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Amniocentesis is a medical procedure used primarily in the prenatal diagnosis of genetic conditions. It has other uses such as in the assessment of infection and fetal lung maturity. Prenatal diagnostic testing, which includes amniocentesis, is necessary to conclusively diagnose the majority of genetic disorders, with amniocentesis being the gold-standard procedure after 15 weeks' gestation.
Iniencephaly is a rare type of cephalic disorder characterised by three common characteristics: a defect to the occipital bone, spina bifida of the cervical vertebrae and retroflexion of the head on the cervical spine. Stillbirth is the most common outcome, with a few rare examples of live birth, after which death invariably occurs within a short time.
Obstetric ultrasonography, or prenatal ultrasound, is the use of medical ultrasonography in pregnancy, in which sound waves are used to create real-time visual images of the developing embryo or fetus in the uterus (womb). The procedure is a standard part of prenatal care in many countries, as it can provide a variety of information about the health of the mother, the timing and progress of the pregnancy, and the health and development of the embryo or fetus.
Prenatal testing is a tool that can be used to detect some birth defects at various stages prior to birth. Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible. These may be anatomic and physiologic problems with the health of the zygote, embryo, or fetus, either before gestation even starts or as early in gestation as practicable. Screening can detect problems such as neural tube defects, chromosome abnormalities, and gene mutations that would lead to genetic disorders and birth defects, such as spina bifida, cleft palate, Down syndrome, trisomy 18, Tay–Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, muscular dystrophy, and fragile X syndrome. Some tests are designed to discover problems which primarily affect the health of the mother, such as PAPP-A to detect pre-eclampsia or glucose tolerance tests to diagnose gestational diabetes. Screening can also detect anatomical defects such as hydrocephalus, anencephaly, heart defects, and amniotic band syndrome.
Omphalocele or omphalocoele also called exomphalos, is a rare abdominal wall defect. Beginning at the 6th week of development, rapid elongation of the gut and increased liver size reduces intra abdominal space, which pushes intestinal loops out of the abdominal cavity. Around 10th week, the intestine returns to the abdominal cavity and the process is completed by the 12th week. Persistence of intestine or the presence of other abdominal viscera in the umbilical cord results in an omphalocele.
Polyhydramnios is a medical condition describing an excess of amniotic fluid in the amniotic sac. It is seen in about 1% of pregnancies. It is typically diagnosed when the amniotic fluid index (AFI) is greater than 24 cm. There are two clinical varieties of polyhydramnios: chronic polyhydramnios where excess amniotic fluid accumulates gradually, and acute polyhydramnios where excess amniotic fluid collects rapidly.
Gastroschisis is a birth defect in which the baby's intestines extend outside of the abdomen through a hole next to the belly button. The size of the hole is variable, and other organs including the stomach and liver may also occur outside the baby's body. Complications may include feeding problems, prematurity, intestinal atresia, and intrauterine growth restriction.
Simpson–Golabi–Behmel syndrome (SGBS), is a rare inherited congenital disorder that can cause craniofacial, skeletal, vascular, cardiac, and renal abnormalities. There is a high prevalence of cancer associated in those with sgbs which includes wilms tumors, neuroblastoma, tumors of the adrenal gland, liver, lungs and abdominal organs. The syndrome is inherited in an X-linked recessive manner. Females that possess one copy of the mutation are considered to be carriers of the syndrome but may still express varying degrees of the phenotype, suffering mild to severe malady. Males experience a higher likelihood of fetal death.
Postterm pregnancy is when a woman has not yet delivered her baby after 42 weeks of gestation, two weeks beyond the typical 40-week duration of pregnancy. Postmature births carry risks for both the mother and the baby, including fetal malnutrition, meconium aspiration syndrome, and stillbirths. After the 42nd week of gestation, the placenta, which supplies the baby with nutrients and oxygen from the mother, starts aging and will eventually fail. Postterm pregnancy is a reason to induce labor.
The Pallister–Killian syndrome (PKS), also termed tetrasomy 12p mosaicism or the Pallister mosaic aneuploidy syndrome, is an extremely rare and severe genetic disorder. PKS is due to the presence of an extra and abnormal chromosome termed a small supernumerary marker chromosome (sSMC). sSMCs contain copies of genetic material from parts of virtually any other chromosome and, depending on the genetic material they carry, can cause various genetic disorders and neoplasms. The sSMC in PKS consists of multiple copies of the short arm of chromosome 12. Consequently, the multiple copies of the genetic material in the sSMC plus the two copies of this genetic material in the two normal chromosome 12's are overexpressed and thereby cause the syndrome. Due to a form of genetic mosaicism, however, individuals with PKS differ in the tissue distributions of their sSMC and therefore show different syndrome-related birth defects and disease severities. For example, individuals with the sSMC in their heart tissue are likely to have cardiac structural abnormalities while those without this sSMC localization have a structurally normal heart.
A nuchal scan or nuchal translucency (NT) scan/procedure is a sonographic prenatal screening scan (ultrasound) to detect chromosomal abnormalities in a fetus, though altered extracellular matrix composition and limited lymphatic drainage can also be detected.
Vasa praevia is a condition in which fetal blood vessels cross or run near the internal opening of the uterus. These vessels are at risk of rupture when the supporting membranes rupture, as they are unsupported by the umbilical cord or placental tissue.
