What is the first line specific genetic test for down's syndrome?
Array CGH
Next Generation Sequencing
Sanger Sequencing
Whole Genome Sequencing
Antenatal ultrasound screening tests are conducted in which weeks gestation?
8 weeks
12 weeks
16 weeks
20 weeks
24 weeks
Duchenne Muscular Dystrophy is an X-linked recessive dominant( recessive, dominant ) condition
What is the chance that a child of these parents will be affected by Duchenne Muscular Dystrophy?
1 in 2
1 in 4
1 in 8
1 in 16
In terms of autosomal dominant conditions, the risk of an affected child if 1 parent is affected is 50% 25% 75% 100%( 50%, 25%, 75%, 100% )
X linked recessive conditions typically only occur in males females( males, females )
Chorionic Villus Biopsy can be conducted after weeks gestation Amniocentesis can be conducted after weeks gestation
The sex of a child can be determined as of weeks gestation
Let's say a pregnant woman who is a carrier for DMD is 8 weeks pregnant, and a scan confirms her child will be male. Which is the best screening test for DMD?
Chorionic Villus Biopsy
Amniocentesis
Typically, if a pregnant woman who is a DMD carrier has her child confirmed as female, she does not need to worry about her being affected by the condition.
Pneumoperitoneum is an abnormal presence of air or other gas amniotic fluid faeces urine( air or other gas, amniotic fluid, faeces, urine ) in the peritoneal cavity
The first stool passed by an infant is known as the
Which congenital condition typically affects the pancreatic secretions making them abnormally thickened?
In a child with cystic fibrosis, the meconium typically becomes stuck in the distal ileum transverse colon 2nd part of the duodenum( distal ileum, transverse colon, 2nd part of the duodenum )
The first line treatment for meconium ileus is surgical in nature.
The absence or abnormal narrowing of an opening or passage in the body is known as
A baby who produces bile stained vomit shortly after birth is considered to have which condition until proven otherwise?
Pyloric Stenosis
Malrotation/Volvulus
Cystic Fibrosis
This condition, whereby a section of the foetal intestines has telescoped inside of another, is a clinical emergency known as