Obgyn T 22-45 Flashcards
(424 cards)
- What percentage of conceptions are affected by fetal abnormalities?
Over 50% of conceptions are affected by fetal abnormalities.
What is the percentage of fetal abnormalities in miscarriages and deaths between 20 weeks gestation and 1 year postnatal?
About 70% of miscarriages and 15% of deaths between 20 weeks gestation and 1 year postnatal are associated with fetal abnormalities.
What is a major congenital abnormality?
A major congenital abnormality is one that results in the death of the baby or severe disability.
What are the most common types of neural tube defects?
The most common neural tube defects include anencephaly, microcephaly, spina bifida (with or without myelomeningocele), encephalocele, holoprosencephaly, and hydranencephaly.
What is the outcome for infants with anencephaly or microcephaly?
Infants with anencephaly or microcephaly usually do not survive, with many dying during labor or within the first week of life.
How can the risk of neural tube defects be reduced?
Pre- and periconceptual folic acid supplementation (400 μg/day) can reduce the incidence of neural tube defects. Women with a history of neural tube defects in pregnancy are advised to take dietary folic acid supplements.
How are congenital cardiac defects detected?
Congenital cardiac defects can be diagnosed by real-time ultrasound imaging, particularly using four-chamber views during the 18-week gestation scan.
What are the most common congenital cardiac defects?
The most common congenital cardiac defects include ventricular and atrial septal defects, pulmonary and aortic stenosis, coarctation, and transposition (including tetralogy of Fallot).
What is the difference between gastroschisis and exomphalos?
Gastroschisis is a defect where the bowel protrudes outside the abdominal cavity without peritoneal covering, separate from the umbilical cord. Exomphalos is a hernia of the umbilical cord with a peritoneal covering, often associated with chromosomal abnormalities.
What characterizes Down’s syndrome (DS)?
Down’s syndrome is characterized by abnormal facial features, varying degrees of mental retardation, and congenital heart disease. It is caused by an additional chromosome on group 21.
How does maternal age affect the risk of Down’s syndrome?
The risk of Down’s syndrome increases with advancing maternal age due to a higher frequency of nondisjunction during meiosis.
What methods are used in screening for fetal abnormalities?
Screening methods include identifying clinical risk factors, using ultrasound (US), and performing biochemical testing of maternal serum.
What is the combined screening test for Down’s Syndrome (DS) in the first trimester?
The combined screening test for DS includes using ultrasound (US) and biochemistry, performed towards the end of the first trimester, along with a detailed US scan at around 20 weeks.
What should be offered if a woman misses the first-trimester Down’s Syndrome (DS) screening?
If a woman misses the first-trimester DS screening, a biochemical screening test should be offered at about 16 weeks.
What are the clinical risk factors in early pregnancy for fetal abnormality?
Clinical risk factors in early pregnancy include maternal age and risk of aneuploidy (especially DS), maternal drug ingestion (anticonvulsants, cytotoxic agents, warfarin), a previous history of fetal abnormality, and maternal diseases like diabetes and congenital heart disease.
What maternal drugs are associated with an increased risk of fetal abnormalities?
Maternal drugs associated with increased risk include anticonvulsants (CNS and neural tube defects), cytotoxic agents used in cancer therapy, and warfarin (especially when used in the first trimester).
What clinical risk factors are associated with fetal abnormality in late pregnancy?
Late pregnancy risk factors include persistent breech presentation or abnormal lie, vaginal bleeding, abnormal fetal movements, abnormal amniotic fluid volume (polyhydramnios or oligohydramnios), and growth restriction.
What are the two early ultrasound scans offered during pregnancy, and when are they done?
The first ultrasound is ideally between 11w+0d and 13w+6d to confirm fetal viability and gestation. The second ultrasound is offered at about 20 weeks.
What measurements are taken during the second ultrasound scan?
The second ultrasound measures fetal viability, head and abdominal circumferences, biparietal diameter, femur length, amniotic fluid volume, and performs an anatomical survey of organ systems.
How is the accuracy of Down’s Syndrome risk prediction increased in screenings?
The accuracy of DS risk prediction is increased by combining nuchal translucency (NT) measurements with biochemical markers such as β-hCG and pregnancy-associated plasma protein-A.
What does the ‘combined screening test’ for Down’s Syndrome consist of?
The combined screening test includes NT, β-hCG, and pregnancy-associated plasma protein-A (PAPP-A) and should occur when the crown-rump length (CRL) measures between 45-84 mm during ultrasound screenings.
What four chemicals are measured in maternal serum for Down’s Syndrome risk assessment?
The four chemicals measured are hCG, α-fetoprotein (aFP), unconjugated oestriol (uE3), and inhibin-A.
What further assessment options are available for women with an increased risk of chromosomal abnormalities?
Women with an increased risk of chromosomal abnormalities can undergo an invasive test, such as chorionic villus sampling (CVS) in the first trimester or amniocentesis in the second trimester, which provides information about chromosome number and structure but carries a 1% risk of miscarriage.
What imaging techniques can be used to clarify a suspected structural fetal abnormality?
Further imaging techniques include additional ultrasound (US) examinations after 1–2 weeks for better visualization or an MRI scan, especially useful for abnormalities of the central nervous system.