Percutaneous umbilical cord blood sampling (PUBS), also called cordocentesis, fetal blood sampling, or umbilical vein sampling is a diagnostic genetic test that examines blood from the fetal umbilical cord to detect fetal abnormalities. Fetal and maternal blood supply are typically connected in utero with one vein and two arteries to the fetus. The umbilical vein is responsible for delivering oxygen rich blood to the fetus from the mother; the umbilical arteries are responsible for removing oxygen poor blood from the fetus. This allows for the fetus’ tissues to properly perfuse. PUBS provides a means of rapid chromosome analysis and is useful when information cannot be obtained through amniocentesis, chorionic villus sampling, or ultrasound ; this test carries a significant risk of complication and is typically reserved for pregnancies determined to be at high risk for genetic defect. It has been used with mothers with immune thrombocytopenic purpura.
Trisomy 16 is a chromosomal abnormality in which there are 3 copies of chromosome 16 rather than two. It is the most common trisomy leading to miscarriage and the second most common chromosomal cause of it, closely following X-chromosome monosomy. About 6% of miscarriages have trisomy 16. Those mostly occur between 8 and 15 weeks after the last menstrual period.
Velamentous cord insertion is a complication of pregnancy where the umbilical cord is inserted in the fetal membranes. It is a major cause of antepartum hemorrhage that leads to loss of fetal blood and associated with high perinatal mortality. In normal pregnancies, the umbilical cord inserts into the middle of the placental mass and is completely encased by the amniotic sac. The vessels are hence normally protected by Wharton's jelly, which prevents rupture during pregnancy and labor. In velamentous cord insertion, the vessels of the umbilical cord are improperly inserted in the chorioamniotic membrane, and hence the vessels traverse between the amnion and the chorion towards the placenta. Without Wharton's jelly protecting the vessels, the exposed vessels are susceptible to compression and rupture.
Fetal echocardiography, or Fetal echocardiogram, is the name of the test used to diagnose cardiac conditions in the fetal stage. Cardiac defects are amongst the most common birth defects. Their diagnosis is important in the fetal stage as it might help provide an opportunity to plan and manage the baby as and when the baby is born. Not all pregnancies need to undergo fetal echo.
A fetus or foetus is the unborn offspring that develops from an animal embryo. Following embryonic development, the fetal stage of development takes place. In human prenatal development, fetal development begins from the ninth week after fertilization and continues until birth. Prenatal development is a continuum, with no clear defining feature distinguishing an embryo from a fetus. However, a fetus is characterized by the presence of all the major body organs, though they will not yet be fully developed and functional and some not yet situated in their final anatomical location.
Occasionally, there is a single umbilical artery (SUA) present in the umbilical cord, as opposed to the usual two. This is sometimes also called a two-vessel umbilical cord, or two-vessel cord. Approximately, this affects between 1 in 100 and 1 in 500 pregnancies, making it the most common umbilical abnormality. Its cause is not known.
Elevated alpha-fetoprotein refers to a state where alpha-fetoprotein levels are outside of the reference range.
The anomaly scan, also sometimes called the anatomy scan, 20-week ultrasound, or level 2 ultrasound, evaluates anatomic structures of the fetus, placenta, and maternal pelvic organs. This scan is an important and common component of routine prenatal care. The function of the ultrasound is to measure the fetus so that growth abnormalities can be recognized quickly later in pregnancy, to assess for congenital malformations and multiple pregnancies, and to plan method of delivery.
References
- 1 2 3 4 "Limb Body Wall Complex (LBWC)". International Society of Ultrasound in Obstetrics and Gynecology (ISUOG). Retrieved 2024-01-08.
- 1 2 3 Chikkannaiah P, Dhumale H, Kangle R, Shekar R (January 2013). "Limb body wall complex: a rare anomaly". Journal of Laboratory Physicians. 5 (1): 65–7. doi: 10.4103/0974-2727.115930 . PMC 3758712 . PMID 24014975.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ↑ Russo R, D'Armiento M, Angrisani P, Vecchione R (1993). "Limb body wall complex: a critical review and a nosological proposal". Am J Med Genet. 47 (6): 893–900. doi:10.1002/ajmg.1320470617. PMID 8279488.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - 1 2 3 4 Sahinoglu Z, Uludogan M, Arik H, Aydin A, Kucukbas M, Bilgic R; et al. (2007). "Prenatal ultrasonographical features of limb body wall complex: a review of etiopathogenesis and a new classification". Fetal Pediatr Pathol. 26 (3): 135–51. doi:10.1080/15513810701563728. PMID 17886024.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ↑ Van Allen MI, Curry C, Gallagher L (1987). "Limb body wall complex: I. Pathogenesis". Am J Med Genet. 28 (3): 529–48. doi:10.1002/ajmg.1320280302. PMID 2962493.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - 1 2 3 4 5 Bhat A, Ilyas M, Dev G (2016). "Prenatal sonographic diagnosis of limb-body wall complex: case series of a rare congenital anomaly". Radiol Case Rep. 11 (2): 116–20. doi:10.1016/j.radcr.2016.02.004. PMC 4878923 . PMID 27257465.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ↑ Panaitescu AM, Ushakov F, Kalaskar A, Pandya PP (2016). "Ultrasound Features and Management of Body Stalk Anomaly". Fetal Diagn Ther. 40 (4): 285–290. doi:10.1159/000444299. PMID 26928926.
{{cite journal}}: CS1 maint: multiple names: authors list (link)
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