recognition of at-risk patients and careful monitoring can significantly reduce the likelihood of kidney damage.Diagnostic Assessments:The diagnostic process starts with a comprehensive medical history to identify prerenal, intrarenal, and postrenal causes.Prerenal causes, such as dehydration, hypotension, or blood loss, should...
34
External Anatomy of the Kidney
1.2K
The kidneys are a pair of bean-shaped organs in the human body that play a critical role in maintaining overall health. They filter out waste products from the blood, regulate blood pressure, maintain electrolyte balance, and stimulate the production of red blood cells.
The kidneys are located in the retroperitoneal space on either side of the vertebral column, protected posteriorly by the 11th and 12th ribs. The right kidney sits slightly lower than the left owing to the presence of the liver...
The kidneys are located in the retroperitoneal space on either side of the vertebral column, protected posteriorly by the 11th and 12th ribs. The right kidney sits slightly lower than the left owing to the presence of the liver...
1.2K
Renal Corpuscle
2.5K
The glomerulus and Bowman's capsule are two essential components of the nephron, which is the functional unit of the kidney. These microscopic structures play a critical role in the process of blood filtration to produce urine.
Glomerulus: Structure and Function
The glomerulus is a tiny, intricate network of capillaries located at the beginning of the nephron. It's enveloped by the Bowman's capsule and receives its blood supply from an afferent arteriole, which divides into numerous...
Glomerulus: Structure and Function
The glomerulus is a tiny, intricate network of capillaries located at the beginning of the nephron. It's enveloped by the Bowman's capsule and receives its blood supply from an afferent arteriole, which divides into numerous...
2.5K
Imaging Studies II: Ultrasonography
28
IntroductionUltrasonography, or renal ultrasound, is a noninvasive medical imaging technique that uses high-frequency sound waves to visualize the kidneys, ureters, bladder, and surrounding tissues.Indications for Urinary System UltrasonographyUrinary system ultrasonography is indicated in various clinical scenarios, such as:Kidney Stones (Urolithiasis): To detect and monitor the size and presence of kidney or urinary tract stones.Hydronephrosis: To assess the dilation of the renal pelvis and...
28
Acute Kidney Injury II: Pathophysiology
26
Acute kidney injury (AKI) causes are categorized into three primary categories based on the location of the injury: prerenal, intrarenal (or intrinsic), and postrenal causes. This classification guides clinical management and illustrates how different pathways can impair kidney function.Etiology and Pathophysiology of Acute Kidney Injury1. Prerenal causesEtiology: Prerenal Acute Kidney Injury, the most common type, occurs when reduced blood flow to the kidneys decreases filtration capacity...
26


